Article
Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies.
Human molecular genetics - 15 Apr 2012
Ashe Alyson, Butterfield Natalie C, Town Liam, Courtney Andrew D, Cooper Ashley N, Ferguson Charles, Barry Rachael, Olsson Fredrik, Liem Karel F, Parton Robert G, Wainwright Brandon J, Anderson Kathryn V, Whitelaw Emma, Wicking Carol
Abstract excerpt
Mutations in components of the intraflagellar transport (IFT) machinery required for assembly and function of the primary cilium cause a subset of human ciliopathies characterized primarily by skeletal dysplasia. Recently, mutations in the IFT-A gene IFT144 have been described in patients with Sensenbrenner and Jeune syndromes, which are associated with short ribs and limbs, polydactyly and craniofacial defects....
Topics
- Abnormalities, Multiple
- Animals
- Chromosome Mapping
- Cilia
- Craniofacial Abnormalities
- Cytoskeletal Proteins
- Embryo, Mammalian
- Fibroblast Growth Factors
- Forelimb
- Hedgehog Proteins