Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11.
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New insights from monogenic diabetes for "common" type 2 diabetesNew opportunities: harnessing induced pluripotency for discovery in diabetes and metabolismGenetic and epigenetic control of metabolic healthSystemic Administration of Glibenclamide Fails to Achieve Therapeutic Levels in the Brain and Cerebrospinal Fluid of RodentsGenetic variations in magnesium-related ion channels may affect diabetes risk among African American and Hispanic American womenPermanent neonatal diabetes mellitus in China.Gene-specific function prediction for non-synonymous mutations in monogenic diabetes genes.Functional characterization of a novel KCNJ11 in frame mutation-deletion associated with infancy-onset diabetes and a mild form of intermediate DEND: a battle between K(ATP) gain of channel activity and loss of channel expression.Mechanism of KATP hyperactivity and sulfonylurea tolerance due to a diabetogenic mutation in L0 helix of sulfonylurea receptor 1 (ABCC8)Cantú syndrome is caused by mutations in ABCC9.The value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2-W68G mutation.Age at the time of sulfonylurea initiation influences treatment outcomes in KCNJ11-related neonatal diabetesContinued lessons from the INS gene: an intronic mutation causing diabetes through a novel mechanism.Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiencyMonogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes.Management of diabetes mellitus in infants.Integrating genetic and imaging investigations into the clinical management of congenital hyperinsulinism.Neonatal diabetes caused by activating mutations in the sulphonylurea receptorModulation of Ionic Channels and Insulin Secretion by Drugs and Hormones in Pancreatic Beta Cells.A mutation causing increased KATP channel activity leads to reduced anxiety in mice.Compound heterozygous mutations in the SUR1 (ABCC 8) subunit of pancreatic K(ATP) channels cause neonatal diabetes by perturbing the coupling between Kir6.2 and SUR1 subunits.6q24 Transient Neonatal Diabetes - How to Manage while Waiting for Genetic Results.KATP Channel Mutations and Neonatal Diabetes.Defective ABCC8 can cause hypoglycemias and hyperglycemiasMolecular structure of human KATP in complex with ATP and ADP.Clinical profile and outcome of infantile onset diabetes mellitus in southern India.Permanent neonatal diabetes caused by a novel mutation.The Role of KCNQ1 Mutations and Maternal Beta Blocker Use During Pregnancy in the Growth of Children With Long QT Syndrome.
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Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on September 2010
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11.
@en
Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11.
@nl
type
label
Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11.
@en
Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11.
@nl
prefLabel
Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11.
@en
Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11.
@nl
P2860
P1476
Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11.
@en
P2093
Emma L Edghill
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P2888
P304
P356
10.1007/S11154-010-9149-X
P577
2010-09-01T00:00:00Z