NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development

Nephronophthisis (NPHP) is an autosomal recessive kidney disease that is often associated with vision and/or brain defects. To date, 11 genes are known to cause NPHP. The gene products, while structurally unrelated, all localize to cilia or centrosomes. Although mouse models of NPHP are available fo...

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Bibliografiske detaljer
Main Authors: Won, Jungyeon, de Evsikova, Caralina Marín, Smith, Richard S., Hicks, Wanda L., Edwards, Malia M., Longo-Guess, Chantal, Li, Tiansen, Naggert, Jürgen K., Nishina, Patsy M.
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2011
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Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3016909/
https://ncbi.nlm.nih.gov/pubmed/21078623
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddq494
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