Tbx20 controls the expression of the KCNH2 gene and of hERG channels.

doi:10.1073/pnas.1612383114

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Article

Tbx20 controls the expression of the KCNH2 gene and of hERG channels.

Proceedings of the National Academy of Sciences of the United States of America - 17 Jan 2017

Caballero Ricardo, Utrilla Raquel G, Amorós Irene, Matamoros Marcos, Pérez-Hernández Marta, Tinaquero David, Alfayate Silvia, Nieto-Marín Paloma, Guerrero-Serna Guadalupe, Liu Qing-Hua, Ramos-Mondragón Roberto, Ponce-Balbuena Daniela, Herron Todd, Campbell Katherine F, Filgueiras-Rama David, Peinado Rafael, López-Sendón José L, Jalife José, Delpón Eva, Tamargo Juan

Abstract excerpt

Long QT syndrome (LQTS) exhibits great phenotype variability among family members carrying the same mutation, which can be partially attributed to genetic factors. We functionally analyzed the KCNH2 (encoding for Kv11.1 or hERG channels) and TBX20 (encoding for the transcription factor Tbx20) variants found by next-generation sequencing in two siblings with LQTS in a Spanish family of African ancestry. Affected...

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Identifiers

PMID: 28049825
DOI: 10.1073/pnas.1612383114
PMCID: PMC5255604

Genes

KCNH2
TBX20

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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