Variants in a cis-regulatory element of TBX1 in conotruncal heart defect patients impair GATA6-mediated transactivation

Variants in a cis-regulatory element of TBX1 in conotruncal heart defect patients impair GATA6-mediated transactivation

Abstract Background TBX1 (T-box transcription factor 1) is a major candidate gene that likely contributes to the etiology of velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS). Although the haploinsufficiency of TBX1 in both mice and humans results in congenital cardiac malformations, little h...

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Bibliographic Details
Main Authors: Xuechao Jiang, Tingting Li, Sijie Liu, Qihua Fu, Fen Li, Sun Chen, Kun Sun, Rang Xu, Yuejuan Xu
Format: Article
Language:English
Published: BMC 2021-07-01
Series:Orphanet Journal of Rare Diseases
Subjects:
TBX1
GATA6
Cis-regulatory element
Transcription
Pharyngeal arches
Conotruncal defect
Online Access:https://doi.org/10.1186/s13023-021-01981-4

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