Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism (Q37259401)

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scientific article published on February 2009

Language	Label	Description	Also known as
English	Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism	scientific article published on February 2009

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

19 August 2017

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Europe PubMed Central

Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism (English)

1 reference

Europe PubMed Central

PubMed publication ID

19 August 2017

Christine Bellanné-Chantelot

3

object named as

Christine Bellanné-Chantelot

1 reference

Europe PubMed Central

PubMed publication ID

19 August 2017

object named as

Sarah E Flanagan

1

0 references

object named as

Anna L Gloyn

6

0 references

object named as

Sian Ellard

7

0 references

Séverine Clauin

2

object named as

Séverine Clauin

1 reference

Europe PubMed Central

PubMed publication ID

19 August 2017

Pascale de Lonlay

4

object named as

Pascale de Lonlay

1 reference

Europe PubMed Central

PubMed publication ID

19 August 2017

author name string

Lorna W Harries

5

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Europe PubMed Central

PubMed publication ID

19 August 2017

publication date

1 February 2009

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Europe PubMed Central

PubMed publication ID

19 August 2017

1 reference

Europe PubMed Central

PubMed publication ID

19 August 2017

30

1 reference

Europe PubMed Central

PubMed publication ID

19 August 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

19 August 2017

170-180

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Europe PubMed Central

PubMed publication ID

19 August 2017

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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.20838

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

ATP-sensitive potassium channelopathies: focus on insulin secretion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Practical management of hyperinsulinism in infancy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Identification of two novel frameshift mutations in the KCNJ11 gene in two Italian patients affected by Congenital Hyperinsulinism of Infancy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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.20838

21 January 2018

Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

N-terminal transmembrane domain of the SUR controls trafficking and gating of Kir6 channel subunits

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Transient neonatal diabetes mellitus is associated with a recurrent (R201H) KCNJ11 (KIR6.2) mutation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Clinical features of 52 neonates with hyperinsulinism.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Laparoscopic diagnosis and cure of hyperinsulinism in two cases of focal adenomatous hyperplasia in infancy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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.20838

21 January 2018

KATP channel inhibition by ATP requires distinct functional domains of the cytoplasmic C terminus of the pore-forming subunit

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Aetiological heterogeneity of asymptomatic hyperglycaemia in children and adolescents

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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.20838

21 January 2018

An imprinted locus associated with transient neonatal diabetes mellitus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

The Knudson’s Two-Hit Model and Timing of Somatic Mutation May Account for the Phenotypic Diversity of Focal Congenital Hyperinsulinism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Hyperinsulinism caused by paternal-specific inheritance of a recessive mutation in the sulfonylurea-receptor gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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.20838

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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.20838

21 January 2018

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.20838

21 January 2018

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.20838

21 January 2018

Relapsing diabetes can result from moderately activating mutations in KCNJ11.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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.20838

21 January 2018

Dysregulation of insulin secretion in children with congenital hyperinsulinism due to sulfonylurea receptor mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Focus on Kir6.2: a key component of the ATP-sensitive potassium channel

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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.20838

21 January 2018

Diagnosis and localization of focal congenital hyperinsulinism by 18F-fluorodopa PET scan.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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.20838

21 January 2018

Diagnosis and management of hyperinsulinaemic hypoglycaemia of infancy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

An ABCC8 gene mutation and mosaic uniparental isodisomy resulting in atypical diffuse congenital hyperinsulinism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

p57(KIP2) expression in normal islet cells and in hyperinsulinism of infancy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Sulfonylurea therapy in two Korean patients with insulin-treated neonatal diabetes due to heterozygous mutations of the KCNJ11 gene encoding Kir6.2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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.20838

21 January 2018

Targeted Overactivity of β Cell KATP Channels Induces Profound Neonatal Diabetes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

ATP and sulfonylurea sensitivity of mutant ATP-sensitive K+ channels in neonatal diabetes: implications for pharmacogenomic therapy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Kir6.2 mutations associated with neonatal diabetes reduce expression of ATP-sensitive K+ channels: implications in disease mechanism and sulfonylurea therapy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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.20838

21 January 2018

Kir6.2 mutations causing neonatal diabetes prevent endocytosis of ATP-sensitive potassium channels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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.20838

21 January 2018

An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Persistent hyperinsulinaemic hypoglycaemia of infancy: therapy, clinical outcome and mutational analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Complex ABCC8 DNA variations in congenital hyperinsulinism: lessons from functional studies.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Genetic heterogeneity in familial hyperinsulinism.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Adenosine diphosphate as an intracellular regulator of insulin secretion.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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.20838

21 January 2018

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.20838

21 January 2018

Neonatal diabetes mellitus due to complete glucokinase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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.20838

21 January 2018

Genotypes of the pancreatic beta-cell K-ATP channel and clinical phenotypes of Japanese patients with persistent hyperinsulinaemic hypoglycaemia of infancy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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.20838

21 January 2018

Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Identification and pharmacological correction of a membrane trafficking defect associated with a mutation in the sulfonylurea receptor causing familial hyperinsulinism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Multiple ectopic lesions of focal islet adenomatosis identified by positron emission tomography scan in an infant with congenital hyperinsulinism.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Neonatal and very-early-onset diabetes mellitus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Permanent neonatal diabetes in an Asian infant.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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.20838

