Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews.
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Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selectionHyperinsulinemic Hypoglycemia - The Molecular MechanismsThe Diagnosis and Management of Hyperinsulinaemic HypoglycaemiaA novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channelsClinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations.ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemiaTissue-specific deletion of Foxa2 in pancreatic beta cells results in hyperinsulinemic hypoglycemiaDysregulation of insulin secretion in children with congenital hyperinsulinism due to sulfonylurea receptor mutationsUnbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11Chronic antidiabetic sulfonylureas in vivo: reversible effects on mouse pancreatic beta-cellsFoxa2 (HNF3beta ) controls multiple genes implicated in metabolism-secretion coupling of glucose-induced insulin releaseKv2.1 ablation alters glucose-induced islet electrical activity, enhancing insulin secretionBuffering mechanisms in aging: a systems approach toward uncovering the genetic component of aging.Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretionGenetics of neonatal hyperinsulinism.Hyperinsulinism of infancy: towards an understanding of unregulated insulin release. European Network for Research into Hyperinsulinism in Infancy.Calcium-stimulated insulin secretion in diffuse and focal forms of congenital hyperinsulinism.Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.Linkage of type 2 diabetes mellitus and of age at onset to a genetic location on chromosome 10q in Mexican Americans.Genetic heterogeneity in familial hyperinsulinism.Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy.K(ATP) channels and insulin secretion disorders.Pharmacodynamic considerations with recombinant human insulin-like growth factor-I in children.Contig maps and genomic sequencing identify candidate genes in the usher 1C locus.Diazoxide-unresponsive congenital hyperinsulinism in children with dominant mutations of the β-cell sulfonylurea receptor SUR1Hyperinsulinism in infancy: from basic science to clinical disease.Role of Derlin-1 protein in proteostasis regulation of ATP-sensitive potassium channels.Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome.Genotype and phenotype correlations in 417 children with congenital hyperinsulinismMolecular mechanisms of neonatal hyperinsulinism.Heterogeneity in phenotype of usher-congenital hyperinsulinism syndrome: hearing loss, retinitis pigmentosa, and hyperinsulinemic hypoglycemia ranging from severe to mild with conversion to diabetes.Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism DisordersCarrier screening by next-generation sequencing: health benefits and cost effectiveness.Extremes of clinical and enzymatic phenotypes in children with hyperinsulinism caused by glucokinase activating mutations.Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1.Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy.Therapy for persistent hyperinsulinemic hypoglycemia of infancy. Understanding the responsiveness of beta cells to diazoxide and somatostatin.Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia.
P2860
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P2860
Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews.
description
1996 nî lūn-bûn
@nan
1996 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Mutations in the sulonylurea r ...... rinsulinism in Ashkenazi Jews.
@ast
Mutations in the sulonylurea r ...... rinsulinism in Ashkenazi Jews.
@en
Mutations in the sulonylurea r ...... rinsulinism in Ashkenazi Jews.
@nl
type
label
Mutations in the sulonylurea r ...... rinsulinism in Ashkenazi Jews.
@ast
Mutations in the sulonylurea r ...... rinsulinism in Ashkenazi Jews.
@en
Mutations in the sulonylurea r ...... rinsulinism in Ashkenazi Jews.
@nl
prefLabel
Mutations in the sulonylurea r ...... rinsulinism in Ashkenazi Jews.
@ast
Mutations in the sulonylurea r ...... rinsulinism in Ashkenazi Jews.
@en
Mutations in the sulonylurea r ...... rinsulinism in Ashkenazi Jews.
@nl
P2093
P356
P1476
Mutations in the sulonylurea r ...... erinsulinism in Ashkenazi Jews
@en
P2093
A Nestorowicz
B A Wilson
J P Clement
K P Schoor
L Aguilar-Bryan
M A Permutt
P S Thornton
P304
P356
10.1093/HMG/5.11.1813
P577
1996-11-01T00:00:00Z