Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations.
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Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinismHyperinsulinemic Hypoglycemia - The Molecular MechanismsThe Diagnosis and Management of Hyperinsulinaemic HypoglycaemiaDiazoxide promotes oligodendrocyte precursor cell proliferation and myelinationSulfonylurea receptors regulate the channel pore in ATP-sensitive potassium channels via an intersubunit salt bridgePICMI: mapping point mutations on genomesClinical and molecular data from 61 Brazilian cases of Congenital Hyperinsulinemic Hypoglycemia.Characterization and functional restoration of a potassium channel Kir6.2 pore mutation identified in congenital hyperinsulinismCongenital hyperinsulinism: current status and future perspectives.The molecular mechanisms and pharmacotherapy of ATP-sensitive potassium channel gene mutations underlying neonatal diabetesNeonatal diabetes caused by mutations in sulfonylurea receptor 1: interplay between expression and Mg-nucleotide gating defects of ATP-sensitive potassium channels.[Hyperinsulinemic hypoglycemia of the infancy: analysis of clinical data from a Brazilian sample].Congenital hyperinsulinism: clinical and molecular characterisation of compound heterozygous ABCC8 mutation responsive to Diazoxide therapyMutations of the same conserved glutamate residue in NBD2 of the sulfonylurea receptor 1 subunit of the KATP channel can result in either hyperinsulinism or neonatal diabetesDiazoxide-unresponsive congenital hyperinsulinism in children with dominant mutations of the β-cell sulfonylurea receptor SUR1Muscle KATP channels: recent insights to energy sensing and myoprotectionHyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations.Neonatal Diabetes and Congenital Hyperinsulinism Caused by Mutations in ABCC8/SUR1 are Associated with Altered and Opposite Affinities for ATP and ADPRelative expression of a dominant mutated ABCC8 allele determines the clinical manifestation of congenital hyperinsulinism.Genetic defects in the hotspot of inwardly rectifying K(+) (Kir) channels and their metabolic consequences: a reviewGenotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia.Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia.Engineered interaction between SUR1 and Kir6.2 that enhances ATP sensitivity in KATP channels.Genotype and phenotype correlations in 417 children with congenital hyperinsulinismClinical and molecular characterisation of 300 patients with congenital hyperinsulinism.Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism DisordersPrematurity, macrosomia, hyperinsulinaemic hypoglycaemia and a dominant ABCC8 gene mutation.The molecular mechanisms, diagnosis and management of congenital hyperinsulinismMonogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes.Channeling dysglycemia: ion-channel variations perturbing glucose homeostasis.Decomposition of slide helix contributions to ATP-dependent inhibition of Kir6.2 channelsA mouse model of human hyperinsulinism produced by the E1506K mutation in the sulphonylurea receptor SUR1.Dominant form of congenital hyperinsulinism maps to HK1 region on 10q.Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time.Current Status of Childhood Hyperinsulinemic Hypoglycemia in Turkey.The role of the KATP channel in glucose homeostasis in health and disease: more than meets the islet.Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management.Hyperinsulinaemic hypoglycaemia:genetic mechanisms, diagnosis and management.Integrating genetic and imaging investigations into the clinical management of congenital hyperinsulinism.Molecular mechanisms of congenital hyperinsulinism due to autosomal dominant mutations in ABCC8.
P2860
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P2860
Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations.
description
2008 nî lūn-bûn
@nan
2008 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Clinical characteristics and b ...... minant KATP channel mutations.
@ast
Clinical characteristics and b ...... minant KATP channel mutations.
@en
Clinical characteristics and b ...... minant KATP channel mutations.
@nl
type
label
Clinical characteristics and b ...... minant KATP channel mutations.
@ast
Clinical characteristics and b ...... minant KATP channel mutations.
@en
Clinical characteristics and b ...... minant KATP channel mutations.
@nl
altLabel
Clinical characteristics and b ...... ominant KATP channel mutations
@en
prefLabel
Clinical characteristics and b ...... minant KATP channel mutations.
@ast
Clinical characteristics and b ...... minant KATP channel mutations.
@en
Clinical characteristics and b ...... minant KATP channel mutations.
@nl
P2093
P2860
P3181
P356
P1476
Clinical characteristics and b ...... minant KATP channel mutations.
@en
P2093
Arupa Ganguly
Cheryl Hanna
Courtney MacMullen
Paul Thornton
Sara E Pinney
Show-Ling Shyng
Susan Becker
Yu-Wen Lin
P2860
P304
P3181
P356
10.1172/JCI35414
P407
P577
2008-08-01T00:00:00Z