کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
9229694 1203322 2005 7 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Kindler surprise: mutations in a novel actin-associated protein cause Kindler syndrome
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی امراض پوستی
پیش نمایش صفحه اول مقاله
Kindler surprise: mutations in a novel actin-associated protein cause Kindler syndrome
چکیده انگلیسی
Kindler syndrome is an autosomal recessive genodermatosis characterized by acral blistering in neonates and diffuse, progressive poikiloderma in later life. Other clinical features include photosensitivity, premature skin ageing and severe periodontal disease. Two groups have recently shown that the molecular basis of Kindler syndrome is loss of a novel epidermal protein, kindlin-1, encoded by the gene KIND1. Two additional kindlin proteins, kindlin-2 and kindlin-3, have also been described. Kindlin-1 is considered to be a component in the linkage of the actin cytoskeleton to the extracellular matrix and as such is proposed to have both structural and cell-signalling functions. Kindler syndrome is therefore the first skin fragility syndrome due to disruption of the actin-extracellular matrix system.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Dermatological Science - Volume 38, Issue 3, June 2005, Pages 169-175
نویسندگان
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