Lu H et al.Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease.Nat Genet 49:1025-1034 (2017).
Aguiari G et al.Novel role for polycystin-1 in modulating cell proliferation through calcium oscillations in kidney cells.Cell Prolif 41:554-73 (2008).
Xu C et al.Human ADPKD primary cyst epithelial cells with a novel, single codon deletion in the PKD1 gene exhibit defective ciliary polycystin localization and loss of flow-induced Ca2+ signaling.Am J Physiol Renal Physiol 292:F930-45 (2007).
Streets AJ et al.Functional analysis of PKD1 transgenic lines reveals a direct role for polycystin-1 in mediating cell-cell adhesion.J Am Soc Nephrol 14:1804-15 (2003).
Delmas P et al.Constitutive activation of G-proteins by polycystin-1 is antagonized by polycystin-2.J Biol Chem 277:11276-83 (2002).
Newby LJ et al.Identification, characterization, and localization of a novel kidney polycystin-1-polycystin-2 complex.J Biol Chem 277:20763-73 (2002).
Pritchard L et al.A human PKD1 transgene generates functional polycystin-1 in mice and is associated with a cystic phenotype.Hum Mol Genet 9:2617-27 (2000).
Ong AC et al.Polycystin-1 expression in PKD1, early-onset PKD1, and TSC2/PKD1 cystic tissue.Kidney Int 56:1324-33 (1999).
Ong AC et al.Coordinate expression of the autosomal dominant polycystic kidney disease proteins, polycystin-2 and polycystin-1, in normal and cystic tissue.Am J Pathol 154:1721-9 (1999).