ArticleProceedings of the National Academy of Sciences of the United States of America1993
The genetic basis of Weber-Cockayne epidermolysis bullosa simplex.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 115 citations in OpenAlex.
- Article
- In vitro analysis of photosensitizer accumulation for assessment of applicability of fluorescence diagnosis of squamous cell carcinoma of epidermolysis bullosa patients.BioMed research international · 2013Article
- Defining keratin protein function in skin epithelia: epidermolysis bullosa simplex and its aftermath.The Journal of investigative dermatology · 2012Review
- New common variants affecting susceptibility to basal cell carcinoma.Nature genetics · 2009Article
- Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility.The Journal of clinical investigation · 2009Review
- Identifying the role of specific motifs in the lens fiber cell specific intermediate filament phakosin.Investigative ophthalmology & visual science · 2007Article
- Diseases of epidermal keratins and their linker proteins.Experimental cell research · 2007Review
- Disorders of keratinisation: from rare to common genetic diseases of skin and other epithelial tissues.The Ulster medical journal · 2007Review
- Characterization of structural changes in vimentin bearing an epidermolysis bullosa simplex-like mutation using site-directed spin labeling and electron paramagnetic resonance.The Journal of biological chemistry · 2005Article
- Genetic disorders of palm skin and nail.Journal of anatomy · 2003Review
- Adenoviral vector-mediated insulin gene transfer in the mouse pancreas corrects streptozotocin-induced hyperglycemia.Gene therapy · 2001Article
- Analysis of SM22alpha-deficient mice reveals unanticipated insights into smooth muscle cell differentiation and function.Molecular and cellular biology · 2001Article
- Head and/or CaaX domain deletions of lamin proteins disrupt preformed lamin A and C but not lamin B structure in mammalian cells.Molecular biology of the cell · 2000Article
- Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy.American journal of human genetics · 1997Article
- Keith R. Porter Lecture, 1996. Of mice and men: genetic disorders of the cytoskeleton.Molecular biology of the cell · 1997Review
- The genetic basis of epidermolysis bullosa simplex with mottled pigmentation.Proceedings of the National Academy of Sciences of the United States of America · 1996Article
- Susceptibility to hepatotoxicity in transgenic mice that express a dominant-negative human keratin 18 mutant.The Journal of clinical investigation · 1996Article
- The molecular basis for inherited bullous diseases.Journal of molecular medicine (Berlin, Germany) · 1996Review
- Keratin 14 gene point mutation in the Köbner and Dowling-Meara types of epidermolysis bullosa simplex as detected by the PASA method.Archives of dermatological research · 1995Article
- Expression of an epidermal keratin protein in liver of transgenic mice causes structural and functional abnormalities.The Journal of cell biology · 1995Article
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Authors and funding
4 authors at 1 institution in 1 country.
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Abstract
Epidermolysis bullosa simplex (EBS) is a group of autosomal dominant skin diseases characterized by blistering, due to mechanical-stress-induced degeneration of basal epidermal cells. Recently, it was discovered that the more severe types, Dowling-Meara and Koebner, are genetic disorders of the basal epidermal keratins, keratin 5 (K5) and keratin 14 (K14). Here, we show that the mildest type of EBS, Weber-Cockayne, is also a disorder of these keratins. Affected members of two unrelated families with Weber-Cockayne EBS had a T-->G point mutation in the second base position of codon 161 of one of two K5 alleles, leading to an Ile-->Ser mutation. This mutation was not present in unaffected members or in 156 alleles from normal individuals. Linkage analyses mapped the defect to the type II keratin gene cluster on chromosome 12q11-q13 (peak logarithm of odds score at theta = 0 of 3.0), providing strong additional evidence that this mutation is responsible for the Weber-Cockayne EBS phenotype. Conserved among type II keratins, Ile-161 is in the nonhelical head domain of K5, a region previously shown to be important for 10-nm filament assembly. The mutation generates a potential substrate site for protein kinase C, which could influence intermediate filament architecture, perhaps leading to the intrafilament association seen ultrastructurally in patients with the mutation.
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