Updated on 2021/03/31

写真a

 
AKIYAMA, Masashi
 
Organization
Graduate School of Medicine Program in Integrated Medicine Biomedical Regulation Professor
Title
Professor

Degree 2

  1. M.D. ( 1986.3   Keio University ) 

  2. Ph.D. ( 1991.9   Keio University ) 

Research Interests 7

  1. hair follicle biology

  2. prenatal diagnosis

  3. developmental biology of the skin

  4. skin barrier function

  5. genodermatosis

  6. atopic eczema

  7. genetic disorders of keratinization

Research Areas 1

  1. Others / Others  / Dermatology

Research History 12

  1. Nagoya University Graduate School of Medicine, Department of Dermatology, Professor and Chairman

    2010.10

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    Country:Japan

  2. Hokkaido University Graduate School of Medicine, Department of Dermatology, Associate Professor

    2007.3 - 2010.9

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    Country:Japan

  3. Hokkaido University Graduate School of Medicine, Department of Dermatology, Associate Professor

    2007.2

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    Country:Japan

  4. Hokkaido University Hospital, Department of Dermatology, Assistant Professor

    2003.10 - 2007.1

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    Country:Japan

  5. Hokkaido University Hospital, Department of Dermatology, Assistant Professor

    2001.7 - 2003.9

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    Country:Japan

  6. Teikyo University School of Medicine, Department of Dermatology, Associate Professor

    1999.6 - 2001.6

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    Country:Japan

  7. Kitasato Institute Hospital, Senior Staff Dermatologist

    1995.4 - 1999.5

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    Country:Japan

  8. Kitasato Institute Hospital, Staff Dermatologist

    1994.6 - 1995.3

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    Country:Japan

  9. Department of Medicine, Division of Dermatology, University of Washington, School of Medicine, Senior research fellow

    1994.4 - 1994.5

  10. Department of Biological Structure, University of Washington, School of Medicine, Senior research fellow

    1992.7 - 1994.3

  11. Shimizu City Hospital, Senior Staff Dermatologist

    1992.5 - 1992.6

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    Country:Japan

  12. Shimizu City Hospital, Staff Dermatologist

    1990.7 - 1992.4

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    Country:Japan

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Education 1

  1. Keio University   Faculty of Medicine

    1980.4 - 1986.3

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    Country: Japan

Professional Memberships 3

  1. 日本皮膚科学会   理事

    2014.6

  2. 日本研究皮膚科学会   理事

    2009.4

  3. 皮膚かたち研究学会   学術委員長

    2005.4

Awards 2

  1. 皆見省吾記念賞(日本皮膚科学会賞)

    2006.6  

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    Country:Japan

  2. 日本研究皮膚科学会賞

    2007.4  

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    Country:Japan

 

Papers 359

  1. A case of adolescent striae distensae accompanied by ileitis.

    Shibata T, Takama H, Oshima Y, Kono M, Akiyama M, Watanabe D

    The Journal of dermatology     2021.2

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  2. Acute generalized exanthematous pustulosis triggered by acetaminophen in an IL36RN variant heterozygote

    Murase Chiaki, Takeichi Takuya, Sugiura Kazumitsu, Akiyama Masashi

    JOURNAL OF DERMATOLOGY     2021.2

  3. Two Cases of Porokeratosis with MVD Mutations, in Association with Bullous Pemphigoid

    Arisawa Y, Ito Y, Tanahashi K, Muro Y, Ogi T, Takeichi T, Akiyama M

    Acta dermato-venereologica     2021.2

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  4. Darier's disease with epilepsy in an elderly patient after surgery for aortic dissection

    Murase Yuya, Takeichi Takuya, Shibata Tomoyuki, Muro Yoshinao, Akiyama Masashi

    JOURNAL OF DERMATOLOGY     2021.2

  5. ANCA-associated neuropathy in systemic sclerosis: A case report and review of literature

    Takenaka Kayo, Takeichi Takuya, Nishi Ryoji, Suzuki Masashi, Koike Haruki, Katsuno Masahisa, Ogawa-Momohara Mariko, Muro Yoshinao, Akiyama Masashi

    JOURNAL OF CUTANEOUS IMMUNOLOGY AND ALLERGY     2021.2

  6. Morphea in a Crohn's disease patient undergoing ustekinumab treatment.

    Makihara-Inukai M, Takeichi T, Ogawa-Momohara M, Muro Y, Akiyama M

    European journal of dermatology : EJD     2021.1

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  7. Neutrophil-to-lymphocyte ratio as a predictor of lymph node metastasis in extramammary Paget's disease: A retrospective study.

    Ebata A, Taki T, Mori S, Murakami Y, Urata T, Okumura M, Akanabe H, Imai S, Yokota K, Akiyama M

    Journal of the American Academy of Dermatology     2021.1

  8. Immediate response to apremilast in patients with palmoplantar pustulosis: a retrospective pilot study

    Kato Noriko, Takama Hiroyuki, Ando Yoriko, Yanagishita Takeshi, Ohshima Yuichiro, Ohashi Wataru, Akiyama Masashi, Watanabe Daisuke

    INTERNATIONAL JOURNAL OF DERMATOLOGY     2021.1

  9. MEDNIK-like syndrome due to compound heterozygous mutations in AP1B1

    Ito Y., Takeichi T., Igari S., Mori T., Ono A., Suyama K., Takeuchi S., Muro Y., Ogi T., Hosoya M., Yamamoto T., Akiyama M.

    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY     2021.1

  10. A case with overlapping features of IgG4-related autoimmune pancreatitis, Sjögren's syndrome and anti-aminoacyl-tRNA synthetase syndrome.

      Vol. 5 ( 1 ) page: 82-86   2021.1

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1080/24725625.2020.1816675

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  11. Generalized pustular psoriasis associated with systemic lupus erythematosus successfully treated with secukinumab

    Akaji Kazuya, Nakagawa Yukinobu, Kakuda Kasumi, Takafuji Madoka, Kiyohara Eiji, Murase Chiaki, Takeichi Takuya, Akiyama Masashi, Fujimoto Manabu

    JOURNAL OF DERMATOLOGY   Vol. 48 ( 1 ) page: E43-E44   2021.1

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1111/1346-8138.15645

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  12. Systemic inflammatory diseases due to germ line EGFR mutations, with features suggestive of autoinflammatory keratinization diseases

    Takeichi Takuya, Akiyama Masashi

    JOURNAL OF DERMATOLOGY   Vol. 48 ( 1 ) page: E24-E25   2021.1

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1111/1346-8138.15612

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  13. Whole-exome sequencing and host cell reactivation assay lead to a diagnosis of xeroderma pigmentosum group D with mild ultraviolet radiation sensitivity.

    Sugaya M, Funamizu K, Kono M, Okuno Y, Kondo T, Ono R, Akiyama M, Nishigori C, Sato S

    The Journal of dermatology   Vol. 48 ( 1 ) page: 96-100   2021.1

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1111/1346-8138.15617

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  14. Clinical practice guide for the treatment of perforating dermatosis.

    Kawakami T, Akiyama M, Ishida-Yamamoto A, Nakano H, Mitoma C, Yoneda K, Suga Y

    The Journal of dermatology   Vol. 47 ( 12 ) page: 1374-1382   2020.12

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1111/1346-8138.15647

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  15. Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants.

    Murase C, Takeichi T, Nomura T, Ogi T, Akiyama M

    The Journal of investigative dermatology     2020.11

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1016/j.jid.2020.09.035

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  16. Cutaneous extramedullary hematopoiesis in a patient with secondary myelofibrosis due to MPL gene mutation

    Murase Y., Takeichi T., Tanahashi K., Marumo Y., Suzuki Y., Nakamura S., Akiyama M.

    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY     2020.11

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1111/jdv.16990

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  17. Neutrophil extracellular traps are induced in a psoriasis model of interleukin-36 receptor antagonist-deficient mice

    Watanabe Soichiro, Iwata Yohei, Fukushima Hidehiko, Saito Kenta, Tanaka Yoshihito, Hasegawa Yurie, Akiyama Masashi, Sugiura Kazumitsu

    SCIENTIFIC REPORTS   Vol. 10 ( 1 ) page: 20149   2020.11

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1038/s41598-020-76864-y

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  18. A heterozygous SERPINB7 mutation is a possible modifying factor for epidermolytic palmoplantar keratoderma.

    Yoshikawa T, Takeichi T, Ogi T, Suga Y, Muro Y, Akiyama M

    Journal of dermatological science   Vol. 100 ( 2 ) page: 148-151   2020.11

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1016/j.jdermsci.2020.05.001

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  19. Hair graying with aging in mice carrying oncogenic RET.

    Aging cell   Vol. 19 ( 11 ) page: e13273   2020.11

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1111/acel.13273

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  20. Anti-Zo antibodies in Japanese myositis patients detected by a newly developed ELISA.

    Muro Y, Hashimoto T, Izumi S, Ogawa-Momohara M, Takeichi T, Yamashita H, Yasuoka H, Akiyama M

    Clinical and experimental rheumatology     page: .   2020.10

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  21. A case of systemic lupus erythematosus/systemic sclerosis overlap syndrome successfully treated with belimumab.

    Hara M, Ogawa-Momohara M, Muro Y, Takeichi T, Akiyama M

    European journal of dermatology : EJD   Vol. 30 ( 5 ) page: 615-617   2020.10

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1684/ejd.2020.3868

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  22. Acquired reactive perforating collagenosis with chondrodermatitis nodularis chronica helicis

    Murase Yuya, Takeichi Takuya, Tanahashi Kana, Takama Hiroyuki, Akiyama Masashi

    JOURNAL OF DERMATOLOGY   Vol. 47 ( 10 ) page: E362-E364   2020.10

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1111/1346-8138.15525

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  23. Clinical and serological features of dermatomyositis and systemic lupus erythematosus patients with autoantibodies to ADAR1.

    Muro Y, Ogawa-Momohara M, Takeichi T, Fukaya S, Yasuoka H, Kono M, Akiyama M

    Journal of dermatological science   Vol. 100 ( 1 ) page: 82-84   2020.10

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1016/j.jdermsci.2020.08.008

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  24. Classical Vohwinkel syndrome with heterozygous p.Asp66His mutation in GJB2 gene: Second Asian case

    Ikeda Kenta, Takeichi Takuya, Ito Yasutoshi, Kawakami Yoshio, Nakagawa Yuki, Naito Seiko, Yamasaki Osamu, Akiyama Masashi, Morizane Shin

    JOURNAL OF DERMATOLOGY   Vol. 47 ( 10 ) page: E352-E354   2020.10

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1111/1346-8138.15513

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  25. Association of Topical Minoxidil With Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Pathogenic Variants

    Taki Tomoki, Tanahashi Kana, Takeichi Takuya, Yoshikawa Takenori, Murase Yuya, Sugiura Kazumitsu, Akiyama Masashi

    JAMA DERMATOLOGY   Vol. 156 ( 10 ) page: 1030-1032   2020.10

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1001/jamadermatol.2020.2195

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  26. Reducing immunosuppressant use in patients with chronic inflammation during the COVID-19 pandemic: Risks versus benefits

    Ogawa-Momohara Mariko, Muro Yoshinao, Takeichi Takuya, Akiyama Masashi

    JOURNAL OF CUTANEOUS IMMUNOLOGY AND ALLERGY   Vol. 3 ( 5 ) page: 120-121   2020.10

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1002/cia2.12132

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  27. Successful treatment with i.v. immunoglobulin and rituximab for bronchiolitis obliterans associated with paraneoplastic pemphigus.

    Kaibuchi-Ando K, Sugiura K, Muro Y, Takahashi Y, Kojima S, Ishii N, Hashimoto T, Akiyama M

    The Journal of dermatology   Vol. 47 ( 10 ) page: e368-e370   2020.10

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1111/1346-8138.15496

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  28. Exploration of biomarkers to predict clinical improvement of atopic dermatitis in patients treated with dupilumab: A study protocol.

    Nakahara T, Izuhara K, Onozuka D, Nunomura S, Tamagawa-Mineoka R, Masuda K, Ichiyama S, Saeki H, Kabata Y, Abe R, Ohtsuki M, Kamiya K, Okano T, Miyagaki T, Ishiuji Y, Asahina A, Kawasaki H, Tanese K, Mitsui H, Kawamura T, Takeichi T, Akiyama M, Nishida E, Morita A, Tonomura K, Nakagawa Y, Sugawara K, Tateishi C, Kataoka Y, Fujimoto R, Kaneko S, Morita E, Tanaka A, Hide M, Aoki N, Sano S, Matsuda-Hirose H, Hatano Y, Takenaka M, Murota H, Katoh N, Furue M

    Medicine   Vol. 99 ( 38 ) page: e22043   2020.9

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1097/MD.0000000000022043

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  29. IL-36 receptor antagonist deficiency resulted in delayed wound healing due to excessive recruitment of immune cells

    Saito Kenta, Iwata Yohei, Fukushima Hidehiko, Watanabe Soichiro, Tanaka Yoshihito, Hasegawa Yurie, Akiyama Masashi, Sugiura Kazumitsu

    SCIENTIFIC REPORTS   Vol. 10 ( 1 ) page: 14772   2020.9

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1038/s41598-020-71256-8

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  30. Mild epidermolytic ichthyosis with palmoplantar keratoderma due to the KRT1 mutation p.lle479Thr.

    Murase Y, Tanahashi K, Takeichi T, Sugiura K, Aiyama A, Nishida K, Mitsuma T, Akiyama M

    The Journal of dermatology   Vol. 47 ( 9 ) page: e336-e339   2020.9

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    DOI: 10.1111/1346-8138.15476

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  31. Acylceramide is a key player in skin barrier function: insight into the molecular mechanisms of skin barrier formation and ichthyosis pathogenesis

    Akiyama Masashi

    FEBS JOURNAL     2020.8

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1111/febs.15497

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  32. A case of pemphigus with anti-desmoglein 3 and anti-desmocollin 2 and 3 autoantibodies, associated with follicular lymphoma and bronchiolitis obliterans.

    Yoshikawa M, Takeichi T, Taki T, Hayakawa F, Ishii N, Hashimoto T, Muro Y, Akiyama M

    European journal of dermatology : EJD   Vol. 30 ( 4 ) page: 424-425   2020.8

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1684/ejd.2020.3812

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  33. Mutations inFLG, the gene-coding profilaggrin/filaggrin, are associated with putative hay fever in patients with atopic dermatitis

    Minakawa Satoko, Matsuzaki Yasushi, Suwa Hideyuki, Kono Michihiro, Akiyama Masashi, Sawamura Daisuke

    JOURNAL OF CUTANEOUS IMMUNOLOGY AND ALLERGY   Vol. 3 ( 4 ) page: 98 - 100   2020.8

  34. Late-onset Langerhans cell histiocytosis without extracutaneous involvement

    Iwata Mai, Takeichi Takuya, Muro Yoshinao, Akiyama Masashi

    JOURNAL OF CUTANEOUS IMMUNOLOGY AND ALLERGY   Vol. 3 ( 4 ) page: 94-95   2020.8

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1002/cia2.12122

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  35. <i>Staphylococcus</i> Agr virulence is critical for epidermal colonization and associates with atopic dermatitis development.

    Science translational medicine   Vol. 12 ( 551 )   2020.7

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1126/scitranslmed.aay4068

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  36. Recurrent KRT10 Variant in Ichthyosis with Confetti.

    Takeichi T, Suga Y, Mizuno T, Okuno Y, Ichikawa D, Kono M, Lee JYW, McGrath JA, Akiyama M

    Acta dermato-venereologica   Vol. 100 ( 14 ) page: adv00209   2020.7

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.2340/00015555-3570

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  37. A case of late middle age-onset recurrent rheumatic fever

    Shibata A., Yoshikawa T., Makita S., Muro Y., Akiyama M.

    CLINICAL AND EXPERIMENTAL DERMATOLOGY   Vol. 45 ( 5 ) page: 595 - 596   2020.7

  38. A single-centre cohort study on cutaneous manifestations of antinuclear matrix protein 2 antibody-positive dermatomyositis

    Okochi S., Ogawa-Momohara M., Muro Y., Dittmer M. R., Akiyama M.

    CLINICAL AND EXPERIMENTAL DERMATOLOGY   Vol. 45 ( 5 ) page: 591 - 593   2020.7

  39. Annular Sarcoidosis with Geographic Appearance in a Patient with Systemic Sarcoidosis.

    Takama H, Ohshima Y, Ando Y, Yanagishita T, Takahashi E, Tsuzuki T, Uchida K, Eishi Y, Akiyama M, Watanabe D

    Acta dermato-venereologica   Vol. 100 ( 13 ) page: adv00182   2020.6

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.2340/00015555-3508

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  40. A systemic form chronic active Epstein-Barr virus infection diagnosed from erythema nodosum-like skin lesions.

    Shibata A, Ishiguro Y, Makita S, Yamaga Y, Kimura H, Akiyama M

    European journal of dermatology : EJD   Vol. 30 ( 3 ) page: 314-316   2020.6

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1684/ejd.2020.3781

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  41. Real world data of liver injury induced by immune checkpoint inhibitors in Japanese patients with advanced malignancies

    Mizuno Kazuyuki, Ito Takanori, Ishigami Masatoshi, Ishizu Yoji, Kuzuya Teiji, Honda Takashi, Kawashima Hiroki, Inukai Yosuke, Toyoda Hidenori, Yokota Kenji, Hase Tetsunari, Maeda Osamu, Kiyoi Hitoshi, Nagino Masato, Hibi Hideharu, Kodera Yasuhiro, Fujimoto Yasushi, Sone Michihiko, Gotoh Momokazu, Ando Yuichi, Akiyama Masashi, Hasegawa Yoshinori, Fujishiro Mitsuhiro

    JOURNAL OF GASTROENTEROLOGY   Vol. 55 ( 6 ) page: 653-661   2020.6

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1007/s00535-020-01677-9

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  42. Subacute cutaneous lupus erythematosus with melanocyte elimination induced by pembrolizumab.

    Ogawa-Momohara M, Muro Y, Goto K, Obuse C, Satoh M, Kono M, Akiyama M

    The Journal of dermatology   Vol. 47 ( 6 ) page: e217-e219   2020.6

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1111/1346-8138.15316

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  43. Two cases of refractory nail psoriasis successfully treated with calcipotriol plus betamethasone dipropionate gel

    Takama Hiroyuki, Ando Yoriko, Yanagishita Takeshi, Ohshima Yuichiro, Akiyama Masashi, Watanabe Daisuke

    JOURNAL OF DERMATOLOGY   Vol. 47 ( 5 ) page: E211-E213   2020.5

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1111/1346-8138.15314

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  44. KLICK Syndrome Linked to a POMP Mutation Has Features Suggestive of an Autoinflammatory Keratinization Disease

    Takeichi Takuya, Akiyama Masashi

    FRONTIERS IN IMMUNOLOGY   Vol. 11   page: 641   2020.4

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.3389/fimmu.2020.00641

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  45. Frequent FOXA1-Activating Mutations in Extramammary Paget's Disease

    Takeichi Takuya, Okuno Yusuke, Matsumoto Takaaki, Tsunoda Nobuyuki, Suzuki Kyogo, Tanahashi Kana, Kono Michihiro, Kikumori Toyone, Muro Yoshinao, Akiyama Masashi

    CANCERS   Vol. 12 ( 4 )   2020.4

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.3390/cancers12040820

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  46. Generalized Pustular Psoriasis: Clinical Management and Update on Autoinflammatory Aspects

    Takeichi Takuya, Akiyama Masashi

    AMERICAN JOURNAL OF CLINICAL DERMATOLOGY   Vol. 21 ( 2 ) page: 227-236   2020.4

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1007/s40257-019-00492-0

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  47. Deep phenotyping of ichthyosis follicularis with atrichia and photophobia syndrome associated with MBTPS2 mutations

    Murase Chiaki, Takeichi Takuya, Okuno Yusuke, Ikumi Kyoko, Morita Akimichi, Akiyama Masashi

    JOURNAL OF DERMATOLOGY   Vol. 47 ( 3 ) page: E87-E88   2020.3

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1111/1346-8138.15210

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  48. Pembrolizumab-induced psoriasis vulgaris successfully treated with apremilast

    Takama Hiroyuki, Shibata Tomoyuki, Ando Yoriko, Yanagishita Takeshi, Ohshima Yuichiro, Akiyama Masashi, Watanabe Daisuke

    EUROPEAN JOURNAL OF DERMATOLOGY   Vol. 30 ( 2 ) page: 188-190   2020.3

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1684/ejd.2020.3723

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  49. Successful secukinumab treatment of recalcitrant juvenile generalized pustular psoriasis.

