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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:J Clin Invest
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Clinical Investigation 2020
Témata:
Research Article
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky