A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies

Joubert syndrome (JBTS) is the archetypal ciliopathy caused by mutation of genes encoding ciliary proteins leading to multi-system phenotypes, including a cerebello-retinal-renal syndrome. JBTS is genetically heterogeneous, however mutations in CEP290 are a common underlying cause. The renal manifes...

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Detalles Bibliográficos
Autores principales: Srivastava, Shalabh, Ramsbottom, Simon A, Molinari, Elisa, Alkanderi, Sumaya, Filby, Andrew, White, Kathryn, Henry, Charline, Saunier, Sophie, Miles, Colin G, Sayer, John A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886250/
https://www.ncbi.nlm.nih.gov/pubmed/28973549
http://dx.doi.org/10.1093/hmg/ddx347

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