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References

These sources were used to develop the Genetics Home Reference gene summary on the PKD1 gene.

Al-Bhalal L, Akhtar M. Molecular basis of autosomal dominant polycystic kidney disease. Adv Anat Pathol. 2005 May;12(3):126-33. Review. PubMed citation
Bissler JJ, Dixon BP. A mechanistic approach to inherited polycystic kidney disease. Pediatr Nephrol. 2005 May;20(5):558-66. Epub 2005 Feb 18. Review. PubMed citation
Boucher C, Sandford R. Autosomal dominant polycystic kidney disease (ADPKD, MIM 173900, PKD1 and PKD2 genes, protein products known as polycystin-1 and polycystin-2). Eur J Hum Genet. 2004 May;12(5):347-54. Review. PubMed citation
Entrez Gene
Gene Review: Polycystic Kidney Disease, Autosomal Dominant
Horie S. ADPKD: molecular characterization and quest for treatment. Clin Exp Nephrol. 2005 Dec;9(4):282-91. Review. PubMed citation
Lina F, Satlinb LM. Polycystic kidney disease: the cilium as a common pathway in cystogenesis. Curr Opin Pediatr. 2004 Apr;16(2):171-6. Review. PubMed citation
Nauli SM, Alenghat FJ, Luo Y, Williams E, Vassilev P, Li X, Elia AE, Lu W, Brown EM, Quinn SJ, Ingber DE, Zhou J. Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells. Nat Genet. 2003 Feb;33(2):129-37. Epub 2003 Jan 6. PubMed citation
Nauli SM, Rossetti S, Kolb RJ, Alenghat FJ, Consugar MB, Harris PC, Ingber DE, Loghman-Adham M, Zhou J. Loss of polycystin-1 in human cyst-lining epithelia leads to ciliary dysfunction. J Am Soc Nephrol. 2006 Apr;17(4):1015-25. PubMed citation
Ong AC, Harris PC. Molecular pathogenesis of ADPKD: the polycystin complex gets complex. Kidney Int. 2005 Apr;67(4):1234-47. PubMed citation
Scriver, Charles R; The metabolic & molecular bases of inherited disease; 8th ed.; New York : McGraw-Hill, c2001. p5467-5489.
Wilson PD. Polycystic kidney disease. N Engl J Med. 2004 Jan 8;350(2):151-64. Review. PubMed citation