Papers - AKIYAMA, Masashi
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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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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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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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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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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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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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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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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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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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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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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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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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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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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 Vol. 80 page： 28 - 38 2017.6
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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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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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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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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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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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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