نتایج جستجو برای: kcnj11
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خلاصه: در این مطالعه ژن kcnj11 از 35 نفر مبتلا به دیابت نوع 1 با سن کمتر از 6 ماه که در طول مدت 3 سال تشخیص داده شده اند را توصیف می کنیم. شش نوع جهش هتروزیگوت مختلف missense در 7 نفر از 35 فرد مبتلا(20%( یافت شد. یک جهش novel در w68r (no locus, gu170814; 2009) در kir6.2 ، زیر واحد های تشکیل دهنده از کانال های katp از β پانکراس، سلول تشخیص داده شد. نتایج ما نشان می دهد که فعال شدن جهش در kcnj...
BACKGROUND Genome-wide association studies (GWAS) have reported that the polymorphism rs5219 of the potassium inwardly rectifying channel, subfamily J, member 11 (KCNJ11) is associated with type 2 diabetes mellitus (T2DM). Given that diabetic retinopathy (DR) is one of the most common microvascular complications of T2DM, GWAS have identified a number of potential susceptibility genes for DR. Ho...
In contrast to the Mendelian inheritance model, parental alleles can contribute unequally to gene expression, which may result in phenotypic variance among individuals and bias in the predicted additive effect of molecular markers associated with production traits. Given the need to understand the effects of allelic variation and parent-of-origin effects on the expression of genes with a commer...
A ctivating mutations in the KCNJ11 gene, which code for the ATPsensitive K channel subunit Kir6.2, are the most common cause of permanent neonatal diabetes. Recently, a switch from insulin treatment to oral sulfonylurea has been proposed if genetic testing reveals sulfonylurea-sensitive KCNJ11 mutations (1). Until now, hurdles for early treatment were 1) the time until the mutation analysis is...
Abstract We screened the KCNJ11 gene from 35 individuals clinically diagnosed with type 1 diabetes mellitus under the age of 6 months in 3 years duration. Six different heterozygous missense mutations were found in 7 of the 35 probands, which accounted for 20% of all individuals. A novel mutation W68R (No Locus, GU170814; 2009) was identified in the kir6.2, the pore-forming subunit of the KATP ...
Themost commonmonogenic cause of neonatal diabetes is mutation inKCNJ11, which encodes a potassium channel in pancreatic beta cells. Some mutations in this gene, including Q52R, have been described in association with neurological deficits, but never with hepatic involvement. We report the second case of neonatal diabetes in a patient with a KCNJ11/Q52R mutation. This patient’s clinical course ...
مقدمه: جهش g به a در ژن kcnj11، زیرواحد سازنده منفذ کانال پتاسیمی حساس به atp، باعث تبدیل اسیدآمینه گلوتامات(e) به لیزین در کدون شماره 23 می شود. این جانشینی موجب افزایش خطر ابتلا به دیابت می شود، اما نقش آن در بیماری های قلبی عروقی همچنان ناشناخته است. در این مطالعه فرضیه تاثیر این پلی مورفیسم در ابتلا به بیماری های قلبی عروقی مورد بررسی قرار گرفته است. روش بررسی: در این مطالعه پلی مورفیسم e23...
conclusions congenital hyperinsulinism can have different inheritance pattern. autosomal recessive inheritance is more common but less frequently autosomal dominant inheritance can be seen. it appears that mutations in abcc8 gene can show both autosomal recessive and autosomal dominant inheritance of the disease. pcr followed by sanger sequencing proved to be an efficient method for mutation de...
Hyperinsulinemic hypoglycemia (HH) is a consequence of unregulated insulin secretion by pancreatic b-cells. Congenital HH is caused by mutations in genes involved in regulation of insulin secretion (ABCC8, KCNJ11, GLUD1, CGK, HADH, SLC16A1, HNF4A and UCP2). Severe forms of congenital HH are caused by inactivating mutations in ABCC8 and KCNJ11, which encode the two components of the pancreatic b...
BACKGROUND Accurate molecular diagnosis of monogenic non-autoimmune neonatal diabetes mellitus (NDM) is critical for patient care, as patients carrying a mutation in KCNJ11 or ABCC8 can be treated by oral sulfonylurea drugs instead of insulin therapy. This diagnosis is currently based on Sanger sequencing of at least 42 PCR fragments from the KCNJ11, ABCC8, and INS genes. Here, we assessed the ...
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