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Article

Genetic and functional analyses detect one pathological NFATC1 mutation in a Chinese tricuspid atresia family.

Molecular genetics & genomic medicine - 1 Sept 2021

Li Bojian, Li Tingting, Pu Tian, Liu Chunjie, Chen Sun, Sun Kun, Xu Rang

Abstract excerpt

BACKGROUND: Cardiac valvulogenesis is a highly conserved process among vertebrates and cause unidirectional flow of blood in the heart. It was precisely regulated by signal pathways such as VEGF, NOTCH, and WNT and transcriptional factors such as TWIST1, TBX20, NFATC1, and SOX9. Tricuspid atresia refers to morphological deficiency of the valve and confined right atrioventricular traffic due to tricuspid...

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Identifiers

PMID: 34363434
DOI: 10.1002/mgg3.1771
PMCID: PMC8457709

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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.

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