Limb Deformities, Congenital
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Mammalian genomes are organized into megabase-scale topologically associated domains (TADs). We demonstrate that disruption of… Expand Thalidomide Teratogenicity Target In the late 1950s and early 1960s, thalidomide was prescribed to pregnant women as a cure for… Expand Defects in cilia are associated with several human disorders, including Kartagener syndrome, polycystic kidney disease… Expand Exogenous retinoic acid (RA) induces marked effects on limb patterning, but the precise role of endogenous RA in this process has… Expand Unequivocal identification of the full composition of a gene is made difficult by the cryptic nature of regulatory elements… Expand Preaxial polydactyly (PPD) is a common limb malformation in human. A number of polydactylous mouse mutants indicate that… Expand The cardiac homeobox protein Nkx2-5 is essential in cardiac development, and mutations in Csx (which encodes Nkx2-5) cause… Expand The limb girdle and congenital muscular dystrophies (LGMD and CMD) are characterized by skeletal muscle weakness and dystrophic… Expand To better understand the role of TBX5, a T-box containing transcription factor in forelimb and heart development, we have studied… Expand Holt-Oram syndrome is characterized by upper limb malformations and cardiac septation defects. Here, we demonstrate that… Expand