    Nishida M, Takeichi T, Kono M, Imanishi A, Maekawa N, Akiyama M, Fukai K

    The Journal of dermatology   Vol. 47 ( 3 ) page: e77-e78   2020.3

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1111/1346-8138.15228

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  50. sQUIZ your knowledge: Multiple subcutaneous nodules symmetrically located on tendinous regions

    Hokari Naohiro, Ogawa-Momohara Mariko, Akiyama Masashi

    EUROPEAN JOURNAL OF DERMATOLOGY   Vol. 30 ( 2 ) page: 226-227   2020.3

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1684/ejd.2020.3803

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  51. Autoinflammatory Keratinization Diseases (AiKDs): Expansion of Disorders to Be Included

    Akiyama Masashi

    FRONTIERS IN IMMUNOLOGY   Vol. 11   page: 280   2020.2

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.3389/fimmu.2020.00280

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  52. A case of brain metastasis in HER2-negative extramammary Paget's disease.

    Maki-Inoue Y, Takeichi T, Sawada M, Fujitani S, Ohashi A, Akiyama M

    European journal of dermatology : EJD     2020.2

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1684/ejd.2019.3681

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  53. Anti-thyroid antibodies and thyroid echo pattern at baseline as risk factors for thyroid dysfunction induced by anti-programmed cell death-1 antibodies: a prospective study

    Okada Norio, Iwama Shintaro, Okuji Takayuki, Kobayashi Tomoko, Yasuda Yoshinori, Wada Eri, Onoue Takeshi, Goto Motomitsu, Sugiyama Mariko, Tsunekawa Taku, Takagi Hiroshi, Hagiwara Daisuke, Ito Yoshihiro, Suga Hidetaka, Banno Ryoichi, Hase Tetsunari, Morise Masahiro, Kanda Mitsuro, Yokota Kenji, Hashimoto Naozumi, Ando Masahiko, Fujimoto Yasushi, Nagino Masato, Kodera Yasuhiro, Fujishiro Mitsuhiro, Hibi Hideharu, Sone Michihiko, Kiyoi Hitoshi, Gotoh Momokazu, Ando Yuichi, Akiyama Masashi, Hasegawa Yoshinori, Arima Hiroshi

    BRITISH JOURNAL OF CANCER   Vol. 122 ( 6 ) page: 771-777   2020.2

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1038/s41416-020-0736-7

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  54. SDR9C7 catalyzes critical dehydrogenation of acylceramides for skin barrier formation.

    Takeichi T, Hirabayashi T, Miyasaka Y, Kawamoto A, Okuno Y, Taguchi S, Tanahashi K, Murase C, Takama H, Tanaka K, Boeglin WE, Calcutt MW, Watanabe D, Kono M, Muro Y, Ishikawa J, Ohno T, Brash AR, Akiyama M

    The Journal of clinical investigation   Vol. 130 ( 2 ) page: 890-903   2020.2

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1172/JCI130675

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  55. A novel NCSTN missense mutation in the signal peptide domain causes hidradenitis suppurativa, which has features characteristic of an autoinflammatory keratinization disease

    Takeichi T., Matsumoto T., Nomura T., Takeda M., Niwa H., Kono M., Shimizu H., Ogi T., Akiyama M.

    BRITISH JOURNAL OF DERMATOLOGY   Vol. 182 ( 2 ) page: 491 - 493   2020.2

  56. Child case of Buruli ulcer successfully treated through a school-based skin survey project in Côte d'Ivoire.

      Vol. 47 ( 2 ) page: e64-e65   2020.2

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    DOI: 10.1111/1346-8138.15148

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  57. Multifaceted Analyses of Epidermal Serine Protease Activity in Patients with Atopic Dermatitis.

    Nomura H, Suganuma M, Takeichi T, Kono M, Isokane Y, Sunagawa K, Kobashi M, Sugihara S, Kajita A, Miyake T, Hirai Y, Yamasaki O, Akiyama M, Morizane S

    International journal of molecular sciences   Vol. 21 ( 3 )   2020.1

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    DOI: 10.3390/ijms21030913

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  58. Pathogenesis of a variant in the 5 ' untranslated region of ADAR1 in dyschromatosis symmetrica hereditaria

    Suganuma Mutsumi, Kono Michihiro, Yamanaka Masayoshi, Akiyama Masashi

    PIGMENT CELL & MELANOMA RESEARCH   Vol. 33 ( 4 ) page: 591-600   2020.1

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1111/pcmr.12863

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  59. TAK-242 ameliorates contact dermatitis exacerbated by IL-36 receptor antagonist deficiency

    Fukushima Hidehiko, Iwata Yohei, Watanabe Soichiro, Saito Kenta, Tanaka Yoshihito, Hasegawa Yurie, Akiyama Masashi, Sugiura Kazumitsu

    SCIENTIFIC REPORTS   Vol. 10 ( 1 ) page: 734   2020.1

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    DOI: 10.1038/s41598-020-57550-5

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  60. A juvenile male case of dermatofibrosarcoma protuberans on the breast

    Murase Y., Takeichi T., Matsumoto T., Sakakibara A., Akiyama M.

    CLINICAL AND EXPERIMENTAL DERMATOLOGY   Vol. 45 ( 1 ) page: 111 - 113   2020.1

  61. A patient with bullous pemphigoid with mucosal involvement serologically positive for anti-BP230 autoantibodies only

    Taki T., Takeichi T., Kono M., Sugiura K., Sugimura Y., Ishii N., Hashimoto T., Akiyama M.

    BRITISH JOURNAL OF DERMATOLOGY   Vol. 182 ( 1 ) page: 221 - 223   2020.1

  62. Unique reticular hyperkeratotic eruptions seen in a patient with Darier's disease and attention deficit hyperactivity disorder

    Yoshikawa T., Takeichi T., Suga Y., Kitajima Y., Akiyama M.

    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY   Vol. 34 ( 1 ) page: E41 - E43   2020.1

  63. Remodelling of calcinosis cutis in a patient with scleroderma overlap syndrome

    Dittmer M. R., Ogawa-Momohara M., Muro Y., Kono M., Akiyama M.

    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY   Vol. 34 ( 1 ) page: E20 - E21   2020.1

  64. Atopic dermatitis without serum immunoglobulin E elevation or loss-of-function filaggrin gene mutation in a patient with X-linked agammaglobulinemia

    Yamazaki Emi, Kikuchi Katsuko, Sasahara Yoji, Kono Michihiro, Akiyama Masashi, Aiba Setsuya

    JOURNAL OF DERMATOLOGY   Vol. 47 ( 1 ) page: 58-60   2020.1

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    DOI: 10.1111/1346-8138.15154

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  65. Case of erythrokeratodermia variabilis successfully treated with narrowband ultraviolet B

    Okuda Kayoko, Nishida Emi, Tori Kan, Matubara Akihiro, Sagawa Yoko, Takeichi Takuya, Akiyama Masashi, Morita Akimichi

    JOURNAL OF DERMATOLOGY   Vol. 47 ( 1 ) page: E30-E31   2020.1

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    DOI: 10.1111/1346-8138.15110

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  66. Homozygous variant p.Ser427Pro in PNPLA1 is a preventive factor from atopic dermatitis

    Watanabe Naoki, Kono Michihiro, Suganuma Mutsumi, Tanahashi Kana, Akiyama Masashi

    JOURNAL OF DERMATOLOGICAL SCIENCE   Vol. 97 ( 1 ) page: 86-88   2020.1

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1016/j.jdermsci.2019.12.006

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  67. Reduced stratum corneum acylceramides in autosomal recessive congenital ichthyosis with a NIPAL4 mutation

    Murase Yuya, Takeichi Takuya, Kawamoto Akane, Tanahashi Kana, Okuno Yusuke, Takama Hiroyuki, Shimizu Eri, Ishikawa Junko, Ogi Tomoo, Akiyama Masashi

    JOURNAL OF DERMATOLOGICAL SCIENCE   Vol. 97 ( 1 ) page: 50-56   2020.1

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    DOI: 10.1016/j.jdermsci.2019.12.001

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  68. Editorial: Autoinflammatory Keratinization Disease (AiKD).

    Akiyama M, De Vita V, Sugiura K

    Frontiers in immunology   Vol. 11   page: 1753   2020

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    DOI: 10.3389/fimmu.2020.01753

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  69. Pituitary dysfunction induced by immune checkpoint inhibitors is associated with better overall survival in both malignant melanoma and non-small cell lung carcinoma: a prospective study

    Kobayashi Tomoko, Iwama Shintaro, Yasuda Yoshinori, Okada Norio, Okuji Takayuki, Ito Masaaki, Onoue Takeshi, Goto Motomitsu, Sugiyama Mariko, Tsunekawa Taku, Takagi Hiroshi, Hagiwara Daisuke, Ito Yoshihiro, Suga Hidetaka, Banno Ryoichi, Yokota Kenji, Hase Tetsunari, Morise Masahiro, Hashimoto Naozumi, Ando Masahiko, Fujimoto Yasushi, Hibi Hideharu, Sone Michihiko, Ando Yuichi, Akiyama Masashi, Hasegawa Yoshinori, Arima Hiroshi

    JOURNAL FOR IMMUNOTHERAPY OF CANCER   Vol. 8 ( 2 )   2020

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    DOI: 10.1136/jitc-2020-000779

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  70. Oculodentodigital Dysplasia Diagnosed from Severe Hypotrichosis

    Taki Tomoki, Takeichi Takuya, Sugiura Kazumitsu, Akiyama Masashi

    ACTA DERMATO-VENEREOLOGICA   Vol. 99 ( 13 ) page: 1307-1308   2019.12

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.2340/00015555-3277

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  71. Response to: 'Anti-Ku antibodies: important points to consider' by Mahler <i>et al</i>.

    Ogawa-Momohara M, Muro Y, Akiyama M

    Annals of the rheumatic diseases     2019.11

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    DOI: 10.1136/annrheumdis-2019-216595

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  72. Antiphospholipid antibody-positive Sjögren's syndrome with leg ulcers.

      Vol. 46 ( 11 ) page: e429-e430   2019.11

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    DOI: 10.1111/1346-8138.15014

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  73. Ganciclovir pre-emptive therapy for cytomegalovirus antigenemia in a pemphigus vulgaris patient.

    Shibata A, Yoshikawa T, Makita S, Takami N, Matsuzaki T, Sugiyama Y, Akiyama M

    The Journal of dermatology   Vol. 46 ( 11 ) page: e423-e424   2019.11

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    DOI: 10.1111/1346-8138.15023

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  74. Japanese real-world study of sequential nivolumab and ipilimumab treament in melanoma.

    Tsutsumida A, Fukushima S, Yokota K, Yoshikawa S, Yamasaki O, Tanemura A, Okuyama R, Uhara H, Muto Y, Miyashita A, Akiyama M, Kaji T, Koga H, Kato J, Katayama T, Itakura E, Yamazaki N, Kiyohara Y

    The Journal of dermatology   Vol. 46 ( 11 ) page: 947-955   2019.11

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    DOI: 10.1111/1346-8138.15073

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  75. Successful treatment of pustulotic arthro-osteitis with apremilast: a case report with follow-up MRI

    Takama Hiroyuki, Ando Yoriko, Yanagishita Takeshi, Ohshima Yuichiro, Akiyama Masashi, Watanabe Daisuke

    EUROPEAN JOURNAL OF DERMATOLOGY   Vol. 29 ( 6 ) page: 656-658   2019.11

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1684/ejd.2019.3660

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  76. Overlap of systemic lupus erythematosus and myositis is rare in anti-Ku antibody-positive patients.

    Ogawa-Momohara M, Muro Y, Akiyama M

    Annals of the rheumatic diseases     2019.10

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    DOI: 10.1136/annrheumdis-2019-216375

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  77. Drug-induced acute eosinophilic pneumonia due to hydroxychloroquine in a chilblain lupus patient

    Ishiguro Yuri, Muro Yoshinao, Murase Chiaki, Takeichi Takuya, Kono Michihiro, Adachi Runa, Takahashi Kazuomi, Akiyama Masashi

    JOURNAL OF DERMATOLOGY   Vol. 46 ( 10 ) page: E356-E357   2019.10

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    DOI: 10.1111/1346-8138.14905

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  78. Clinical characteristics of anti-Ro52α and anti-Ro52β antibodies in dermatomyositis/polymyositis.

      Vol. 96 ( 1 ) page: 50-52   2019.10

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    DOI: 10.1016/j.jdermsci.2019.08.002

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  79. Case of herpes zoster complicated with paralysis of the recurrent and glossopharyngeal nerves.

    Shibata A, Yoshikawa T, Makita S, Ueda Y, Akiyama M

    The Journal of dermatology   Vol. 46 ( 10 ) page: e348-e350   2019.10

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    DOI: 10.1111/1346-8138.14942

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  80. Pityriasis rubra pilaris type V with a heterozygous mutation in CARD14

    Miyauchi T., Nomura T., Suzuki S., Takeda M., Peh J., Natsuga K., Fujita Y., Nishie W., Akiyama M., Shimizu H.

    JOURNAL OF INVESTIGATIVE DERMATOLOGY   Vol. 139 ( 9 ) page: S265-S265   2019.9

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  81. Hailey-Hailey disease with oesophageal involvement due to a previously unreported ATP2C1 mutation.

    Kono M, Kodera M, Inasaka Y, Hasegawa I, Muro Y, Nakazawa Y, Ogi T, Akiyama M

    European journal of dermatology : EJD     2019.8

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    DOI: 10.1684/ejd.2019.3507

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  82. A case of recurrent Stevens-Johnson syndrome caused by nivolumab therapy.

    Shibata A, Yoshikawa T, Makita S, Nakagawa S, Ueda Y, Akiyama M

    European journal of dermatology : EJD     2019.7

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    DOI: 10.1684/ejd.2019.3550

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  83. Studies on differentiation-dependent expression and activity of distinct transglutaminases by specific substrate peptides using three-dimensional reconstituted epidermis

    Tanabe Yuki, Yamane Miki, Kato Manami, Teshima Hirofumi, Kuribayashi Miki, Tatsukawa Hideki, Takama Hiroyuki, Akiyama Masashi, Hitomi Kiyotaka

    FEBS JOURNAL   Vol. 286 ( 13 ) page: 2536-2548   2019.7

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    DOI: 10.1111/febs.14832

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  84. CASE REPORT: ADVANCED MELANOMA PATIENT WITH FAVORABLE RESPONSE TO IMMUNE CHECKPOINT INHIBITOR TREATMENT SHOWS SEVERE ERYTHEMA CIRCINATUM WITH ANTI-SS-A ANTIBODIES

    Ogawa-Momohara Mariko, Muro Yoshinao, Goto Katsunobu, Obuse Chikashi, Satoh Minoru, Kono Michihiro, Akiyama Masashi

    ANNALS OF THE RHEUMATIC DISEASES   Vol. 78   page: 1481 - 1482   2019.6

  85. CLINICAL CHARACTERISTICS OF ANTI-RO52A AND ANTI-RO52B ANTIBODIES IN DERMATOMYOSITIS/POLYMYOSITIS

    Ogawa-Momohara Mariko, Muro Yoshinao, Akiyama Masashi

    ANNALS OF THE RHEUMATIC DISEASES   Vol. 78   page: 851-852   2019.6

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    DOI: 10.1136/annrheumdis-2019-eular.1898

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  86. Acrodermatitis continua of Hallopeau with dense infiltration of IgG4-positive cells in the lesional dermis

    Ogawa-Momohara M., Muro Y., Nakaguro M., Takeichi T., Kono M., Akiyama M.

    BRITISH JOURNAL OF DERMATOLOGY   Vol. 180 ( 4 ) page: 941-942   2019.4

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1111/bjd.17405

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  87. Anti-Mi-2 antibody titers and cutaneous manifestations in dermatomyositis

    Ogawa-Momohara Mariko, Muro Yoshinao, Akiyama Masashi

    JOURNAL OF CUTANEOUS IMMUNOLOGY AND ALLERGY   Vol. 2 ( 2 ) page: 49-52   2019.4

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1002/cia2.12048

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  88. Congenital ichthyoses: there is always more to learn about managing these rare and complex diseases

    Akiyama M.

    BRITISH JOURNAL OF DERMATOLOGY   Vol. 180 ( 3 ) page: 449-450   2019.3

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1111/bjd.17105

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  89. Somatic recombination underlies frequent revertant mosaicism in loricrin keratoderma.

    Suzuki S, Nomura T, Miyauchi T, Takeda M, Fujita Y, Nishie W, Akiyama M, Ishida-Yamamoto A, Shimizu H

    Life science alliance   Vol. 2 ( 1 )   2019.2

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.26508/lsa.201800284

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  90. The lipoxygenase-hepoxilin pathway is activated in cutaneous plaque lesions of psoriasis

    Takeichi Takuya, Kinoshita Fumie, Tanaka Hirotaka, Fujita Setsuko, Kobayashi Yumiko, Nakatochi Masahiro, Sugiura Kazumitsu, Akiyama Masashi

    JOURNAL OF CUTANEOUS IMMUNOLOGY AND ALLERGY   Vol. 2 ( 1 ) page: 15-24   2019.2

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1002/cia2.12039

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  91. Multiple pebble-like ectopic nails as a subsequent complication of phenol cauterization treatment for onychocryptosis.

    Fujita-Tanaka H, Kono M, Sakakibara A, Akiyama M

    The Journal of dermatology     2019.1

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    DOI: 10.1111/1346-8138.14779

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  92. Unilateral case of multiple minute digitate hyperkeratosis.

    Okochi S, Kono M, Takama H, Takeichi T, Muro Y, Akiyama M

    The Journal of dermatology     2019.1

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    DOI: 10.1111/1346-8138.14777

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  93. A Japanese Case of Galli-Galli Disease due to a Previously Unreported POGLUT1 Mutation.

    Kono M, Sawada M, Nakazawa Y, Ogi T, Muro Y, Akiyama M

    Acta dermato-venereologica     2019.1

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    DOI: 10.2340/00015555-3119

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  94. Aberrant CARD14 function might cause defective barrier formation.

    Murase Y, Takeichi T, Akiyama M

    The Journal of allergy and clinical immunology     2019.1

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1016/j.jaci.2018.11.044

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  95. Dyschromatosis symmetrica hereditaria and reticulate acropigmentation of Kitamura: An update.

    Kono M, Akiyama M

    Journal of dermatological science     2019.1

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    DOI: 10.1016/j.jdermsci.2019.01.004

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  96. Brooke-Spiegler syndrome with chronic obstructive pulmonary disease and chronic sinusitis.

    Hattori Y, Takeichi T, Akiyama M, Seishima M

    The Journal of dermatology     2019.1

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    DOI: 10.1111/1346-8138.14748

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  97. Equestrian cold panniculitis in a cold-storage-room worker.

    Adachi A, Masaki S, Akiyama M

    The Journal of dermatology     2019.1

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    DOI: 10.1111/1346-8138.14772

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  98. Prognosis of dysphagia in dermatomyositis.

    Ogawa-Momohara M, Muro Y, Kono M, Akiyama M

    Clinical and experimental rheumatology   Vol. 37 ( 1 ) page: 165   2019.1

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  99. [Successful treatment of pre-engraftment disseminated fusariosis with high-dose liposomal amphotericin B in a cord blood transplant recipient].

