Polycystic Kidney Disease

Genetic Diseases of the Kidney

Volumn , Issue , 2009, Pages 393-424

  Somlo, Stefan ^a   Guay Woodford, Lisa M ^b  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84882840385     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-0-12-449851-8.00024-3     Document Type: Chapter

References (368)

1. Adeva M, El-Youssef M, Rossetti S, et al. Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). Medicine (Baltimore) 2006, 85:1-21.
2. Aguiari G, Manzati E, Penolazzi L, et al. Mutations in autosomal dominant polycystic kidney disease 2 gene: Reduced expression of PKD2 protein in lymphoblastoid cells. Am. J. Kidney Dis. 1999, 33:880-885.
3. Ahringer J Control of cell polarity and mitotic spindle positioning in animal cells. Curr. Opin. Cell Biol. 2003, 15:73-81.
4. Alvaro D, Mancino MG, Onori P, et al. Estrogens and the pathophysiology of the biliary tree. World J. Gastroenterol. 2006, 12:3537-3545.
5. Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease gene (PKD1) predicts the presence of a leucine-rich repeat. Hum. Mol. Genet. 1995, 4:575-582. The American PKD1 Consortium.
6. Anyatonwu GI, Estrada M, Tian X, Somlo S, Ehrlich BE Regulation of ryanodine receptor-dependent calcium signaling by polycystin-2. Proc. Natl Acad. Sci. USA 2007, 104:6454-6459.
7. Badano JL, Mitsuma N, Beales PL, Katsanis N The ciliopathies: An emerging class of human genetic disorders. Annu. Rev. Genomics Hum. Genet. 2006, 7:125-148.
8. Badano JL, Teslovich TM, Katsanis N The centrosome in human genetic disease. Nat. Rev. Genet. 2005, 6:194-205.
9. Bae KT, Zhu F, Guay-Woodford LM, et al. Magnetic resonance imaging evaluation of hepatic cysts in early autosomal dominant polycystic kidney disease. Clin. J. Am. Soc. Nephrol. 2006, 1:64-69.
10. Baena-Lopez LA, Baonza A, Garcia-Bellido A The orientation of cell divisions determines the shape of Drosophila organs. Curr. Biol. 2005, 15:1640-1644.
11. Baert L Hereditary polycystic kidney disease (adult form): a microdissection study of two cases at an early stage of the disease. Kidney Int. 1978, 13:519-525.
12. Bai CX, Kim S, Li WP, Streets AJ, Ong AC, Tsiokas L Activation of TRPP2 through mDia1-dependent voltage gating. EMBO J. 2008, 27:1345-1356.
13. Bajwa ZH, Sial KA, Malik AB, Steinman TI Pain patterns in patients with polycystic kidney disease. Kidney Int. 2004, 66:1561-1569.
14. Barr MM, DeModena J, Braun D, Nguyen CQ, Hall DH, Sternberg PW The Caenorhabditis elegans autosomal dominant polycystic kidney disease gene homologs lov-1 and pkd-2 act in the same pathway. Curr. Biol. 2001, 11:1341-1346.
15. Barr MM, Sternberg PW A polycystic kidney disease gene homolog required for male mating behavior in Caenorhabiditis elegans. Nature 1999, 401:386-389.
16. Bateman A, Sandford R The PLAT domain: a new piece in the PKD1 puzzle. Curr. Biol. 1999, 9:R588-R590.
17. Belibi FA, Reif G, Wallace DP, et al. Cyclic AMP promotes growth and secretion in human polycystic kidney epithelial cells. Kidney Int. 2004, 66:964-973.
18. Bergmann C, Kupper F, Dornia C, et al. Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD). Hum. Mutat. 2005, 25:225-231.
19. Bergmann C, Senderek J, Sedlacek B, et al. Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). J. Am. Soc. Nephrol. 2003, 14:76-89.
20. Bergmann C, Senderek J, Windelen E, et al. members of the APN (Arbeitsgemeinschaft fur Padiatrische Nephrologie). Clinical consequences of PKHD1 mutations in 164 patients with autosomal recessive polycystic kidney disease (ARPKD). Kidney Int. 2005, 67:829-848.
21. Bernstein J, Slovis T Polycystic diseases of the kidney. Pediatric Kidney Disease 1992, 1139-1158. Little, Brown and Company, Boston, MA. C.M. Edelmann (Ed.).
22. Bhunia AK, Piontek K, Boletta A, et al. PKD1 induces p21(waf1) and regulation of the cell cycle via direct activation of the JAK-STAT signaling pathway in a process requiring PKD2. Cell 2002, 109:157-168.
23. Bisgrove BW, Yost HJ The roles of cilia in developmental disorders and disease. Development 2006, 133:4131-4143.
24. Blyth H, Ockenden BG Polycystic disease of kidneys and liver presenting in childhood. J. Med. Genet. 1971, 8:257-284.
25. Boca M, Distefano G, Qian F, Bhunia AK, Germino GG, Boletta A Polycystin-1 induces resistance to apoptosis through the phosphatidylinositol 3-kinase/Akt signaling pathway. J. Am. Soc. Nephrol. 2006, 17:637-647.
26. Boletta A, Qian F, Onuchic LF, et al. Polycystin-1, the gene product of PKD1, induces resistance to apoptosis and spontaneous tubulogenesis in MDCK cells. Mol. Cell 2000, 6:1267-1273.
