Papers - TAKEICHI Takuya
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
A newly revealed IL36RN mutation in sibling cases complements our IL36RN mutation statistics for generalized pustular psoriasis. Reviewed
Takeichi T, Togawa Y, Okuno Y, Taniguchi R, Kono M, Matsue H, Sugiura K, Akiyama M.
J Dermatol Sci. Vol. 85 ( 1 ) page： 58-60 2017.1
-
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
-
Germline NLRP1 mutations cause skin inflammatory and cancer susceptibility syndromes via inflammasome activation Reviewed
Vol. 167 ( 1 ) page： 187-202 2016.9
-
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
-
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
-
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