Autosomal Recessive Epidermolysis Bullosa Simplex Due to Loss of BPAG1-e Expression
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Dermatology,Molecular Biology,Biochemistry
Reference10 articles.
1. Interaction of the bullous pemphigoid antigen 1 (BP230) and desmoplakin with intermediate filaments is mediated by distinct sequences within their COOH terminus;Fontao;Mol Cell Biol,2003
2. A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex;Groves;J Invest Dermatol,2010
3. Gene targeting of BPAG1, abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration;Guo;Cell,1995
4. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia;Joutel;Nature,1996
5. Analysis of the interactions between BP180, BP230, plectin and the integrin alpha6beta4 for hemidesmosome assembly;Koster;J Cell Sci,2003
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