Article
Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies.
Human molecular genetics - 15 Mar 2018
Kunova Bosakova Michaela, Varecha Miroslav, Hampl Marek, Duran Ivan, Nita Alexandru, Buchtova Marcela, Dosedelova Hana, Machat Radek, Xie Yangli, Ni Zhenhong, Martin Jorge H, Chen Lin, Jansen Gert, Krakow Deborah, Krejci Pavel
Abstract excerpt
Cilia project from almost every cell integrating extracellular cues with signaling pathways. Constitutive activation of FGFR3 signaling produces the skeletal disorders achondroplasia (ACH) and thanatophoric dysplasia (TD), but many of the molecular mechanisms underlying these phenotypes remain unresolved. Here, we report in vivo evidence for significantly shortened primary cilia in ACH and TD cartilage growth...
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