Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization

Arthrogryposis, renal dysfunction and cholestasis syndrome (ARC) is a multisystem disorder associated with abnormalities in polarized liver and kidney cells. Mutations in VPS33B account for most cases of ARC. We identified mutations in VIPAR (also called C14ORF133) in individuals with ARC without VP...

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Vydáno v:Nat Genet
Hlavní autoři: Cullinane, Andrew R, Straatman-Iwanowska, Anna, Zaucker, Andreas, Wakabayashi, Yoshiyuki, Bruce, Christopher K, Luo, Guanmei, Rahman, Fatimah, Gürakan, Figen, Utine, Eda, Özkan, Tanju B, Denecke, Jonas, Vukovic, Jurica, Di Rocco, Maja, Mandel, Hanna, Cangul, Hakan, Matthews, Randolph P, Thomas, Steve G, Rappoport, Joshua Z, Arias, Irwin M, Wolburg, Hartwig, Knisely, A S, Kelly, Deirdre A, Müller, Ferenc, Maher, Eamonn R, Gissen, Paul
Médium: Artigo
Jazyk:Inglês
Vydáno: 2010
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5308204/
https://ncbi.nlm.nih.gov/pubmed/20190753
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.538
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