کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5685049 1597929 2017 21 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Osteogenesis imperfecta: new genes reveal novel mechanisms in bone dysplasia
کلمات کلیدی
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی پزشکی و دندانپزشکی (عمومی)
پیش نمایش صفحه اول مقاله
Osteogenesis imperfecta: new genes reveal novel mechanisms in bone dysplasia
چکیده انگلیسی
Osteogenesis imperfecta (OI) is a skeletal dysplasia characterized by fragile bones and short stature and known for its clinical and genetic heterogeneity which is now understood as a collagen-related disorder. During the last decade, research has made remarkable progress in identifying new OI-causing genes and beginning to understand the intertwined molecular and biochemical mechanisms of their gene products. Most cases of OI have dominant inheritance. Each new gene for recessive OI, and a recently identified gene for X-linked OI, has shed new light on its (often previously unsuspected) function in bone biology. Here, we summarize the literature that has contributed to our current understanding of the pathogenesis of OI
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Translational Research - Volume 181, March 2017, Pages 27-48
نویسندگان
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