Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

Joubert syndrome (JBTS) is characterized by a specific brain malformation with various additional pathologies. It results from mutations in any one of at least 10 different genes, including NPHP1, which encodes nephrocystin-1. JBTS has been linked to dysfunction of primary cilia, since the gene prod...

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Autori principali: Dafinger, Claudia, Liebau, Max Christoph, Elsayed, Solaf Mohamed, Hellenbroich, Yorck, Boltshauser, Eugen, Korenke, Georg Christoph, Fabretti, Francesca, Janecke, Andreas Robert, Ebermann, Inga, Nürnberg, Gudrun, Nürnberg, Peter, Zentgraf, Hanswalter, Koerber, Friederike, Addicks, Klaus, Elsobky, Ezzat, Benzing, Thomas, Schermer, Bernhard, Bolz, Hanno Jörn
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Clinical Investigation 2011
Soggetti:
Brief Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3223820/
https://ncbi.nlm.nih.gov/pubmed/21633164
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI43639
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