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Article

Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome.

Nature - 10 Mar 2011

Yazawa Masayuki, Hsueh Brian, Jia Xiaolin, Pasca Anca M, Bernstein Jonathan A, Hallmayer Joachim, Dolmetsch Ricardo E

Abstract excerpt

Individuals with congenital or acquired prolongation of the QT interval, or long QT syndrome (LQTS), are at risk of life-threatening ventricular arrhythmia. LQTS is commonly genetic in origin but can also be caused or exacerbated by environmental factors. A missense mutation in the L-type calcium channel Ca(V)1.2 leads to LQTS in patients with Timothy syndrome. To explore the effect of the Timothy syndrome...

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Identifiers

PMID: 21307850
DOI: 10.1038/nature09855
PMCID: PMC3077925

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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.

Related research

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Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome.PMID 21307850Read ↗

Modeling Timothy syndrome with iPS cells.Semantic proximity Read ↗

Dual optical recordings for action potentials and calcium handling in induced pluripotent stem cell models of cardiac arrhythmias using genetically encoded fluorescent indicators.Semantic proximity Read ↗

Model for long QT syndrome type 2 using human iPS cells demonstrates arrhythmogenic characteristics in cell cultureSemantic proximity Read ↗

Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca2+-dependent inactivationSemantic proximity Read ↗

CaV1.2 channelopathic mutations evoke diverse pathophysiological mechanisms.Semantic proximity Read ↗

Current updates on arrhythmia within Timothy syndrome: genetics, mechanisms and therapeutics.Semantic proximity Read ↗

Proarrhythmic defects in Timothy syndrome require calmodulin kinase II.Semantic proximity Read ↗

In vitro modeling of ryanodine receptor 2 dysfunction using human induced pluripotent stem cells.Semantic proximity Read ↗

Ca <sub>V</sub> 1.2 channelopathic mutations evoke diverse pathophysiological mechanismsSemantic proximity Read ↗

Timothy syndrome iPSC modeling.Semantic proximity Read ↗

Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome.Semantic proximity Read ↗

Human Induced Pluripotent Stem Cell–Derived Cardiomyocytes as Models for Cardiac ChannelopathiesSemantic proximity Read ↗

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