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

Cantú syndrome resulting from activating mutation in the KCNJ8 gene.

Human mutation - 1 Jul 2014

Cooper Paige E, Reutter Heiko, Woelfle Joachim, Engels Hartmut, Grange Dorothy K, van Haaften Gijs, van Bon Bregje W, Hoischen Alexander, Nichols Colin G

Abstract excerpt

ATP-sensitive potassium (KATP ) channels, composed of inward-rectifying potassium channel subunits (Kir6.1 and Kir6.2, encoded by KCNJ8 and KCNJ11, respectively) and regulatory sulfonylurea receptor (SUR1 and SUR2, encoded by ABCC8 and ABCC9, respectively), couple metabolism to excitability in multiple tissues. Mutations in ABCC9 cause Cantú syndrome (CS), a distinct multiorgan disease, potentially via enhanced...

Topics

Join the communities discussing this publication.

Cardiomegaly
Facies
Genetic Diseases, X-Linked
Hypertrichosis
KATP Channels

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Membrane Potentials

Mutation, Missense

Osteochondrodysplasias

Source

Open in PubMed Open full text

Identifiers

PMID: 24700710
DOI: 10.1002/humu.22555
PMCID: PMC4277879

Genes

ABCC9
KCNJ8
ABCC8
KCNJ11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cantú syndrome resulting from activating mutation in the KCNJ8 gene.PMID 24700710Read ↗

Cantú syndrome is caused by mutations in ABCC9.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 ↗

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

A Cantú syndrome mutation produces dual effects on KATP channels by disrupting ankyrin B regulation.Semantic proximity Read ↗

Kir6.1 and SUR2B in Cantú syndromeSemantic proximity Read ↗

Dominant missense mutations in ABCC9 cause Cantú syndrome.Semantic 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 ↗

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

ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9Semantic proximity Read ↗

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

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

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

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