    Harada Y, Murata M, Matsumoto A, Kato D, Yagi T, Yaguchi T, Yoshikawa T, Takeichi T, Akiyama M, Yamaguchi Y, Koyama D, Terakura S, Nishida T, Kiyoi H

    [Rinsho ketsueki] The Japanese journal of clinical hematology   Vol. 60 ( 12 ) page: 1641 - 1646   2019

  100. Prognosis of dysphagia in dermatomyositis

    Ogawa-Momohara M., Muro Y., Kono M., Akiyama M.

    CLINICAL AND EXPERIMENTAL RHEUMATOLOGY   Vol. 37 ( 1 ) page: 165-165   2019

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  101. Early-onset generalized pustular psoriasis is representative of autoinflammatory keratinization diseases.

    Akiyama M

    The Journal of allergy and clinical immunology     2018.12

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1016/j.jaci.2018.11.009

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  102. Reduction of stratum corneum ceramides in Neu-Laxova syndrome caused by phosphoglycerate dehydrogenase deficiency

    Takeichi Takuya, Okuno Yusuke, Kawamoto Akane, Inoue Takeshi, Nagamoto Eiko, Murase Chiaki, Shimizu Eri, Tanaka Kenichi, Kageshita Yuichi, Fukushima Satoshi, Kono Michihiro, Ishikawa Junko, Ihn Hironobu, Takahashi Yoshiyuki, Akiyama Masashi

    JOURNAL OF LIPID RESEARCH   Vol. 59 ( 12 ) page: 2413-2420   2018.12

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    DOI: 10.1194/jlr.P087536

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  103. Autosomal dominant progressive hyperpigmentation and lentigines in a Japanese pedigree due to a missense mutation near the C-terminus of KIT

    Takeichi T., Sugiura K., Tanahashi K., Noda K., Kono M., Akiyama M.

    BRITISH JOURNAL OF DERMATOLOGY   Vol. 179 ( 5 ) page: 1210-1211   2018.11

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1111/bjd.16895

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  104. Girdin/GIV regulates collective cancer cell migration by controlling cell adhesion and cytoskeletal organization

    Wang Xiaoze, Enomoto Atsushi, Weng Liang, Mizutani Yasuyuki, Abudureyimu Shaniya, Esaki Nobutoshi, Tsuyuki Yuta, Chen Chen, Mii Shinji, Asai Naoya, Haga Hisashi, Ishida Sumire, Yokota Kenji, Akiyama Masashi, Takahashi Masahide

    CANCER SCIENCE   Vol. 109 ( 11 ) page: 3643-3656   2018.11

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1111/cas.13795

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  105. Dipeptidyl Peptidase-4 Inhibitor-associated Bullous Pemphigoid: Recurrence with Epitope Spreading

    Takama Hiroyuki, Yoshida Makiko, Izumi Kentaro, Yanagishista Takeshi, Muto Jun, Ohshima Yuichiro, Nishie Wataru, Shimizu Hiroshi, Akiyama Masashi, Watanabe Daisuke

    ACTA DERMATO-VENEREOLOGICA   Vol. 98 ( 10 ) page: 983-984   2018.11

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    DOI: 10.2340/00015555-3010

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  106. Cross-sectional survey on disease severity in Japanese patients with harlequin ichthyosis/ichthyosis: Syndromic forms and quality-of-life analysis in a subgroup.

    Murase C, Takeichi T, Shibata A, Nakatochi M, Kinoshita F, Kubo A, Nakajima K, Ishii N, Amano H, Masuda K, Kawakami H, Kanekura T, Washio K, Asano M, Teramura K, Akasaka E, Tohyama M, Hatano Y, Ochiai T, Moriwaki S, Sato T, Ishida-Yamamoto A, Seishima M, Kurosawa M, Ikeda S, Akiyama M

    Journal of dermatological science   Vol. 92 ( 2 ) page: 127-133   2018.11

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    DOI: 10.1016/j.jdermsci.2018.08.008

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  107. Hearing impairment: A secondary symptom in a congenital ichthyosiform erythroderma patient with ABCA12 mutations

    Murase Chiaki, Takeichi Takuya, Sugiura Kazumitsu, Kobayashi Miki, Shiomi Kozue, Ikebuchi Kaichiro, Tsutsumi Yutaka, Akiyama Masashi

    JOURNAL OF DERMATOLOGY   Vol. 45 ( 11 ) page: E303-E304   2018.11

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    DOI: 10.1111/1346-8138.14350

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  108. Sterol profiles are valuable biomarkers for phenotype expression of Conradi-Hunermann-Happle syndrome with EBP mutations

    Takeichi T., Honda A., Okuno Y., Kojima D., Kono M., Nakamura Y., Tohyama M., Tanaka T., Aoyama Y., Akiyama M.

    BRITISH JOURNAL OF DERMATOLOGY   Vol. 179 ( 5 ) page: 1186-1188   2018.11

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1111/bjd.16823

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  109. Japanese guidelines for the management and treatment of generalized pustular psoriasis: The new pathogenesis and treatment of GPP

    Fujita Hideki, Terui Tadashi, Hayama Koremasa, Akiyama Masashi, Ikeda Shigaku, Mabuchi Tomotaka, Ozawa Akira, Kanekura Takuro, Kurosawa Michiko, Komine Mayumi, Nakajima Kimiko, Sano Shigetoshi, Nemoto Osamu, Muto Masahiko, Imai Yasutomo, Yamanishi Kiyofumi, Aoyama Yumi, Iwatsuki Keiji

    JOURNAL OF DERMATOLOGY   Vol. 45 ( 11 ) page: 1235-1270   2018.11

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    DOI: 10.1111/1346-8138.14523

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  110. Mild Hailey-Hailey disease cases with aberrant splicing variants of ATP2C1 successfully controlled with excimer light

    Kono M., Niizawa M., Takeichi T., Muro Y., Akiyama M.

    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY   Vol. 32 ( 11 ) page: E413-E416   2018.11

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1111/jdv.15004

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  111. Dyschromatosis symmetrica hereditaria may be successfully controlled by topical sunscreen.

    Kono M, Okamoto T, Takeichi T, Muro Y, Akiyama M

    European journal of dermatology : EJD     2018.10

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    DOI: 10.1684/ejd.2018.3415

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  112. Indeterminate dendritic cell neoplasm accompanied by eosinophilic pneumonia successfully treated by systemic steroid therapy: Report of the first case with muscular and parotid involvement and review of published work.

    Kiyohara T, Nakamaru S, Miyamoto M, Shijimaya T, Nagano N, Makimura K, Takama H, Akiyama M, Tanimura H

    The Journal of dermatology     2018.10

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    DOI: 10.1111/1346-8138.14673

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  113. More than keratitis, ichthyosis, and deafness: multisystem effects of lethal GJB2 mutations.

    Lilly E, Bunick CG, Maley AM, Zhang S, Spraker MK, Theos AJ, Vivar KL, Seminario-Vidal L, Bennett AE, Sidbury R, Ogawa Y, Akiyama M, Binder B, Hadj-Rabia S, Morotti RA, Glusac EJ, Choate KA, Richard G, Milstone LM

    Journal of the American Academy of Dermatology     2018.10

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1016/j.jaad.2018.09.042

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  114. Case of mild X-linked ichthyosis complicated with paroxysmal supraventricular tachycardia and anemia.

    Maki Y, Takeichi T, Kono M, Tanaka Y, Akiyama M

    The Journal of dermatology   Vol. 45 ( 10 ) page: e275-e276   2018.10

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    DOI: 10.1111/1346-8138.14307

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  115. Deficiency of the interleukin-36 receptor antagonist dramatically improved by secukinumab

    Kinoshita Manao, Okamoto Takashi, Sano Shinya, Mitsui Hiroshi, Takeichi Takuya, Sugiura Kazumitsu, Akiyama Masashi, Shimada Shinji, Kawamura Tatsuyoshi

    JOURNAL OF DERMATOLOGY   Vol. 45 ( 10 ) page: E280-E281   2018.10

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    DOI: 10.1111/1346-8138.14330

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  116. Dyschromatosis symmetrica hereditaria with chilblains due to a novel two-amino-acid deletion in the double-stranded RNA-binding domain of ADAR1

    Kono M., Suganuma M., Shimada T., Ishikura Y., Watanabe S., Takeichi T., Muro Y., Akiyama M.

    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY   Vol. 32 ( 10 ) page: E394-E396   2018.10

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    DOI: 10.1111/jdv.15076

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  117. Familial or sporadic porokeratosis as an autoinflammatory keratinization disease.

    Takeichi T, Akiyama M

    The Journal of dermatology     2018.9

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    DOI: 10.1111/1346-8138.14666

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  118. Increased healthcare costs for filaggrin-related eczema and asthma: hope for targeted management and prevention

    Akiyama M., Bray N.

    BRITISH JOURNAL OF DERMATOLOGY   Vol. 179 ( 3 ) page: 564-565   2018.9

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    DOI: 10.1111/bjd.16819

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  119. Hyaline vascular-type unicentric Castleman disease presenting as a subcutaneous nodule in a child.

    Hanamura T, Kono M, Yokota K, Takeichi T, Kohno K, Nakamura S, Mitsuma T, Nakajima K, Muro Y, Akiyama M

    The Journal of dermatology     2018.8

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    DOI: 10.1111/1346-8138.14626

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  120. Roles of aberrant hemichannel activities due to mutant connexin26 in the pathogenesis of KID syndrome

    Taki T., Takeichi T., Sugiura K., Akiyama M.

    SCIENTIFIC REPORTS   Vol. 8   2018.8

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    DOI: 10.1038/s41598-018-30757-3

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  121. Case of adult-onset Still's disease with psoriasiform eruptions.

    Ito Y, Takeichi T, Koide T, Akiyama M

    The Journal of dermatology     2018.8

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    DOI: 10.1111/1346-8138.14613

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  122. Bilateral striatal necrosis and dyschromatosis symmetrica hereditaria: A-I editing efficiency of ADAR1 mutants and phenotype expression

    Kono M., Suganuma M., Dutta A., Ghosh S. K., Takeichi T., Muro Y., Akiyama M.

    BRITISH JOURNAL OF DERMATOLOGY   Vol. 179 ( 2 ) page: 509-511   2018.8

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    DOI: 10.1111/bjd.16610

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  123. Two cases of generalized pustular psoriasis complicated by IgG4-related disease

    Miyazawa H., Fujita Y., Iwata H., Ishikawa Y., Nishio S., Ishijima K., Shinmei Y., Takeichi T., Goto K., Oi R., Akiyama M., Shimizu H.

    BRITISH JOURNAL OF DERMATOLOGY   Vol. 179 ( 2 ) page: 537-539   2018.8

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    DOI: 10.1111/bjd.16712

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  124. Urticarial vasculitis and subcutaneous nodules in the extremities seen in a patient with mucopolysaccharidosis II after hematopoietic stem cell therapy.

    Shibata A, Yoshikawa T, Makita S, Takama H, Arakawa T, Akiyama M

    The Journal of dermatology     2018.7

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    DOI: 10.1111/1346-8138.14585

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  125. Filaggrin gene mutations may influence the persistence of food allergies in Japanese primary school children

    Kono M., Akiyama M., Inoue Y., Nomura T., Hata A., Okamoto Y., Takeichi T., Muro Y., McLean W. H. I., Shimizu H., Sugiura K., Suzuki Y., Shimojo N.

    BRITISH JOURNAL OF DERMATOLOGY   Vol. 179 ( 1 ) page: 190-191   2018.7

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    DOI: 10.1111/bjd.16375

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  126. Mild case of Hailey-Hailey disease caused by a novel ATP2C1 mutation

    Hanamura Takuya, Takeichi Takuya, Okuno Yusuke, Ichikawa Daisuke, Kono Michihiro, Akiyama Masashi

    JOURNAL OF DERMATOLOGY   Vol. 45 ( 7 ) page: E207-E208   2018.7

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    DOI: 10.1111/1346-8138.14241

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  127. The benefits of high-resolution, real-time colour-imaging of lymphatic flow for sentinel lymph node biopsy.

    Yokota K, Matsumoto T, Urata T, Goto K, Kono M, Akiyama M

    European journal of dermatology : EJD     2018.6

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    DOI: 10.1684/ejd.2018.3342

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  128. Dyshidrosiform pemphigoid restricted to the soles

    Hioki Tomoyuki, Shibata Akitaka, Makita Sumiko, Akiyama Masashi

    INTERNATIONAL JOURNAL OF DERMATOLOGY   Vol. 57 ( 6 ) page: 742-743   2018.6

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    DOI: 10.1111/ijd.13992

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  129. Late-Onset Fulminant Myocarditis With Immune Checkpoint Inhibitor Nivolumab

    Yamaguchi Shogo, Morimoto Ryota, Okumura Takahiro, Yamashita Yuta, Haga Tomoaki, Kuwayama Tasuku, Yokoi Tsuyoshi, Hiraiwa Hiroaki, Kondo Toru, Sugiura Yuki, Watanabe Naoki, Kano Naoaki, Kohno Kei, Fukaya Kenji, Sawamura Akinori, Yokota Kenji, Ishii Hideki, Nakaguro Masato, Akiyama Masashi, Murohara Toyoaki

    CANADIAN JOURNAL OF CARDIOLOGY   Vol. 34 ( 6 ) page: 812.e1-812.e3   2018.6

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    DOI: 10.1016/j.cjca.2018.03.007

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  130. Strong correlation between cancer progression and anti-transcription intermediary factor 1γ antibodies in dermatomyositis patients.

        page: .   2018.5

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  131. Autoinflammatory keratinization diseases: An emerging concept encompassing various inflammatory keratinization disorders of the skin

    Akiyama Masashi, Takeichi Takuya, McGrath John A., Sugiura Kazumitsu

    JOURNAL OF DERMATOLOGICAL SCIENCE   Vol. 90 ( 2 ) page: 105-111   2018.5

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    DOI: 10.1016/j.jdermsci.2018.01.012

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  132. Author's response to the comment to "Compound heterozygotes for filaggrin gene mutations do not always show severe atopic dermatitis'

    Sekiya A., Kono M., Akiyama M.

    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY   Vol. 32 ( 5 ) page: E178-E179   2018.5

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    DOI: 10.1111/jdv.14688

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  133. Analysis of genotype/phenotype correlations in Japanese patients with dyschromatosis symmetrica hereditaria

    Kobayashi Tomoko, Kono Michihiro, Suganuma Mutsumi, Akita Hirotaka, Takai Ayaka, Tsutsui Kiyohiro, Inasaka Yu, Takeichi Takuya, Muro Yoshinao, Akiyama Masashi

    NAGOYA JOURNAL OF MEDICAL SCIENCE   Vol. 80 ( 2 ) page: 267-277   2018.5

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    DOI: 10.18999/nagjms.80.2.267

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  134. An infant with generalized pustular psoriasis and geographic tongue had a heterozygous IL36RN mutation and IgG2 deficiency

    Oi Risako, Takeichi Takuya, Okuno Yusuke, Kojima Daiei, Sugawara Kyoko, Kono Michihiro, Muramatsu Hideki, Akiyama Masashi

    JOURNAL OF DERMATOLOGICAL SCIENCE   Vol. 90 ( 2 ) page: 216-218   2018.5

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    DOI: 10.1016/j.jdermsci.2018.01.017

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  135. Hidradenitis suppurativa as an autoinflammatory keratinization disease Reply

    Akiyama Masashi

    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY   Vol. 141 ( 5 ) page: 1953-1954   2018.5

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    DOI: 10.1016/j.jaci.2018.01.011

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  136. National survey of quality of life and disease severity in patients with congenital ichthyosis

    Murase C., Takeichi T., Shibata A., Nakatochi M., Kinoshita F., Ikeda S., Kurosawa M., Akiyama M.

    JOURNAL OF INVESTIGATIVE DERMATOLOGY   Vol. 138 ( 5 ) page: S44 - S44   2018.5

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  137. Hand, Foot, and Mouth Disease in an Adult

    Murase Chiaki, Akiyama Masashi

    NEW ENGLAND JOURNAL OF MEDICINE   Vol. 378 ( 14 ) page: E20-E20   2018.4

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    DOI: 10.1056/NEJMicm1713548

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  138. CD1a-positive cutaneous mastocytosis: Electron microscopic evidence of pleomorphic mast cell proliferation

    Kiyohara Takahiro, Nagano Naoko, Terai Sayaka, Nakamaru Sei, Makimura Kaoru, Takama Hiroyuki, Akiyama Masashi, Tanimura Hirotsugu

    JOURNAL OF DERMATOLOGY   Vol. 45 ( 4 ) page: E86-E87   2018.4

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    DOI: 10.1111/1346-8138.14113

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  139. Chromosomal inversions as a hidden disease-modifying factor for somatic recombination phenotypes

    Nomura Toshifumi, Suzuki Shotaro, Miyauchi Toshinari, Takeda Masae, Shinkuma Satoru, Fujita Yasuyuki, Nishie Wataru, Akiyama Masashi, Shimizu Hiroshi

    JCI INSIGHT   Vol. 3 ( 6 )   2018.3

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    DOI: 10.1172/jci.insight.97595

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  140. Dermoscopic features of endocrine mucin-producing sweat gland carcinoma

    Hasegawa-Murakami Yoshie, Kono Michihiro, Yokota Kenji, Inaba Hiroko, Fukumoto Takaya, Akiyama Masashi

    JOURNAL OF DERMATOLOGY   Vol. 45 ( 3 ) page: 353-356   2018.3

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    DOI: 10.1111/1346-8138.14146

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  141. Highly variable clinical feature and course of aggressive digital papillary adenocarcinoma

    Yokota Kenji, Kono Michihiro, Shimizu Kazue, Sakakibara Akihiro, Akiyama Masashi

    JOURNAL OF DERMATOLOGY   Vol. 45 ( 3 ) page: 357-360   2018.3

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    DOI: 10.1111/1346-8138.14159

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  142. Patients With Antithyroid Antibodies Are Prone To Develop Destructive Thyroiditis by Nivolumab: A Prospective Study

    Kobayashi Tomoko, Iwama Shintaro, Yasuda Yoshinori, Okada Norio, Tsunekawa Taku, Onoue Takeshi, Takagi Hiroshi, Hagiwara Daisuke, Ito Yoshihiro, Morishita Yoshiaki, Goto Motomitsu, Suga Hidetaka, Banno Ryoichi, Yokota Kenji, Hase Tetsunari, Morise Masahiro, Hashimoto Naozumi, Ando Masahiko, Kiyoi Hitoshi, Gotoh Momokazu, Ando Yuichi, Akiyama Masashi, Hasegawa Yoshinori, Arima Hiroshi

    JOURNAL OF THE ENDOCRINE SOCIETY   Vol. 2 ( 3 ) page: 241-251   2018.3

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    DOI: 10.1210/js.2017-00432

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  143. Pansclerotic morphea associated with hypohidrosis and anti-M3 muscarinic acetylcholine receptor antibodies

    Fujita-Tanaka H., Ogawa Y., Muro Y., Ogawa-Momohara M., Asashima H., Tsuboi H., Sumida T., Akiyama M.

    BRITISH JOURNAL OF DERMATOLOGY   Vol. 178 ( 3 ) page: E210-E211   2018.3

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    DOI: 10.1111/bjd.16021

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  144. A novel IFIH1 mutation in the pincer domain underlies the clinical features of both Aicardi-Goutieres and Singleton-Merten syndromes in a single patient

    Takeichi T., Katayama C., Tanaka T., Okuno Y., Murakami N., Kono M., Sugiura K., Aoyama Y., Akiyama M.

    BRITISH JOURNAL OF DERMATOLOGY   Vol. 178 ( 2 ) page: E111-E113   2018.2

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    DOI: 10.1111/bjd.15869

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  145. Trichothiodystrophy, complementation group A complicated with squamous cell carcinoma

    Takeichi T., Tomimura S., Okuno Y., Hamada M., Kono M., Sugiura K., Akiyama M.

