نتایج جستجو برای: d76n
تعداد نتایج: 45 فیلتر نتایج به سال:
The first genetic variant of β2 -microglobulin (b2M) associated with a familial form of systemic amyloidosis has been recently described. The mutated protein, carrying a substitution of Asp at position 76 with an Asn (D76N b2M), exhibits a strongly enhanced amyloidogenic tendency to aggregate with respect to the wild-type protein. In this study, we characterized the D76N b2M aggregation path an...
Type 2 diabetes mellitus is a common disabling disease with onset in middle-aged individuals, caused by an imbalance between insulin production and action. Genetic studies point to major genetic components, but, with the exception of maturity-onset diabetes of the young (MODY), specific diabetes susceptibility genes remain to be identified. Recent studies showed that a dominant negative mutatio...
fects. Co-expression of KCNE1 (D76N) or KCNE1 (D85N) increases the susceptibility to clarithromycin, a macrolide antibiotic, lowering the IC50 to 1/3–2/3, whereas that of KCNE1 (A8V) decreases the susceptibility, doubling the IC50.1 Coexpression of KCNE1 (A8V), KCNE1 (D76N), or KCNE1 (D85N) increases the susceptibility to cisapride, a gastric prokinetic drug, lowering the IC50 to 1/2.1 Co-expre...
مطالعات متعدد بر روی گروه های قومی مختلف، ارتباط قوی بین دیابت ملیتوس نوع 2 (t2dm) و تغییرات ژن های فاکتور های رونویسی tcf7l2 و pdx-1 را گزارش کرده اند. tcf7l2 یکی از اجزای کلیدی مسیر پیام رسانی wnt است که نقش مهمی در تنظیم بیـان ژن پروگلوکاگن و ترشح محصول این ژن (glp-1) توسط سلول های l درون ریز روده باریک دارد. glp-1 یک هورمون اینکرتین مهم است و باعث آزاد سازی انسولین از سلول های بتای پانکراس ...
human Ether-à-go-go-Related Gene (hERG) encodes the pore-forming subunit of cardiac rapid delayed rectifier K(+) current (I Kr) channels, which play important roles in ventricular repolarization, in protecting the myocardium from unwanted premature stimuli, and in drug-induced Long QT Syndrome (LQTS). KCNE1, a small transmembrane protein, can coassemble with hERG. However, it is not known how K...
Dialysis-related amyloidosis (DRA) is characterized by accumulation of amyloid β2-microglobulin (β2m) in the interstitial matrix. Matrix substances such as heparin have reportedly been strongly implicated in the pathogenesis of dialysis-related amyloidosis. In clinical setting of hemodialysis, two types of heparin, i.e., high and low molecular heparin (H.M.H. and L.M.H.) have been routinely use...
dialysis-related amyloidosis (dra) is characterized by accumulation of amyloid β2-microglobulin (β2m) in the interstitial matrix. matrix substances such as heparin have reportedly been strongly implicated in the pathogenesis of dialysis-related amyloidosis. in clinical setting of hemodialysis, two types of heparin, i.e., high and low molecular heparin (h.m.h. and l.m.h.) have been routinely use...
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