27. Boletta A, Qian F, Onuchic LF, et al. Biochemical characterization of bona fide polycystin-1 in vitro and in vivo. Am. J. Kidney Dis. 2001, 38:1421-1429.
28. Brasier JL, Henske EP Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis. J. Clin. Invest. 1997, 99:194-199.
29. Brembeck FH, Rosario M, Birchmeier W Balancing cell adhesion and Wnt signaling, the key role of beta-catenin. Curr. Opin. Genet. Dev. 2006, 16:51-59.
30. Brill SR, Ross KE, Davidow CJ, Ye M, Grantham JJ, Caplan MJ Immunolocalization of ion transport proteins in human autosomal dominant polycystic kidney epithelial cells. Proc. Natl Acad. Sci. USA 1996, 93:10206-10211.
31. Brun M, Maugey-Laulom B, Eurin D, Didier F, Avni E Prenatal sonographic patterns in autosomal dominant polycystic kidney disease: a multicenter study. Ultrasound Obstet. Gynecol. 2004, 24:55-61.
32. Bukanov N, Smith LA, Klinger K, Ledbetter SR, Ibraghimov-Beskrovnaya O Long lasting arrest of murine polycystic kidney disease with CDK inhibitor R-Roscovitine. Nature 2006, 444:949-952.
33. Bycroft M, Bateman A, Clarke J, et al. The structure of a PKD domain from polycystin-1: implications for polycystic kidney disease. EMBO J. 1999, 18:297-305.
34. Cai Y, Anyatonwu G, Okuhara D, et al. Calcium dependence of polycystin-2 channel activity is modulated by phosphorylation at Ser812. J. Biol. Chem. 2004, 279:19987-19995.
35. Cai Y, Maeda Y, Cedzich A, et al. Identification and characterization of polycystin-2, the PKD2 gene product. J. Biol. Chem. 1999, 274:28557-28565.
36. Calvet JP, Grantham JJ The genetics and physiology of polycystic kidney disease. Semin. Nephrol. 2001, 21:107-123.
37. Chapman A, Guay-Woodford L, Grantham JJ, et al. Renal structure in early autosomal dominant polycystic kidney disease (ADPKD); the Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease (CRISP) Cohort. Kidney Int. 2003, 64:1035-1045.
38. Chaumoitre K, Brun M, Cassart M, et al. Differential diagnosis of fetal hyperechogenic cystic kidneys unrelated to renal tract anomalies: A multicenter study. Ultrasound Obstet. Gynecol. 2006, 28:911-917.
39. Chauvet V, Tian X, Husson H, et al. Mechanical stimuli induce cleavage and nuclear translocation of the polycystin-1 C terminus. J. Clin. Invest. 2004, 114:1433-1443.
40. Clausen P, Feldt-Rasmussen B, Iversen J, Lange M, Eidemak I, Strandgaard S Flow-associated dilatory capacity of the brachial artery is intact in early autosomal dominant polycystic kidney disease. Am. J. Nephrol. 2006, 26:335-339.
41. Corbit KC, Aanstad P, Singla V, Norman AR, Stainier DY, Reiter JF Vertebrate smoothened functions at the primary cilium. Nature 2005, 437:1018-1021.
42. D'Alessio C, Fernandez F, Trombetta ES, Parodi AJ Genetic evidence for the heterodimeric structure of glucosidase II. The effect of disrupting the subunit-encoding genes on glycoprotein folding. J. Biol. Chem. 1999, 274:25899-25905.
43. Davenport JR, Yoder BK An incredible decade for the primary cilium: a look at a once-forgotten organelle. Am. J. Physiol. Renal. Physiol. 2005, 289:1159-1169.
44. Davenport JR, Watts AJ, Roper VC, et al. Disruption of intraflagellar transport in adult mice leads to obesity and slow-onset cystic kidney disease. Curr. Biol. 2007, 17:1586-1594.
45. Davila S, Furu L, Gharavi AG, et al. Mutations in SEC63 cause autosomal dominant polycystic liver disease. Nat. Genet. 2004, 36:575-577.
46. Davis EE, Brueckner M, Katsanis N The emerging complexity of the vertebrate cilium: new functional roles for an ancient organelle. Dev. Cell 2006, 11:9-19.
47. Davis ID, Ho M, Hupertz V, Avner ED Survival of childhood polycystic kidney disease following renal transplantation: the impact of advanced hepatobiliary disease. Pediatr. Transplant. 2003, 7:364-369.
48. De Kerckhove L, De Meyer M, Verbaandert C, et al. The place of liver transplantation in Caroli's disease and syndrome. Transplant. Int. 2006, 19:381-388.
49. De Rycke M, Georgiou I, Sermon K, et al. PGD for autosomal dominant polycystic kidney disease type 1. Mol. Hum. Reprod. 2005, 11:65-71.
50. Deget F, Rudnik-Schoneborn S, Zerres K Course of autosomal recessive polycystic kidney disease (ARPKD) in siblings: a clinical comparison of 20 sibships. Clin. Genet. 1995, 47:248-253.
51. Delmas P Polycystins: polymodal receptor/ion-channel cellular sensors. Pflugers Arch. 2005, 451:264-276.
52. Delmas P, Nomura H, Li X, et al. Constitutive activation of G-proteins by polycystin-1 is antagonized by polycystin-2. J. Biol. Chem. 2002, 277:11276-11283.
