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- Title
Molecular Function and Contribution of in Development and Disease.
- Authors
Karolak, Justyna A.; Welch, Carrie L.; Mosimann, Christian; Bzdęga, Katarzyna; West, James D.; Montani, David; Eyries, Mélanie; Mullen, Mary P.; Abman, Steven H.; Prapa, Matina; Gräf, Stefan; Morrell, Nicholas W.; Hemnes, Anna R.; Perros, Frédéric; Hamid, Rizwan; Logan, Malcolm P. O.; Whitsett, Jeffrey; Galambos, Csaba; Stankiewicz, Paweł; Chung, Wendy K.
- Abstract
Over the past decade recognition of the profound impact of the T-box 4 (TBX4) gene, which encodes a member of the evolutionarily conserved family of T-box-containing transcription factors, upon respiratory diseases has emerged. The developmental importance of TBX4 is emphasized by the association of TBX4 variants with congenital disorders involving respiratory and skeletal structures; however, the exact role of TBX4 in human development remains incompletely understood. Here, we discuss the developmental, tissue-specific, and pathological TBX4 functions identified through human and animal studies and review the published TBX4 variants resulting in variable disease phenotypes. We also outline future research directions to fill the gaps in our understanding of TBX4 function and of how TBX4 disruption impacts development.
- Subjects
CONGENITAL disorders; RESPIRATORY diseases; PULMONARY arterial hypertension; TRANSCRIPTION factors; ARCHAEOLOGICAL human remains
- Publication
American Journal of Respiratory & Critical Care Medicine, 2023, Vol 207, Issue 7, p855
- ISSN
1073-449X
- Publication type
Article
- DOI
10.1164/rccm.202206-1039TR