Friday 12 October 2007
heterozygous loss-of-function mutations in GDF1 contribute to cardiac defects ranging from tetralogy of Fallot (ToF) to transposition of the great arteries (TGA)
- decreased TGFbeta signaling (TGFBs)
- perturbations of the TGFbeta signaling pathway (TGFBs) is involved in a major subclass of human cardiac malformations.
TGFbeta signaling pathway
cardiac malformations (congenital heart defects) (CHDs)
- left-right patterning could contribute to the pathogenesis of selected cardiac defects by interfering with the extrinsic cues leading to the proper looping and vessel remodeling of the normally asymmetrically developed heart and vessels.
Karkera JD, Lee JS, Roessler E, Banerjee-Basu S, Ouspenskaia MV, Mez J, Goldmuntz E, Bowers P, Towbin J, Belmont JW, Baxevanis AD, Schier AF, Muenke M. Loss-of-Function Mutations in Growth Differentiation Factor-1 (GDF1) Are Associated with Congenital Heart Defects in Humans. Am J Hum Genet. 2007 Nov;81(5):987-94. PMID: #17924340#