nphp1

Summary

Gene Symbol: nphp1
Description: nephronophthisis 1
Alias: im:7162391, wu:fi59g07, zgc:152930, nephrocystin-1, nephrocystin
Species: zebrafish
Products:     nphp1

Top Publications

  1. Slanchev K, Pütz M, Schmitt A, Kramer Zucker A, Walz G. Nephrocystin-4 is required for pronephric duct-dependent cloaca formation in zebrafish. Hum Mol Genet. 2011;20:3119-28 pubmed publisher
    ..The NPHP4 gene product nephrocystin-4 interacts with other nephrocystins, cytoskeletal and ciliary proteins; however, the molecular and cellular ..
  2. Lindstrand A, Davis E, Carvalho C, Pehlivan D, Willer J, Tsai I, et al. Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. Am J Hum Genet. 2014;94:745-54 pubmed publisher
    Homozygosity for a recurrent 290 kb deletion of NPHP1 is the most frequent cause of isolated nephronophthisis (NPHP) in humans...
  3. Lindstrand A, Frangakis S, Carvalho C, Richardson E, McFadden K, Willer J, et al. Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. Am J Hum Genet. 2016;99:318-36 pubmed publisher
    ..5%), including 13 different deletions in eight BBS genes (BBS1, BBS2, ARL6/BBS3, BBS4, BBS5, BBS7, BBS9, and NPHP1) and a deletion and a duplication in other ciliopathy-associated genes (ALMS1 and NPHP4, respectively)...