Loss-of-Function Mutations in CAST Cause Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads-Reference-Cited by-同舟云学术

Loss-of-Function Mutations in CAST Cause Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads

Published:2015-03 Issue:3 Volume:96 Page:440-447
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Lin Zhimiao,Zhao Jiahui,Nitoiu Daniela,Scott Claire A.,Plagnol Vincent,Smith Frances J.D.,Wilson Neil J.,Cole Christian,Schwartz Mary E.,McLean W.H. Irwin,Wang Huijun,Feng Cheng,Duo Lina,Zhou Eray Yihui,Ren Yali,Dai Lanlan,Chen Yulan,Zhang Jianguo,Xu Xun,O’Toole Edel A.,Kelsell David P.,Yang Yong

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference35 articles.

1. Skin peeling syndrome in a Kurdish family;Hacham-Zadeh;Arch. Dermatol.,1985

2. A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome;Cassidy;Am. J. Hum. Genet.,2005

3. A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family;Kharfi;J. Invest. Dermatol.,2009

4. Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion;Blaydon;Am. J. Hum. Genet.,2011

5. Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A;Krunic;Pediatr. Dermatol.,2013

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