Article
NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development.
Human molecular genetics - 1 Feb 2011
Won Jungyeon, Marín de Evsikova Caralina, Smith Richard S, Hicks Wanda L, Edwards Malia M, Longo-Guess Chantal, Li Tiansen, Naggert Jürgen K, Nishina Patsy M
Abstract excerpt
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 for 9 of the 11 genes, none has been described for nephronophthisis 4 (Nphp4). Here we report a novel, chemically...
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