کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5904881 1569488 2014 12 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Genetic basis of congenital cardiovascular malformations
ترجمه فارسی عنوان
اساس ژنتیک مادرزادی قلبی و عروقی مادرزادی
کلمات کلیدی
نقص مادرزادی قلب، توسعه قلب، اختلالات ژن کروموزومی و تک ژنی، اختلال ژنومی،
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
چکیده انگلیسی

Cardiovascular malformations are a singularly important class of birth defects and due to dramatic improvements in medical and surgical care, there are now large numbers of adult survivors. The etiologies are complex, but there is strong evidence that genetic factors play a crucial role. Over the last 15 years there has been enormous progress in the discovery of causative genes for syndromic heart malformations and in rare families with Mendelian forms. The rapid characterization of genomic disorders as major contributors to congenital heart defects is also notable. The genes identified encode many transcription factors, chromatin regulators, growth factors and signal transduction proteins- all unified by their required roles in normal cardiac development. Genome-wide sequencing of the coding regions promises to elucidate genetic causation in several disorders affecting cardiac development. Such comprehensive studies evaluating both common and rare variants would be essential in characterizing gene-gene interactions, as well as in understanding the gene-environment interactions that increase susceptibility to congenital heart defects.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 57, Issue 8, August 2014, Pages 402-413
نویسندگان
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