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Article

Prioritizing cardiovascular disease-associated variants altering NKX2-5 and TBX5 binding through an integrative computational approach.

The Journal of biological chemistry - 1 Dec 2023

Peña-Martínez Edwin G, Pomales-Matos Diego A, Rivera-Madera Alejandro, Messon-Bird Jean L, Medina-Feliciano Joshua G, Sanabria-Alberto Leandro, Barreiro-Rosario Adriana C, Rivera-Del Valle Jeancarlos, Rodríguez-Ríos Jessica M, Rodríguez-Martínez José A

Abstract excerpt

Cardiovascular diseases (CVDs) are the leading cause of death worldwide and are heavily influenced by genetic factors. Genome-wide association studies have mapped >90% of CVD-associated variants within the noncoding genome, which can alter the function of regulatory proteins, such as transcription factors (TFs). However, due to the overwhelming number of single-nucleotide polymorphisms (SNPs) (>500,000) in...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genome-Wide Association Study

Share to Homeobox Protein Nkx-2.5

Share to Myocytes, Cardiac

Share to Polymorphism, Single Nucleotide

Share to Regulatory Sequences, Nucleic Acid

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Source

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Identifiers

PMID: 37926287
DOI: 10.1016/j.jbc.2023.105423
PMCID: PMC10750078

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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