Epidermolysis Bullosa Simplex Ogna Revisited
نویسندگان
چکیده
منابع مشابه
Epidermolysis Bullosa Simplex
The EBS subtype can be defined as EBS with blisters within epidermal basal keratinocytes or above, and it is distinguished from other subtypes whose levels of blister formation are deeper (JEB and DEB) or variable (KS). Mutations in several genes have been identified as being responsible for EBS phenotypes. The clinical manifestations of EBS vary greatly depending on the causative genes. Some E...
متن کاملA Drosophila model of Epidermolysis Bullosa Simplex
The blistering skin disorder epidermolysis bullosa simplex (EBS) results from dominant mutations in keratin 5 (K5) or keratin 14 (K14) genes, encoding the intermediate filament (IF) network of basal epidermal keratinocytes. The mechanisms governing keratin network formation and collapse due to EBS mutations remain incompletely understood. Drosophila lacks cytoplasmic IFs, providing a 'null' env...
متن کاملEpidermolysis bullosa simplex: a paradigm for disorders of tissue fragility.
Epidermolysis bullosa (EB) simplex is a rare genetic condition typified by superficial bullous lesions that result from frictional trauma to the skin. Most cases are due to dominantly acting mutations in either keratin 14 (K14) or K5, the type I and II intermediate filament (IF) proteins tasked with forming a pancytoplasmic network of 10-nm filaments in basal keratinocytes of the epidermis and ...
متن کاملK14 mRNA reprogramming for dominant epidermolysis bullosa simplex.
The major challenge to a successful gene therapy of autosomal dominant genetic diseases is a highly efficient and specific knock-down or repair of the disease-causing allele. In epidermolysis bullosa simplex-type Dowling-Meara (EBS-DM), a single amino acid exchange in exon 1 of the keratin 14 gene (K14) triggers a severe skin phenotype, characterized by blistering of the skin and mucous membran...
متن کاملEpidermolysis bullosa simplex in Israel: clinical and genetic features.
BACKGROUND Epidermolysis bullosa simplex (EBS) is the most common form of epidermolysis bullosa. The disease is characterized by intraepidermal blistering due in most cases to mutations in cytokeratin genes 5 (K5) or 14 (K14). Extensive studies in the United States and Europe have shown that EBS is almost always inherited in an autosomal dominant fashion. OBJECTIVE To assess the possibility t...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2013
ISSN: 0022-202X
DOI: 10.1038/jid.2012.248