    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY   Vol. 32 ( 2 ) page: E75-E77   2018.2

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    DOI: 10.1111/jdv.14531

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  146. Multiple keratotic papules and plaques on the trunk in Cowden's disease with MALT lymphoma

    Mizuno Sayaka, Takeichi Takuya, Sato Junichi, Nakamura Masanao, Goto Hidemi, Sugiura Kazumitsu, Akiyama Masashi

    JOURNAL OF DERMATOLOGY   Vol. 45 ( 2 ) page: 238-240   2018.2

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    DOI: 10.1111/1346-8138.13851

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  147. Adult Staphylococcal Scalded Skin Syndrome Successfully Treated with Multimodal Therapy Including Intravenous Immunoglobulin

    Urata Toru, Kono Michihiro, Ishihara Yuka, Akiyama Masashi

    ACTA DERMATO-VENEREOLOGICA   Vol. 98 ( 1 ) page: 136-137   2018.1

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    DOI: 10.2340/00015555-2770

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  148. Cytomegalovirus reactivation accompanied by varicella zoster virus reactivation or reinfection in an adult patient of multiple myeloma during bortezomib therapy

    Hioki Tomoyuki, Takama Hiroyuki, Makita Sumiko, Watanabe Kazuko, Watanabe Daisuke, Akiyama Masashi

    JOURNAL OF DERMATOLOGY   Vol. 45 ( 1 ) page: 108-109   2018.1

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    DOI: 10.1111/1346-8138.13744

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  149. Hailey-Hailey disease due to ATP2C1 splice site mutation, successfully treated with minocycline hydrochloride

    Kono M., Niizawa M., Takeichi T., Muro Y., Akiyama M.

    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY   Vol. 32 ( 1 ) page: E19-E20   2018.1

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    DOI: 10.1111/jdv.14439

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  150. Hyper-IgE syndrome with a novel mutation of the STAT3 gene (vol 41, pg 687, 2016)

    Minakawa S., Tanaka H., Kaneko T., Matsuzaki Y., Kono M., Akiyama M., Minegishi Y., Sawamura D.

    CLINICAL AND EXPERIMENTAL DERMATOLOGY   Vol. 43 ( 1 ) page: 113 - 113   2018.1

  151. Granulomatous pigmented purpuric dermatosis containing Propionibacterium acnes

    Takama Hiroyuki, Yanagishista Takeshi, Muto Jun, Ohshima Yuichiro, Takahashi Emiko, Tsuzuki Toyonori, Uchida Keisuke, Eishi Yoshinobu, Akiyama Masashi, Watanabe Daisuke

    EUROPEAN JOURNAL OF DERMATOLOGY   Vol. 28 ( 4 ) page: 540-542   2018

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    DOI: 10.1684/ejd.2018.3329

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  152. Eosinophilia and systemic symptoms with transient ageusia: a drug reaction caused by zonisamide

    Adachi Runa, Kono Michihiro, Takeichi Takuya, Muro Yoshinao, Akiyama Masashi

    EUROPEAN JOURNAL OF DERMATOLOGY   Vol. 28 ( 4 ) page: 523-524   2018

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    DOI: 10.1684/ejd.2018.3313

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  153. Impetigo herpetiformis with IL-36RN mutation successfully treated with secukinumab

    Kinoshita Manao, Ogawa Youichi, Takeichi Takuya, Okamoto Takashi, Osada Atsushi, Shimada Shinji, Sugiura Kazumitsu, Akiyama Masashi, Kawamura Tatsuyoshi, Tsukamoto Katsuhiko

    EUROPEAN JOURNAL OF DERMATOLOGY   Vol. 28 ( 3 ) page: 381-382   2018

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    DOI: 10.1684/ejd.2018.3259

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  154. Superficial epidermolytic ichthyosis concomitant with atopic dermatitis

    Shimada Hiromitsu, Takeo Naoko, Saito-Shono Tomoko, Ishikawa Kazushi, Sakai Takashi, Goto Mizuki, Hatano Yutaka, Fujiwara Sakuhei, Matsuda Mitsuhiro, Hamada Takahiro, Nakama Takekuni, Hashimoto Takashi, Kono Michihiro, Akiyama Masashi, Kitajima Yasuo

    EUROPEAN JOURNAL OF DERMATOLOGY   Vol. 28 ( 1 ) page: 94-96   2018

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    DOI: 10.1684/ejd.2017.3158

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  155. Sunlight is merely a temporary modifier of dyschromatosis symmetrica hereditaria

    Kono Michihiro, Miyamura Yoshinori, Tomita Yasushi, Akiyama Masashi

    EUROPEAN JOURNAL OF DERMATOLOGY   Vol. 28 ( 2 ) page: 251-252   2018

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    DOI: 10.1684/ejd.2018.3227

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  156. Intramuscular haemorrhage in a patient with dermatomyositis and anti-TIF1 gamma antibodies

    Adachi Runa, Muro Yoshinao, Kono Michihiro, Akiyama Masashi

    EUROPEAN JOURNAL OF DERMATOLOGY   Vol. 28 ( 1 ) page: 116-118   2018

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    DOI: 10.1684/ejd.2017.3168

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  157. Strong correlation between cancer progression and anti-transcription intermediary factor 1 gamma antibodies in dermatomyositis patients

    Ogawa-Momohara M., Muro Y., Mitsuma T., Katayama M., Yanaba K., Nara M., Kakeda M., Kono M., Akiyama M.

    CLINICAL AND EXPERIMENTAL RHEUMATOLOGY   Vol. 36 ( 6 ) page: 990-995   2018

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  158. Autoinflammatory keratinization diseases

    Akiyama Masashi, Takeichi Takuya, McGrath John A., Sugiura Kazumitsu

    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY   Vol. 140 ( 6 ) page: 1545-1547   2017.12

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    DOI: 10.1016/j.jaci.2017.05.019

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  159. Autoinflammatory keratinization diseases Reviewed

    Akiyama M, Takeichi T, McGrath JA, Sugiura K

    J Allergy Clin Immunol   Vol. 140 ( 6 ) page: 1545-1547   2017.12

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  160. Ultrasonography, a useful tool for detecting tumour "pseudoprogression'

    Akiyama M.

    BRITISH JOURNAL OF DERMATOLOGY   Vol. 177 ( 6 ) page: 1483-1484   2017.12

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    DOI: 10.1111/bjd.15859

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  161. Clinicopathological analysis of 46 cases with CD4(+) and/or CD56(+) immature haematolymphoid malignancy: reappraisal of blastic plasmacytoid dendritic cell and related neoplasms

    Suzuki Yuka, Kato Seiichi, Kohno Kei, Satou Akira, Eladl Ahmed E., Asano Naoko, Kono Michihiro, Kato Yuichi, Taniwaki Masafumi, Akiyama Masashi, Nakamura Shigeo

    HISTOPATHOLOGY   Vol. 71 ( 6 ) page: 972-984   2017.12

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    DOI: 10.1111/his.13340

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  162. Granulocyte and monocyte apheresis can control juvenile generalized pustular psoriasis with mutation of IL36RN

    Koike Y., Okubo M., Kiyohara T., Fukuchi R., Sato Y., Kuwatsuka S., Takeichi T., Akiyama M., Sugiura K., Utani A.

    BRITISH JOURNAL OF DERMATOLOGY   Vol. 177 ( 6 ) page: 1732-1736   2017.12

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    DOI: 10.1111/bjd.15509

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  163. Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia

    Takeichi Takuya, Torrelo Antonio, Lee John Y. W., Ohno Yusuke, Luisa Lozano Maria, Kihara Akio, Liu Lu, Yasuda Yuka, Ishikawa Junko, Murase Takatoshi, Belen Rodrigo Ana, Fernandez-Crehuet Pablo, Toi Yoichiro, Mellerio Jemima, Rivera Jose, Vicente Vicente, Kelsell David P., Nishimura Yutaka, Okuno Yusuke, Kojima Daiei, Ogawa Yasushi, Sugiura Kazumitsu, Simpson Michael A., McLean W. H. Irwin, Akiyama Masashi, McGrath John A.

    JOURNAL OF INVESTIGATIVE DERMATOLOGY   Vol. 137 ( 11 ) page: 2344-2353   2017.11

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    DOI: 10.1016/j.jid.2017.06.028

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  164. Biallelic mutations in KDSR disrupt ceramide synthesis and result in a spectrum of keratinization disorders associated with thrombocytopenia Reviewed

    Takeichi T, Torrelo A, Lee JYW, Ohno Y, Lozano ML, Kihara A, Liu L, Yasuda Y, Ishikawa J, Murase T, Rodrigo AB, Fernández-Crehuet P, Toi Y, Mellerio J, Rivera J, Vicente V, Kelsell DP, Nishimura Y, Okuno Y, Kojima D, Ogawa Y, Sugiura K, Simpson MA, McLean WHI, Akiyama M, McGrath JA

    J Invest Dermatol   Vol. 137 ( 11 ) page: 2344-2353   2017.11

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  165. Eosinophilic annular erythema localized on the neck

    Hioki Tomoyuki, Takama Hiroyuki, Makita Sumiko, Shibata Akitaka, Akiyama Masashi, Watanabe Daisuke

    EUROPEAN JOURNAL OF DERMATOLOGY   Vol. 27 ( 6 ) page: 673-674   2017.11

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    DOI: 10.1684/ejd.2017.3145

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  166. Leg ulcers associated with cutaneous vascular degeneration in a patient receiving pazopanib chemotherapy.

    Hioki T, Takama H, Makita S, Chen KR, Watanabe D, Akiyama M

    European journal of dermatology : EJD   Vol. 27 ( 5 ) page: 546-547   2017.10

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    DOI: 10.1684/ejd.2017.3092

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  167. Autosomal dominant familial generalized pustular psoriasis caused by a CARD14 mutation

    Takeichi T., Kobayashi A., Ogawa E., Okuno Y., Kataoka S., Kono M., Sugiura K., Okuyama R., Akiyama M.

    BRITISH JOURNAL OF DERMATOLOGY   Vol. 177 ( 4 ) page: E133-E135   2017.10

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    DOI: 10.1111/bjd.15442

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  168. Abscopal Effect of Local Irradiation Treatment for Diffuse Large B-cell Lymphoma

    Hidaka Yuri, Takeichi Takuya, Ishikawa Yuichi, Kawamura Mariko, Akiyama Masashi

    ACTA DERMATO-VENEREOLOGICA   Vol. 97 ( 9 ) page: 1140-1141   2017.10

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    DOI: 10.2340/00015555-2729

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  169. A combination of low-dose systemic etretinate and topical calcipotriol/betamethasone dipropionate treatment for hyperkeratosis and itching in Olmsted syndrome associated with a TRPV3 mutation

    Takeichi Takuya, Tsukamoto Katsuhiko, Okuno Yusuke, Kojima Daiei, Kono Michihiro, Suga Yasushi, Akiyama Masashi

    JOURNAL OF DERMATOLOGICAL SCIENCE   Vol. 88 ( 1 ) page: 144-146   2017.10

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    DOI: 10.1016/j.jdermsci.2017.05.012

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  170. Chromosomal inversions as a hidden disease-modifying factor

    Nomura T., Suzuki S., Miyauchi T., Takeda M., Fujita Y., Nishie W., Akiyama M., Shimizu H.

    JOURNAL OF INVESTIGATIVE DERMATOLOGY   Vol. 137 ( 10 ) page: S226-S226   2017.10

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  171. Corneocyte lipid envelope (CLE), the key structure for skin barrier function and ichthyosis pathogenesis

    Akiyama Masashi

    JOURNAL OF DERMATOLOGICAL SCIENCE   Vol. 88 ( 1 ) page: 3-9   2017.10

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    DOI: 10.1016/j.jdermsci.2017.06.002

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  172. Image Gallery: Unilaterally dominant acrokeratoelastoidosis (punctate palmoplantar keratoderma type 3)

    Taki T., Ogawa Y., Sakakibara A., Kono M., Akiyama M.

    BRITISH JOURNAL OF DERMATOLOGY   Vol. 177 ( 4 ) page: E157-E157   2017.10

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    DOI: 10.1111/bjd.15817

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  173. Phosphorylated signal transducer and activator of transcription 3 in the epidermis in adult-onset Still's disease

    Takeichi Takuya, Watanabe Naoki, Muro Yoshinao, Teshigawara Shiho, Sato Motoki, Ban Nobutaro, Akiyama Masashi

    JOURNAL OF DERMATOLOGY   Vol. 44 ( 10 ) page: 1172-1175   2017.10

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    DOI: 10.1111/1346-8138.13888

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  174. A Child with Epidermolytic Ichthyosis from a Parent with Epidermolytic Nevus: Risk Evaluation of Transmission from Mosaic to Germline

    Kono Michihiro, Suga Yasushi, Akashi Tomohiro, Ito Yasutomo, Takeichi Takuya, Muro Yoshinao, Akiyama Masashi

    JOURNAL OF INVESTIGATIVE DERMATOLOGY   Vol. 137 ( 9 ) page: 2024-2026   2017.9

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    DOI: 10.1016/j.jid.2017.04.036

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  175. A child with epidermolytic ichthyosis from a parent with epidermolytic nevus: risk evaluation of transmission from mosaic to germline Reviewed

    Kono M, Suga Y, Akashi T, Ito Y, Takeichi T, Muro Y, Akiyama M

    J Invest Dermatol   Vol. 137 ( 9 ) page: 2024-2026   2017.9

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  176. Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis with a homozygous deletion mutation in SDR9C7

    Takeichi T., Nomura T., Takama H., Kono M., Sugiura K., Watanabe D., Shimizu H., Simpson M. A., McGrath J. A., Akiyama M.

    BRITISH JOURNAL OF DERMATOLOGY   Vol. 177 ( 3 ) page: E62-E64   2017.9

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    DOI: 10.1111/bjd.15315

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  177. Leg ulcers associated with cutaneous vascular degeneration in a patient receiving pazopanib chemotherapy

    Hioki Tomoyuki, Takama Hiroyuki, Makita Sumiko, Chen Ko-Ron, Watanabe Daisuke, Akiyama Masashi

    EUROPEAN JOURNAL OF DERMATOLOGY   Vol. 27 ( 5 ) page: 546-547   2017.9

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  178. Prevalence of anti-NT5C1A antibodies in Japanese patients with autoimmune rheumatic diseases in comparison with other patient cohorts

    Muro Yoshinao, Nakanishi Hirotaka, Katsuno Masahisa, Kono Michihiro, Akiyama Masashi

    CLINICA CHIMICA ACTA   Vol. 472   page: 1-4   2017.9

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    DOI: 10.1016/j.cca.2017.07.002

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  179. Pigmented macules in Waardenburg syndrome type 2 due to KITLG mutation

    Ogawa Yasushi, Kono Michihiro, Akiyama Masashi

    PIGMENT CELL & MELANOMA RESEARCH   Vol. 30 ( 5 ) page: 501-504   2017.9

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    DOI: 10.1111/pcmr.12597

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  180. Autoantibodies to Su/Argonaute 2 in Japanese patients with inflammatory myopathy

    Ogawa-Momohara Mariko, Muro Yoshinao, Satoh Minoru, Akiyama Masashi

    CLINICA CHIMICA ACTA   Vol. 471   page: 304-307   2017.8

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    DOI: 10.1016/j.cca.2017.06.022

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  181. Corneocyte lipid envelope (CLE), the key structure for skin barrier function and ichthyosis pathogenesis Reviewed

    Akiyama M

    J Dermatol Sci   Vol. 88 ( 1 ) page: 3-9   2017.7

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  182. Infantile bullous pemphigoid successfully treated with intravenous immunoglobulin therapy

    Watanabe T., Hara S., Muto J., Watanabe D., Akiyama M.

    CLINICAL AND EXPERIMENTAL DERMATOLOGY   Vol. 42 ( 5 ) page: 576-578   2017.7

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    DOI: 10.1111/ced.13104

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  183. Mutational analysis of 29 patients with autosomal-recessive woolly hair and hypotrichosis: LIPH mutations are extremely predominant in autosomal-recessive woolly hair and hypotrichosis in Japan

    Takeichi T., Tanahashi K., Taki T., Kono M., Sugiura K., Akiyama M.

    BRITISH JOURNAL OF DERMATOLOGY   Vol. 177 ( 1 ) page: 290-292   2017.7

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    DOI: 10.1111/bjd.15070

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  184. Certolizumab pegol, a pegylated anti-TNF- antagonist, caused de novo-onset palmoplantar pustulosis followed by generalized pustular psoriasis in a patient with rheumatoid arthritis

    Koizumi Haruka, Tokuriki Atsushi, Oyama Noritaka, Ido Hideki, Sugiura Kazumitsu, Akiyama Masashi, Hasegawa Minoru

    JOURNAL OF DERMATOLOGY   Vol. 44 ( 6 ) page: 723-724   2017.6

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    DOI: 10.1111/1346-8138.13530

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  185. Infant bald patch: ultrasonographic diagnosis of aplasia cutis congenita

    Hioki T., Takama H., Makita S., Akiyama M.

    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY   Vol. 31 ( 6 ) page: E276-E277   2017.6

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    DOI: 10.1111/jdv.14018

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  186. Anti-dense Fine Speckled 70 Autoantibodies in Japanese Children with Dermatomyositis, Localized Scleroderma, and Idiopathic Arthritis with Iridocyclitis

    Muro Yoshinao, Iwata Naomi, Tanaka Yoshihito, Kodera Masanari, Kono Michihiro, Akiyama Masashi

    JOURNAL OF RHEUMATOLOGY   Vol. 44 ( 5 ) page: 711-712   2017.5

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    DOI: 10.3899/jrheum.161409

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  187. Image Gallery: Palmoplantar hyperkeratosis in dermatomyositis with anti-PM/Scl antibodies

    Taki T., Muro Y., Ogawa Y., Akiyama M.

    BRITISH JOURNAL OF DERMATOLOGY   Vol. 176 ( 5 ) page: E94-E94   2017.5

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    DOI: 10.1111/bjd.15371

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  188. Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation

    Taki T., Takeichi T., Sugiura K., Akiyama M.

    JOURNAL OF INVESTIGATIVE DERMATOLOGY   Vol. 137 ( 5 ) page: S151-S151   2017.5

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  189. Congenital Ichthyosis and Recurrent Eczema Associated with a Novel ALOXE3 Mutation

    Takeichi Takuya, Okuno Yusuke, Saito Chiyo, Kojima Daiei, Kono Michihiro, Morita Akimichi, Sugiura Kazumitsu, Akiyama Masashi

    ACTA DERMATO-VENEREOLOGICA   Vol. 97 ( 4 ) page: 532-533   2017.4

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    DOI: 10.2340/00015555-2549

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  190. Morphological analyses in fragility of pili torti with Bjornstad syndrome

    Marubashi Yuki, Yanagishita Takeshi, Muto Jun, Taguchi Nobuhiko, Sugiura Kazumitsu, Kawamoto Yoshiyuki, Akiyama Masashi, Watanabe Daisuke

    JOURNAL OF DERMATOLOGY   Vol. 44 ( 4 ) page: 455-458   2017.4

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    DOI: 10.1111/1346-8138.13700

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  191. PNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis. Reviewed

    Hirabayashi T, Anjo T, Kaneko A, Senoo Y, Shibata A, Takama H, Yokoyama K, Nishito Y, Ono T, Taya C, Muramatsu K, Fukami K, Muñoz-Garcia A, Brash A, Ikeda K, Arita M, Akiyama M, Murakami M.

