Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis

Cilia are highly specialized microtubule-based organelles that have pivotal roles in numerous biological processes, including transducing sensory signals. Defects in cilia biogenesis and transport cause pleiotropic human ciliopathies. Mutations in over 30 different genes can lead to cilia defects, a...

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Main Authors: Rachel, Rivka A., May-Simera, Helen L., Veleri, Shobi, Gotoh, Norimoto, Choi, Byung Yoon, Murga-Zamalloa, Carlos, McIntyre, Jeremy C., Marek, Jonah, Lopez, Irma, Hackett, Alice N., Brooks, Matthew, den Hollander, Anneke I., Beales, Philip L., Li, Tiansen, Jacobson, Samuel G., Sood, Raman, Martens, Jeffrey R., Liu, Paul, Friedman, Thomas B., Khanna, Hemant, Koenekoop, Robert K., Kelley, Matthew W., Swaroop, Anand
Formato: Artigo
Idioma:Inglês
Publicado: American Society for Clinical Investigation 2012
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Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3314468/
https://ncbi.nlm.nih.gov/pubmed/22446187
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI60981
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