title: T-Box Genes in Human Development and Disease.
abstract: T-box genes are important development regulators in vertebrates with specific patterns of expression and precise roles during embryogenesis. They encode transcription factors that regulate gene transcription, often in the early stages of development. The hallmark of this family of proteins is the presence of a conserved DNA binding motif, the "T-domain." Mutations in T-box genes can cause developmental disorders in humans, mostly due to functional deficiency of the relevant proteins. Recent studies have also highlighted the role of some T-box genes in cancer and in cardiomyopathy, extending their role in human disease. In this review, we focus on ten T-box genes with a special emphasis on their roles in human disease.
authors.affiliation: School of Life Sciences, Queens Medical Centre, University of Nottingham, Nottingham, United Kingdom.
authors.forename: T K
authors.initials: TK
authors.lastname: Ghosh
authors.affiliation: School of Life Sciences, Queens Medical Centre, University of Nottingham, Nottingham, United Kingdom. Electronic address: david.brook@nottingham.ac.uk.
authors.forename: J D
authors.initials: JD
authors.lastname: Brook
authors.affiliation: School of Life Sciences, Queens Medical Centre, University of Nottingham, Nottingham, United Kingdom. Electronic address: anna.wilsdon@nottingham.ac.uk.
authors.forename: A
authors.initials: A
authors.lastname: Wilsdon
mesh_terms: D000818:Animals; D004194:Disease; D047108:Embryonic Development / Q000235:genetics*; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D009154:Mutation / Q000235:genetics; D020825:T-Box Domain Proteins / Q000235:genetics* / Q000378:metabolism
chemical_list: D020825:T-Box Domain Proteins
keywords: Congenital disorders; Developmental regulators; Mutations; T-box genes; Transcription factors