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Article

MTMR4 SNVs modulate ion channel degradation and clinical severity in congenital long QT syndrome: insights in the mechanism of action of protective modifier genes.

Cardiovascular research - 22 Feb 2021

Lee Yee-Ki, Sala Luca, Mura Manuela, Rocchetti Marcella, Pedrazzini Matteo, Ran Xinru, Mak Timothy S H, Crotti Lia, Sham Pak C, Torre Eleonora, Zaza Antonio, Schwartz Peter J, Tse Hung-Fat, Gnecchi Massimiliano

Abstract excerpt

AIMS: In long QT syndrome (LQTS) patients, modifier genes modulate the arrhythmic risk associated with a disease-causing mutation. Their recognition can improve risk stratification and clinical management, but their discovery represents a challenge. We tested whether a cellular-driven approach could help to identify new modifier genes and especially their mechanism of action. METHODS AND RESULTS: We generated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32173736
DOI: 10.1093/cvr/cvaa019
PMCID: PMC7898949

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.

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