(Q46964181)

English

Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period

scientific article published in November 2007

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17919176

Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period (English)

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17919176

object named as

S Ellard

5

0 references

author name string

A M Patch

1

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17919176

S E Flanagan

2

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17919176

C Boustred

3

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17919176

A T Hattersley

4

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17919176

publication date

1 November 2007

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17919176

Diabetes, Obesity and Metabolism

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17919176

9 Suppl 2

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17919176

28-39

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17919176

Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1463-1326.2007.00772.X

21 January 2018

Relapsing diabetes can result from moderately activating mutations in KCNJ11.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1463-1326.2007.00772.X

21 January 2018

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes

1 reference

https://api.crossref.org/works/10.1111%2FJ.1463-1326.2007.00772.X

21 January 2018

KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1463-1326.2007.00772.X

21 January 2018

Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy

1 reference

https://api.crossref.org/works/10.1111%2FJ.1463-1326.2007.00772.X

21 January 2018

Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients

1 reference

https://api.crossref.org/works/10.1111%2FJ.1463-1326.2007.00772.X

21 January 2018

Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1463-1326.2007.00772.X

21 January 2018

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus

1 reference

https://api.crossref.org/works/10.1111%2FJ.1463-1326.2007.00772.X

21 January 2018

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes

1 reference

https://api.crossref.org/works/10.1111%2FJ.1463-1326.2007.00772.X

21 January 2018

Physiological and pathophysiological roles of ATP-sensitive K+ channels

1 reference

https://api.crossref.org/works/10.1111%2FJ.1463-1326.2007.00772.X

21 January 2018

Glucose induces closure of single potassium channels in isolated rat pancreatic beta-cells

1 reference

https://api.crossref.org/works/10.1111%2FJ.1463-1326.2007.00772.X

21 January 2018

Octameric stoichiometry of the KATP channel complex

1 reference

https://api.crossref.org/works/10.1111%2FJ.1463-1326.2007.00772.X

21 January 2018

Truncation of Kir6.2 produces ATP-sensitive K+ channels in the absence of the sulphonylurea receptor

1 reference

https://api.crossref.org/works/10.1111%2FJ.1463-1326.2007.00772.X

21 January 2018

Electrophysiology of the pancreatic beta-cell

1 reference

https://api.crossref.org/works/10.1111%2FJ.1463-1326.2007.00772.X

21 January 2018

Cooperative binding of ATP and MgADP in the sulfonylurea receptor is modulated by glibenclamide

1 reference

https://api.crossref.org/works/10.1111%2FJ.1463-1326.2007.00772.X

21 January 2018

ATP-sensitive K+ channels and insulin secretion: their role in health and disease.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1463-1326.2007.00772.X

21 January 2018

Membrane topology of human ABC proteins.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1463-1326.2007.00772.X

21 January 2018

The essential role of the Walker A motifs of SUR1 in K-ATP channel activation by Mg-ADP and diazoxide

1 reference

https://api.crossref.org/works/10.1111%2FJ.1463-1326.2007.00772.X

21 January 2018

Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism

1 reference

https://api.crossref.org/works/10.1111%2FJ.1463-1326.2007.00772.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1463-1326.2007.00772.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1463-1326.2007.00772.X

21 January 2018

Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity

1 reference

https://api.crossref.org/works/10.1111%2FJ.1463-1326.2007.00772.X

21 January 2018

Targeted Overactivity of β Cell KATP Channels Induces Profound Neonatal Diabetes

1 reference

https://api.crossref.org/works/10.1111%2FJ.1463-1326.2007.00772.X

21 January 2018

British 1990 growth reference centiles for weight, height, body mass index and head circumference fitted by maximum penalized likelihood

1 reference

https://api.crossref.org/works/10.1111%2FJ.1463-1326.2007.00772.X

21 January 2018

Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy

1 reference

https://api.crossref.org/works/10.1111%2FJ.1463-1326.2007.00772.X

21 January 2018

Mutations in the Kir6.2 subunit of the KATP channel and permanent neonatal diabetes: new insights and new treatment

1 reference

https://api.crossref.org/works/10.1111%2FJ.1463-1326.2007.00772.X

21 January 2018

Adenosine diphosphate as an intracellular regulator of insulin secretion.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1463-1326.2007.00772.X

21 January 2018

Subunit stoichiometry of the pancreatic β-cell ATP-sensitive K+ channel

1 reference

https://api.crossref.org/works/10.1111%2FJ.1463-1326.2007.00772.X

21 January 2018

Identifiers

10.1111/J.1463-1326.2007.00772.X

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17919176

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17919176

ResearchGate publication ID

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