53. Desmet V Pathogenesis of ductal plate abnormalities. Mayo Clin. Proc. 1998, 73:80-89.
54. Dobin A, Kimberling WJ, Pettinger W, Bailey-Wilson JE, Shugart YY, Gabow P Segregation analysis of autosomal dominant polycystic kidney disease. Genet. Epidemiol. 1993, 10:189-200.
55. Drenth JP, Te Morsche RH, Smink R, Bonifacino JS, Jansen JB Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease. Nat. Genet. 2003, 33:345-347.
56. Ecder T, Chapman A, Brosnahan G, Edelstein C, Johnson A, Schrier R Effect of antihypertensive therapy on renal function and urinary albumin excretion in hypertensive patients with autosomal dominant polycystic kidney disease. Am. J. Kid. Dis. 2000, 35:427-432.
57. Eley L, Turnpenny L, Yates LM, et al. A perspective on inversin. Cell Biol. Int. 2004, 28:119-124.
58. Ellgaard L, Molinari M, Helenius A Setting the standards: quality control in the secretory pathway. Science 1999, 286:1882-1888.
59. Elzinga LW, Bennett WM Miscellaneous renal and systemic complications of autosomal dominant polycystic kidney disease including infection. Polycystic Kidney Disease 1996, 483-499. Oxford Medical Publications, Oxford, UK. M.L. Watson, V.E. Torres (Eds.).
60. The polycystic kidney disease 1 gene encodes a 14kb transcript and lies within a duplicated region on chromosme 16. Cell 1994, 77:881-894. The European Polycystic Kidney Disease Consortium.
61. Fabris L, Cadamuro M, Fiorotto R, et al. Effects of angiogenic factor overexpression by human and rodent cholangiocytes in polycystic liver diseases. Hepatology 2006, 43:1001-1012.
62. Fain PR, McFann KK, Taylor MR, et al. Modifier genes play a significant role in the phenotypic expression of PKD1. Kidney Int. 2005, 67:1256-1267.
63. Favata MF, Horiuchi KY, Manos EJ, et al. Identification of a novel inhibitor of mitogen-activated protein kinase kinase. J. Biol. Chem. 1998, 273:18623-18632.
64. Fick GM, Johnson AM, Hammond WS, Gabow PA Causes of death in autosomal dominant polycystic kidney disease. J. Am. Soc. Nephrol. 1995, 5:2048-2056.
65. Fischer E, Legue E, Doyen A, et al. Defective planar cell polarity in polycystic kidney disease. Nat. Genet. 2006, 38:21-23.
66. Foggensteiner L, Bevan AP, Thomas R, et al. Cellular and subcellular distribution of polycystin-2, the protein product of the PKD2 gene. J. Am. Soc. Nephrol. 2000, 11:814-827.
67. Fonck C, Chauveau D, Gagnadoux M, Pirson Y, Grunfeld J Autosomal recessive polycystic kidney disease in adulthood. Nephrol. Dial. Transplant. 2001, 16:1648-1652.
68. Forman JR, Qamar S, Paci E, Sandford RN, Clarke J The remarkable mechanical strength of polycystin-1 supports a direct role in mechanotransduction. J. Mol. Biol. 2005, 349:861-871.
69. Furu L, Onuchic LF, Gharavi A, et al. Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations. J. Am. Soc. Nephrol. 2003, 14:2004-2014.
70. Gabow PA, Chapman AB, Johnson AM, et al. Renal structure and hypertension in autosomal dominant polycystic kidney disease. Kidney Int. 1990, 38:1177-1180.
71. Gabow P, Johnson A, Kaehny W, Manco-Johnson M, Duley I, Everson G Risk factors for the development of hepatic cysts in autosomal dominant polycystic kidney disease. Hepatology 1990, 11:1033-1037.
72. Gabow P, Johnson A, Kaehny W, et al. Factors affecting the progression of renal disease in autosomal-dominant polycystic kidney disease. Kidney Int. 1992, 41:1311-1319.
73. Gallagher AR, Cedzich A, Gretz N, Somlo S, Witzgall R The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton. Proc. Natl Acad. Sci. USA 2000, 97:4017-4022.
74. Gallagher AR, Esquivel EL, Briere TS, et al. Biliary and pancreatic dysgenesis in mice harboring a mutation in pkhd1. Am. J. Pathol. 2008, 172:417-429.
75. Gao Z, Joseph E, Ruden DM, Lu X Drosophila Pkd2 is haploid-insufficient for mediating optimal smooth muscle contractility. J. Biol. Chem. 2004, 279:14225-14231.
76. Gao Z, Ruden DM, Lu X PKD2 cation channel is required for directional sperm movement and male fertility. Curr. Biol. 2003, 13:2175-2178.
77. Garcia-Gonzalez MA, Menezes LF, Piontek KB, et al. Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway. Hum. Mol. Genet. 2007, 16:1940-1950.
78. Gattone VH, Maser RL, Tian C, Rosenberg JM, Branden MG Developmental expression of urine concentration-associated genes and their altered expression in murine infantile-type polycystic kidney disease. Develop. Genet. 1999, 24:309-318.
79. Gattone VH, Wang X, Harris PC, Torres VE Inhibition of renal cystic disease development and progression by a vasopressin V2 receptor antagonist. Nat. Med. 2003, 9:1323-1326.
