Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations (Q27865219)

16 November 2016

title

Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations (English)

1 reference

PubMed publication ID

16 November 2016

0 references

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Charles A Stanley

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Yu-Wen Lin

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Susan Becker

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Show-Ling Shyng

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Sara E Pinney

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Paul Thornton

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Courtney MacMullen

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Cheryl Hanna

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Arupa Ganguly

Journal of Clinical Investigation

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language of work or name

English

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publication date

August 2008

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published in

1 reference

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

volume

118

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issue

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page(s)

2877-86

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cites work

1 reference

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

20 March 2017

1 reference

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Acute insulin responses to leucine in children with the hyperinsulinism/hyperammonemia syndrome

20 March 2017

1 reference

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

20 March 2017

1 reference

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

20 March 2017

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

20 March 2017

1 reference

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

20 March 2017

1 reference

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Mechanisms of Disease: advances in diagnosis and treatment of hyperinsulinism in neonates

29 September 2017

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Dominantly inherited hyperinsulinaemic hypoglycaemia

29 September 2017

1 reference

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Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome.

29 September 2017

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

29 September 2017

1 reference

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

29 September 2017

1 reference

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Calcium-stimulated insulin secretion in diffuse and focal forms of congenital hyperinsulinism

29 September 2017

1 reference

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Abnormalities of pancreatic islets by targeted expression of a dominant-negative K ATP channel

29 September 2017

1 reference

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

29 September 2017

1 reference

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Adenosine diphosphate as an intracellular regulator of insulin secretion.

29 September 2017

1 reference

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

29 September 2017

1 reference

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A signaling role of glutamine in insulin secretion

29 September 2017

1 reference

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Sur1 knockout mice. A model for K(ATP) channel-independent regulation of insulin secretion

2 June 2018

1 reference

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Clinical features of 52 neonates with hyperinsulinism.

2 June 2018

1 reference

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

2 June 2018

1 reference

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Hyperinsulinism in infancy: diagnosis by demonstration of abnormal response to fasting hypoglycemia

2 June 2018

1 reference

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Accuracy of [18F]fluorodopa positron emission tomography for diagnosing and localizing focal congenital hyperinsulinism

2 June 2018

1 reference

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

27 November 2018

1 reference

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

27 November 2018

1 reference

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441858

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441858

Sulfonylurea receptor type 1 knock-out mice have intact feeding-stimulated insulin secretion despite marked impairment in their response to glucose

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441858

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441858

Glycemic response to glucagon during fasting hypoglycemia: an aid in the diagnosis of hyperinsulinism.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441858

Hyperinsulinism in mice with heterozygous loss of K(ATP) channels

27 November 2018

1 reference

12 December 2020

Comparing diabetes prevalence between African Americans and Whites of similar socioeconomic status

1 reference

12 December 2020

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

1 reference

12 December 2020

Association and stoichiometry of K(ATP) channel subunits

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI35414

1 reference

release_l332g7k3bnbtli2caq3465xsku

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/l332g7k3bnbtli2caq3465xsku

24 November 2022

mapped directly with Wikidata item

1 reference

1 reference

PubMed publication ID

18596924

1 reference