Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Diabetes induced by gain-of-function mutations in the Kir6.1 subunit of the KATP channel.

The Journal of general physiology - 1 Jan 2017

Remedi Maria S, Friedman Jonathan B, Nichols Colin G

Abstract excerpt

Gain-of-function (GOF) mutations in the pore-forming (Kir6.2) and regulatory (SUR1) subunits of KATP channels have been identified as the most common cause of human neonatal diabetes mellitus. The critical effect of these mutations is confirmed in mice expressing Kir6.2-GOF mutations in pancreatic β cells. A second KATP channel pore-forming subunit, Kir6.1, was originally cloned from the pancreas. Although the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Insulin
Share to Diabetes Mellitus
Share to Insulin-Secreting Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Islets of Langerhans

Share to KATP Channels

Share to Mice, Transgenic

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 27956473
DOI: 10.1085/jgp.201611653
PMCID: PMC5217086

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Diabetes induced by gain-of-function mutations in the Kir6.1 subunit of the KATP channel.PMID 27956473Read ↗

Diverse roles of K(ATP) channels learned from Kir6.2 genetically engineered mice.Semantic proximity Read ↗

Expression of an activating mutation in the gene encoding the KATP channel subunit Kir6.2 in mouse pancreatic beta cells recapitulates neonatal diabetes.Semantic proximity Read ↗

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

Physiological and pathophysiological roles of ATP-sensitive K+ channels.Semantic proximity Read ↗

The C42R Mutation in the Kir6.2 (KCNJ11) Gene as a Cause of Transient Neonatal Diabetes, Childhood Diabetes, or Later-Onset, Apparently Type 2 Diabetes MellitusSemantic proximity Read ↗

Hypotension due to Kir6.1 gain-of-function in vascular smooth muscle.Semantic proximity Read ↗

SUR1-mutant iPS cell-derived islets recapitulate the pathophysiology of congenital hyperinsulinism.Semantic proximity Read ↗

Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinismSemantic proximity Read ↗

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

Phenotype of a transient neonatal diabetes point mutation (SUR1-R1183W) in miceSemantic proximity Read ↗

KATP Channel Mutations and Neonatal Diabetes.Semantic proximity Read ↗

A rare mutation in ABCC8/SUR1 leading to altered ATP-sensitive K+ channel activity and beta-cell glucose sensing is associated with type 2 diabetes in adults.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.