TGM5 Mutations Impact Epidermal Differentiation in Acral Peeling Skin Syndrome-Reference-Cited by-同舟云学术

TGM5 Mutations Impact Epidermal Differentiation in Acral Peeling Skin Syndrome

Published:2012-10 Issue:10 Volume:132 Page:2422-2429
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Pigors Manuela,Kiritsi Dimitra,Cobzaru Cristina,Schwieger-Briel Agnes,Suárez Jose,Faletra Flavio,Aho Heikki,Mäkelä Leeni,Kern Johannes S.,Bruckner-Tuderman Leena,Has Cristina

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference28 articles.

1. Peeling skin syndrome: genetic defects in late terminal differentiation of the epidermis;Bowden;J Invest Dermatol,2011

2. Expression of transglutaminase 5 in normal and pathologic human epidermis;Candi;J Invest Dermatol,2002

3. Transglutaminase 5 cross-links loricrin, involucrin, and small proline-rich proteins in vitro;Candi;J Biol Chem,2001

4. The cornified envelope: a model of cell death in the skin;Candi;Nat Rev Mol Cell Biol,2005

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

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