80. Geberth St, Ritz E, Zeier M, Stier E Anticipation of age at renal death in autosomal dominant polycystic kidney disease (ADPKD)? Nephrol. Dial. Transplant. 1995, 10:1603-1606.
81. Geng L, Burrow CR, Li HP, Wilson PD Modification of the composition of polycystin-1 multiprotein complexes by calcium and tyrosine phosphorylation. Biochim. Biophys. Acta 2000, 1535:21-35.
82. Geng L, Okuhara D, Yu Z, et al. Polycystin-2 traffics to cilia independently of polycystin-1 by using an N-terminal RVxP motif. J. Cell Sci. 2006, 119:1383-1395.
83. Geng L, Segal Y, Pavlova A, et al. Distribution and developmentally regulated expression of murine polycystin. Am. J. Physiol. 1997, 272:F451-F459.
84. Geng L, Segal Y, Peissel B, et al. Identification and localization of polycystin, the PKD1 gene product. J. Clin. Invest. 1996, 98:2674-2682.
85. Germino GG Linking cilia to Wnts. Nat. Genet. 2005, 37:455-457.
86. Gigarel N, Frydman N, Burlet P, et al. Preimplantation genetic diagnosis for autosomal recessive polycystic kidney disease. Reprod. Biomed. Online 2008, 16:152-158.
87. Goilav B, Norton K, Satlin L, et al. Predominant extrahepatic biliary disease in autosomal recessive polycystic kidney disease: a new association. Pediatr Transplant 2006, 10:294-298.
88. Gong Y, Mo C, Fraser SE Planar cell polarity signalling controls cell division orientation during zebrafish gastrulation. Nature 2004, 430:689-693.
89. 2?+-permeable nonselective cation channel. PNAS 2001, 98:1182-1187.
90. Grampsas SA, Chandhoke PS, Fan J, et al. Anatomic and metabolic risk factors for nephrolithiasis in patients with autosomal dominant polycystic kidney disease. Am. J. Kidney Dis. 2000, 36:53-57.
91. Grantham JJ Time to treat polycystic kidney diseases like the neoplastic disorders that they are. Kidney Int. 2000, 57:339-340.
92. Grantham JJ, Chapman AB, Torres VE Volume progression in autosomal dominant polycystic kidney disease: The major factor determining clinical outcomes. Clin. J. Am. Soc. Nephrol. 2006, 1:148-157.
93. Grantham JJ, Torres VE, Chapman AB, et al. Volume progression in polycystic kidney disease. N. Engl. J. Med. 2006, 354:2122-2130.
94. Gresh L, Fischer E, Reimann A, et al. A transcriptional network in polycystic kidney disease. EMBO J. 2004, 23:1657-1668.
95. Grimm DH, Cai Y, Chauvet V, et al. Polycystin-1 distribution is modulated by polycystin-2 expression in mammalian cells. J. Biol. Chem. 2003, 278:36786-36793.
96. Grimm DH, Karihaloo A, Cai Y, Somlo S, Cantley LG, Caplan MJ Polycystin-2 regulates proliferation and branching morphogenesis in kidney epithelial cells. J. Biol. Chem. 2006, 281:137-144.
97. Grunfeld JP, Albouze G, Jungers P, et al. Liver changes and complications in adult polycystic kidney disease. Adv. Nephrol. Necker. Hosp. 1985, 14:1-20.
98. Guay-Woodford L Autosomal recessive polycystic kidney disease. The Genetics of Renal Disease 2003, 239-251. Oxford University Press, Oxford, UK. F. Flinter, A. Saggar-Malik (Eds.).
99. Guay-Woodford LM Murine models of polycystic kidney disease: molecular and therapeutic insights. Am. J. Physiol. Renal Physiol. 2003, 285:F1034-F1049.
100. Guay-Woodford L, Desmond R Autosomal recessive polycystic kidney disease (ARPKD): the clinical experience in North America. Pediatrics 2003, 111:1072-1080.
101. Guay-Woodford L, Muecher G, Hopkins S, et al. The severe perinatal form of autosomal recessive polycystic kidney disease (ARPKD) maps to chromosome 6p21.1-p12: Implications for genetic counseling. Am. J. Hum. Genet. 1995, 56:1101-1107.
102. Hanaoka K, Qian F, Boletta A, et al. Co-assembly of polycystin-1 and -2 produces unique cation-permeable currents. Nature 2000, 408:990-994.
103. Harris PC, Bae KT, Rossetti S, et al. Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease. J. Am. Soc. Nephrol. 2006, 17:3013-3019.
104. Harris PC, Thomas S, MacCarthy AB, et al. A large duplicated area in the polycystic kidney disease 1 (PKD1) region of chromosome 16 is prone to rearrangement. Genomics 1994, 23:321-330.
105. Hateboer N, Dijk MA, Bogdanova N, et al. Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group. Lancet 1999, 353:103-107.
106. Hateboer N, Lazarou LP, Williams AJ, Holmans P, Ravine D Familial phenotype differences in PKD1. Kidney Int. 1999, 56:34-40.
107. Haycraft CJ, Banizs B, ydin-Son Y, Zhang Q, Michaud EJ, Yoder BK Gli2 and Gli3 localize to cilia and require the intraflagellar transport protein polaris for processing and function. PLoS Genet. 2005, 1:e53.
