Modeling Human TBX5 Haploinsufficiency Predicts Regulatory Networks for Congenital Heart Disease.

doi:10.1016/j.devcel.2020.11.020

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Article

Modeling Human TBX5 Haploinsufficiency Predicts Regulatory Networks for Congenital Heart Disease.

Developmental cell - 8 Feb 2021

Kathiriya Irfan S, Rao Kavitha S, Iacono Giovanni, Devine W Patrick, Blair Andrew P, Hota Swetansu K, Lai Michael H, Garay Bayardo I, Thomas Reuben, Gong Henry Z, Wasson Lauren K, Goyal Piyush, Sukonnik Tatyana, Hu Kevin M, Akgun Gunes A, Bernard Laure D, Akerberg Brynn N, Gu Fei, Li Kai, Speir Matthew L, Haeussler Maximilian, Pu William T, Stuart Joshua M, Seidman Christine E, Seidman J G, Heyn Holger, Bruneau Benoit G

Abstract excerpt

Haploinsufficiency of transcriptional regulators causes human congenital heart disease (CHD); however, the underlying CHD gene regulatory network (GRN) imbalances are unknown. Here, we define transcriptional consequences of reduced dosage of the CHD transcription factor, TBX5, in individual cells during cardiomyocyte differentiation from human induced pluripotent stem cells (iPSCs). We discovered highly sensitive...

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Identifiers

PMID: 33321106
DOI: 10.1016/j.devcel.2020.11.020
PMCID: PMC7878434

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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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