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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

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Cardiac electrophysiology and arrhythmias
Cardiac Ischemia and Reperfusion

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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

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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 ↗

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