108. Helenius A, Aebi M Intracellular functions of N-linked glycans. Science 2001, 291:2364-2369.
109. Hidaka S, Konecke V, Osten L, Witzgall R PIGEA-14, a novel coiled-coil protein affecting the intracellular distribution of polycystin-2. J. Biol. Chem. 2004, 279:35009-35016.
110. Hiesberger T, Bai Y, Shao X, et al. Mutation of hepatocyte nuclear factor-1? inhibits Pkhd1 gene expression and produces renal cysts in mice. J. Clin. Invest. 2004, 113:814-825.
111. 2+ and activation of protein kinase C. J. Biol. Chem. 2006, 281:34357-34364.
112. Hirokawa N, Tanaka Y, Okada Y, Takeda S Nodal flow and the generation of left-right asymmetry. Cell 2006, 125:33-45.
113. Hogan M, Griffin M, Rossetti S, Torres V, Ward C, Harris P PKHDL1, a homolog of the autosomal recessive polycystic kidney disease gene, encodes a receptor with inducible T lymphocyte expression. Hum. Mol. Genet. 2003, 12:685-698.
114. Hooper KM, Boletta A, Germino GG, Hu Q, Ziegelstein RC, Sutters M Expression of polycystin-1 enhances endoplasmic reticulum calcium uptake and decreases capacitative calcium entry in ATP-stimulated MDCK cells. Am. J. Physiol. Renal Physiol. 2005, 289:521-530.
115. Hu J, Bae YK, Knobel KM, Barr MM Casein kinase II and calcineurin modulate TRPP function and ciliary localization. Mol. Biol. Cell 2006, 17:2200-2211.
116. Hu J, Barr MM ATP-2 interacts with the PLAT domain of LOV-1 and is involved in Caenorhabditis elegans polycystin signaling. Mol. Biol. Cell 2005, 16:458-469.
117. Huan Y, van Adelsberg J Polycystin-1, the PKD1 gene product, is in a complex containing E-cadherin and the catenins. J. Clin. Invest. 1999, 104:1459-1468.
118. Huang AL, Chen X, Hoon MA, et al. The cells and logic for mammalian sour taste detection. Nature 2006, 442:934-938.
119. Huang K, Diener DR, Mitchell A, Pazour GJ, Witman GB, Rosenbaum JL Function and dynamics of PKD2 in. J. Cell Biol. 2007, 179:501-514.
120. Hughes J, Ward CJ, Aspinwall R, Butler R, Harris PC Identification of a human homologue of the sea urchin receptor for egg jelly: a polycystic kidney disease-like protein. Hum. Mol. Genet. 1999, 8:543-549.
121. Hughes J, Ward CJ, Peral B, et al. The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nat. Genet. 1995, 10:151-160.
122. Ibraghimov-Beskrovnaya O, Bukanov NO, Donohue LC, Dackowski WR, Klinger KW, Landes GM Strong homophilic interactions of the Ig-like domains of polycystin-1, the protein product of an autosomal dominant polycystic kidney disease gene, PKD1 [In Process Citation]. Hum. Mol. Genet. 2000, 9:1641-1649.
123. Ibraghimov-Beskrovnaya O, Dackowski WR, Foggensteiner L, et al. Polycystin: In vitro synthesis, in vivo tissue expression, and subcellular localization identifies a large membrane-associated protein. Proc. Natl Acad. Sci. USA 1997, 94:6397-6402.
124. Iglesias CG, Torres VE, Offord KP, Holley KE, Beard CM, Kurland LT Epidemiology of adult polycystic kidney disease, Olmsted County, Minnesota. Am. J. Kidney Dis. 1983, 2:630-639.
125. Inagawa T Trends in incidence and case fatality rates of aneurysmal subarachnoid hemorrhage in Izumo City, Japan, between 1980-1989 and 1990-1998. Stroke 2001, 32:1499-1507.
126. Polycystic kidney disease: The complete structure of the PKD1 Gene and its Protein. Cell 1995, 81:289-298. The International Polycystic Kidney Disease Consortium.
127. Ishibe S, Joly D, Zhu X, Cantley LG Phosphorylation-dependent paxillin-ERK association mediates hepatocyte growth factor-stimulated epithelial morphogenesis. Mol. Cell 2003, 12:1275-1285.
128. Ishimaru Y, Inada H, Kubota M, Zhuang H, Tominaga M, Matsunami H Transient receptor potential family members PKD1L3 and PKD2L1 form a candidate sour taste receptor. Proc. Natl Acad. Sci. USA 2006, 103:12569-12574.
129. Jenkins PM, Hurd TW, Zhang L, et al. Ciliary targeting of olfactory CNG channels requires the CNGB1b subunit and the kinesin-2 motor protein, KIF17. Curr. Biol. 2006, 16:1211-1216.
130. Jiang ST, Chiou YY, Wang E, et al. Defining a link with autosomal-dominant polycystic kidney disease in mice with congenitally low expression of Pkd1. Am. J. Pathol. 2006, 8:205-220.
131. Johnson A, Gabow P Identification of patients with autosomal dominant polycystic kidney disease at highest risk for end-stage renal disease. J. Am. Soc. Nephrol. 1997, 8:1560-1567.
132. Joly D, Ishibe S, Nickel C, Yu Z, Somlo S, Cantley LG The polycystin 1-C-terminal fragment stimulates ERK-dependent spreading of renal epithelial cells. J. Biol. Chem. 2006, 281:26329-26339.
