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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Vydáno v:Hum Mol Genet
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2018
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On-line přístup: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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