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

4

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Susan Becker

3

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Show-Ling Shyng

8

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Sara E Pinney

1

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Paul Thornton

6

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Courtney MacMullen

2

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Cheryl Hanna

5

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Arupa Ganguly

Journal of Clinical Investigation

7

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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

8

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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

1 reference

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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

1 reference

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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

1 reference

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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 KATP 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

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

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

2 June 2018

1 reference

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

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

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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

4836785

Fatcat ID

1 reference

Fatcat

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

24 November 2022

mapped directly with Wikidata item

4836785

1 reference

1 reference

1 reference