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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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Clinical Investigation 2012
Témata:
Research Article
On-line přístup: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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