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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Veröffentlicht in:eLife
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: eLife Sciences Publications, Ltd 2015
Schlagworte:
Developmental Biology and Stem Cells
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4641851/
https://ncbi.nlm.nih.gov/pubmed/26386247
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7554/eLife.08077
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