Loss-of-Function Mutations in CAST Cause Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads
- 1 March 2015
- journal article
- Published by Elsevier in The American Journal of Human Genetics
- Vol. 96 (3) , 440-447
Abstract
No abstract availableKeywords
Funding Information
- National Natural Science Foundation of China (81201220, 81271744)
- Wellcome Trust (098439/Z/12/Z)
- Beijing Higher Education Young Elite Teacher Project (YETP0069)
- China National Funds for Distinguished Young Scientists (81425020)
This publication has 35 references indexed in Scilit:
- Acral Peeling Skin Syndrome Resulting from a Homozygous Nonsense Mutation in the CSTA Gene Encoding Cystatin APediatric Dermatology, 2013
- Calpain Activity Is Essential in Skin Wound Healing and Contributes to Scar FormationPLOS ONE, 2012
- Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted SyndromeThe American Journal of Human Genetics, 2012
- Mutations in CSTA, Encoding Cystatin A, Underlie Exfoliative Ichthyosis and Reveal a Role for This Protease Inhibitor in Cell-Cell AdhesionThe American Journal of Human Genetics, 2011
- Loss of Corneodesmosin Leads to Severe Skin Barrier Defect, Pruritus, and Atopy: Unraveling the Peeling Skin DiseaseThe American Journal of Human Genetics, 2010
- Regulation of Adhesion Dynamics by Calpain-mediated Proteolysis of Focal Adhesion Kinase (FAK)Journal of Biological Chemistry, 2010
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithmNature Protocols, 2009
- Comprehensive behavioral phenotyping of calpastatin-knockout miceMolecular Brain, 2008
- Overexpression of calpastatin inhibits L8 myoblast fusionBiochemical and Biophysical Research Communications, 2005
- Antidesmosomal monoclonal antibody in the diagnosis of intracranial tumoursThe Journal of Pathology, 1987