Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome

Joubert syndrome (JBTS) is a recessive neurodevelopmental ciliopathy characterized by a pathognomonic hindbrain malformation. All known JBTS genes encode proteins involved in the structure or function of primary cilia, ubiquitous antenna-like organelles essential for cellular signal transduction. He...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:J Clin Invest
Main Authors: Latour, Brooke L., Van De Weghe, Julie C., Rusterholz, Tamara D.S., Letteboer, Stef J.F., Gomez, Arianna, Shaheen, Ranad, Gesemann, Matthias, Karamzade, Arezou, Asadollahi, Mostafa, Barroso-Gil, Miguel, Chitre, Manali, Grout, Megan E., van Reeuwijk, Jeroen, van Beersum, Sylvia E.C., Miller, Caitlin V., Dempsey, Jennifer C., Morsy, Heba, Bamshad, Michael J., Nickerson, Deborah A., Neuhauss, Stephan C.F., Boldt, Karsten, Ueffing, Marius, Keramatipour, Mohammad, Sayer, John A., Alkuraya, Fowzan S., Bachmann-Gagescu, Ruxandra, Roepman, Ronald, Doherty, Dan
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2020
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7410078/
https://ncbi.nlm.nih.gov/pubmed/32453716
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI131656
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados