(Q35043418)

6 August 2017

Diazoxide-unresponsive congenital hyperinsulinism in children with dominant mutations of the β-cell sulfonylurea receptor SUR1 (English)

1 reference

6 August 2017

0 references

corrigendum / erratum

0 references

Charles A Stanley

9

0 references

author name string

Courtney M Macmullen

1

1 reference

6 August 2017

Qing Zhou

2

1 reference

6 August 2017

Kara E Snider

3

1 reference

6 August 2017

Paul H Tewson

4

1 reference

6 August 2017

Susan A Becker

5

1 reference

6 August 2017

Ali Rahim Aziz

6

1 reference

6 August 2017

Arupa Ganguly

7

1 reference

6 August 2017

Show-Ling Shyng

8

1 reference

6 August 2017

language of work or name

English

0 references

publication date

2 May 2011

1 reference

6 August 2017

1 reference

6 August 2017

60

1 reference

6 August 2017

6

1 reference

6 August 2017

1797-1804

1 reference

Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported

6 August 2017

start time

27 August 2021

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Topology prediction of helical transmembrane proteins: how far have we reached?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3114386

Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3114386

A method and server for predicting damaging missense mutations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3114386

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3114386

Exendin-(9-39) corrects fasting hypoglycemia in SUR-1-/- mice by lowering cAMP in pancreatic beta-cells and inhibiting insulin secretion

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3114386

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3114386

A novel ABCC8 (SUR1)-dependent mechanism of metabolism-excitation uncoupling

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3114386

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3114386

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3114386

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3114386

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3114386

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3114386

The C terminus of SUR1 is required for trafficking of KATP channels

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3114386

Molecular biology of adenosine triphosphate-sensitive potassium channels

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3114386

Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3114386

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3114386

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3114386

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3114386

Transmembrane topology of the sulfonylurea receptor SUR1.

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3114386

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

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3114386

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

25 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21536946

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.2337/DB10-1631

1 reference

release_nj7rovafyrgg5apfmtxxuvj34e

6 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/nj7rovafyrgg5apfmtxxuvj34e

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMCID

3114386

1 reference

6 August 2017

1 reference