(Q28292136)

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Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism

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Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism (English)

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Anna L Gloyn

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Sian Ellard

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author name string

Juveria Siddiqui

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March 2006

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27

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3

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220-31

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Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11

1 reference

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21 January 2018

Genetics of neonatal hyperinsulinism.

1 reference

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21 January 2018

K(ATP) channels and insulin secretion disorders

1 reference

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21 January 2018

Somatostatin inhibition of Ca2(+)-induced insulin secretion in permeabilized HIT-T15 cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

21 January 2018

A multidisciplinary approach to the focal form of congenital hyperinsulinism leads to successful treatment by partial pancreatectomy

1 reference

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7 January 2021

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Cloning of the beta cell high-affinity sulfonylurea receptor: a regulator of insulin secretion

1 reference

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7 January 2021

based on heuristic

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Functional analysis of a structural model of the ATP-binding site of the KATP channel Kir6.2 subunit.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

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Glucose induces closure of single potassium channels in isolated rat pancreatic beta-cells

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7 January 2021

based on heuristic

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ATP-sensitive potassium channelopathies: focus on insulin secretion

1 reference

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7 January 2021

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Practical management of hyperinsulinism in infancy

1 reference

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7 January 2021

based on heuristic

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Identification of a functionally important negatively charged residue within the second catalytic site of the SUR1 nucleotide-binding domains.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Association and stoichiometry of K(ATP) channel subunits

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

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High-dose glibenclamide can replace insulin therapy despite transitory diarrhea in early-onset diabetes caused by a novel R201L Kir6.2 mutation

1 reference

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7 January 2021

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Compound heterozygosity for the common sulfonylurea receptor mutations can cause mild diazoxide-sensitive hyperinsulinism

1 reference

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7 January 2021

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Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical features of 52 neonates with hyperinsulinism.

1 reference

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7 January 2021

based on heuristic

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EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor

1 reference

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7 January 2021

based on heuristic

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Activating Mutations in the KCNJ11 Gene Encoding the ATP-Sensitive K+ Channel Subunit Kir6.2 Are Rare in Clinically Defined Type 1 Diabetes Diagnosed Before 2 Years

1 reference

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7 January 2021

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Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Persistent hyperinsulinemic hypoglycemia of infancy: Long-term octreotide treatment without pancreatectomy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Association studies of variants in promoter and coding regions of beta-cell ATP-sensitive K-channel genes SUR1 and Kir6.2 with Type 2 diabetes mellitus (UKPDS 53).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations

1 reference

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7 January 2021

based on heuristic

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Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

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Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Relapsing diabetes can result from moderately activating mutations in KCNJ11.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Variant in sulfonylurea receptor-1 gene is associated with high insulin concentrations in non-diabetic Mexican Americans: SUR-1 gene variant and hyperinsulinemia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Conformational dynamics of the ligand-binding domain of inward rectifier K channels as revealed by molecular dynamics simulations: toward an understanding of Kir channel gating.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Missense mutations in the pancreatic islet beta cell inwardly rectifying K+ channel gene (KIR6.2/BIR): a meta-analysis suggests a role in the polygenic basis of Type II diabetes mellitus in Caucasians

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Decreased tolbutamide-stimulated insulin secretion in healthy subjects with sequence variants in the high-affinity sulfonylurea receptor gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic variability of the SUR1 promoter in relation to beta-cell function and Type II diabetes mellitus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel syndrome of autosomal-dominant hyperinsulinemic hypoglycemia linked to a mutation in the human insulin receptor gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Subunit stoichiometry of the pancreatic β-cell ATP-sensitive K+ channel

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Sequence variants in the sulfonylurea receptor (SUR) gene are associated with NIDDM in Caucasians

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

KCNJ11 polymorphisms and sudden cardiac death in patients with acute myocardial infarction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Beta-cell proliferation and apoptosis in the developing normal human pancreas and in hyperinsulinism of infancy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

The identification of a R201H mutation in KCNJ11, which encodes Kir6.2, and successful transfer to sustained-release sulphonylurea therapy in a subject with neonatal diabetes: evidence for heterogeneity of beta cell function among carriers of the R2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Targeted Overactivity of β Cell KATP Channels Induces Profound Neonatal Diabetes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Crystal structure of the potassium channel KirBac1.1 in the closed state

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

E23K single nucleotide polymorphism in the islet ATP-sensitive potassium channel gene (Kir6.2) contributes as much to the risk of Type II diabetes in Caucasians as the PPARgamma Pro12Ala variant.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic heterogeneity in familial hyperinsulinism.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Adenosine diphosphate as an intracellular regulator of insulin secretion.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

The E23K variant of Kir6.2 associates with impaired post-OGTT serum insulin response and increased risk of type 2 diabetes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Structural basis of inward rectification: cytoplasmic pore of the G protein-gated inward rectifier GIRK1 at 1.8 A resolution

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Neonatal diabetes mellitus due to complete glucokinase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification and functional analysis of sulfonylurea receptor 1 variants in Japanese patients with NIDDM.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Neonatal and very-early-onset diabetes mellitus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Permanent neonatal diabetes in an Asian infant.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation by MgATP.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Persistent hyperinsulinaemic hypoglycaemia of infancy (nesidioblastosis): a report from Kuwait.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Characterisation of new KATP-channel mutations associated with congenital hyperinsulinism in the Finnish population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Cloning and functional expression of the cDNA encoding a novel ATP-sensitive potassium channel subunit expressed in pancreatic beta-cells, brain, heart and skeletal muscle

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Sequence variations in the human Kir6.2 gene, a subunit of the beta-cell ATP-sensitive K-channel: no association with NIDDM in while Caucasian subjects or evidence of abnormal function when expressed in vitro

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Nucleotide sensitivity of pancreatic ATP-sensitive potassium channels and type 2 diabetes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

K(IR)6.2 polymorphism predisposes to type 2 diabetes by inducing overactivity of pancreatic beta-cell ATP-sensitive K(+) channels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

The common single nucleotide polymorphism E23K in K(IR)6.2 sensitizes pancreatic beta-cell ATP-sensitive potassium channels toward activation through nucleoside diphosphates

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Diverse roles of K(ATP) channels learned from Kir6.2 genetically engineered mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in PTF1A cause pancreatic and cerebellar agenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Hyperinsulinism of infancy: the regulated release of insulin by KATP channel-independent pathways.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Histopathology of congenital hyperinsulinism: retrospective study with genotype correlations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic analysis of Japanese patients with persistent hyperinsulinemic hypoglycemia of infancy: nucleotide-binding fold-2 mutation impairs cooperative binding of adenine nucleotides to sulfonylurea receptor 1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Membrane topology distinguishes a subfamily of the ATP-binding cassette (ABC) transporters

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20292

7 January 2021

based on heuristic

inferred from DOI database lookup

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10.1002/HUMU.20292

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