    Nat Commun   Vol. 8   page: 14609   2017.3

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    DOI: 10.1038/ncomms14609

  192. Near-infrared image-guided super-selective intra-arterial infusion of high-dose cisplatin for squamous cell carcinoma on the lower lip

    Yokota Kenji, Matsumoto Takaaki, Murakami Yoshie, Akiyama Masashi

    EUROPEAN JOURNAL OF DERMATOLOGY   Vol. 27 ( 2 ) page: 208-209   2017.3

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    DOI: 10.1684/ejd.2016.2957

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  193. Successful treatment of a cutaneous ulcer due to cholesterol crystal embolization with topical basic fibroblast growth factor

    Takeichi Takuya, Akiyama Masashi

    EUROPEAN JOURNAL OF DERMATOLOGY   Vol. 27 ( 2 ) page: 182-183   2017.3

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    DOI: 10.1684/ejd.2016.2920

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  194. Striate Palmoplantar Keratoderma Showing Transgrediens in a Patient Harbouring Heterozygous Nonsense Mutations in Both DSG1 and SERPINB7

    Fukaura Ryo, Takeichi Takuya, Okuno Yusuke, Kojima Daiei, Kono Michihiro, Sugiura Kazumitsu, Suga Yasushi, Akiyama Masashi

    ACTA DERMATO-VENEREOLOGICA   Vol. 97 ( 3 ) page: 399-401   2017.3

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    DOI: 10.2340/00015555-2553

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  195. Punctate palmoplantar keratoderma type 1 with a novel AAGAB frameshift mutation: intrafamilial phenotype variation due to ageing

    Kono M., Fukai K., Shimizu N., Nagao J., Takeichi T., Tsuruta D., Sugiura K., Akiyama M.

    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY   Vol. 31 ( 3 ) page: E175-E176   2017.3

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    DOI: 10.1111/jdv.13906

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  196. Pectoral nerve blocks are useful for axillary sentinel lymph node biopsy in malignant tumors on the upper extremities

    Yokota Kenji, Matsumoto Takaaki, Murakami Yoshie, Akiyama Masashi

    INTERNATIONAL JOURNAL OF DERMATOLOGY   Vol. 56 ( 3 ) page: E64-E65   2017.3

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    DOI: 10.1111/ijd.13520

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  197. Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.

    Lee JYW, Hsu CK, Michael M, Nanda A, Liu L, McMillan JR, Pourreyron C, Takeichi T, Tolar J, Reid E, Hayday T, Blumen SC, Abu-Mouch S, Straussberg R, Basel-Vanagaite L, Barhum Y, Zouabi Y, Al-Ajmi H, Huang HY, Lin TC, Akiyama M, Lee JYY, McLean WHI, Simpson MA, Parsons M, McGrath JA

    American journal of human genetics   Vol. 100 ( 2 ) page: 364-370   2017.2

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    DOI: 10.1016/j.ajhg.2017.01.014

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  198. Toll-like receptor 4 antagonist TAK-242 inhibits autoinflammatory symptoms in DITRA Reviewed

    Shibata A, Sugiura K, Furuta Y, Mukumoto Y, Kaminuma O, Akiyama M

    J Autoimmun     2017.2

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    DOI: 10.1016/j.jaut.2017.01.007

  199. Large intragenic deletion in DSTYK underlies autosomal recessive complicated spastic paraparesis (SPG23) Reviewed

    Lee JYW, Hsu C-K, Michael M, Nanda A, Liu L, McMillan JR, Pourreyron C, Takeichi T, Tolar J, Reid E, Hayday T, Blumen SC, Abu-Mouch S, Straussberg R, Basel-Vanagaite L, Barhum Y, Zouabi Y, Al-Ajmi H, Huang H-Y, Lin T-C, Akiyama M, Lee JYY, McLean WHI, Simpson MA, Parsons M, McGrath JA

    Am J Hum Genet   Vol. 100 ( 2 ) page: 364-370   2017.2

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  200. A case of epidermolytic ichthyosis showing a very mild phenotype due to a novel tail extension mutation in KRT10

    Kono M., Fukai K., Omura R., Sugawara K., Tsuruta D., Sugiura K., Akiyama M.

    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY   Vol. 31 ( 2 ) page: E68-E69   2017.2

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    DOI: 10.1111/jdv.13729

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  201. Compound heterozygosity for novel splice site mutations of ITGA6 in lethal junctional epidermolysis bullosa with pyloric atresia

    Masunaga Takuji, Ogawa Junki, Akiyama Masashi, Nishikawa Takeji, Shimizu Hiroshi, Ishiko Akira

    JOURNAL OF DERMATOLOGY   Vol. 44 ( 2 ) page: 160-166   2017.2

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    DOI: 10.1111/1346-8138.13575

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  202. Epstein-Barr Virus-associated Natural Killer/T-cell Lymphoma in a Patient Receiving Therapy with Anti-Tumour Necrosis Factor and Thiopurine

    Murase Chiaki, Ogawa Yasushi, Yamamoto Azusa, Iriyama Chisako, Akiyama Masashi

    ACTA DERMATO-VENEREOLOGICA   Vol. 97 ( 2 ) page: 273-274   2017.2

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    DOI: 10.2340/00015555-2529

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  203. Recurrent Cellulitis Caused by Helicobacter cinaedi in a Patient with X-linked Agammaglobulinaemia

    Sugimoto Masayo, Takeichi Takuya, Muramatsu Hideki, Kojima Daiei, Osada Yukari, Kono Michihiro, Kojima Seiji, Akiyama Masashi

    ACTA DERMATO-VENEREOLOGICA   Vol. 97 ( 2 ) page: 277-278   2017.2

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    DOI: 10.2340/00015555-2501

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  204. Syndromic inherited poikiloderma due to a de novo mutation in FAM111B

    Takeichi T., Nanda A., Yang H. -S., Hsu C. -K., Lee J. Y. -Y., Al-Ajmi H., Akiyama M., Simpson M. A., McGrath J. A.

    BRITISH JOURNAL OF DERMATOLOGY   Vol. 176 ( 2 ) page: 534-536   2017.2

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    DOI: 10.1111/bjd.14845

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  205. Ripple-pattern lichen amyloidosis in a case of ichthyosis vulgaris with a novel FLG mutation

    Kono M., Nishida K., Takeichi T., Sugiura K., Akiyama M.

    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY   Vol. 31 ( 2 ) page: E130-E132   2017.2

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    DOI: 10.1111/jdv.13877

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  206. Anticentromere antibody-positive primary Sjogren's syndrome: Epitope analysis of a subset of anticentromere antibody-positive patients

    Tanaka Noriyo, Muro Yoshinao, Suzuki Yasunori, Nishiyama Susumu, Takada Kunio, Sekiguchi Masahiro, Hashimoto Naoaki, Ohmura Koichiro, Shimoyama Kumiko, Saito Ichiro, Kawano Mitsuhiro, Akiyama Masashi

    MODERN RHEUMATOLOGY   Vol. 27 ( 1 ) page: 115-121   2017.1

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    DOI: 10.1080/14397595.2016.1176327

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  207. Angiofibroma of Soft Tissue on the Cheek: Diagnosis Confirmed by Gene Rearrangement in NCOA2

    Jeong Jin-Wook, Kono Michihiro, Hasegawa-Murakami Yoshie, Motoi Toru, Yokota Kenji, Matsumoto Takaaki, Kaibuchi-Ando Kaori, Kato Yoichi, Tada Toyohiro, Akiyama Masashi

    ACTA DERMATO-VENEREOLOGICA   Vol. 97 ( 1 ) page: 133-134   2017.1

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    DOI: 10.2340/00015555-2461

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  208. A newly revealed IL36RN mutation in sibling cases complements our IL36RN mutation statistics for generalized pustular psoriasis

    Takeichi Takuya, Togawa Yaei, Okuno Yusuke, Taniguchi Rieko, Kono Michihiro, Matsue Hiroyuki, Sugiura Kazumitsu, Akiyama Masashi

    JOURNAL OF DERMATOLOGICAL SCIENCE   Vol. 85 ( 1 ) page: 58-60   2017.1

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    DOI: 10.1016/j.jdermsci.2016.10.009

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  209. Pityriasis rubra pilaris type V as an autoinflammatory disease by CARD14 mutations. Reviewed

    Takeichi T, Sugiura K, Nomura T, Sakamoto T, Ogawa Y, Oiso N, Futei Y, Fujisaki A, Koizumi A, Aoyama Y, Nakajima K, Hatano Y, Hayashi K, Ishida-Yamamoto A, Fujiwara, S, Sano S, Iwatsuki K, Kawada A, Suga Y, Shimizu H, McGrath JA, Akiyama M

    JAMA Dermatol   Vol. 153 ( 1 ) page: 66-70   2017.1

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  210. Compound heterozygotes for filaggrin gene mutations do not always show severe atopic dermatitis

    Sekiya A., Kono M., Tsujiuchi H., Kobayashi T., Nomura T., Kitakawa M., Suzuki N., Yamanaka K., Sueki H., McLean W. H. I., Shimizu H., Akiyama M.

    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY   Vol. 31 ( 1 ) page: 158-162   2017.1

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    DOI: 10.1111/jdv.13871

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  211. Pityriasis Rubra Pilaris Type V as an Autoinflammatory Disease by CARD14 Mutations

    Takeichi Takuya, Sugiura Kazumitsu, Nomura Toshifumi, Sakamoto Taiko, Ogawa Yasushi, Oiso Naoki, Futei Yuko, Fujisaki Aki, Koizumi Akiko, Aoyama Yumi, Nakajima Kimiko, Hatano Yutaka, Hayashi Kei, Ishida-Yamamoto Akemi, Fujiwara Sakuhei, Sano Shigetoshi, Iwatsuki Keiji, Kawada Akira, Suga Yasushi, Shimizu Hiroshi, McGrath John A., Akiyama Masashi

    JAMA DERMATOLOGY   Vol. 153 ( 1 ) page: 66-70   2017.1

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    DOI: 10.1001/jamadermatol.2016.3601

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  212. Rapid increase of serum anti-MDA-5 antibodies and exacerbation of clinically amyopathic dermatomyositis/interstitial lung disease

    Murase C., Muro Y., Akiyama M.

    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY   Vol. 31 ( 1 ) page: E43-E44   2017.1

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    DOI: 10.1111/jdv.13670

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  213. A solid variant of primary cutaneous cribriform carcinoma: a small, stable, long-term lesion

    Yokota Kenji, Kono Michihiro, Mori Shoichiro, Shimizu Kazue, Matsumoto Takaaki, Akiyama Masashi

    EUROPEAN JOURNAL OF DERMATOLOGY   Vol. 27 ( 4 ) page: 419-421   2017

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    DOI: 10.1684/ejd.2017.3034

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  214. A case of lamellar ichthyosis due to a novel TGM1 mutation associated with Parkinson's disease

    Morita-Adachi Runa, Takeichi Takuya, Okuno Yusuke, Kataoka Shinsuke, Hoshino Shimpei, Akiyama Masashi

    EUROPEAN JOURNAL OF DERMATOLOGY   Vol. 27 ( 4 ) page: 438-439   2017

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    DOI: 10.1684/ejd.2017.3049

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  215. Ultrasound-guided peripheral nerve blocks are useful for resections of malignant skin tumours on the leg

    Yokota Kenji, Matsumoto Takaaki, Murakami Yoshie, Ando Kaori, Akiyama Masashi

    EUROPEAN JOURNAL OF DERMATOLOGY   Vol. 27 ( 1 ) page: 70-72   2017

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    DOI: 10.1684/ejd.2016.2897

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  216. Large intragenic KRT1 deletion underlying atypical autosomal dominant keratinopathic ichthyosis Reviewed

    Takeichi T, Liu L, Abdul-Wahab A, McMillan JR, Stone KL, Akiyama M, Simpson MA, Parsons M, Mellerio JE, McGrath JA

    J Invest Dermatol   Vol. 136 ( 10 ) page: 2095-2098   2016.10

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  217. Revertant mosaicism in ichthyosis with confetti caused by a novel frameshift mutation in KRT1 Reviewed

    Suzuki S, Nomura T, Miyauch T, Takeda M, Nakamura H, Shinkuma S, Fujita Y, Akiyama M, Shimizu H

    J Invest Dermatol   Vol. 136 ( 10 ) page: 2093-2095   2016.10

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  218. Germline NLRP1 mutations cause skin inflammatory and cancer susceptibility syndromes via inflammasome activation Reviewed

      Vol. 167 ( 1 ) page: 187-202   2016.9

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  219. Intratumoral expression levels of PD-L1, GZMA, and HLA-A along with oligoclonal T cell expansion associate with response to nivolumab in metastatic melanoma Reviewed

    Inoue H, Park J-H, Kiyotani K, Zewde M, Miyashita A, Jinnin M, Kiniwa Y, Okuyama R, Tanaka R, Fujisawa Y, Kato H, Morita A, Asai J, Katoh N, Yokota K, Akiyama M, Ihn H, Fukushima S, Nakamura Y

    OncoImmunology   Vol. 5 ( 9 ) page: e1204507   2016.6

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  220. Dyschromatosis symmetrica hereditaria and Aicardi-Goutières syndrome 6 are phenotypic variants caused by ADAR1 mutations Reviewed

    Kono M, Matsumoto F, Suzuki Y, Suganuma M, Saitsu H, Ito Y, Fujiwara S, Moriwaki S, Matsumoto K, Matsumoto N, Tomita Y, Sugiura K, Akiyama M

    J Invest Dermatol   Vol. 136 ( 4 ) page: 875-878   2016.4

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  221. Buruli ulcer successfully treated with negative-pressure wound therapy Reviewed

    Murase C, Kono M, Nakanaga K, Ishii N, Akiyama M

    JAMA Dermatol   Vol. 151 ( 10 ) page: 1137-1139   2015.10

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  222. High incidence of cancer in anti-small ubiquitin-like modifier activating enzyme antibody-positive dermatomyositis. Reviewed

    Muro Y, Sugiura K, Nara M, Sakamoto I, Suzuki N, Akiyama M

    Rheumatology (Oxford, England)   Vol. 54 ( 9 ) page: 1745-7   2015.9

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    DOI: 10.1093/rheumatology/kev247

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  223. Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan. Reviewed

    Shibata A, Akiyama M

    Pediatrics international : official journal of the Japan Pediatric Society   Vol. 57 ( 4 ) page: 516-22   2015.8

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    DOI: 10.1111/ped.12638

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  224. Porokeratotic eccrine ostial and dermal duct nevus with a somatic homozygous or monoallelic variant of connexin 26. Reviewed

    Noda K, Sugiura K, Kono M, Akiyama M

    Journal of dermatological science     2015.7

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    DOI: 10.1016/j.jdermsci.2015.07.003

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  225. Novel indel mutation of STS underlies a new phenotype of self-healing recessive X-linked ichthyosis. Reviewed

    Takeichi T, Sugiura K, Hsu CK, Tanahashi K, Takama H, Simpson MA, McGrath JA, Akiyama M

    Journal of dermatological science     2015.7

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    DOI: 10.1016/j.jdermsci.2015.07.001

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  226. Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis. Reviewed

    Sugiura K, Akiyama M

    Journal of dermatological science   Vol. 79 ( 1 ) page: 4-9   2015.7

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    DOI: 10.1016/j.jdermsci.2015.04.009

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  227. The novel GJB3 mutation p.Thr202Asn in the M4 transmembrane domain underlies erythrokeratodermia variabilis Reviewed

    Sugiura K, Arima M, Matsunaga K, Akiyama M

    Br J Dermatol   Vol. 173 ( 1 ) page: 309-311   2015.7

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    DOI: 10.1111/bjd.13641

  228. Annular Elastolytic Giant Cell Granuloma Successfully Treated with Minocycline Hydrochloride. Reviewed

    Nanbu A, Sugiura K, Kono M, Muro Y, Akiyama M

    Acta dermato-venereologica   Vol. 95 ( 6 ) page: 756-7   2015.6

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    DOI: 10.2340/00015555-2056

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  229. Essential role of the cytochrome P450 CYP4F22 in the production of acylceramide, the key lipid for skin permeability barrier formation. Reviewed

    Ohno Y, Nakamichi S, Ohkuni A, Kamiyama N, Naoe A, Tsujimura H, Yokose U, Sugiura K, Ishikawa J, Akiyama M, Kihara A

    Proc Natl Acad Sci USA   Vol. 112 ( 25 ) page: 7707-7712   2015.6

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  230. Cutaneous Manifestations in Dermatomyositis: Key Clinical and Serological Features-a Comprehensive Review. Reviewed

    Muro Y, Sugiura K, Akiyama M

    Clinical reviews in allergy & immunology     2015.6

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    DOI: 10.1007/s12016-015-8496-5

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  231. Impetigo herpetiformis with IL36RN mutations in a Chinese patient: A founder haplotype of c.115+6T&gt;C in East Asia. Reviewed

    Sugiura K, Nakasuka A, Kono H, Kono M, Akiyama M

    Journal of dermatological science     2015.6

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    DOI: 10.1016/j.jdermsci.2015.06.003

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  232. Annular pustular psoriasis with a heterozygous IL36RN mutation. Reviewed

    Miyake T, Umemura H, Doi H, Kousogabe J, Tsuji K, Hamada T, Sugiura K, Aoyama Y, Akiyama M, Iwatsuki K

    European journal of dermatology : EJD     2015.6

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    DOI: 10.1684/ejd.2015.2569

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  233. Lymphatic flow is mostly preserved after sentinel lymph node biopsy in primary cutaneous malignant melanoma Reviewed

    Yokota K, Sawada M, Matsumoto T, Hasegawa Y, Kono M, Akiyama M

    J Dermatol Sci   Vol. 78 ( 2 ) page: 101-107   2015.5

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    DOI: 10.1016/j.jdermsci.2015.02.011

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  234. Elderly-Onset Generalized Pustular Psoriasis without a Previous History of Psoriasis Vulgaris. Reviewed

    Aizu T, Matsui A, Takiyoshi N, Akasaka E, Kaneko T, Nakano H, Sugiura K, Akiyama M, Sawamura D

    Case reports in dermatology   Vol. 7 ( 2 ) page: 187-93   2015.5

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    DOI: 10.1159/000438505

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  235. TRPS1 Haploinsufficiency Results in Increased STAT3 and SOX9 mRNA Expression in Hair Follicles in Trichorhinophalangeal Syndrome. Reviewed

    Shibata A, Tanahashi K, Sugiura K, Akiyama M

    Acta dermato-venereologica   Vol. 95 ( 5 ) page: 620-1   2015.5

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    DOI: 10.2340/00015555-1948

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  236. What are the "True" Pathogenic Anti-desmoglein Antibodies? Reviewed

    Muro Y, Sugiura K, Akiyama M

    Acta dermato-venereologica     2015.4

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    DOI: 10.2340/00015555-2119

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  237. Familial Primary Localized Cutaneous Amyloidosis Results from Either Dominant or Recessive Mutations in OSMR. Reviewed

    Wali A, Liu L, Takeichi T, Jelani M, Rahman OU, Heng YK, Thng S, Lee J, Akiyama M, McGrath JA, Betz RC

    Acta dermato-venereologica     2015.3

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    DOI: 10.2340/00015555-2104

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  238. Anti-PM/Scl antibodies are found in Japanese patients with various systemic autoimmune conditions besides myositis and scleroderma. Reviewed

    Muro Y, Hosono Y, Sugiura K, Ogawa Y, Mimori T, Akiyama M

    Arthritis research & therapy   Vol. 17   page: 57   2015.3

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1186/s13075-015-0573-x

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  239. DNA mismatch repair enzymes: genetic defects and autoimmunity. Reviewed

    Muro Y, Sugiura K, Mimori T, Akiyama M

    Clinica chimica acta; international journal of clinical chemistry   Vol. 442   page: 102-9   2015.3

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    DOI: 10.1016/j.cca.2015.01.014

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  240. Acute generalized exanthematous pustulosis caused by dihydrocodeine phosphate in a patient with psoriasis vulgaris and a heterozygous IL36RN mutation. Reviewed

    Nakai N, Sugiura K, Akiyama M, Katoh N

    JAMA dermatology   Vol. 151 ( 3 ) page: 311-5   2015.3

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    DOI: 10.1001/jamadermatol.2014.3002

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  241. Darier's disease: a novel ATP2A2 missense mutation at one of the calcium-binding residues. Reviewed

    Kaibuchi-Noda K, Sugiura K, Takeichi T, Miura S, Kagami S, Takama H, Hino H, Akiyama M

    Acta dermato-venereologica   Vol. 95 ( 3 ) page: 362-3   2015.3

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    DOI: 10.2340/00015555-1927

