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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2011
Assuntos:
Brief Report
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados