EB simplex superficialis resulting from a mutation in the type VII collagen gene.
نویسندگان
چکیده
Amalia Martinez-Mir, Jianjun Liu, Derek Gordon, Madeline S Weiner, Wasim Ahmad, JoDavid Fine, Jurg Ott, T Conrad Gilliam and Angela M Christiano Department of Dermatology, Columbia University, New York, New York, U.S.A. Department of Genetics and Development, Columbia University, New York, New York, U.S.A. Columbia Genome Center, Columbia University, New York, New York, U.S.A. Laboratory of Statistical Genetics, Rockefeller University, New York, New York, U.S.A. Department of Dermatology, University of North Carolina, Chapel Hill, North Carolina, U.S.A.
منابع مشابه
A novel deletion and two recurrent substitutions on type VII collagen gene in seven Iranian patients with epidermolysis bullosa
Objective(s): Epidermolysis bullosa is one of the most important series of mechano-bullous heritable skin disorders which is categorized into four major types according to the layer that bullae forms within basement membrane zone. In dystrophic form of the disease, blisters are made in the sublamina densa zone, at the level of type VII collagen protein which produce anchoring fibrils. Type VII ...
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BACKGROUND Inherited epidermolysis bullosa (EB) is a group of skin diseases characterized by blistering of the skin and mucous membranes.There are four major types of EB (EB simplex, junctional EB, dystrophic EB and Kindler syndrome) caused by different gene mutations. Dystrophic EB is derived from mutations in the type VII collagen gene (COL7A1), encoding a protein which is the predominant com...
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Background: Coagulation Factor VII is a vitamin K-dependent serine protease which has a pivotal role in the initiation of the coagulation cascade. The congenital Factor VII deficiency is a recessive hemorrhagic disorder that occurs due to mutations of F7 gene. In the present study C91S (p.C91S) substitution was detected in a patient with FVII deficiency. This mutation has not b...
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Epidermolysis bullosa (EB) is a group of inherited blistering skin diseases that vary widely in their pathogenesis and severity. There are three main categories of EB: simplex, junctional, and dystrophic. This classification is based on the level of tissue separation within the basement membrane zone and this is attributed to abnormalities of individual or several anchoring proteins that form t...
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While inherited and acquired diseases have proven invaluable in increasing our understanding of the basement membrane zone (BMZ), the identification of the genes of various BMZ proteins and the development of advanced molecular techniques has allowed for the development of many new animal models, which present a great opportunity for increasing our knowledge of BMZ biology, the pathogenesis of ...
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ورودعنوان ژورنال:
- The Journal of investigative dermatology
دوره 118 3 شماره
صفحات -
تاریخ انتشار 2002