133. Jones C, Chen P Planar cell polarity signaling in vertebrates. Bioessays 2007, 29:120-132.
134. Kaimori J, Nagasawa Y, Menezes L, et al. Polyductin undergoes notch-like processing and regulated release from primary cilia. Hum. Mol. Genet. 2007, 16:942-956.
135. Kaimori JY, Germino GG ARPKD and ADPKD: first cousins or more distant relatives? J. Am. Soc. Nephrol. 2008, 19:416-418.
136. Kaplan B, Fay J, Shah V Autosomal recessive polycystic kidney disease. Pediatr. Nephrol. 1989, 3:43-49.
137. Kaplan BS, Kaplan P, de Chadarevian JP, Jequier S, O'Regan S, Russo P Variable expression of autosomal recessive polycystic kidney disease and congenital hepatic fibrosis within a family. Am. J. Med. Genet. 1988, 29:639-647.
138. Karbowniczek M, Robertson GP, Henske EP Rheb inhibits C-raf activity and B-raf/C-raf heterodimerization. J. Biol. Chem. 2006, 281:25447-25456.
139. Kelleher CL, McFann KK, Johnson AM, Schrier RW Characteristics of hypertension in young adults with autosomal dominant polycystic kidney disease compared with the general U.S. population. Am. J. Hypertens. 2004, 17:1029-1034.
140. Kerkar N, Norton K, Suchy F The hepatic fibrocystic diseases. Clin. Liver Dis. 2006, 10:55-71.
141. Kielstein R, Sass HM Genetics in kidney disease: how much do we want to know?. Am. J. Kidney Dis. 2002, 39:637-652.
142. Kim E, Arnould T, Sellin L, et al. Interaction between RGS7 and polycystin. Proc. Natl Acad. Sci. USA 1999, 96:6371-6376.
143. Kim E, Arnould T, Sellin LK, et al. The polycystic kidney disease 1 gene product modulates Wnt signaling. J. Biol. Chem. 1999, 274:4947-4953.
144. Kim I, Fu Y, Hui K, et al. Fibrocystin/polyductin modulates renal tubular formation by regulating polycystin-2 expression and function. J. Am. Soc. Nephrol. 2008, 19:455-456.
145. Kiselyov K, Soyombo A, Muallem S TRPpathies. J. Physiol. 2007, 578:641-653.
146. Klahr S, Breyer J, Beck G, et al. Dietary protein restriction, blood pressure control, and the progression of polycystic kidney disease modification of diet in renal disease study group. J. Am. Soc. Nephrol. 1995, 5:2037-2047.
147. Kleymenova E, Ibraghimov-Beskrovnaya O, Kugoh H, et al. Tuberin-dependent membrane localization of polycystin-1: a functional link between polycystic kidney disease and the TSC2 tumor suppressor gene. Mol. Cell 2001, 7:823-832.
148. Kocaman O, Oflaz H, Yekeler E, et al. Endothelial dysfunction and increased carotid intima-media thickness in patients with autosomal dominant polycystic kidney disease. Am. J. Kidney Dis. 2004, 43:854-860.
149. Kolch W Coordinating ERK/MAPK signalling through scaffolds and inhibitors. Nat. Rev. Mol. Cell Biol. 2005, 6:827-837.
150. Koptides M, Mean R, Demetriou K, Pierides A, DeltaS CC Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease [In Process Citation]. Hum. Mol. Genet. 2000, 9:447-452.
151. Kottgen M, Benzing T, Simmen T, et al. Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation. EMBO J. 2005, 24:705-716.
152. Koulen P, Cai Y, Geng L, et al. Polycystin-2 is an intracellular calcium release channel. Nat. Cell Biol. 2002, 4:191-197.
153. Krasnoperov V, Lu Y, Buryanovsky L, Neubert TA, Ichtchenko K, Petrenko AG Post-translational proteolytic processing of CIRL, a natural chimera of cell adhesion protein and G protein-coupled receptor. The role of the GPS motif. J. Biol. Chem. 2002;, [volume number: page span].
154. Lantinga-van L, Dauwerse JG, Baelde HJ, et al. Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease. Hum. Mol. Genet. 2004, 13:3069-3077.
155. Le NH, van der Bent P, Huls G, et al. Aberrant polycystin-1 expression results in modification of activator protein-1 activity, whereas Wnt signaling remains unaffected. J. Biol. Chem. 2004, 279:27472-27481.
156. Lehtonen S, Ora A, Olkkonen VM, et al. In vivo interaction of the adapter protein CD2-associated protein with the type 2 polycystic kidney disease protein, polycystin-2. J. Biol. Chem. 2000, 275:32888-32893.
157. Lehtonen S, Zhao F, Lehtonen E CD2-associated protein directly interacts with the actin cytoskeleton. Am. J. Physiol. Renal Physiol. 2002, 283:F734-F743.
158. Leuenroth SJ, Okuhara D, Shotwell JD, et al. Triptolide is a traditional Chinese medicine-derived inhibitor of polycystic kidney disease. Proc. Natl Acad. Sci. USA 2007, 104:4389-4394.
159. Li HP, Geng L, Burrow CR, Wilson PD Identification of phosphorylation sites in the PKD1-encoded protein C-terminal domain. Biochem. Biophys. Res. Commun. 1999, 259:356-363.
160. Li A, Davila S, Furu L, et al. Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease. Am. J. Hum. Genet. 2003, 72:691-703.
