نتایج جستجو برای: col6a2
تعداد نتایج: 61 فیلتر نتایج به سال:
OBJECTIVE Ullrich congenital muscular dystrophy (UCMD) corresponds to the severe end of the clinical spectrum of neuromuscular disorders caused by mutations in the genes encoding collagen VI (COL VI). We studied four unrelated families with six affected children that had typical UCMD with dominant and recessive inheritance. MATERIALS & METHODS Four unrelated Iranian families with six affected...
Mutations in the three collagen VI genes COL6A1, COL6A2 and COL6A3 cause Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD). UCMD, a severe disorder characterized by congenital muscle weakness, proximal joint contractures and marked distal joint hyperextensibility, has been considered a recessive condition, and homozygous or compound heterozygous mutations have been defined in CO...
دیستروفی عضلانی اولریچ انتهای طیف بیماریهای نوروماسکولار است که توسط موتاسیون هایی که ژنهای کلاژن 6 را کد گذاری می کنند، شناخته می شود. این بیماری با سفت شدگی مفاصل پروگزیمال، ضعف عضلانی و شل شدگی مفاصل دیستال مشخص می شود . تاکنون نحوه وراثت بیماری اتوزوم مغلوب و هتروزیگوت مرکب در ژنهای col6a3, col6a2, col6a1 تصور می شد ولی به تازگی گزارش های حذف شدگی های هتروزیگوت رو به افزایش است. ما 4 خانوا...
A significant current challenge in human genetics is the identification of interacting genetic loci mediating complex polygenic disorders. One of the best characterized polygenic diseases is Down syndrome (DS), which results from an extra copy of part or all of chromosome 21. A short interval near the distal tip of chromosome 21 contributes to congenital heart defects (CHD), and a variety of in...
Ullrich syndrome is a recessive congenital muscular dystrophy affecting connective tissue and muscle. The molecular basis is unknown. Reverse transcription-PCR amplification performed on RNA extracted from fibroblasts or muscle of three Ullrich patients followed by heteroduplex analysis displayed heteroduplexes in one of the three genes coding for collagen type VI (COL6). In patient A, we detec...
Non-steroidal anti-inflammatory drugs (NSAIDs) have shown potential as chemopreventive agents against cancer formation, especially colorectal cancers. However, the mechanisms by which these drugs act are not fully understood. In this study, Apc(Min/+) mice, a genetic model of human familial adenomatous polyposis, were treated with sulindac, and these mice demonstrated tumor reduction of >80%, c...
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