CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies

Distinct mutations in the centrosomal-cilia protein CEP290 lead to diverse clinical findings in syndromic ciliopathies. We show that CEP290 localizes to the transition zone in ciliated cells, precisely to the region of Y-linkers between central microtubules and plasma membrane. To create models of C...

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Udgivet i:Hum Mol Genet
Main Authors: Rachel, Rivka A., Yamamoto, Erin A., Dewanjee, Mrinal K., May-Simera, Helen L., Sergeev, Yuri V., Hackett, Alice N., Pohida, Katherine, Munasinghe, Jeeva, Gotoh, Norimoto, Wickstead, Bill, Fariss, Robert N., Dong, Lijin, Li, Tiansen, Swaroop, Anand
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2015
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Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4459394/
https://ncbi.nlm.nih.gov/pubmed/25859007
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv123
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