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Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease.
Lu H, Galeano MCR, Ott E, Kaeslin G, Kausalya PJ, Kramer C, Ortiz-Brüchle N, Hilger N, Metzis V, Hiersche M, Tay SY, Tunningley R, Vij S, Courtney AD, Whittle B, Wühl E, Vester U, Hartleben B, Neuber S, Frank V, Little MH, Epting D, Papathanasiou P, Perkins AC, Wright GD, Hunziker W, Gee HY, Otto EA, Zerres K, Hildebrandt F, Roy S, Wicking C, Bergmann C. Lu H, et al. Among authors: roy s. Nat Genet. 2017 Jul;49(7):1025-1034. doi: 10.1038/ng.3871. Epub 2017 May 22. Nat Genet. 2017. PMID: 28530676 Free PMC article.
Multiciliated Cells: Rise and Fall of the Deuterosomes.
Rayamajhi D, Roy S. Rayamajhi D, et al. Among authors: roy s. Trends Cell Biol. 2020 Apr;30(4):259-262. doi: 10.1016/j.tcb.2020.02.003. Epub 2020 Feb 27. Trends Cell Biol. 2020. PMID: 32200804
Cilia: Organelles at the Heart of Heart Disease.
Narasimhan V, Roy S. Narasimhan V, et al. Among authors: roy s. Curr Biol. 2015 Jun 29;25(13):R559-62. doi: 10.1016/j.cub.2015.05.005. Curr Biol. 2015. PMID: 26126281 Free article.
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