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

Mice expressing a human K(ATP) channel mutation have altered channel ATP sensitivity but no cardiac abnormalities.

Diabetologia - 1 Apr 2012

Clark R, Männikkö R, Stuckey D J, Iberl M, Clarke K, Ashcroft F M

Abstract excerpt

AIMS/HYPOTHESIS: Patients with severe gain-of-function mutations in the Kir6.2 subunit of the ATP-sensitive potassium (K(ATP)) channel, have neonatal diabetes, muscle hypotonia and mental and motor developmental delay-a condition known as iDEND syndrome. However, despite the fact that Kir6.2 forms the pore of the cardiac K(ATP) channel, patients show no obvious cardiac symptoms. The aim of this project was to use...

Read the complete abstract on PubMed

Topics

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

Share to Adenosine Triphosphate
Share to Heart
Share to Mice

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Myocytes, Cardiac

Share to Potassium Channels, Inwardly Rectifying

Source

Open in PubMed Open full text

Identifiers

PMID: 22252471
DOI: 10.1007/s00125-011-2428-6
PMCID: PMC3296019

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mice expressing a human K(ATP) channel mutation have altered channel ATP sensitivity but no cardiac abnormalities.PMID 22252471Read ↗

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

Tolerance for ATP-insensitive K(ATP) channels in transgenic mice.Semantic proximity Read ↗

Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features.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 ↗

Functional roles of cardiac and vascular ATP-sensitive potassium channels clarified by Kir6.2-knockout mice.Semantic proximity Read ↗

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

Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects.Semantic proximity Read ↗

Focus on Kir6.2: a key component of the ATP-sensitive potassium channel.Semantic proximity Read ↗

Muscle KATP channels: recent insights to energy sensing and myoprotection.Semantic proximity Read ↗

Kir6.2 mutations associated with neonatal diabetes reduce expression of ATP-sensitive K+ channels: implications in disease mechanism and sulfonylurea therapy.Semantic proximity Read ↗

Of mice and men: K(ATP) channels and insulin secretion.Semantic proximity Read ↗

Molecular biology of K(ATP) channels and implications for health and disease.Semantic proximity Read ↗

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