Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies

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 unres...

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Publicado no:Hum Mol Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2018
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5886260/
https://ncbi.nlm.nih.gov/pubmed/29360984
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy031
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