title: T-box genes and congenital heart/limb malformations.
abstract: Congenital malformations cause significant morbidity and mortality; however, the underlying basis for many of these developmental defects is not well understood. Over the past years, a new family of genes called T-box genes has been identified that play essential roles during the development of various tissues and organs. A number of developmental syndromes have recently been shown to be linked to mutations in T-box genes, and brought direct medical relevance to their study. This review emphasizes emerging data on the molecular, cell, and disease levels, which establish a basis for parallel events in limb and heart development, and suggests that common regulatory pathways are crucial for proper differentiation and growth of these embryonic structures.
authors.affiliation: Department of Pediatrics, Northwestern University, Feinberg School of Medicine, Children's Memorial Institute for Education and Research, Chicago, IL60614, USA.
authors.forename: D
authors.initials: D
authors.lastname: Isphording
authors.forename: A M
authors.initials: AM
authors.lastname: Leylek
authors.forename: J
authors.initials: J
authors.lastname: Yeung
authors.forename: A
authors.initials: A
authors.lastname: Mischel
authors.forename: H-G
authors.initials: HG
authors.lastname: Simon
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D018507:Gene Expression Regulation, Developmental; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics*; D008969:Molecular Sequence Data; D017386:Sequence Homology, Amino Acid; D020825:T-Box Domain Proteins / Q000235:genetics*
chemical_list: D020825:T-Box Domain Proteins