Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy.
about
Cloning of a new mouse two-P domain channel subunit and a human homologue with a unique pore structurePrimary structure of a novel ABC transporter with a chromosomal localization on the band encoding the multidrug resistance-associated proteinThe essential role of the Walker A motifs of SUR1 in K-ATP channel activation by Mg-ADP and diazoxideCloning, characterization and tissue distribution of the rat ATP-binding cassette (ABC) transporter ABC2/ABCA2Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancyHyperinsulinemic Hypoglycemia - The Molecular MechanismsRole of ZAC1 in transient neonatal diabetes mellitus and glucose metabolismThe Diagnosis and Management of Hyperinsulinaemic HypoglycaemiaA novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channelsPermanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations.New modulatory alpha subunits for mammalian Shab K+ channelsToward understanding the assembly and structure of KATP channelsTissue-specific deletion of Foxa2 in pancreatic beta cells results in hyperinsulinemic hypoglycemiaExercise induced hypoglycaemic hyperinsulinismDysregulation 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 KCNJ11Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A geneEvidence for direct physical association between a K+ channel (Kir6.2) and an ATP-binding cassette protein (SUR1) which affects cellular distribution and kinetic behavior of an ATP-sensitive K+ channelFoxa2 (HNF3beta ) controls multiple genes implicated in metabolism-secretion coupling of glucose-induced insulin releasePancreatic endocrine and exocrine function in children following near-total pancreatectomy for diffuse congenital hyperinsulinismThe VGL-Chanome: A Protein Superfamily Specialized for Electrical Signaling and Ionic HomeostasisAltered functional properties of KATP channel conferred by a novel splice variant of SUR1.Clinical and molecular data from 61 Brazilian cases of Congenital Hyperinsulinemic Hypoglycemia.Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations.Genetics of neonatal hyperinsulinism.Hyperinsulinism of infancy: towards an understanding of unregulated insulin release. European Network for Research into Hyperinsulinism in Infancy.Factitious hyperinsulinemic hypoglycemia in infancy: diagnostic pitfalls.Ions, genes and insulin release: from basic science to clinical disease. Based on the 1998 R. D. Lawrence Lecture.Unraveling monogenic channelopathies and their implications for complex polygenic diseaseATP-sensitive potassium channelopathies: focus on insulin secretionHuman K(ATP) channelopathies: diseases of metabolic homeostasis.KATP channels gated by intracellular nucleotides and phospholipids.Molecular mechanisms of protein induced hyperinsulinaemic hypoglycaemia.Trapping the transition state of an ATP-binding cassette transporter: evidence for a concerted mechanism of maltose transport.Ion channel associated diseases: overview of molecular mechanismsThe molecular mechanisms and pharmacotherapy of ATP-sensitive potassium channel gene mutations underlying neonatal diabetesLinkage of type 2 diabetes mellitus and of age at onset to a genetic location on chromosome 10q in Mexican Americans.Uncoupling substrate transport from ATP hydrolysis in the Escherichia coli maltose transporter.Monogenic syndromes of abnormal glucose homeostasis: clinical review and relevance to the understanding of the pathology of insulin resistance and beta cell failure.
P2860
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P2860
Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy.
description
1995 nî lūn-bûn
@nan
1995 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年学术文章
@wuu
1995年学术文章
@zh-cn
1995年学术文章
@zh-hans
1995年学术文章
@zh-my
1995年学术文章
@zh-sg
1995年學術文章
@yue
name
Mutations in the sulfonylurea ...... nemic hypoglycemia of infancy.
@ast
Mutations in the sulfonylurea ...... nemic hypoglycemia of infancy.
@en
Mutations in the sulfonylurea ...... nemic hypoglycemia of infancy.
@nl
type
label
Mutations in the sulfonylurea ...... nemic hypoglycemia of infancy.
@ast
Mutations in the sulfonylurea ...... nemic hypoglycemia of infancy.
@en
Mutations in the sulfonylurea ...... nemic hypoglycemia of infancy.
@nl
prefLabel
Mutations in the sulfonylurea ...... nemic hypoglycemia of infancy.
@ast
Mutations in the sulfonylurea ...... nemic hypoglycemia of infancy.
@en
Mutations in the sulfonylurea ...... nemic hypoglycemia of infancy.
@nl
P2093
P356
P1433
P1476
Mutations in the sulfonylurea ...... nemic hypoglycemia of infancy.
@en
P2093
Aguilar-Bryan L
P304
P356
10.1126/SCIENCE.7716548
P407
P577
1995-04-01T00:00:00Z