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Genetic and functional analyses detect one pathological NFATC1 mutation in a Chinese tricuspid atresia family.
Molecular Genetics & Genomic Medicine ( IF 2 ) Pub Date : 2021-08-07 , DOI: 10.1002/mgg3.1771 Bojian Li 1 , Tingting Li 1 , Tian Pu 1 , Chunjie Liu 1 , Sun Chen 1 , Kun Sun 1 , Rang Xu 2
Molecular Genetics & Genomic Medicine ( IF 2 ) Pub Date : 2021-08-07 , DOI: 10.1002/mgg3.1771 Bojian Li 1 , Tingting Li 1 , Tian Pu 1 , Chunjie Liu 1 , Sun Chen 1 , Kun Sun 1 , Rang Xu 2
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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 maldevelopment, and is one of the most common types of congenital valve defects.
更新日期:2021-09-23