Mapping the Nephronophthisis-Joubert-Meckel-Gruber Protein Network Reveals Ciliopathy Disease Genes and Pathways

Nephronophthisis (NPHP), Joubert (JBTS) and Meckel-Gruber (MKS) syndromes are autosomal-recessive ciliopathies presenting with cystic kidneys, retinal degeneration, and cerebellar/neural tube malformation. Whether defects in kidney, retinal, or neural disease primarily involve ciliary, Hedgehog, or...

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Autori principali: Sang, Liyun, Miller, Julie J., Corbit, Kevin C., Giles, Rachel H., Brauer, Matthew J., Otto, Edgar A., Baye, Lisa M., Wen, Xiaohui, Scales, Suzie J., Kwong, Mandy, Huntzicker, Erik G., Sfakianos, Mindan K., Sandoval, Wendy, Bazan, J. Fernando, Kulkarni, Priya, Garcia-Gonzalo, Francesc R., Seol, Allen D., O'Toole, John F., Held, Susanne, Reutter, Heiko M., Lane, William S., Rafiq, Muhammad Arshad, Noor, Abdul, Ansar, Muhammad, Devi, Akella Radha Rama, Sheffield, Val C., Slusarski, Diane C., Vincent, John B., Doherty, Daniel A., Hildebrandt, Friedhelm, Reiter, Jeremy F., Jackson, Peter K.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2011
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3383065/
https://ncbi.nlm.nih.gov/pubmed/21565611
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cell.2011.04.019
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