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  242. Large epidermal cleft formation in verrucous-keratotic malignant melanoma of the heel. Reviewed

    Matsumoto T, Yokota K, Sawada M, Hasegawa Y, Takeuchi A, Kono M, Akiyama M

    Journal of the American Academy of Dermatology   Vol. 72 ( 1 ) page: e37-8   2015.1

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    DOI: 10.1016/j.jaad.2014.09.044

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  243. Childhood-onset PsA in Down syndrome with psoriasis susceptibility variant CARD14 rs11652075. Reviewed

    Sugiura K, Kitoh T, Watanabe D, Muto M, Akiyama M

    Rheumatology (Oxford, England)   Vol. 54 ( 1 ) page: 197-9   2015.1

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    DOI: 10.1093/rheumatology/keu419

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  244. Autoantibodies to DNA mismatch repair enzymes in polymyositis/dermatomyositis and other autoimmune conditions: a possible marker of favorable prognosis Reviewed

    Muro Y, Nakashima R, Hosono Y, Sugiura K, Mimori T, Akiyama M

    Arthritis Rheumatol   Vol. 66 ( 12 ) page: 3457-3462   2014.12

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  245. Lamellar Ichthyosis Caused by a Previously Unreported Homozygous ALOXE3 Mutation in East Asia. Reviewed

    Sugiura K, Akiyama M

    Acta dermato-venereologica     2014.11

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    DOI: 10.2340/00015555-2022

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  246. Varicella zoster virus-associated generalized pustular psoriasis in a baby with heterozygous IL36RN mutation. Reviewed

    Sugiura K, Uchiyama R, Okuyama R, Akiyama M

    Journal of the American Academy of Dermatology   Vol. 71 ( 5 ) page: e216-8   2014.11

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    DOI: 10.1016/j.jaad.2014.07.015

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  247. Is the measurement of anti-PM-1α antibodies at least as important as that of other systemic sclerosis-specific antibodies? Comment on the article by D'Aoust et al. Reviewed

      Vol. 66 ( 11 ) page: 3248   2014.11

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    DOI: 10.1002/art.38803

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  248. Urticaria pigmentosa complicated with esophageal eosinophilia. Reviewed

    Nin-Asai R, Kono M, Akiyama M

    Journal of the American Academy of Dermatology   Vol. 71 ( 5 ) page: e207-8   2014.11

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    DOI: 10.1016/j.jaad.2014.05.037

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  249. A palindromic motif in the -2084 to -2078 upstream region is essential for ABCA12 promoter function in cultured human keratinocytes Reviewed

    Shimizu Y, Ogawa Y, Sugiura K, Takeda J, Sakai-Sawada K, Yanagi T, Kon A, Sawamura D, Shimizu H, Akiyama M

    Sci Rep   Vol. 4   page: 6737   2014.10

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    DOI: 10.1038/srep06737

  250. Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR. Reviewed

    Campbell P, Morton PE, Takeichi T, Salam A, Roberts N, Proudfoot LE, Mellerio JE, Aminu K, Wellington C, Patil SN, Akiyama M, Liu L, McMillan JR, Aristodemou S, Ishida-Yamamoto A, Abdul-Wahab A, Petrof G, Fong K, Harnchoowong S, Stone KL, Harper JI, McLean WH, Simpson MA, Parsons M, McGrath JA

    The Journal of investigative dermatology   Vol. 134 ( 10 ) page: 2570-8   2014.10

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    DOI: 10.1038/jid.2014.164

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  251. IL36RN mutations underlie impetigo herpetiformis Reviewed

    Sugiura K, Oiso N, Iinuma S, Matsuda H, Minami-Hori M, Ishida-Yamamoto A, Kawada A, Iizuka H, Akiyama M

    J Invest Dermatol   Vol. 134 ( 9 ) page: 2472-2474   2014.9

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  252. Successful topical adapalene treatment for the facial lesions of an adolescent case of epidermolytic ichthyosis. Reviewed

    Ogawa M, Akiyama M

    Journal of the American Academy of Dermatology   Vol. 71 ( 3 ) page: e103-5   2014.9

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    DOI: 10.1016/j.jaad.2014.04.010

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  253. Novel TGM1 missense mutation p.Arg727Gln in a case of self-healing collodion baby. Reviewed

    Tanahashi K, Sugiura K, Asagoe K, Aoyama Y, Iwatsuki K, Akiyama M

    Acta dermato-venereologica   Vol. 94 ( 5 ) page: 589-90   2014.9

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    DOI: 10.2340/00015555-1765

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  254. Solitary organizing pneumonia mimicking lung adenocarcinoma in systemic sclerosis. Reviewed

    Sugiura K, Muro Y, Akiyama M

    Arthritis & rheumatology (Hoboken, N.J.)   Vol. 66 ( 9 ) page: 2648   2014.9

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    DOI: 10.1002/art.38670

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  255. Dorfman-Chanarin syndrome without mental retardation caused by a homozygous ABHD5 splice site mutation that skips exon 6. Reviewed

    Sugiura K, Suga Y, Akiyama M

    Journal of dermatological science   Vol. 75 ( 3 ) page: 199-201   2014.9

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    DOI: 10.1016/j.jdermsci.2014.05.009

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  256. Hydroxyurea-induced amyopathic dermatomyositis presenting with heliotrope erythema. Reviewed

    Ito E, Muro Y, Shibata A, Sugiura K, Akiyama M

    Dermatology online journal   Vol. 20 ( 8 ) page: .   2014.8

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  257. Primary mucinous carcinoma of the skin on the breast with lymph node metastasis. Reviewed

    Mizutani K, Taira M, Akiyama M

    The Journal of dermatology   Vol. 41 ( 8 ) page: 760-1   2014.8

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    DOI: 10.1111/1346-8138.12556

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  258. A new filaggrin gene mutation in a Korean patient with ichthyosis vulgaris. Reviewed

    Ohguchi Y, Nomura T, Suzuki S, Mizuno O, Nomura Y, Nemoto-Hasebe I, Okamoto H, Sandilands A, Akiyama M, Mclean WH, Shimizu H

    European journal of dermatology : EJD   Vol. 24 ( 4 ) page: 491-3   2014.7

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    DOI: 10.1684/ejd.2014.2410

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  259. Symmetrical giant facial plaque-type juvenile xanthogranuloma persisting beyond 10 years of age. Reviewed

    Sugiura K, Hasegawa Y, Shimoyama Y, Hashizume H, Akiyama M

    Acta dermato-venereologica   Vol. 94 ( 4 ) page: 465-6   2014.7

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    DOI: 10.2340/00015555-1712

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  260. Annular erythema associated with Sjögren's syndrome preceding overlap syndrome of rheumatoid arthritis and polymyositis with anti-PL-12 autoantibodies. Reviewed

      Vol. 94 ( 4 ) page: 470-1   2014.7

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    DOI: 10.2340/00015555-1744

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  261. Author's reply to "detection of anti-periplakin autoantibodies during idiopathic pulmonary fibrosis" by Taillé et al. Reviewed

      Vol. 433   page: 194   2014.6

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    DOI: 10.1016/j.cca.2014.03.026

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  262. CARD14 c.526G>C (p.Asp176His) is a significant risk factor for generalized pustular psoriasis with psoriasis vulgaris in the Japanese cohort. Reviewed

    Sugiura K, Muto M, Akiyama M

    J Invest Dermatol   Vol. 134 ( 6 ) page: 1755-1757   2014.6

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  263. Revertant mutation releases confined lethal mutation, opening Pandora's box: a novel genetic pathogenesis. Reviewed

    Ogawa Y, Takeichi T, Kono M, Hamajima N, Yamamoto T, Sugiura K, Akiyama M.

    PLoS Genet   Vol. 10 ( 5 ) page: e1004276   2014.5

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    DOI: 10.1371/journal.pgen.1004276

  264. Spindle cell carcinoma of the breast in a patient with neurofibromatosis type 1. Reviewed

    Nogimori M, Yokota K, Sawada M, Matsumoto T, Kono M, Akiyama M

    European journal of dermatology : EJD   Vol. 24 ( 3 ) page: 397-8   2014.5

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    DOI: 10.1684/ejd.2014.2329

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  265. Proposed classification of longitudinal melanonychia based on clinical and dermoscopic criteria. Reviewed

    Sawada M, Yokota K, Matsumoto T, Shibata S, Yasue S, Sakakibara A, Kono M, Akiyama M

    International journal of dermatology   Vol. 53 ( 5 ) page: 581-5   2014.5

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  266. Comprehensive screening for a complete set of Japanese-population-specific filaggrin gene mutations Reviewed

    Kono M, Nomura T, Oguchi Y, Mizuno O, Suzuki S, Tsujiuchi H, Hamajima N, McLean WHI, Shimizu H, Akiyama M

    Allergy   Vol. 69 ( 4 ) page: 537-540   2014.4

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  267. Mutations in the Grainyhead-like 2 transcription factor result in an autosomal recessive ectodermal dysplasia syndrome Reviewed

    Petrof G, Nanda A, Howden J, Takeichi T, McMillan JR, Aristodemou S, Ozoemena L, Liu L, South AP, Pourreyron C, Dafou D, Proudfoot LE, Al-Ajmi H, Akiyama M, McLean WHI, Simpson MA, Parsons M, McGrath JA

    Am J Hum Genet   Vol. 95 ( 3 ) page: 308-314   2014.3

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  268. Novel ADAR1 mutations including a single amino acid deletion in the deaminase domain underlie dyschromatosis symmetrica hereditaria in Japanese families. Reviewed

    Kono M, Suganuma M, Akiyama M, Ito Y, Ujiie H, Morimoto K

    International journal of dermatology   Vol. 53 ( 3 ) page: e194-6   2014.3

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    DOI: 10.1111/j.1365-4632.2012.05765.x

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  269. Detection of autoantibodies to periplakin and envoplakin in paraneoplastic pemphigus but not idiopathic pulmonary fibrosis using full-length recombinant proteins. Reviewed

    Muro Y, Sugiura K, Shiraki A, Ishii N, Hashimoto T, Akiyama M

    Clinica chimica acta; international journal of clinical chemistry   Vol. 429   page: 14-7   2014.2

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    DOI: 10.1016/j.cca.2013.11.020

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  270. Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair/hypotrichosis in Japan and the genotype/phenotype correlations. Reviewed

    Tanahashi K, Sugiura K, Kono M, Takama H, Hamajima N, Akiyama M

    PLoS ONE   Vol. 9 ( 2 ) page: e89261   2014.2

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  271. High survival rate of harlequin ichthyosis in Japan. Reviewed

    Shibata A, Ogawa Y, Sugiura K, Muro Y, Abe R, Suzuki T, Akiyama M

    Journal of the American Academy of Dermatology   Vol. 70 ( 2 ) page: 387-8   2014.2

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    DOI: 10.1016/j.jaad.2013.10.055

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  272. Generalized pustular psoriasis triggered by amoxicillin in monozygotic twins with compound heterozygous IL36RN mutations: comment on the article by Navarini et al. Reviewed

    Sugiura K, Shoda Y, Akiyama M

    The Journal of investigative dermatology   Vol. 134 ( 2 ) page: 578-9   2014.2

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    DOI: 10.1038/jid.2013.354

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  273. Therapy-related myelodysplastic syndrome after alkylating agents and platinum-based therapy for malignant melanoma. Reviewed

    Nin-Asai R, Sawada M, Matsumoto T, Saito S, Yokota K, Akiyama M

    The Journal of dermatology   Vol. 41 ( 2 ) page: 178-9   2014.2

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    DOI: 10.1111/1346-8138.12366

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  274. Nuclear envelope localization of Ran-binding protein 2 and Ran-GTPase-activating protein 1 in psoriatic epidermal keratinocytes. Reviewed

    Yasuda K, Sugiura K, Takeichi T, Ogawa Y, Muro Y, Akiyama M

    Experimental dermatology   Vol. 23 ( 2 ) page: 119-24   2014.2

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    DOI: 10.1111/exd.12324

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  275. Spindle cell angiosarcoma almost exclusively made up of spindle cells. Reviewed

    Makita S, Kono M, Yamada M, Suzuki N, Karasawa T, Tanahashi C, Akiyama M

    European journal of dermatology : EJD   Vol. 24 ( 1 ) page: 106-7   2014.1

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    DOI: 10.1684/ejd.2013.2224

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  276. Sweet's syndrome presenting with vegetative nodules on the hands: relationship to neutrophilic dermatosis of the dorsal hands. Reviewed

    Mizuno O, Yanagi T, Baba K, Yamane N, Inokuma D, Ito K, Akiyama M, Shimizu H

    International journal of dermatology   Vol. 53 ( 1 ) page: e46-8   2014.1

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    DOI: 10.1111/j.1365-4632.2011.05352.x

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  277. Next generation diagnostics of heritable connective tissue disorders. Reviewed

    Salam A, Simpson MA, Stone KL, Takeichi T, Nanda A, Akiyama M, McGrath JA

    Matrix biology : journal of the International Society for Matrix Biology   Vol. 33   page: 35-40   2014.1

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    DOI: 10.1016/j.matbio.2013.06.004

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  278. Impact of next generation sequencing on diagnostics in a genetic skin disease clinic. Reviewed

    Takeichi T, Nanda A, Liu L, Salam A, Campbell P, Fong K, Akiyama M, Ozoemena L, Stone KL, Al-Ajmi H, Simpson MA, McGrath JA

    Experimental dermatology   Vol. 22 ( 12 ) page: 825-31   2013.12

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    DOI: 10.1111/exd.12276

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  279. Clinicopathologic analysis of 66 Japanese thin melanomas with metastasis of sentinel or regional lymph node. Reviewed

    Mori M, Sugiura M, Kono M, Matsumoto T, Sawada M, Yokota K, Yasue S, Shibata S, Sakakibara A, Nakamura S, Tomita Y, Akiyama M

    Journal of cutaneous pathology   Vol. 40 ( 12 ) page: 1027-34   2013.12

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1111/cup.12222

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  280. Pulmonary mucosa-associated lymphoid tissue lymphoma in Sjögren's syndrome without interstitial pneumonia. Reviewed

      Vol. 16 ( 6 ) page: 780-2   2013.12

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    DOI: 10.1111/1756-185X.12210

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  281. Metastatic skin lesions of multiple myeloma presenting as two extraordinarily large subcutaneous tumors. Reviewed

    Karasawa T, Matsumoto T, Akiyama M

    International journal of dermatology   Vol. 52 ( 12 ) page: 1568-70   2013.12

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    DOI: 10.1111/j.1365-4632.2011.05231.x

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  282. Dyschromatosis symmetrica hereditaria by ADAR1 mutations and viral encephalitis: a hidden link? Reviewed

    Kono M, Akiyama M, Suganuma M, Tomita Y, Sanchez-Valle A

    International journal of dermatology   Vol. 52 ( 12 ) page: 1582-4   2013.12

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    DOI: 10.1111/j.1365-4632.2011.05372.x

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  283. The majority of generalized pusular psoriasis without psoriasis vulgaris is caused by deficiency of interleukin-36 receptor antagonist Reviewed

    Sugiura K, Takemoto A, Yamaguchi M, Takahashi H, Shoda Y, Mitsuma T, Tsuda K, Nishida E, Togawa Y, Nakajima K, Sakakibara A, Kawachi S, Shimizu M, Ito Y, Takeichi T, Kono M, Ogawa Y, Muro Y, Ishida-Yamamoto A, Sano S, Matsue H, Morita A, Mizutani H, Iizuka H, Muto M, Akiyama M

    J Invest Dermatol   Vol. 133 ( 11 ) page: 2514-2521   2013.11

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  284. Alopecia totalis in monosomy 18p. Reviewed

    Sugiura K, Takeichi T, Akiyama M

    European journal of dermatology : EJD   Vol. 23 ( 6 ) page: 899-900   2013.11

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    DOI: 10.1684/ejd.2013.2211

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  285. A novel ATP2C1 early truncation mutation suggests haploinsufficiency as a pathogenic mechanism in a patient with Hailey-Hailey disease. Reviewed

    Shibata A, Sugiura K, Kimura U, Takamori K, Akiyama M

    Acta dermato-venereologica   Vol. 93 ( 6 ) page: 719-20   2013.11

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    DOI: 10.2340/00015555-1551

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  286. Clouston syndrome with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild sensorineural hearing loss and photophobia. Reviewed

    Sugiura K, Teranishi M, Matsumoto Y, Akiyama M

    JAMA dermatology   Vol. 149 ( 11 ) page: 1350-1   2013.11

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    DOI: 10.1001/jamadermatol.2013.4766

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  287. Lamellar ichthyosis in a collodion baby caused by CYP4F22 mutations in a non-consanguineous family outside the Mediterranean. Reviewed

    Sugiura K, Takeichi T, Tanahashi K, Ito Y, Kosho T, Saida K, Uhara H, Okuyama R, Akiyama M

    Journal of dermatological science   Vol. 72 ( 2 ) page: 193-5   2013.11

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    DOI: 10.1016/j.jdermsci.2013.06.008

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  288. Very mild lamellar ichthyosis with compound heterozygous TGM1 mutations including the novel missense mutation p.Leu693Phe. Reviewed

    Sugiura K, Suga Y, Akiyama M

    Journal of dermatological science   Vol. 72 ( 2 ) page: 197-9   2013.11

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    DOI: 10.1016/j.jdermsci.2013.06.013

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  289. Unilaterally dominant eosinophilic fasciitis after influenza vaccination. Reviewed

    Sugiura K, Matsumoto T, Muro Y, Akiyama M

    Journal of the American Academy of Dermatology   Vol. 69 ( 5 ) page: e269-70   2013.11

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    DOI: 10.1016/j.jaad.2013.06.044

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  290. Cutaneous lupus mucinosis successfully treated with systemic corticosteroid and systemic tacrolimus combination therapy. Reviewed

    Sugiura K, Tanahashi K, Muro Y, Akiyama M

    Journal of the American Academy of Dermatology   Vol. 69 ( 4 ) page: e200-2   2013.10

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    DOI: 10.1016/j.jaad.2013.04.057

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  291. Aberrant distribution patterns of corneodesmosomal components of tape-stripped corneocytes in atopic dermatitis and related skin conditions (ichthyosis vulgaris, Netherton syndrome and peeling skin syndrome type B). Reviewed

    Igawa S, Kishibe M, Honma M, Murakami M, Mizuno Y, Suga Y, Seishima M, Ohguchi Y, Akiyama M, Hirose K, Ishida-Yamamoto A, Iizuka H

    Journal of dermatological science   Vol. 72 ( 1 ) page: 54-60   2013.10

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    DOI: 10.1016/j.jdermsci.2013.05.004

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  292. A novel keratin 5 mutation in an African family with epidermolysis bullosa simplex indicates the importance of the amino acid located at the boundary site between the H1 and coil 1A domains. Reviewed

    Shinkuma S, Nishie W, Jacyk WK, Natsuga K, Ujiie H, Nakamura H, Akiyama M, Shimizu H

    Acta dermato-venereologica   Vol. 93 ( 5 ) page: 585-7   2013.9

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    DOI: 10.2340/00015555-1538

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  293. Sporadic VACTERL association in a Japanese family with Sjögren-Larsson syndrome. Reviewed

      Vol. 93 ( 5 ) page: 579-80   2013.9

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    DOI: 10.2340/00015555-1526

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  294. Benefit of skin ultrasound examination in determining the area of inguinal lymph node dissection. Reviewed

    Kobayashi T, Yokota K, Sawada M, Matsumoto T, Akiyama M

    The Journal of dermatology   Vol. 40 ( 9 ) page: 765-6   2013.9

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    DOI: 10.1111/1346-8138.12236

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  295. Possible roles of barrier-to-autointegration factor 1 in regulation of keratinocyte differentiation and proliferation. Reviewed

    Takama H, Sugiura K, Ogawa Y, Muro Y, Akiyama M

    Journal of dermatological science   Vol. 71 ( 2 ) page: 100-6   2013.8

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    DOI: 10.1016/j.jdermsci.2013.04.007

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  296. Extraordinarily long linear cutaneous lupus erythematosus along the lines of Blaschko. Reviewed

    Aiyama A, Muro Y, Sugiura K, Onouchi H, Akiyama M

    Dermatology online journal   Vol. 19 ( 7 ) page: 18960   2013.7

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  297. What autoantibody tests should become widely available to help scleroderma diagnosis and management? Reviewed

    Muro Y, Sugiura K, Akiyama M

    Arthritis research & therapy   Vol. 15 ( 4 ) page: 116   2013.7

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    DOI: 10.1186/ar4241

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  298. Impaired epidermal permeability barrier in mice lacking the Elovl1 gene responsible for very long-chain fatty acid production Reviewed

    Sassa T, Ohno Y, Suzuki S, Nomura T, Nishioka C, Kashiwagi T, Hirayama T, Akiyama M, Taguchi R, Shimizu H, Itohara S, Kihara A

    Mol Cell Biol   Vol. 33 ( 14 ) page: 2787-2796   2013.7

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  299. Low prevalence of anti-small ubiquitin-like modifier activating enzyme antibodies in dermatomyositis patients. Reviewed

    Muro Y, Sugiura K, Akiyama M

    Autoimmunity   Vol. 46 ( 4 ) page: 279-84   2013.6

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    DOI: 10.3109/08916934.2012.755958

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  300. Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease Reviewed

    Kono M, Sugiura K, Suganuma M, Hayashi M, Takama H, Suzuki T, Matsunaga K, Tomita Y, Akiyama M

    Hum Mol Genet   Vol. 22 ( 17 ) page: 3524-3533   2013.5

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  301. Cryptococcal cellulitis in a patient with bullous pemphigoid. Reviewed

    Sugiura K, Sugiura N, Yagi T, Iguchi M, Ohno H, Miyazaki Y, Akiyama M

    Acta dermato-venereologica   Vol. 93 ( 2 ) page: 187-8   2013.3

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    DOI: 10.2340/00015555-1385

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  302. Limitations of a single-point evaluation of anti-MDA5 antibody, ferritin, and IL-18 in predicting the prognosis of interstitial lung disease with anti-MDA5 antibody-positive dermatomyositis. Reviewed

    Muro Y, Sugiura K, Akiyama M

    Clinical rheumatology   Vol. 32 ( 3 ) page: 395-8   2013.3

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1007/s10067-012-2142-x

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  303. Novel ABCA12 splice site deletion mutation and ABCA12 mRNA analysis of pulled hair samples in harlequin ichthyosis. Reviewed

    Takeichi T, Sugiura K, Matsuda K, Kono M, Akiyama M

    Journal of dermatological science   Vol. 69 ( 3 ) page: 259-61   2013.3

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    DOI: 10.1016/j.jdermsci.2012.11.004

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  304. Low prevalence of autoantibodies to CENP-H, -I, -K, -L, -M, -N, -T and -U in a Japanese cohort of anti-centromere positive samples. Reviewed

    Saito A, Muro Y, Sugiura K, Akiyama M

    Immunopharmacology and immunotoxicology   Vol. 35 ( 1 ) page: 57-63   2013.2

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    DOI: 10.3109/08923973.2012.733707

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  305. Paraneoplastic pemphigus with anti-laminin-332 autoantibodies in a patient with follicular dendritic cell sarcoma. Reviewed

    Sugiura K, Koga H, Ishikawa R, Matsumoto T, Matsubara M, Hagiwara R, Muro Y, Hashimoto T, Akiyama M

    JAMA dermatology   Vol. 149 ( 1 ) page: 111-3   2013.1

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    DOI: 10.1001/2013.jamadermatol.512

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  306. Low prevalence of anti-DFS70/LEDGF antibodies in patients with dermatomyositis and other systemic autoimmune rheumatic diseases. Reviewed

    Muro Y, Sugiura K, Nakashima R, Mimori T, Akiyama M

    The Journal of rheumatology   Vol. 40 ( 1 ) page: 92-3   2013.1

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    DOI: 10.3899/jrheum.121168

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  307. The roles of ABCA12 in epidermal lipid barrier formation and keratinocyte differentiation Invited Reviewed

    Akiyama M

    BBA-Mol Cell Biol Lipid     2013

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    DOI: S1388-1981(13)00169-8. 10.1016/j.bbalip.2013.08.009

  308. A new ELISA for dermatomyositis autoantibodies: rapid introduction of autoantigen cDNA to recombinant assays for autoantibody measurement. Reviewed

    Muro Y, Sugiura K, Akiyama M

    Clinical & developmental immunology   Vol. 2013   page: 856815   2013

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    DOI: 10.1155/2013/856815

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  309. Angiokeratoma of the scrotum and sublingual varices in a patient with jejunal phlebectasia. Reviewed

    Takama H, Sugiura K, Ohmiya N, Goto H, Akiyama M

    European journal of dermatology : EJD   Vol. 22 ( 6 ) page: 818-9   2012.11

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    DOI: 10.1684/ejd.2012.1868

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  310. Extraordinarily large protruding accessory breast cancer in a man. Reviewed

    Yoshida Y, Sakakibara A, Watanabe T, Noto K, Sakita K, Sakai Y, Amemiya T, Akiyama M

    Journal of the American Academy of Dermatology   Vol. 67 ( 5 ) page: e230-1   2012.11

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    DOI: 10.1016/j.jaad.2012.04.034

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  311. Autoantibodies to nuclear matrix protein 2/MJ in adult-onset dermatomyositis with severe calcinosis. Reviewed

    Sugiura K, Muro Y, Akiyama M

    Journal of the American Academy of Dermatology   Vol. 67 ( 4 ) page: e167-8   2012.10

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    DOI: 10.1016/j.jaad.2012.01.015

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  312. Four novel ADAR1 gene mutations in patients with dyschromatosis symmetrica hereditaria. Reviewed

    Kono M, Akiyama M, Kondo T, Suzuki T, Suganuma M, Wataya-Kaneda M, Lam J, Shibaki A, Tomita Y

    The Journal of dermatology   Vol. 39 ( 9 ) page: 819-21   2012.9

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    DOI: 10.1111/j.1346-8138.2011.01385.x

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  313. Coexistence of pustular and vegetative pyoderma gangrenosum in a patient with myelodysplastic syndrome. Reviewed

    Omiya W, Ujiie H, Akiyama M, Izumi K, Shigematsu A, Onozawa M, Shimizu H

    European journal of dermatology : EJD   Vol. 22 ( 5 ) page: 711-2   2012.9

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    DOI: 10.1684/ejd.2012.1813

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  314. Binding of von Willebrand factor cleaving protease ADAMTS13 to Lys-plasmin(ogen). Reviewed

    Shin Y, Akiyama M, Kokame K, Soejima K, Miyata T

    Journal of biochemistry   Vol. 152 ( 3 ) page: 251-8   2012.9

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    DOI: 10.1093/jb/mvs066

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  315. Clinical features of anti-TIF1-α antibody-positive dermatomyositis patients are closely associated with coexistent dermatomyositis-specific autoantibodies and anti-TIF1-γ or anti-Mi-2 autoantibodies. Reviewed

      Vol. 51 ( 8 ) page: 1508-13   2012.8

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    DOI: 10.1093/rheumatology/kes073

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  316. The β9 loop domain of PA-PLA1α has a crucial role in autosomal recessive woolly hair/hypotrichosis. Reviewed

      Vol. 132 ( 8 ) page: 2093-5   2012.8

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    DOI: 10.1038/jid.2012.96

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  317. A group of atopic dermatitis without IgE elevation or barrier impairment shows a high Th1 frequency: possible immunological state of the intrinsic type. Reviewed

    Kabashima-Kubo R, Nakamura M, Sakabe J, Sugita K, Hino R, Mori T, Kobayashi M, Bito T, Kabashima K, Ogasawara K, Nomura Y, Nomura T, Akiyama M, Shimizu H, Tokura Y

    Journal of dermatological science   Vol. 67 ( 1 ) page: 37-43   2012.7

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    DOI: 10.1016/j.jdermsci.2012.04.004

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  318. Development of an ELISA for detection of autoantibodies to nuclear matrix protein 2. Reviewed

    Ishikawa A, Muro Y, Sugiura K, Akiyama M

    Rheumatology (Oxford, England)   Vol. 51 ( 7 ) page: 1181-7   2012.7

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    DOI: 10.1093/rheumatology/kes033

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  319. Perinatal cytomegalovirus-associated bullae in an immunocompetent infant. Reviewed

    Yasuda K, Sugiura K, Ishikawa R, Kihira M, Negishi Y, Iwayama H, Ito K, Kimura H, Kosugi I, Akiyama M

    Archives of dermatology   Vol. 148 ( 6 ) page: 770-2   2012.6

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    DOI: 10.1001/archdermatol.2011.3258

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  320. Drug eruption due to sodium picosulfate. Reviewed

    Ishikawa A, Sugiura K, Sato A, Muro Y, Akiyama M

    European journal of dermatology : EJD   Vol. 22 ( 3 ) page: 410-1   2012.5

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    DOI: 10.1684/ejd.2012.1679

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  321. Disappearance of anti-MDA-5 autoantibodies in clinically amyopathic DM/interstitial lung disease during disease remission. Reviewed

    Muro Y, Sugiura K, Hoshino K, Akiyama M

    Rheumatology (Oxford, England)   Vol. 51 ( 5 ) page: 800-4   2012.5

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    DOI: 10.1093/rheumatology/ker408

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  322. CYP4F22 is highly expressed at the site and timing of onset of keratinization during skin development. Reviewed

    Sasaki K, Akiyama M, Yanagi T, Sakai K, Miyamura Y, Sato M, Shimizu H

    Journal of dermatological science   Vol. 65 ( 2 ) page: 156-8   2012.2

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    DOI: 10.1016/j.jdermsci.2011.12.006

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  323. Severe chilblain lupus is associated with heterozygous missense mutations of catalytic amino acids or their adjacent in the exonuclease domains of 3'-repair exonuclease 1 Reviewed

    Sugiura K, Takeichi T, Kono M, Ito Y, Ogawa Y, Muro Y, Akiyama M

    J Invest Dermatol     2012

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    DOI: 10.1038/jid.2012.210

  324. Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma Reviewed

    Pohler E, Mamai O, Hirst J, Zamiri M, Horn H, Nomura T, Irvine AD, Moran BE, Wilson NJ, Smith FJD, Goh CSM, Sandilands A, Cole C, Barton GJ, Evans AT, Shimizu H, Akiyama M, Suehiro A, Konohana I, Shboul M, Teissier, Boussofara L, Denguezli M, Saad A, Gribaa M, Dopping-Hepenstal PJ, McGrath JA, Brown SJ, Goudie DR, Reversade B, Munro CS, McLean WHI

    Nature Genetics   Vol. 44   page: 1272-1276   2012

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  325. Type VII collagen deficiency causes defective tooth enamel formation due to poor differentiation of ameloblasts. Reviewed

    Umemoto H, Akiyama M, Domon T, Nomura T, Shinkuma S, Ito K, Asaka T, Sawamura D, Uitto J, Uo M, Kitagawa Y and Shimizu H

    Am J Pathol   Vol. 181   page: 1659-1671   2012

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  326. Detection of Merkel cell polyomavirus in cutaneous squamous cell carcinoma before occurrence of Merkel cell carcinoma. Reviewed

    Kaibuchi-Noda K, Yokota K, Matsumoto T, Sawada M, Sakakibara A, Kono M, Tomita Y, Watanabe D, Fukumoto H, Katano H, Akiyama M

    Journal of the American Academy of Dermatology   Vol. 65 ( 5 ) page: e152-4   2011.11

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    DOI: 10.1016/j.jaad.2011.06.026

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  327. Abca12-mediated lipid transport and Snap29-dependent trafficking of lamellar granules are crucial for epidermal morphogenesis in a zebrafish model of ichthyosis. Reviewed

    Li Q, Frank M, Akiyama M, Shimizu H, Ho SY, Thisse C, Thisse B, Sprecher E, Uitto J

    Disease models & mechanisms   Vol. 4 ( 6 ) page: 777-85   2011.11

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    DOI: 10.1242/dmm.007146

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  328. LEDGF/DFS70 activates the MK2/IL6/STAT3 pathway in HaCaT. Reviewed

    Takeichi T, Kazumitsu Sugiura K, Muro Y, Ogawa Y, Akiyama M.

    J Dermatol Sci   Vol. 63 ( 3 ) page: 203-205   2011.9

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  329. AKT has an anti-apoptotic role in ABCA12-deficient keratinocytes. Reviewed

    Yanagi T, Akiyama M, Nishihara H, Miyamura Y, Sakai K, Tanaka S, Shimizu H

    The Journal of investigative dermatology   Vol. 131 ( 9 ) page: 1942-5   2011.9

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    DOI: 10.1038/jid.2011.132

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  330. Updated molecular genetics and pathogenesis of ichthiyoses. Reviewed

    Akiyama M

    Nagoya journal of medical science   Vol. 73 ( 3-4 ) page: 79-90   2011.8

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  331. Altered lipid profiles in the stratum corneum of Sjögren-Larsson syndrome. Reviewed

      Vol. 63 ( 1 ) page: 64-6   2011.7

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    DOI: 10.1016/j.jdermsci.2011.03.009

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  332. Hair shaft abnormalities in localized autosomal recessive hypotrichosis 2 and a review of other non-syndromic human alopecias. Reviewed

    Suga H, Tsunemi Y, Sugaya M, Shinkuma S, Akiyama M, Shimizu H, Sato S

    Acta dermato-venereologica   Vol. 91 ( 4 ) page: 486-8   2011.6

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    DOI: 10.2340/00015555-1095

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  333. The roles of ABCA12 in keratinocyte differentiation and lipid barrier formation in the epidermis. Reviewed

    Akiyama M

    Dermato-endocrinology   Vol. 3 ( 2 ) page: 107-12   2011.4

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    DOI: 10.4161/derm.3.2.15136

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  334. Epidemiologic study of clinically amyopathic dermatomyositis and anti-melanoma differentiation-associated gene 5 antibodies in central Japan. Reviewed

    Muro Y, Sugiura K, Hoshino K, Akiyama M, Tamakoshi K

    Arthritis research & therapy   Vol. 13 ( 6 ) page: R214   2011

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    DOI: 10.1186/ar3547

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  335. ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts Reviewed

    Akiyama M

    Hum Mutat   Vol. 31 ( 10 ) page: 1090-6   2010.10

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  336. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. Reviewed

    Oji V, Tadini G, Akiyama M, Blanchet Bardon C, Bodemer C, Bourrat E, Coudiere P, DiGiovanna JJ, Elias P, Fischer J, Fleckman P, Gina M, Harper J, Hashimoto T, Hausser I, Hennies HC, Hohl D, Hovnanian A, Ishida-Yamamoto A, Jacyk WK, Leachman S, Leigh I, Mazereeuw-Hautier J, Milstone L, Morice-Picard F, Paller AS, Richard G, Schmuth M, Shimizu H, Sprecher E, Van Steensel M, Taïeb A, Toro JR, Vabres P, Vahlquist A, Williams M, Traupe H

      Vol. 63 ( 4 ) page: 607-41   2010.10

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    DOI: 10.1016/j.jaad.2009.11.020

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  337. Bone marrow transplantation restores epidermal basement membrane protein expression and rescues epidermolysis bullosa model mice Reviewed

    Fujita Y, Abe R, Inokuma D, Sasaki M, Hoshina D, Natsuga K, Nishie W, McMillan JR, Nakamura H, Shimizu T, Akiyama M, Sawamura D, Shimizu H

    Proc Natl Acad Sci U S A   Vol. 107 ( 32 ) page: 14345-50   2010.8

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  338. Self-improvement of keratinocyte differentiation defects during skin maturation in ABCA12-deficient harlequin ichthyosis model mice Reviewed

    Yanagi T, Akiyama M, Nishihara H, Ishikawa J, Sakai K, Miyamura Y, Naoe A, Kitahara T, Tanaka S, Shimizu H

    Am J Pathol   Vol. 177 ( 1 ) page: 106-18   2010.7

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  339. Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis Reviewed

    Shinkuma S, Akiyama M, Inoue A, Aoki J, Natsuga K, Nomura T, Arita K, Abe R, Ito K, Nakamura H, Ujiie H, Shibaki A, Suga H, Tsunemi Y, Nishie W, Shimizu H

    Hum Mutat   Vol. 31 ( 5 ) page: 602-10   2010.5

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  340. Transglutaminase1 preferred substrate peptide K5 is an efficient tool in diagnosis of lamellar ichthyosis Reviewed

    Akiyama M, Sakai K, Yanagi T, Fukushima S, Ihn H, Hitomi K, Shimizu H

    Am J Pathol   Vol. 176 ( 4 ) page: 1592-9   2010.4

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  341. Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex Reviewed

    Natsuga K, Nishie W, Akiyama M, Nakamura H, Shinkuma S, McMillan JR, Nagasaki A, Has C, Ouchi T, Ishiko A, Hirako Y, Owaribe K, Sawamura D, Bruckner-Tuderman L, Shimizu H

    Hum Mutat   Vol. 31 ( 3 ) page: 308-16   2010.3

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  342. A novel active mouse model for bullous pemphigoid targeting humanized pathogenic antigen Reviewed

    Ujiie H, Shibaki A, Nishie W, Sawamura D, Wang G, Tateishi Y, Li Q, Moriuchi R, Qiao H, Nakamura H, Akiyama M, Shimizu H

    J Immunol   Vol. 184 ( 4 ) page: 2166-74   2010.2

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  343. Keratinocyte-/fibroblast-targeted rescue of Col7a1-disrupted mice and generation of an exact dystrophic epidermolysis bullosa model using a human COL7A1 mutation Reviewed

    Ito K, Sawamura D, Goto M, Nakamura H, Nishie W, Sakai K, Natsuga K, Shinkuma S, Shibaki A, Uitto J, Denton CP, Nakajima O, Akiyama M, Shimizu H

    Am J Pathol   Vol. 175 ( 6 ) page: 2508-17   2009.12

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  344. Ceramide stimulates ABCA12 expression via peroxisome proliferator-activated receptor delta in human keratinocytes Reviewed

    Jiang YJ, Uchida Y, Lu B, Kim P, Mao C, Akiyama M, Elias PM, Holleran WM, Grunfeld C, Feingold KR

    J Biol Chem   Vol. 284 ( 28 ) page: 18942-52   2009.7

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  345. Embryonic hair follicle fate change by augmented beta-catenin through Shh and Bmp signaling Reviewed

    Suzuki K, Yamaguchi Y, Villacorte M, Mihara K, Akiyama M, Shimizu H, Taketo MM, Nakagata N, Tsukiyama T, Yamaguchi TP, Birchmeier W, Kato S, Yamada G

    Development   Vol. 136 ( 3 ) page: 367-72   2009.2

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  346. Glycosylation specific for adhesion molecules in epidermis and its receptor revealed by glycoform-focused reverse genomics Reviewed

    Uematsu R, Shinohara Y, Nakagawa H, Kurogochi M, Furukawa J, Miura Y, Akiyama M, Shimizu H, Nishimura S

    Mol Cell Proteomics   Vol. 8 ( 2 ) page: 232-44   2009.2

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  347. Type XVII collagen is a key player in tooth enamel formation Reviewed

    Asaka T, Akiyama M, Domon T, Nishie W, Natsuga K, Fujita Y, Abe R, Kitagawa Y, Shimizu H

    Am J Pathol   Vol. 174 ( 1 ) page: 91-100   2009.1

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    Authorship:Lead author   Language:English   Publishing type:Research paper (scientific journal)  

  348. CGI-58 is an alpha/beta-hydrolase within lipid transporting lamellar granules of differentiated keratinocytes Reviewed

    Akiyama M, Sakai K, Takayama C, Yanagi T, Yamanaka Y, McMillan JR, Shimizu H

    Am J Pathol   Vol. 173 ( 5 ) page: 1349-60   2008.11

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  349. Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects Reviewed

