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

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

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.

Afiliación

Kunova Bosakova M; Department of Biology, Faculty of Medicine, Masaryk University, 62500 Brno, Czech Republic.
Varecha M; Department of Biology, Faculty of Medicine, Masaryk University, 62500 Brno, Czech Republic.
Hampl M; International Clinical Research Center, St. Anne's University Hospital, 65691 Brno, Czech Republic.
Duran I; Institute of Experimental Biology, Faculty of Sciences, Masaryk University, 62500 Brno, Czech Republic.
Nita A; Institute of Animal Physiology and Genetics, Czech Academy of Sciences, 60200 Brno, Czech Republic.
Buchtova M; Department of Orthopaedic Surgery, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA.
Dosedelova H; Department of Biology, Faculty of Medicine, Masaryk University, 62500 Brno, Czech Republic.
Machat R; Institute of Experimental Biology, Faculty of Sciences, Masaryk University, 62500 Brno, Czech Republic.
Xie Y; Institute of Animal Physiology and Genetics, Czech Academy of Sciences, 60200 Brno, Czech Republic.
Ni Z; Institute of Animal Physiology and Genetics, Czech Academy of Sciences, 60200 Brno, Czech Republic.
Martin JH; Institute of Experimental Biology, Faculty of Sciences, Masaryk University, 62500 Brno, Czech Republic.
Chen L; Institute of Animal Physiology and Genetics, Czech Academy of Sciences, 60200 Brno, Czech Republic.
Jansen G; Department of Rehabilitation Medicine, Third Military Medical University, Chongqing 400042, China.
Krakow D; Department of Rehabilitation Medicine, Third Military Medical University, Chongqing 400042, China.
Krejci P; Department of Orthopaedic Surgery, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA.

Hum Mol Genet ; 27(6): 1093-1105, 2018 03 15.

Article en En | MEDLINE | ID: mdl-29360984

Asunto(s)

Acondroplasia/fisiopatología; Receptor Tipo 3 de Factor de Crecimiento de Fibroblastos/metabolismo; Displasia Tanatofórica/fisiopatología; Acondroplasia/genética; Animales; Cartílago/metabolismo; Condrocitos/metabolismo; Cilios/patología; Cilios/fisiología; Ciliopatías/genética; Ciliopatías/fisiopatología; Factores de Crecimiento de Fibroblastos/metabolismo; Placa de Crecimiento/metabolismo; Humanos; Ratones; Células 3T3 NIH; Fenotipo; Cultivo Primario de Células; Receptor Tipo 3 de Factor de Crecimiento de Fibroblastos/genética; Transducción de Señal/fisiología; Displasia Tanatofórica/genética

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Acondroplasia / Displasia Tanatofórica / Receptor Tipo 3 de Factor de Crecimiento de Fibroblastos Tipo de estudio: Prognostic_studies Límite: Animals / Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: República Checa

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