Article
Sustained ERK1/2 but not STAT1 or 3 activation is required for thanatophoric dysplasia phenotypes in PC12 cells.
Human molecular genetics - 1 Jun 2005
Nowroozi Nakisa, Raffioni Simona, Wang Tracy, Apostol Barbara L, Bradshaw Ralph A, Thompson Leslie Michels
Abstract excerpt
Mutations in fibroblast growth factor receptor 3 (FGFR3) cause the most common genetic form of short-limbed dwarfism, achondroplasia (ACH), as well as neonatal lethal forms, thanatophoric dysplasia (TD) I and II. The causative mutations induce graded levels of constitutive activation of the receptor that correspond to the severity of the disorder, resulting in premature entry into hypertrophic differentiation and...
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