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

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities – Support for the role of K(ATP) channels in this condition

28 Oct 2013

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Cardiac electrophysiology and arrhythmias
Share to Cardiac Ischemia and Reperfusion

Source

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Identifiers

PMID: 24176758
DOI: 10.1016/j.ejmg.2013.09.009

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 18 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities – Support for the role of K(ATP) channels in this conditionPMID 24176758Read ↗

Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.Semantic proximity Read ↗

A new type of ATP-sensitive potassium channelopathy : Cantú syndrome.Semantic proximity Read ↗

Kir6.1 and SUR2B in Cantú syndromeSemantic proximity Read ↗

Cantú syndrome resulting from activating mutation in the KCNJ8 gene.Semantic proximity Read ↗

Cantú Syndrome: A Poorly Understood Multi-Organ Disorder.Semantic proximity Read ↗

A novel ABCC9 variant in a Greek family with Cantu syndrome affecting multiple generations highlights the functional role of the SUR2B NBD1.Semantic proximity Read ↗

Consequences of SUR2[A478V] Mutation in Skeletal Muscle of Murine Model of Cantu Syndrome.Semantic proximity Read ↗

K<sub>ATP</sub>Channels and Cardiovascular DiseaseSemantic proximity Read ↗

Cantu syndrome-associated SUR2 ( <i>ABCC9</i> ) mutations in distinct structural domains result in K <sub>ATP</sub> channel gain-of-function by differential mechanismsSemantic proximity Read ↗

KID syndrome in a Malaysian child with identification of novel heterozygous missense mutation GJB2 c.581T>A(p. 194Phe>Tyr).Semantic proximity Read ↗

Cantu syndrome–associated SUR2 (ABCC9) mutations in distinct structural domains result in KATP channel gain-of-function by differential mechanismsSemantic proximity Read ↗

Dominant missense mutations in ABCC9 cause Cantú syndrome.Semantic proximity Read ↗

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