161. Li A, Tian X, Sung SW, Somlo S Identification of two novel polycystic kidney disease 1-like genes in human and mouse genomes. Genomics 2003, 82:498-500.
162. Li Q, Dai Y, Guo L, et al. Polycystin-2 associates with tropomyosin-1, an actin microfilament component. J. Mol. Biol. 2003, 325:949-962.
163. Li Q, Shen PY, Wu G, Chen XZ Polycystin-2 interacts with troponin I, an angiogenesis inhibitor. Biochemistry 2003, 42:450-457.
164. Li Q, Montalbetti N, Shen PY, et al. Alpha-actinin associates with polycystin-2 and regulates its channel activity. Hum. Mol. Genet. 2005, 14:1587-1603.
165. Li X, Luo Y, Starremans PG, McNamara CA, Pei Y, Zhou J Polycystin-1 and polycystin-2 regulate the cell cycle through the helix-loop-helix inhibitor Id2. Nat. Cell Biol. 2005, 7:1202-1212.
166. 2+ signaling. J. Biol. Chem. 2005, 280:41298-41306.
167. Lin F, Hiesberger T, Cordes K, et al. Kidney-specific inactivation of the KIF3A subunit of kinesin-II inhibits renal ciliogenesis and produces polycystic kidney disease. Proc. Natl Acad. Sci. USA 2003, 100:5286-5291.
168. 2?+ concentration is attenuated in collecting duct of monocilium-impaired orpk mice. Am. J. Physiol. Renal Physiol. 2005, 289:F978-F988.
169. Loghman-Adham M, Soto C, Inagami T, Sotelo-Avila C Expression of components of the renin-angiotensin system in autosomal recessive polycystic kidney disease. J. Histochem. Cytochem. 2005, 53:979-988.
170. LopezJimenez ND, Cavenagh MM, Sainz E, Cruz-Ithier MA, Battey JF, Sullivan SL Two members of the TRPP family of ion channels, Pkd1l3 and Pkd2l1, are co-expressed in a subset of taste receptor cells. J. Neurochem. 2006, 98:68-77.
171. Losekoot M, Haarloo C, Ruivenkamp C, White S, Breuning M, Peters D Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD). Hum. Genet. 2005, 118:185-206.
172. Low SH, Vasanth S, Larson CH, et al. Polycystin-1, STAT6, and P100 function in a pathway that transduces ciliary mechanosensation and is activated in polycystic kidney disease. Dev. Cell 2006, 10:57-69.
173. Lu W, Peissel B, Babakhanlou H, et al. Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation. Nat. Genet. 1997, 17:179-181.
174. 2+-permeable cation channel in renal epithelia. Mol. Cell. Biol. 2003, 23:2600-2607.
175. Ma R, Li WP, Rundle D, Kong J, Akbarali HI, Tsiokas L PKD2 functions as an epidermal growth factor-activated plasma membrane channel. Mol. Cell. Biol. 2005, 25:8285-8298.
176. Magistroni R, He N, Wang K, et al. Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease. J. Am. Soc. Nephrol. 2003, 14:1164-1174.
177. Mamane Y, Petroulakis E, LeBacquer O, Sonenberg N mTOR, translation initiation and cancer. Oncogene 2006, 25:6416-6422.
178. Markowitz GS, Cai Y, Li L, et al. Polycystin-2 expression is developmentally regulated. Am. J. Physiol. 1999, 277:F17-F25.
179. Marshall WF, Nonaka S Cilia: tuning in to the cell's antenna. Curr. Biol. 2006, 16:R604-R614.
180. Martin GM, Ogburn CE, Colgin LM, Gown AM, Edland SD, Monnat RJ Somatic mutations are frequent and increase with age in human kidney epithelial cells. Hum. Mol. Genet. 1996, 5:215-221.
181. Martin J, Han C, Gordon LA, et al. The sequence and analysis of duplication-rich human chromosome 16. Nature 2004, 432:988-994.
182. Masyuk TV, Huang BQ, Ward CJ, et al. Defects in cholangiocyte fibrocystin expression and ciliary structure in the PCK rat. Gastroenterology 2003, 125:1303-1310.
183. Masyuk TV, Masyuk AI, Torres VE, Harris PC, LaRusso NF Octreotide inhibits hepatic cystogenesis in a rodent model of polycystic liver disease by reducing cholangiocyte adenosine 3',5'-cyclic monophosphate. Gastroenterology 2007, 132:1104-1116.
184. Matsumura ME, Lobe DR, McNamara CA Contribution of the helix-loop-helix
185. McGrath J, Somlo S, Makova S, Tian X, Brueckner M Two populations of node monocilia initiate left-right asymmetry in the mouse. Cell 2003, 114:61-73.
186. Meder D, Shevchenko A, Simons K, Fullekrug J Gp135/podocalyxin and NHERF-2 participate in the formation of a preapical domain during polarization of MDCK cells. J. Cell Biol. 2005, 168:303-313.
187. Menezes LF, Cai Y, Nagasawa Y, et al. Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm. Kidney Int. 2004, 66:1345-1355.
188. Mengerink KJ, Moy GW, Vacquier VD suREJ3, a polycystin-1 protein, is cleaved at the GPS domain and localizes to the acrosomal region of sea urchin sperm. J. Biol. Chem. 2002, 277:943-948.
