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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.
Xu C, Rossetti S, Jiang L, Harris PC, Brown-Glaberman U, Wandinger-Ness A, Bacallao R, Alper SL. Xu C, et al. Among authors: harris pc. Am J Physiol Renal Physiol. 2007 Mar;292(3):F930-45. doi: 10.1152/ajprenal.00285.2006. Epub 2006 Nov 7. Am J Physiol Renal Physiol. 2007. PMID: 17090781 Free PMC article.
Analysis of published PKD1 gene sequence variants.
Gout AM; ADPKD Gene Variant Consortium; Ravine D, Harris PC, Rossetti S, Peters D, Breuning M, Henske EP, Koizumi A, Inoue S, Shimizu Y, Thongnoppakhun W, Yenchitsomanus PT, Deltas C, Sandford R, Torra R, Turco AE, Jeffery S, Fontes M, Somlo S, Furu LM, Smulders YM, Mercier B, Ferec C, Burtey S, Pei Y, Kalaydjieva L, Bogdanova N, McCluskey M, Geon LJ, Wouters CH, Reiterova J, Stekrová J, San Millan JL, Aguiari G, Del Senno L. Gout AM, et al. Among authors: harris pc. Nat Genet. 2007 Apr;39(4):427-8. doi: 10.1038/ng0407-427. Nat Genet. 2007. PMID: 17392796 Review. No abstract available.
389 results