Papers - TAKEICHI Takuya
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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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Autosomal dominant familial generalized pustular psoriasis caused by a CARD14 mutation. Reviewed
Takeichi T, Kobayashi A, Ogawa E, Okuno Y, Kataoka S, Kono M, Sugiura K, Okuyama R, Akiyama M.
Br J Dermatol. Vol. 177 ( 4 ) page: e133-e135 2017.10
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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. Reviewed International journal
Takuya Takeichi, Katsuhiko Tsukamoto, Yusuke Okuno, Daiei Kojima, Michihiro Kono, Yasushi Suga, Masashi Akiyama
Journal of dermatological science Vol. 88 ( 1 ) page: 144 - 146 2017.10
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Phosphorylated signal transducer and activator of transcription 3 in the epidermis in adult-onset Still's disease. Reviewed International journal
Takuya Takeichi, Naoki Watanabe, Yoshinao Muro, Shiho Teshigawara, Motoki Sato, Nobutaro Ban, Masashi Akiyama
The Journal of dermatology Vol. 44 ( 10 ) page: 1172 - 1175 2017.10
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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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Abscopal Effect of Local Irradiation Treatment for Diffuse Large B-cell Lymphoma. Reviewed International journal
Yuri Hidaka, Takuya Takeichi, Yuichi Ishikawa, Mariko Kawamura, Masashi Akiyama
Acta dermato-venereologica Vol. 97 ( 9 ) page: 1140 - 1141 2017.10
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Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis with a homozygous deletion mutation in SDR9C7. Reviewed
Takeichi T, Nomura T, Takama H, Kono M, Sugiura K, Watanabe D, Shimizu H, Simpson MA, McGrath JA, Akiyama M.
Br J Dermatol. Vol. 177 ( 3 ) page: e62-e64 2017.9
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A Child with Epidermolytic Ichthyosis from a Parent with Epidermolytic Nevus: Risk Evaluation of Transmission from Mosaic to Germline. Reviewed International journal
Michihiro Kono, Yasushi Suga, Tomohiro Akashi, Yasutomo Ito, Takuya Takeichi, Yoshinao Muro, Masashi Akiyama
The Journal of investigative dermatology Vol. 137 ( 9 ) page: 2024 - 2026 2017.9
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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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T. Takeichi, K. Tanahashi, T. Taki, M. Kono, K. Sugiura, M. Akiyama
BRITISH JOURNAL OF DERMATOLOGY Vol. 177 ( 1 ) page: 290 - 292 2017.7
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A case of lamellar ichthyosis due to a novel TGM1 mutation associated with Parkinson's disease. Reviewed International journal
Runa Morita-Adachi, Takuya Takeichi, Yusuke Okuno, Shinsuke Kataoka, Shimpei Hoshino, Masashi Akiyama
European journal of dermatology : EJD Vol. 27 ( 4 ) page: 438 - 439 2017.7
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Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation
T. Taki, T. Takeichi, K. Sugiura, M. Akiyama
JOURNAL OF INVESTIGATIVE DERMATOLOGY Vol. 137 ( 5 ) page: S151 - S151 2017.5
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Congenital Ichthyosis and Recurrent Eczema Associated with a Novel ALOXE3 Mutation. Reviewed International journal
Takuya Takeichi, Yusuke Okuno, Chiyo Saito, Daiei Kojima, Michihiro Kono, Akimichi Morita, Kazumitsu Sugiura, Masashi Akiyama
Acta dermato-venereologica Vol. 97 ( 4 ) page: 532 - 533 2017.4
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M. Kono, K. Fukai, N. Shimizu, J. Nagao, T. Takeichi, D. Tsuruta, K. Sugiura, M. Akiyama
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY Vol. 31 ( 3 ) page: E175 - E176 2017.3
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Successful treatment of a cutaneous ulcer due to cholesterol crystal embolization with topical basic fibroblast growth factor. Reviewed International journal
Takuya Takeichi, Masashi Akiyama
European journal of dermatology : EJD Vol. 27 ( 2 ) page: 182 - 183 2017.3
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Striate Palmoplantar Keratoderma Showing Transgrediens in a Patient Harbouring Heterozygous Nonsense Mutations in Both DSG1 and SERPINB7. Reviewed International journal
Ryo Fukaura, Takuya Takeichi, Yusuke Okuno, Daiei Kojima, Michihiro Kono, Kazumitsu Sugiura, Yasushi Suga, Masashi Akiyama
Acta dermato-venereologica Vol. 97 ( 3 ) page: 399 - 401 2017.3
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Large intragenic deletion in DSTYK underlies autosomal-recessive complicated spastic paraparesis, SPG23. Reviewed
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.
Am J Hum Genet. Vol. 100 ( 2 ) page: 364-370 2017.2
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Syndromic inherited poikiloderma due to a de novo mutation in FAM111B Reviewed
T. Takeichi, A. Nanda, H. -S. Yang, C. -K. Hsu, J. Y. -Y. Lee, H. Al-Ajmi, M. Akiyama, M. A. Simpson, J. A. McGrath
BRITISH JOURNAL OF DERMATOLOGY Vol. 176 ( 2 ) page: 534 - 536 2017.2
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Ripple-pattern lichen amyloidosis in a case of ichthyosis vulgaris with a novel FLG mutation Reviewed
M. Kono, K. Nishida, T. Takeichi, K. Sugiura, M. Akiyama
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY Vol. 31 ( 2 ) page: E130 - E132 2017.2
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Recurrent Cellulitis Caused by Helicobacter cinaedi in a Patient with X-linked Agammaglobulinaemia. Reviewed International journal
Masayo Sugimoto, Takuya Takeichi, Hideki Muramatsu, Daiei Kojima, Yukari Osada, Michihiro Kono, Seiji Kojima, Masashi Akiyama
Acta dermato-venereologica Vol. 97 ( 2 ) page: 277 - 278 2017.2