Year: 2022
Type: article
Abstract: Over the past decade, recognition of the profound impact of the TBX4 (T-box 4) gene, which encodes a member of the evolutionarily conserved family of T-box–containing transcription factors, on 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 affects development.
Authors: Justyna A. Karolak, Carrie L. Welch, Christian Mosimann, Katarzyna Bzdęga, James D. West, David Montani, Mélanie Eyries, Mary P. Mullen, Steven H. Abman, Matina Prapa, Stefan Gräf, Nicholas W. Morrell, Anna R. Hemnes, Frédéric Perros, Rizwan Hamid, Malcolm P. O. Logan, Jeffrey Whitsett, Csaba Galambos, Paweł Stankiewicz, Wendy K. Chung, Eric D. Austin
Institutions: Poznan University of Medical Sciences, Inserm, Université Paris-Saclay, Assistance Publique – Hôpitaux de Paris, Bicêtre Hospital, Sorbonne Université, Pitié-Salpêtrière Hospital, Boston Children's Hospital, Harvard University, St George’s University Hospitals NHS Foundation Trust, University of Cambridge, Vanderbilt University Medical Center, King's College London, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Children's Hospital Colorado, University of Colorado Anschutz, University of Colorado Denver, Baylor College of Medicine, Columbia University Irving Medical Center
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W4308766293