نتایج جستجو برای: collgen vi genes
تعداد نتایج: 468129 فیلتر نتایج به سال:
objective(s):to clarify the protective effects of cichorium glandulosum (cg) extracts on thioacetamide (taa)-induced rat hepatic fibrosis. materials and methods: the dry roots of cg were smashed and percolated with 95% ethanol, and the residual was prepared into petroleum ether extract (cg-v), ethyl acetate extract (cg-vi) and n-butyl alcohol extract (cg-vii). thirty-six wistar rats were random...
هدف این تحقیق، تهیه یک پلیمر قالب یونیجدید بعنوان جاذب برای استخراج گزینشی یونهای مولیبدن است. پلیمر قالب یونی مولیبدن(vi) توسط کوپلیمریزاسیون حرارتی متاکریلیک اسید (maa) به عنوان مونومر، اتیلن گلیکول دی متاکریلات(egdma)به عنوان مونومر پیوند دهنده عرضی و آزوبیس-ایزو بوتیرو نیتریل(aibn) به عنوان آغازگر با روش پلیمریزاسیون توده ای سنتز گردید. برای تشکیل پلیمر قالب یونی مولیبدن(vi)، ابتدا یک زوج ی...
The expression of cauliflower mosaic virus proteins was examined in crown gall tissue transformed by integration of virus genome DNA into plant host chromosomes by Agrobacterium tumefaciens-mediated transfer. Galls upon plants of species that support infection by virus particles as well as upon non-host plants were analysed by immunoblotting using antisera specific to proteins encoded by viral ...
A 21-year-old woman presented with clinically classic signs of Ullrich congenital muscular dystrophy (figure). Genetic testing of collagen VI genes revealed a homozygous mutation c.2329T.C, p.Cys777Arg in the COL6A2 gene, consistent with the clinical diagnosis. Collagen type VI–related disorders represent a spectrum of overlapping phenotypes: Bethlem myopathy at the milder end, and Ullrich cong...
Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD), two conditions which were previously believed to be completely separate entities. BM is a relatively mild dominantly inherited disorder characterised by proximal weakness and distal joint contractures. UCMD was originally described as an autosoma...
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Osteogenesis imperfecta (OI) is a spectrum of genetic disorders characterized by bone fragility. It is caused by dominant mutations affecting the synthesis and/or structure of type I procollagen or by recessively inherited mutations in genes responsible for the posttranslational processing/trafficking of type I procollagen. Recessive OI type VI is unique among OI types in that it is characteriz...
A 32-year-old woman and a 50-year-old man with clinically typical Bethlem myopathy developed seemingly spontaneous keloids on their shoulder region (figure). The patients did not recall any significant trauma to the skin of this region. Bethlem myopathy (MIM #158810) is caused by dominant and recessive mutations in the collagen VI genes: COL6A1, COL6A2, and COL6A3. Skin manifestations include h...
how to cite this article: bozorgmehr b, kariminejad a, nafissi sh, jebelli b, andoni u, gartioux c, ledeuil c, allamand y, richard p, kariminejad mh. ullrich congenital muscular dystrophy (ucmd):clinical and genetic correlations. iran j child neurol. 2013 summer; 7(3): 15-22. obj ective: ullrich congenital muscular dystrophy (ucmd) corresponds to the severe end of the clinical spectrum of neu...
In this research, selective adsorption of U(VI) in aqueous solutionsin the presence of various lanthanide ions by using U(VI)-imprinted cryogel polymer was conducted. For this purpose, the prepared pHEMA-(MAH)3-U(VI) cryogel polymer by free radical polymerization method. U(VI) was desorbed with 5.0 mol/L HNO3 and thus U(VI)-imprinted were created onto p-HEMA-(...
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