کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2149550 1548746 2016 13 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Molecular genetics of the COL2A1-related disorders
ترجمه فارسی عنوان
ژنتیک مولکولی اختلالات مربوط به COL2A1
کلمات کلیدی
نوع تورنس؛ SPD، دیسپلازی spondyloperipheral؛ SEDC، spondyloepiphysea
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی تحقیقات سرطان
چکیده انگلیسی

Type II collagen, comprised of three identical alpha-1(II) chains, is the major collagen synthesized by chondrocytes, and is found in articular cartilage, vitreous humour, inner ear and nucleus pulposus. Mutations in the collagen type II alpha-1 gene (COL2A1) have been reported to be responsible for a series of abnormalities, known as type II collagenopathies. To date, 16 definite disorders, inherited in an autosomal dominant or recessive pattern, have been described to be associated with the COL2A1 mutations, and at least 405 mutations ranging from point mutations to complex rearrangements have been reported, though the underlying pathogenesis remains unclear. Significant clinical heterogeneity has been reported in COL2A1-associated type II collagenopathies. In this review, we highlight current knowledge of known mutations in the COL2A1 gene for these disorders, as well as genetic animal models related to the COL2A1 gene, which may help us understand the nature of complex phenotypes and underlying pathogenesis of these conditions.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Mutation Research/Reviews in Mutation Research - Volume 768, April–June 2016, Pages 1–13
نویسندگان
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