(Q28366519)

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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

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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 (English)

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congenital disorder

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1 reference

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author name string

J C Fournet

1

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C Mayaud

2

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P de Lonlay

3

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M S Gross-Morand

4

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V Verkarre

5

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M Castanet

6

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M Devillers

7

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J Rahier

8

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F Brunelle

9

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J J Robert

10

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C Nihoul-Fékété

11

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J M Saudubray

12

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C Junien

13

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language of work or name

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publication date

June 2001

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The American Journal of Pathology

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158

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6

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2177-84

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describes a project that uses

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1891997/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

Congenital hyperinsulinism: molecular basis of a heterogeneous disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1891997

20 March 2017

Imprinting of a genomic domain of 11p15 and loss of imprinting in cancer: an introduction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1891997

20 March 2017

Sequence variants in the pancreatic islet beta-cell inwardly rectifying K+ channel Kir6.2 (Bir) gene: identification and lack of role in Caucasian patients with NIDDM

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1891997

20 March 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=1891997

20 March 2017

An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1891997

20 March 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=1891997

20 March 2017

Constitutional relaxation of insulin-like growth factor II gene imprinting associated with Wilms' tumour and gigantism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1891997

20 March 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=1891997

20 March 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=1891997

20 March 2017

Sequence and functional comparison in the Beckwith-Wiedemann region: implications for a novel imprinting centre and extended imprinting

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1891997

29 September 2017

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1891997

29 September 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=1891997

29 September 2017

Cure of hypoglycemic hyperinsulinism by enucleation of a focal islet cell adenomatous hyperplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1891997

29 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=1891997

29 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=1891997

29 September 2017

Activation of an imprinted allele of the insulin-like growth factor II gene implicated in rhabdomyosarcoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1891997

29 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=1891997

29 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=1891997

29 September 2017

Epigenetic changes encompassing the IGF2/H19 locus associated with relaxation of IGF2 imprinting and silencing of H19 in Wilms tumor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1891997

29 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=1891997

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1891997

2 June 2018

Clinical features of 52 neonates with hyperinsulinism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1891997

2 June 2018

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=1891997

2 June 2018

Pancreatic beta cells cultured from individual preneoplastic foci in a multistage tumorigenesis pathway: a potentially general technique for isolating physiologically representative cell lines

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1891997

2 June 2018

Insulin-like growth factor-II gene expression in Wilms' tumour and embryonic tissues.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1891997

2 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=1891997

28 July 2018

A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1891997

27 November 2018

The H19 transcript is associated with polysomes and may regulate IGF2 expression in trans.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1891997

27 November 2018

A syndrome of congenital hyperinsulinism and hyperammonemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1891997

27 November 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=1891997

27 November 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=1891997

27 November 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=1891997

27 November 2018

Biochemical evaluation of a patient with a familial form of leucine-sensitive hypoglycemia and concomitant hyperammonemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1891997

27 November 2018

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

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2964689-5

7 January 2021

Pancreatic venous samplings in infants and children with primary hyperinsulinism

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2964689-5

7 January 2021

LOCALISATION OF FOCAL LESION PERMITTING PARTIAL PANCREATECTOMY IN INFANTS

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2964689-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2964689-5

7 January 2021

Familial hyperinsulinism with apparent autosomal dominant inheritance: Clinical and genetic differences from the autosomal recessive variant

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2964689-5

7 January 2021

Tumour-suppressor activity of H19 RNA

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2964689-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2964689-5

7 January 2021

IGF2 is parentally imprinted during human embryogenesis and in the Beckwith-Wiedemann syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2964689-5

7 January 2021

Parental genomic imprinting of the human IGF2 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2964689-5

7 January 2021

Relaxation of insulin-like growth factor II gene imprinting implicated in Wilms' tumour

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2964689-5

7 January 2021

Epigenetic lesions at the H19 locus in Wilms' tumour patients

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2964689-5

7 January 2021

Expression of insulin-like growth factor-II transcripts in Wilms' tumour

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2964689-5

7 January 2021

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

2 references

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2964689-5

7 January 2021

https://pubmed.ncbi.nlm.nih.gov/11395395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An Autosomal Dominant Form of Familial Persistent Hyperinsulinemic Hypoglycemia of Infancy, Not Linked to the Sulfonylurea Receptor Locus1

1 reference

https://pubmed.ncbi.nlm.nih.gov/11395395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inactivation of H19, an imprinted and putative tumor repressor gene, is a preneoplastic event during Wilms' tumorigenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/11395395

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/11395395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss of imprinting of IGF2 in Ewing's sarcoma

1 reference

https://pubmed.ncbi.nlm.nih.gov/11395395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/S0002-9440(10)64689-5

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release_oygdm67u3za5fk4vlahtwao6hi

1 reference

https://api.fatcat.wiki/v0/release/oygdm67u3za5fk4vlahtwao6hi

24 November 2022

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mapped directly with Wikidata item

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