Papers - TAKEICHI Takuya
-
Syndromic inherited poikiloderma due to a de novo mutation in FAM111B Reviewed Open Access
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 Open Access
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