Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies

Recent studies identified a previously uncharacterized gene C5ORF42 (JBTS17) as a major cause of Joubert syndrome (JBTS), a ciliopathy associated with cerebellar abnormalities and other birth defects. Here we report the first Jbts17 mutant mouse model, Heart Under Glass (Hug), recovered from a forwa...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Damerla, Rama Rao, Cui, Cheng, Gabriel, George C., Liu, Xiaoqin, Craige, Branch, Gibbs, Brian C., Francis, Richard, Li, You, Chatterjee, Bishwanath, San Agustin, Jovenal T., Eguether, Thibaut, Subramanian, Ramiah, Witman, George B., Michaud, Jacques L., Pazour, Gregory J., Lo, Cecilia W.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2015
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4476446/
https://ncbi.nlm.nih.gov/pubmed/25877302
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv137
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