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Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations
scientific article
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scholarly article
1 reference
stated in
PubMed
PubMed ID
18596924
retrieved
16 November 2016
title
Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations
(English)
1 reference
stated in
PubMed
PubMed ID
18596924
retrieved
16 November 2016
main subject
biochemistry
0 references
congenital disorder
0 references
author
Charles A Stanley
object named as
Charles A Stanley
series ordinal
9
0 references
author name string
Yu-Wen Lin
series ordinal
4
0 references
Susan Becker
series ordinal
3
0 references
Show-Ling Shyng
series ordinal
8
0 references
Sara E Pinney
series ordinal
1
0 references
Paul Thornton
series ordinal
6
0 references
Courtney MacMullen
series ordinal
2
0 references
Cheryl Hanna
series ordinal
5
0 references
Arupa Ganguly
series ordinal
7
0 references
language of work or name
English
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publication date
August 2008
0 references
published in
Journal of Clinical Investigation
1 reference
stated in
PubMed
volume
118
0 references
issue
8
0 references
page(s)
2877-86
0 references
cites work
A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channels
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441858
retrieved
20 March 2017
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441858
retrieved
20 March 2017
Acute insulin responses to leucine in children with the hyperinsulinism/hyperammonemia syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441858
retrieved
20 March 2017
Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441858
retrieved
20 March 2017
Preoperative evaluation of infants with focal or diffuse congenital hyperinsulinism by intravenous acute insulin response tests and selective pancreatic arterial calcium stimulation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441858
retrieved
20 March 2017
Dysregulation of insulin secretion in children with congenital hyperinsulinism due to sulfonylurea receptor mutations
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441858
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20 March 2017
Congenital hyperinsulinism associated ABCC8 mutations that cause defective trafficking of ATP-sensitive K+ channels: identification and rescue
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441858
retrieved
29 September 2017
Mechanisms of Disease: advances in diagnosis and treatment of hyperinsulinism in neonates
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441858
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29 September 2017
Dominantly inherited hyperinsulinaemic hypoglycaemia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441858
retrieved
29 September 2017
Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441858
retrieved
29 September 2017
Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441858
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29 September 2017
Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1.
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441858
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29 September 2017
Calcium-stimulated insulin secretion in diffuse and focal forms of congenital hyperinsulinism
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441858
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29 September 2017
Abnormalities of pancreatic islets by targeted expression of a dominant-negative KATP channel
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441858
retrieved
29 September 2017
Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews.
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441858
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29 September 2017
Adenosine diphosphate as an intracellular regulator of insulin secretion.
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441858
retrieved
29 September 2017
Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441858
retrieved
29 September 2017
A signaling role of glutamine in insulin secretion
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441858
retrieved
2 June 2018
Sur1 knockout mice. A model for K(ATP) channel-independent regulation of insulin secretion
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441858
retrieved
2 June 2018
Clinical features of 52 neonates with hyperinsulinism.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441858
retrieved
2 June 2018
Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441858
retrieved
2 June 2018
Hyperinsulinism in infancy: diagnosis by demonstration of abnormal response to fasting hypoglycemia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441858
retrieved
2 June 2018
Accuracy of [18F]fluorodopa positron emission tomography for diagnosing and localizing focal congenital hyperinsulinism
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441858
retrieved
27 November 2018
Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441858
retrieved
27 November 2018
Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441858
retrieved
27 November 2018
Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441858
retrieved
27 November 2018
A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441858
retrieved
27 November 2018
Sulfonylurea receptor type 1 knock-out mice have intact feeding-stimulated insulin secretion despite marked impairment in their response to glucose
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441858
retrieved
27 November 2018
Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441858
retrieved
27 November 2018
Glycemic response to glucagon during fasting hypoglycemia: an aid in the diagnosis of hyperinsulinism.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441858
retrieved
27 November 2018
Hyperinsulinism in mice with heterozygous loss of K(ATP) channels
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/18596924
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Comparing diabetes prevalence between African Americans and Whites of similar socioeconomic status
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/18596924
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Beta-cell proliferation and apoptosis in the developing normal human pancreas and in hyperinsulinism of infancy
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/18596924
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Association and stoichiometry of K(ATP) channel subunits
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/18596924
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/18596924
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1172/JCI35414
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4836785
Fatcat ID
release_l332g7k3bnbtli2caq3465xsku
1 reference
stated in
Fatcat
reference URL
https://api.fatcat.wiki/v0/release/l332g7k3bnbtli2caq3465xsku
retrieved
24 November 2022
based on heuristic
mapped directly with Wikidata item
OpenCitations bibliographic resource ID
4836785
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4836785
PMCID
2441858
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4836785
PubMed ID
18596924
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4836785
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