TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)

Joubert syndrome (JBTS) is a severe recessive neurodevelopmental ciliopathy which can affect several organ systems. Mutations in known JBTS genes account for approximately half of the cases. By homozygosity mapping and whole-exome sequencing, we identified a novel locus, JBTS23, with a homozygous sp...

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Detalles Bibliográficos
Autores principales: Stephen, Louise A, Tawamie, Hasan, Davis, Gemma M, Tebbe, Lars, Nürnberg, Peter, Nürnberg, Gudrun, Thiele, Holger, Thoenes, Michaela, Boltshauser, Eugen, Uebe, Steffen, Rompel, Oliver, Reis, André, Ekici, Arif B, McTeir, Lynn, Fraser, Amy M, Hall, Emma A, Mill, Pleasantine, Daudet, Nicolas, Cross, Courtney, Wolfrum, Uwe, Jamra, Rami Abou, Davey, Megan G, Bolz, Hanno J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2015
Materias:
Developmental Biology and Stem Cells
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4641851/
https://www.ncbi.nlm.nih.gov/pubmed/26386247
http://dx.doi.org/10.7554/eLife.08077

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4641851/
https://www.ncbi.nlm.nih.gov/pubmed/26386247
http://dx.doi.org/10.7554/eLife.08077

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