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Article

Electrophysiology of Human iPSC-derived Vascular Smooth Muscle Cells and Cell-autonomous Consequences of Cantú Syndrome Mutations.

Function (Oxford, England) - 10 Sept 2024

Hanson Alex, McClenaghan Conor, Weng Kuo-Chan, Colijn Sarah, Stratman Amber N, Halabi Carmen M, Grange Dorothy K, Silva Jonathan R, Nichols Colin G

Abstract excerpt

Cantú syndrome (CS), a multisystem disease with a complex cardiovascular phenotype, is caused by gain-of-function (GoF) variants in the Kir6.1/SUR2 subunits of ATP-sensitive potassium (KATP) channels and is characterized by low systemic vascular resistance, as well as tortuous, dilated, vessels, and decreased pulse-wave velocity. Thus, CS vascular dysfunction is multifactorial, with both hypomyotonic and...

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Identifiers

PMID: 38984978
DOI: 10.1093/function/zqae027
PMCID: PMC11388097

Genes

CS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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