(Q37385123)

English

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

scientific article published on October 1998

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scholarly article

1 reference

Europe PubMed Central

20 August 2017

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

1 reference

Europe PubMed Central

20 August 2017

1 reference

based on heuristic

inferred from title

author name string

Verkarre V

1

1 reference

Europe PubMed Central

20 August 2017

Fournet JC

2

1 reference

Europe PubMed Central

20 August 2017

de Lonlay P

3

1 reference

Europe PubMed Central

20 August 2017

Gross-Morand MS

4

1 reference

Europe PubMed Central

20 August 2017

Devillers M

5

1 reference

Europe PubMed Central

20 August 2017

Rahier J

6

1 reference

Europe PubMed Central

20 August 2017

Brunelle F

7

1 reference

Europe PubMed Central

20 August 2017

Robert JJ

8

1 reference

Europe PubMed Central

20 August 2017

Nihoul-Fékété C

9

1 reference

Europe PubMed Central

20 August 2017

Saudubray JM

10

1 reference

Europe PubMed Central

20 August 2017

Junien C

11

1 reference

Europe PubMed Central

20 August 2017

language of work or name

0 references

publication date

1 October 1998

1 reference

Europe PubMed Central

20 August 2017

Journal of Clinical Investigation

1 reference

Europe PubMed Central

20 August 2017

102

1 reference

Europe PubMed Central

20 August 2017

1286-1291

1 reference

Europe PubMed Central

20 August 2017

7

1 reference

Europe PubMed Central

20 August 2017

Genetic heterogeneity in familial hyperinsulinism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508975

6 September 2017

Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508975

6 September 2017

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508975

6 September 2017

Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508975

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508975

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508975

6 September 2017

Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508975

6 September 2017

Imprinting of the gene encoding a human cyclin-dependent kinase inhibitor, p57KIP2, on chromosome 11p15

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508975

6 September 2017

Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508975

6 September 2017

Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508975

6 September 2017

Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508975

6 September 2017

p57KIP2, a structurally distinct member of the p21CIP1 Cdk inhibitor family, is a candidate tumor suppressor gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508975

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508975

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508975

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508975

6 September 2017

Beckwith-Wiedemann syndrome, tumourigenesis and imprinting

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508975

6 September 2017

A second-generation linkage map of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508975

6 September 2017

Monoallelic expression of the human H19 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508975

6 September 2017

Imprinted genes and regulation of gene expression by epigenetic inheritance.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508975

28 September 2017

Neonatal and infantile hypoglycemia due to insulin excess: new aspects of diagnosis and surgical management

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508975

28 September 2017

Hyperinsulinism in infants and children

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508975

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508975

26 June 2018

Pancreatic B-cell proliferation in persistent hyperinsulinemic hypoglycemia of infancy: an immunohistochemical study of 18 cases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508975

26 June 2018

Imprinting in clusters: lessons from Beckwith-Wiedemann syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508975

26 June 2018

Loss of functional KATP channels in pancreatic beta-cells causes persistent hyperinsulinemic hypoglycemia of infancy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508975

26 June 2018

Familial hyperinsulinism caused by an activating glucokinase mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508975

27 July 2018

Genomic imprinting of human p57KIP2 and its reduced expression in Wilms' tumors.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508975

2 September 2018

Hyperinsulinism in children: diagnostic value of pancreatic venous sampling correlated with clinical, pathological and surgical outcome in 25 cases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508975

2 September 2018

Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508975

2 September 2018

Diffuse and focal nesidioblastosis. A clinicopathological study of 24 patients with persistent neonatal hyperinsulinemic hypoglycemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508975

2 September 2018

Partial or near-total pancreatectomy for persistent neonatal hyperinsulinaemic hypoglycaemia: the pathologist's role

1 reference

https://pubmed.ncbi.nlm.nih.gov/9769320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pancreatic pathology in hyperinsulinemic hypoglycemia of infancy

1 reference

https://pubmed.ncbi.nlm.nih.gov/9769320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Persistent neonatal hyperinsulinism

1 reference

https://pubmed.ncbi.nlm.nih.gov/9769320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

LOCALISATION OF FOCAL LESION PERMITTING PARTIAL PANCREATECTOMY IN INFANTS

1 reference

https://pubmed.ncbi.nlm.nih.gov/9769320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Current status of pancreatectomy for persistent idiopathic neonatal hypoglycemia due to islet cell dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9769320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Parental genomic imprinting of the human IGF2 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/9769320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tumour-suppressor activity of H19 RNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/9769320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss of imprinting of IGF2 is linked to reduced expression and abnormal methylation of H19 in Wilms' tumour

1 reference

https://pubmed.ncbi.nlm.nih.gov/9769320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Ashkenazi Jews

1 reference

https://pubmed.ncbi.nlm.nih.gov/9769320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Correlations of allelic imbalance of chromosome 14 with adverse prognostic parameters in 148 renal cell carcinomas

1 reference

https://pubmed.ncbi.nlm.nih.gov/9769320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Is 95% pancreatectomy the procedure of choice for treatment of persistent hyperinsulinemic hypoglycemia of the neonate?

1 reference

https://pubmed.ncbi.nlm.nih.gov/9769320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Disomy and disease resolved?

1 reference

https://pubmed.ncbi.nlm.nih.gov/9769320

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

https://pubmed.ncbi.nlm.nih.gov/9769320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI4495

1 reference

Europe PubMed Central

20 August 2017

1 reference

Europe PubMed Central

20 August 2017

1 reference

Europe PubMed Central

20 August 2017

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