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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.20838

21 January 2018

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Functional effects of mutations at F35 in the NH2-terminus of Kir6.2 (KCNJ11), causing neonatal diabetes, and response to sulfonylurea therapy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Mechanism of action of a sulphonylurea receptor SUR1 mutation (F132L) that causes DEND syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Hyperinsulinism: molecular aetiology of focal disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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.20838

21 January 2018

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.20838

21 January 2018

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.20838

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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.20838

21 January 2018

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.20838

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Mutations in PTF1A cause pancreatic and cerebellar agenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Familial hyperinsulinism and pancreatic beta-cell ATP-sensitive potassium channels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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.20838

21 January 2018

Assessment of insulin sensitivity in adults with permanent neonatal diabetes mellitus due to mutations in the KCNJ11 gene encoding Kir6.2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Preoperative evaluation of infants with focal or diffuse congenital hyperinsulinism by intravenous acute insulin response tests and selective pancreatic arterial calcium stimulation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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.20838

21 January 2018

Insulin gene mutations as a cause of permanent neonatal diabetes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Histopathology of congenital hyperinsulinism: retrospective study with genotype correlations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Molecular basis of neonatal diabetes in Japanese patients.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Functional analysis of two Kir6.2 (KCNJ11) mutations, K170T and E322K, causing neonatal diabetes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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.20838

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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.20838

21 January 2018

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.20838

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Molecular analysis of ATP-sensitive K channel gating and implications for channel inhibition by ATP.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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.20838

21 January 2018

New ABCC8 mutations in relapsing neonatal diabetes and clinical features

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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.20838

21 January 2018

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.20838

21 January 2018

Sulfonylureas correct trafficking defects of ATP-sensitive potassium channels caused by mutations in the sulfonylurea receptor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Congenital hyperinsulinism associated ABCC8 mutations that cause defective trafficking of ATP-sensitive K+ channels: identification and rescue

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

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.20838

21 January 2018

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.20838

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Sulfonylurea-Responsive Diabetes in Childhood

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Functional Analysis of a Mutant Sulfonylurea Receptor, SUR1-R1420C, That Is Responsible for Persistent Hyperinsulinemic Hypoglycemia of Infancy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

21 January 2018

Transition from insulin to glyburide in a 4-month-old girl with neonatal diabetes mellitus caused by a mutation in KCNJ11

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

7 January 2021

based on heuristic

inferred from DOI database lookup

Sulfonylurea treatment in young children with neonatal diabetes: dealing with hyperglycemia, hypoglycemia, and sick days

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

7 January 2021

based on heuristic

inferred from DOI database lookup

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

https://api.crossref.org/works/10.1002%2FHUMU.20838

7 January 2021

based on heuristic

inferred from DOI database lookup

HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes under the age of 6 months

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in ATP-Sensitive K+ Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

7 January 2021

based on heuristic

inferred from DOI database lookup

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

https://api.crossref.org/works/10.1002%2FHUMU.20838

7 January 2021

based on heuristic

inferred from DOI database lookup

Protein-sensitive hypoglycemia without leucine sensitivity in hyperinsulinism caused by KATP channel mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetics of neonatal hyperinsulinism.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

7 January 2021

based on heuristic

inferred from DOI database lookup

Genotype-phenotype associations in patients with severe hyperinsulinism of infancy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

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.20838

7 January 2021

based on heuristic

inferred from DOI database lookup

K(ATP) channels and insulin secretion disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

7 January 2021

based on heuristic

inferred from DOI database lookup

Permanent diabetes mellitus in the first year of life

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

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.20838

7 January 2021

based on heuristic

inferred from DOI database lookup

A Mutation in the TMD0-L0 Region of Sulfonylurea Receptor-1 (L225P) Causes Permanent Neonatal Diabetes Mellitus (PNDM)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

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.20838

7 January 2021

based on heuristic

inferred from DOI database lookup

Prenatal Diagnosis and Postnatal Management of Diffuse Congenital Hyperinsulinism: A Case Report

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

7 January 2021

based on heuristic

inferred from DOI database lookup

The basic structural lesion of persistent neonatal hypoglycaemia with hyperinsulinism: deficiency of pancreatic D cells or hyperactivity of B cells?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

7 January 2021

based on heuristic

inferred from DOI database lookup

The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

7 January 2021

based on heuristic

inferred from DOI database lookup

Characterization of genes encoding the pancreatic beta-cell ATP-sensitive K+ channel in persistent hyperinsulinemic hypoglycemia of infancy in Japanese patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

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.20838

7 January 2021

based on heuristic

inferred from DOI database lookup

ATP sensitivity of the ATP-sensitive K+ channel in intact and permeabilized pancreatic beta-cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

7 January 2021

based on heuristic

inferred from DOI database lookup

Sulfonylurea treatment outweighs insulin therapy in short-term metabolic control of patients with permanent neonatal diabetes mellitus due to activating mutations of the KCNJ11 (KIR6.2) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20838

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.20838

1 reference

Europe PubMed Central

PubMed publication ID

19 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

19 August 2017

ResearchGate publication ID

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