    Yanagi T, Akiyama M, Nishihara H, Sakai K, Nishie W, Tanaka S, Shimizu H

    Hum Mol Genet   Vol. 17 ( 19 ) page: 3075-83   2008.10

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  350. Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis Reviewed

    Arita K, South AP, Hans-Filho G, Sakuma TH, Lai-Cheong J, Clements S, Odashiro M, Odashiro DN, Hans-Neto G, Hans NR, Holder MV, Bhogal BS, Hartshorne ST, Akiyama M, Shimizu H, McGrath JA

    Am J Hum Genet   Vol. 82 ( 1 ) page: 73-80   2008.1

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  351. Expression of the keratinocyte lipid transporter ABCA12 in developing and reconstituted human epidermis Reviewed

    Yamanaka Y, Akiyama M, Sugiyama-Nakagiri Y, Sakai K, Goto M, McMillan JR, Ota M, Sawamura D, Shimizu H

    Am J Pathol   Vol. 171 ( 1 ) page: 43-52   2007.7

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  352. Humanization of autoantigen Reviewed

    Nishie W, Sawamura D, Goto M, Ito K, Shibaki A, McMillan JR, Sakai K, Nakamura H, Olasz E, Yancey KB, Akiyama M, Shimizu H

    Nat Med   Vol. 13 ( 3 ) page: 378-83   2007.3

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  353. Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis Reviewed

    Nomura T, Sandilands A, Akiyama M, Liao H, Evans AT, Sakai K, Ota M, Sugiura H, Yamamoto K, Sato H, Palmer CN, Smith FJ, McLean WH, Shimizu H

    J Allergy Clin Immunol   Vol. 119 ( 2 ) page: 434-40   2007.2

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  354. A novel N14Y mutation in Connexin26 in keratitis-ichthyosis-deafness syndrome: analyses of altered gap junctional communication and molecular structure of N terminus of mutated Connexin26 Reviewed

    Arita K, Akiyama M, Aizawa T, Umetsu Y, Segawa I, Goto M, Sawamura D, Demura M, Kawano K, Shimizu H

    Am J Pathol   Vol. 169 ( 2 ) page: 416-23   2006.8

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  355. Expression of RNA-binding protein Musashi in hair follicle development and hair cycle progression Reviewed

    Sugiyama-Nakagiri Y, Akiyama M, Shibata S, Okano H, Shimizu H

    Am J Pathol   Vol. 168 ( 1 ) page: 80-92   2006.1

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  356. Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer Reviewed

    Akiyama M, Sugiyama-Nakagiri Y, Sakai K, McMillan JR, Goto M, Arita K, Tsuji-Abe Y, Tabata N, Matsuoka K, Sasaki R, Sawamura D, Shimizu H

    J Clin Invest   Vol. 115 ( 7 ) page: 1777-84   2005.7

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  357. Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome Reviewed

    Siegel DH, Ashton GH, Penagos HG, Lee JV, Feiler HS, Wilhelmsen KC, South AP, Smith FJ, Prescott AR, Wessagowit V, Oyama N, Akiyama M, Al Aboud D, Al Aboud K, Al Githami A, Al Hawsawi K, Al Ismaily A, Al-Suwaid R, Atherton DJ, Caputo R, Fine JD, Frieden IJ, Fuchs E, Haber RM, Harada T, Kitajima Y, Mallory SB, Ogawa H, Sahin S, Shimizu H, Suga Y, Tadini G, Tsuchiya K, Wiebe CB, Wojnarowska F, Zaghloul AB, Hamada T, Mallipeddi R, Eady RA, McLean WH, McGrath JA, Epstein EH

    Am J Hum Genet   Vol. 73 ( 1 ) page: 174-87   2003.7

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  358. Oesophageal involvement in pemphigus vulgaris Reviewed

    Gomi H, Akiyama M, Yakabi K, Nakamura T, Matsuo I

    Lancet   Vol. 354 ( 9192 ) page: 1794   1999.11

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  359. Prenatal diagnosis of tyrosinase-negative oculocutaneous albinism Reviewed

    Shimizu H, Ishiko A, Kikuchi A, Akiyama M, Suzumori K, Nishikawa T

    Lancet   Vol. 340 ( 8821 ) page: 739-40   1992.9

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KAKENHI (Grants-in-Aid for Scientific Research) 17

  1. Revertant mosaicism in autoinflammatory skin diseases

    Grant number:19H03679  2019.04 - 2022.03

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    Authorship:Coinvestigator(s) 

  2. 新たな細胞医薬戦略を目指した体細胞復帰変異発生機序の解析と制御法の開発

    Grant number:18K19540  2018.06 - 2021.03

    挑戦的研究(萌芽)

    秋山 真志

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    Authorship:Principal investigator 

    Grant amount:\6370000 ( Direct Cost: \4900000 、 Indirect Cost:\1470000 )

    本研究では、先天性魚鱗癬の一種であるichthyosis with confetti(IWC)に着目した。この疾患では、異常な高頻度で「体細胞復帰突然変異によるモザイク現象」(revertant somatic mosaicism, RSM)を生じている。RSMを起こした健常組織は、患者本人の細胞からなり、一般に免疫原性が認められない為、細胞医薬として理想的である。IWCでは、原因遺伝子KRT1、KRT10の特定の領域に変異が集中するが、RSMが高頻度に生じる理由は不明である。本研究では、IWCのモデル細胞系とモデル動物系を世界に先駆けて作成し、それらの系を用いて、RSMの分子的機序の解明を目指した。具体的には、以下の二つのプロジェクトを行った。
    (1)不死化ケラチノサイトを用いたIWC皮膚表皮細胞のモデル系とスクリーニングプラットホームの構築:KRT1のゲノムサイズは約4.5kbと小さく、in situでの遺伝子操作に極めて適しているため、KRT1変異によるモデル系の作成を行った。KRT1遺伝子にCRISPR-Cas9によるヘテロ接合性遺伝子変異導入を行い、野生型および変異KRT1を有する不死化ケラチノサイトを作成し、それぞれ異なる蛍光蛋白で標識した。これらのIWCモデル細胞をスクリーニング系として、RSMを促進する条件についてのケミカルクスリーニング、DNAストレス、siRNAスクリーニングなどの各種スクリーニングプラットホームの構築を試みた。
    (2)薬剤投与により誘導可能なIWCモデルマウスの作成:CRISPR-Cas9によりKrt1-EGFPノックインマウスの作成を行った。表皮特異的CreER発現マウスは購入し、4-OHT誘導性mRFPおよび変異KRT1発現カセットをCRISPR-Cas9によるゲノム編集によりヘテロ接合性に導入したマウスを、上記2種のマウスと掛け合わせることにより、IWC症状を薬剤誘導性に発症するモデルマウスの作成を試みた。
    本研究計画では、KRT1遺伝子の変異をCRISPR-Cas9によりヘテロ接合性に導入し、変異KRT1を有する不死化表皮細胞を作成し、復帰体細胞変異を頻発するモデル細胞をスクリーニング系として樹立する計画であった。しかし、復帰体細胞変異を頻発するモデル細胞が、培養条件のためか、予定通りに樹立できず、復帰体細胞変異を促進する条件についてのスクリーニングプラットホームの構築のための事前調査に想定以上の時間を要した。そのため、研究計画全体に、やや遅れを生じた。
    今後の研究において、具体的には、以下の二つのプロジェクトを推進する方針である。
    (1)不死化ケラチノサイトを用いたIWC皮膚表皮細胞のモデル系とスクリーニングプラットホームの構築:これまでの研究の若干の遅れのため、本研究でのKRT1変異によるモデル細胞系の作成実験の一部が、未施行の状態である。この未施行部分を、令和2年度の前半に行い、KRT1遺伝子にCRISPR-Cas9によるヘテロ接合性遺伝子変異導入を行い、野生型および変異KRT1を有する不死化ケラチノサイトを作成し、それぞれ異なる蛍光蛋白で標識したIWCモデル細胞を完全に樹立する。その細胞をスクリーニング系として、RSMを促進する条件についてのケミカルクスリーニング、DNAストレス、siRNAスクリーニングなどの各種スクリーニングプラットホームを完成させる。
    (2)RSM発生の分子機序の解析とRSMの発生を制御しうる低分子化合物の探索:上記モデル細胞系を用いて、種々の条件下でのRSM発生頻度、発生機序を解析する。さらに、低分子化合物ライブラリを用いたスクリーニングにより、RSMの発生を制御しうる低分子化合物を探索する。

  3. 表皮脂質の異常による魚鱗癬発症メカニズムの解明と新規治療薬開発への展開

    Grant number:18H02832  2018.04 - 2021.03

    秋山 真志

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    Authorship:Principal investigator 

    Grant amount:\17420000 ( Direct Cost: \13400000 、 Indirect Cost:\4020000 )

    本研究では、大きく分けて、「常染色体劣性先天性魚鱗癬患者を対象とする病因解明とデータバンク、バイオバンク作成プロジェクト」、「常染色体劣性先天性魚鱗癬の病態解明プロジェクト」、「常染色体劣性先天性魚鱗癬の新規病因治療薬開発プロジェクト」の3つのプロジェクトを実施して来ている。本年度においては、「常染色体劣性先天性魚鱗癬患者を対象とする病因解明とデータバンク、バイオバンク作成プロジェクト」と「常染色体劣性先天性魚鱗癬の病態解明プロジェクト」とを、主に併行して進めたが、「常染色体劣性先天性魚鱗癬の新規病因治療薬開発プロジェクト」についても、一部着手した。具体的な本年度の研究実績の概要は以下である。
    1)常染色体劣性先天性魚鱗癬患者を対象とする病因解明とデータバンク、バイオバンク作成プロジェクト:全国的な常染色体劣性先天性魚鱗癬患者の集積と脂質関連病因遺伝子の同定を行い、多数の常染色体劣性先天性魚鱗癬患者臨床情報と病因の遺伝情報(主に脂質関連遺伝子の病因遺伝子変異)を患者レジストリへ登録、データバンクを作成した。集積した常染色体劣性先天性魚鱗癬患者からのDNA、RNA、皮膚組織等の生体試料のバイオバンクも作成した。
    2)常染色体劣性先天性魚鱗癬の病態解明プロジェクト:実際の常染色体劣性先天性魚鱗癬患者の病因遺伝子変異をCRISPR-Cas9によるゲノム編集技術を用いてノックインした真の疾患モデル細胞、モデルマウスを作成した。
    3)常染色体劣性先天性魚鱗癬の新規病因治療薬開発プロジェクト:上記の真の常染色体劣性先天性魚鱗癬モデル細胞を用いて、化合物ライブラリーをスクリーニングした。さらに、既存薬ライブラリーについてもドラッグ・リポジショニングを目指してスクリーニングを行った。
    平成30年10月、ヒト病因遺伝子変異を有する真の疾患モデル細胞を用いた化合物ライブラリーのスクリーニングを施行する過程で、治療効果についての有効なスクリーニングを行う為には、当初予定していた化合物の種類、濃度では不十分、不適切なことが判明した。この問題を解決するため、有効なスクリーニングに最適な化合物の種類と濃度について改めて調査、検討する必要が生じた。それらの事前調査に想定以上の時間を要したため、研究の進捗にやや遅れを生じている。
    今後も引き続き、「常染色体劣性先天性魚鱗癬患者を対象とする病因解明とデータバンク、バイオバンク作成プロジェクト」、「常染色体劣性先天性魚鱗癬の病態解明プロジェクト」、「常染色体劣性先天性魚鱗癬の新規病因治療薬開発プロジェクト」の3つのプロジェクトを並行して進める。具体的な研究の推進方策は以下である。
    1)常染色体劣性先天性魚鱗癬患者を対象とする病因解明とデータバンク、バイオバンク作成プロジェクト:引き続き、全国的な常染色体劣性先天性魚鱗癬患者の集積と脂質関連病因遺伝子の同定を行い、多数の常染色体劣性先天性魚鱗癬患者臨床情報と病因の遺伝情報(主に脂質関連遺伝子の病因遺伝子変異)を患者レジストリへ登録、データバンクを作る。初年度に引き続き、集積した常染色体劣性先天性魚鱗癬患者からのDNA、RNA、皮膚組織等の生体試料のバイオバンクを作成する。
    2)常染色体劣性先天性魚鱗癬の病態解明プロジェクト:引き続き、実際の常染色体劣性先天性魚鱗癬患者の病因遺伝子変異をCRISPR-Cas9によるゲノム編集技術を用いてノックインした真の疾患モデルマウスを用いて、皮膚の角化障害の評価と表皮脂質分析を施行する。
    3)常染色体劣性先天性魚鱗癬の新規病因治療薬開発プロジェクト:これまでに作成した真の常染色体劣性先天性魚鱗癬モデル細胞を用いて、引き続き、化合物ライブラリーをスクリーニングし、魚鱗癬治療薬候補の選定を行う。さらに、既存薬ライブラリーについてもドラッグ・リポジショニングを目指してスクリーニングを進める。

  4. Investigation of host-bacterial interactions in staphylococcal cutaneous infection and development of its prevention strategies

    Grant number:17H03922  2017.04 - 2020.03

    NISHIFUJI Koji

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    Authorship:Coinvestigator(s) 

    In this study, we aimed to investigate how staphylococci invade to the epidermis through the strartum corneum of barrier-disrupted skin.
    1. A conditional knockout mouse line in which sptlc2 gene that is involved in production of sphingolipids is deleted in the stratified squamous epithelia. We revealed that sptlc2 gene is effectively deleted in the mouse line 2-3 weeks after induction of gene-recombination by tamoxifen.
    2. We also aimed to identify cell-wall molecules or exotoxins involved in intra-epidermal invasion of staphylococcus aureus. We revealed that mutant S. aureus RN4220 strain in which either protein A or basic phospolipids are deleted tended to decrease neutrophilic migration to the epidermis than wild-type RN4220.

  5. モデルマウスと抗体アレイによる網状肢端色素沈着症の包括的病態解明と治療薬開発

    Grant number:17K10240  2017.04 - 2020.03

    河野 通浩

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    Authorship:Coinvestigator(s) 

  6. Elucidation of novel pathomechanisms due to defects in remote enhancers and chromatin domain TADs in genodermatosis

    Grant number:16K15547  2016.04 - 2018.03

    AKIYAMA Masashi

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    Authorship:Principal investigator 

    Grant amount:\3380000 ( Direct Cost: \2600000 、 Indirect Cost:\780000 )

    We performed whole-exome sequencing in 4 harlequin ichthyosis patients with only heterozygous ABCA12 mutations which was elucidated by Sanger sequencing. We found the other causative ABCA12 mutations in 3 cases, but did not detect any ABCA12 mutation in the other patient. We analyzed the genome structure by sequencing of genomic DNA flanking ABCA12 (approximately 5M bases), including ABCA12 topologically associating domain. However, no causative abnormalities were detected in the ABCA12 topologically associating domain. Furthermore, we investigated the chromatin modification of putative ABCA12 expression-associated regions. But, we detected no significant finding in genomic DNA from the family. We also studied the three-dimensional structure of the putative ABCA12 expression-associated genome regions using HI-C data bases. However, no causative aberrant three-dimensional genome structures were obtained in genomic DNA from the patient and the family members.

  7. 表皮における脂質メディエーターの役割の解明と角化異常症の新規治療戦略への展開

    2015.04 - 2018.03

    科学研究費補助金  基盤研究(B)

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  8. Elucidation of roles of lipid mediators in the epidermis to innovate novel therapeutic strategies for keratinization disorders

    Grant number:15H04887  2015.04 - 2018.03

    AKIYAMA Masashi

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    Authorship:Principal investigator 

    Grant amount:\17680000 ( Direct Cost: \13600000 、 Indirect Cost:\4080000 )

    In the present study, we accumulated families with inherited keratinization disorders including ichthyosis, and performed whole exome and/or whole genome sequencing using next generation sequencers to clarify genetic causes of the patients. Clinical information and data from the genetic analysis were collected as our data bank of patients with inherited keratinization disorders.
    To elucidate the interaction between epidermal lipid synthesis and metabolism, and differentiation and proliferation of the epidermal keratinocytes, we analyzed detailed epidermal lipid profiles and differentiation/proliferation statuses of the keratinocytes in our mouse models of inherited ichthyoses. We comprehensively summarized the effects of epidermal functional lipids on differentiation and proliferation of the epidermal keratinocytes. From the present results, we considered novel therapeutic manners for keratinization disorders using epidermal functional lipids and lipid mediators.

  9. 不活化変異の導入を治療原理とした多変異対応型遺伝子医療の実証的研究

    2015.04 - 2016.03

    科学研究費補助金 

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  10. Dynamic epigenetic change of keratinocytes in inflammtory skin diseases

    Grant number:26461657  2014.04 - 2018.03

    Yasushi Ogawa

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    Authorship:Other 

    This study aimed to investigate the roles of epigenetic changes of keratinocytes in the formation of inflammatory skin lesion of psoriasis. A reverse chemical genomics-approach was adopted. Topical imiquimod-induced skin inflammation was used as a mouse model of psoriasis, and various chemical inhibitors of chromatin modifying enzymes are applied to investigate their effect on the formation of the skin lesion. As a result we newly identified a histone demethylase inhibitor that promote the formation of the lesion, and a kinase inhibitor that suppress the skin lesion.

  11. 表皮細胞内ロジスティクスとしての脂質輸送システムの分子基盤の解明

    2010.04

    科学研究費補助金  挑戦的萌芽研究

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    Authorship:Principal investigator 

  12. 道化師様魚鱗癬の治療のための指針の作成と新規治療戦略の開発

    2009.04

    科学研究費補助金  厚生労働科研費補助金(難治性疾患克服研究事業)

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    Authorship:Principal investigator 

  13. 表皮細胞における脂質のATP結合トランスポーターABCA12の構造機能相関の解析

    2009.04

    科学研究費補助金  挑戦的萌芽研究

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    Authorship:Principal investigator 

  14. 魚鱗癬に対する新規治療法ならびに胎児療法の開発

    2008.04

    科学研究費補助金  基盤研究(B)(一般)

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    Authorship:Principal investigator 

  15. 重症型魚鱗癬の迅速診断法とDNAレベルでの出生前診断新規システムの確立

    2007.04

    科学研究費補助金  萌芽研究

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    Authorship:Principal investigator 

  16. ABCA12遺伝子変異による重症型魚鱗癬に対する新しい治療法の開発

    2006.04

    科学研究費補助金  基盤研究(B)(一般)

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  17. 毛包バルジ幹細胞への遺伝子導入による常染色体劣性遺伝性魚鱗癬の新規治療戦略の開発

    2004.04

    科学研究費補助金  基盤研究(B)(一般)

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    Authorship:Principal investigator 

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Industrial property rights 2

  1. Abca12遺伝子機能欠損マウス

    清水 宏、秋山真志、柳 輝希

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    Applicant:国立大学法人北海道大学

    Application no:特願2008-072866  Date applied:2008.3.21

    Country of applicant:1  

  2. 角化異常症の診断支援方法

    中川裕章、秋山真志、清水 宏、西村紳一郎、近藤裕郷

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    Applicant:国立大学法人北海道大学、塩野義製薬株式会社(主管)

    Application no:特願-2006-019199  Date applied:2006.1.27

    Announcement no:特開2007-198960 

    Country of applicant:1  

 

Teaching Experience (On-campus) 2

  1. 「遺伝と遺伝子」および「腫瘍医学」

    2011

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    「臨床遺伝学;単一遺伝性疾患」
    臨床遺伝学とは、遺伝学、分子生物学を、実際の臨床疾患を対象として応用し、臨床の現場に役立てる学問である。遺伝性疾患のなかで、一つの遺伝子の異常により生じる疾患が「単一遺伝性疾患」であるが、この講義では、主に皮膚科領域の単一遺伝性疾患を例にとり、単一遺伝性疾患の発症メカニズムから、遺伝子診断の実際、遺伝子治療への展望も含めて、講義する。

  2. Dermatology

    2011