Molecular Function and Contribution of TBX4 in Development and Disease.
Sign Up to like & getrecommendations! Published in 2022 at "American journal of respiratory and critical care medicine"
DOI: 10.1164/rccm.202206-1039tr
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… read more here.
Keywords: disease; development; molecular function; tbx4 ... See more keywords
The ever-expanding phenotypical spectrum of human TBX4 mutations: from toe to lung
Sign Up to like & getrecommendations! Published in 2019 at "European Respiratory Journal"
DOI: 10.1183/13993003.01504-2019
Abstract: Transcription factors of the T-box family are known to be involved in the regulation of embryonic developmental processes. T-box factor 4 (TBX4), one of its members first discovered in 1996, is expressed in a wide… read more here.
Keywords: tbx4; human tbx4; phenotypical spectrum; spectrum human ... See more keywords
Identification and Functional Evaluation of a Novel TBX4 Mutation Underlies Small Patella Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23042075
Abstract: Small patella syndrome (SPS) is a rare autosomal dominant disorder caused by mutations in TBX4 gene which encodes a transcription factor of FGF10. However, how TBX4 mutations result in SPS is poorly understood. Here, a… read more here.
Keywords: tbx4; novel tbx4; small patella; patella syndrome ... See more keywords