Publication Date
4-1-2023
Journal
American Journal of Respiratory and Critical Care Medicine
DOI
10.1164/rccm.202206-1039TR
PMID
36367783
PMCID
PMC10111992
PubMedCentral® Posted Date
11-11-2022
PubMedCentral® Full Text Version
Post-print
Published Open-Access
yes
Keywords
Animals, Humans, T-Box Domain Proteins, Transcription Factors, Phenotype, pulmonary arterial hypertension, lethal lung developmental disorders, TBX4 syndrome
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.
Included in
Biological Phenomena, Cell Phenomena, and Immunity Commons, Biomedical Informatics Commons, Critical Care Commons, Emergency Medicine Commons, Genetics and Genomics Commons, Medical Genetics Commons, Medical Molecular Biology Commons