Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy
about
A glutamate residue at the C terminus regulates activity of inward rectifier K+ channels: implication for Andersen's syndrome.ATP-sensitive potassium channel (KATP channel) expression in the normal canine pancreas and in canine insulinomas.Hyperinsulinemic Hypoglycemia - The Molecular MechanismsPermanent 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.Toward understanding the assembly and structure of KATP channelsTissue-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 KCNJ11Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A geneChronic antidiabetic sulfonylureas in vivo: reversible effects on mouse pancreatic beta-cellsThe MODY1 gene HNF-4alpha regulates selected genes involved in insulin secretion.Pancreatic endocrine and exocrine function in children following near-total pancreatectomy for diffuse congenital hyperinsulinismClinical and molecular data from 61 Brazilian cases of Congenital Hyperinsulinemic Hypoglycemia.Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations.Genetics of neonatal hyperinsulinism.Factitious hyperinsulinemic hypoglycemia in infancy: diagnostic pitfalls.ATP-sensitive potassium channelopathies: focus on insulin secretionMolecular mechanisms of protein induced hyperinsulinaemic hypoglycaemia.Calcium-stimulated insulin secretion in diffuse and focal forms of congenital hyperinsulinism.Pharmacogenetics of Anti-Diabetes Drugs.Genetic Variations in the Kir6.2 Subunit (KCNJ11) of Pancreatic ATP-Sensitive Potassium Channel Gene Are Associated with Insulin Response to Glucose Loading and Early Onset of Type 2 Diabetes in Childhood and Adolescence in Taiwan.Ion channel associated diseases: overview of molecular mechanismsThe molecular mechanisms and pharmacotherapy of ATP-sensitive potassium channel gene mutations underlying neonatal diabetesMutational analysis of KCNJ11 in Chinese elderly essential hypertensive patientsMonogenic syndromes of abnormal glucose homeostasis: clinical review and relevance to the understanding of the pathology of insulin resistance and beta cell failure.Genetic heterogeneity in familial hyperinsulinism.Ten years' experience of persistent hyperinsulinaemic hypoglycaemia of infancy.K(ATP) channels and insulin secretion disorders.Pharmacodynamic considerations with recombinant human insulin-like growth factor-I in children.Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.Deconstructing pancreas development to reconstruct human islets from pluripotent stem cells.Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations.Replication of KCNJ11 (p.E23K) and ABCC8 (p.S1369A) Association in Russian Diabetes Mellitus 2 Type Cohort and Meta-Analysis.Hyperinsulinism in infancy: from basic science to clinical disease.Ion channels: function unravelled by dysfunction.Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia.Persistent hyperinsulinemic hypoglycemia of infancy: An overview of current conceptsFrom congenital hyperinsulinism to diabetes mellitus: the role of pancreatic beta-cell KATP channels.Hypoglycaemia related to inherited metabolic diseases in adults
P2860
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P2860
Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy
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
Mutation of the pancreatic isl ...... inemic hypoglycemia of infancy
@ast
Mutation of the pancreatic isl ...... inemic hypoglycemia of infancy
@en
Mutation of the pancreatic isl ...... inemic hypoglycemia of infancy
@en-gb
Mutation of the pancreatic isl ...... inemic hypoglycemia of infancy
@nl
type
label
Mutation of the pancreatic isl ...... inemic hypoglycemia of infancy
@ast
Mutation of the pancreatic isl ...... inemic hypoglycemia of infancy
@en
Mutation of the pancreatic isl ...... inemic hypoglycemia of infancy
@en-gb
Mutation of the pancreatic isl ...... inemic hypoglycemia of infancy
@nl
prefLabel
Mutation of the pancreatic isl ...... inemic hypoglycemia of infancy
@ast
Mutation of the pancreatic isl ...... inemic hypoglycemia of infancy
@en
Mutation of the pancreatic isl ...... inemic hypoglycemia of infancy
@en-gb
Mutation of the pancreatic isl ...... inemic hypoglycemia of infancy
@nl
P2093
P921
P3181
P356
P1476
Mutation of the pancreatic isl ...... inemic hypoglycemia of infancy
@en
P2093
P304
P3181
P356
10.1093/HMG/5.11.1809
P407
P577
1996-11-01T00:00:00Z