نتایج جستجو برای: kcnj11
تعداد نتایج: 484 فیلتر نتایج به سال:
AIMS/INTRODUCTION Previous studies have suggested a possible relationship between type 2 diabetes mellitus susceptibility loci and diabetic complications. The present study aimed to investigate the associations between type 2 diabetes mellitus loci with peripheral nerve function in a Chinese population with type 2 diabetes mellitus. MATERIALS AND METHODS A total of 1,900 type 2 diabetes melli...
OBJECTIVE In the pancreatic beta-cell, ATP-sensitive K(+) (K(ATP)) channels couple metabolism with excitability and consist of Kir6.2 and SUR1 subunits encoded by KCNJ11 and ABCC8, respectively. Sulfonylureas, which inhibit the K(ATP) channel, are used to treat type 2 diabetes. Rare activating mutations cause neonatal diabetes, whereas the common variants, E23K in KCNJ11 and S1369A in ABCC8, ar...
The ATP-sensitive K+ (KATP) channel controls blood glucose levels by coupling metabolism to insulin secretion in pancreatic β-cells. E23K, a common polymorphism the pore-forming KATP subunit (KCNJ11) gene, has been linked increased risk of type 2 diabetes. Understanding risk-allele-specific pathogenesis potential improve personalized diabetes treatment, but underlying mechanism remained elusive...
SUMMARY We present a pipeline named BIR (Blast, Identify and Realign) developed for phylogenomic analyses. BIR is intended for the identification of gene sequences applicable for phylogenomic inference. The pipeline allows users to apply their own manually curated sequence alignments (seed) in search for homologous genes in sequence databases and available genomes. BIR automatically adds the id...
The field of complex disease genetics has witnessed rapid progress over the past few months. The advent of genome-wide association scans (GWAS) has mediated a change in gear and the Type 2 diabetes (T2D) research community has set an unprecedented record with five genome-wide association studies published since February 2007 [1–6], increasing the number of confirmed Type 2 diabetes susceptibili...
Neonatal diabetes mellitus (NDM) is the term commonly used to describe diabetes with onset before 6 months-of-age. It occurs in approximately one out of every 100,000-300,000 live births. Although this term encompasses diabetes of any etiology, it is recognized that NDM diagnosed before 6 months-of-age is most often monogenic in nature. Clinically, NDM subgroups include transient (TNDM) and per...
ATP-sensitive potassium (K(ATP)) channels are widely distributed in various tissues and cell types where they couple cell metabolism to cell excitability. Gain of channel function (GOF) mutations in the genes encoding Kir6.2 (KCNJ11) or the associated regulatory ssulfonylurea receptor 1 subunit (ABCC8), cause developmental delay, epilepsy and neonatal diabetes (DEND) due to suppressed cell exci...
Congenital hyperinsulinism (CHI) is the major cause of persistent neonatal hypoglycemia. CHI most often occurs due to mutations in the ABCC8 (which encodes sulfonylurea receptor 1) or KCNJ11 (which encodes the potassium channel Kir6.2) gene, which result in a lack of functional KATP channels in pancreatic β cells. Diffuse forms of CHI (DiCHI), in which all β cells are abnormal, often require su...
BACKGROUND To investigate disease progression the first 12 months after diagnosis in children with type 1 diabetes negative (AAB negative) for pancreatic autoantibodies [islet cell autoantibodies(ICA), glutamic acid decarboxylase antibodies (GADA) and insulinoma-associated antigen-2 antibodies (IA-2A)]. Furthermore the study aimed at determining whether mutations in KCNJ11, ABCC8, HNF1A, HNF4A ...
BACKGROUND Recent advance in genetic studies added the confirmed susceptible loci for type 2 diabetes to eighteen. In this study, we attempt to analyze the independent and joint effect of variants from these loci on type 2 diabetes and clinical phenotypes related to glucose metabolism. METHODS/PRINCIPAL FINDINGS Twenty-one single nucleotide polymorphisms (SNPs) from fourteen loci were success...
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