189. Milutinovic J, Fialkow PJ, Agodoa LY, Phillips LA, Bryant JI Fertility and pregnancy complications in women with autosomal dominant polycystic kidney disease. Obstet. Gynecol. 1983, 61:566-569.
190. Milutinovic J, Rust PF, Fialkow PJ, et al. Intrafamilial phenotypic expression of autosomal dominant polycystic kidney disease. Am. J. Kidney Dis. 1992, 19:465-472.
191. Mochizuki T, Saijoh Y, Tsuchiya K, et al. Cloning of inv, a gene that controls left/right asymmetry and kidney development. Nature 1998, 395:177-181.
192. Mochizuki T, Wu G, Hayashi T, et al. PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science 1996, 272:1339-1342.
193. Moon RT Wnt/beta-catenin pathway. Science 2005, 1:2005.
194. Moser M, Matthiesen S, Kirfel J, et al. A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD). Hepatology 2005, 41:1113-1121.
195. Moy GW, Mendoza LM, Schulz JR, Swanson WJ, Glabe CG, Vacquier VD The sea urchin sperm receptor for egg jelly is a modular protein with extensive homology to the human polycystic kidney disease protein, PKD1. J. Cell Biol. 1996, 133:809-817.
196. Mrug M, Li R, Cui X, Schoeb T, Churchill G, Guay-Woodford L Kinesin family member 12 Is a candidate polycystic kidney disease modifier in the cpk mouse. J. Am. Soc. Nephrol. 2005, 16:905-916.
197. Mumm JS, Schroeter EH, Saxena MT, et al. A ligand-induced extracellular cleavage regulates gamma-secretase-like proteolytic activation of Notch1. Mol. Cell 2000, 5:197-206.
198. Murcia NS, Richards WG, Yoder BK, Mucenski ML, Dunlap JR, Woychik RP The Oak Ridge Polycystic Kidney (ORPKD) disease gene is required for left-right axis determination. Development 2000, 127:2347-2355.
199. Muto S, Aiba A, Saito Y, et al. Pioglitazone improves the phenotype and molecular defects of a targeted Pkd1 mutant. Hum. Mol. Genet. 2002, 11:1731-1742.
200. Mykytyn K, Sheffield VC Establishing a connection between cilia and Bardet-Biedl Syndrome. Trends Mol. Med. 2004, 10:106-109.
201. 2+ signaling. Biophys. Res. Commun. 2005, 338:880-889.
202. Nagao S, Yamaguchi T, Kusaka M, et al. Renal activation of extracellular signal-regulated kinase in rats with autosomal-dominant polycystic kidney disease. Kidney Int. 2003, 63:427-437.
203. Nagao S, Kazuhiro N, Katsuyama M, et al. Increased water intake decreases progression of polycystic kidney disease in the PCK rat. J. Am. Soc. Nephrol. 2006, 17:228-235.
204. Nagasawa Y, Matthiesen S, Onuchic LF, et al. Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene. J. Am. Soc. Nephrol. 2002, 13:2246-2258.
205. Nauli SM, Alenghat FJ, Luo Y, et al. Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells. Nat. Genet. 2003, 33:129-137.
206. Neill AT, Moy GW, Vacquier VD Polycystin-2 associates with the polycystin-1 homolog, suREJ3, and localizes to the acrosomal region of sea urchin spermatozoa. Mol. Reprod. Dev. 2004, 67:472-477.
207. Newby LJ, Streets AJ, Zhao Y, Harris PC, Ward CJ, Ong AC Identification, characterization, and localization of a novel kidney polycystin-1-polycystin-2 complex. J. Biol. Chem. 2002, 277:20763-20773.
208. Nichols MT, Gidey E, Matzakos T, Dahl R, Stiegmann G, Shah RJ, Grantham JJ, Fitz JG, Doctor RB Secretion of cytokines and growth factors into autosomal dominant polycystic kidney disease liver cyst fluid. Hepatology 2004, 40:836-846.
209. Nilius B, Owsianik G, Voets T, Peters JA Transient receptor potential cation channels in disease. Physiol. Rev. 2007, 87:165-217.
210. Nims N, Vassmer D, Maser RL Transmembrane domain analysis of polycystin-1, the product of the polycystic kidney disease-1 (PKD1) gene: evidence for 11 membrane-spanning domains. Biochemistry 2003, 42:13035-13048.
211. Nishio S, Hatano M, Nagata M, Horie S, Koike T, Tokuhisa T, Mochizuki T Pkd1 regulates immortalized proliferation of rean tubular epithelial cells through p53 induction and JNK activation. J. Clin. Invest. 2005, 115:910-918.
212. Nomura H, Turco AE, Pei Y, et al. Identification of PKDL, a novel polycystic kidney disease 2-like gene whose murine homologue is deleted in mice with kidney and retinal defects. J. Biol. Chem. 1998, 273:25967-25973.
213. Obara T, Mangos S, Liu Y, et al. Polycystin-2 immunolocalization and function in zebrafish. J. Am. Soc. Nephrol. 2006, 17:2706-2718.
214. Obermuller N, Gallagher AR, Cai Y, et al. The rat Pkd2 protein assumes distinct subcellular distributions in different organs. Am. J. Physiol. 1999, 277:F914-F925.
215. Omori S, Hida M, Fujita H, Takahashi H, Tanimura S, Kohno M, Awazu M Extracellular signal-regulated kinase inhibition slows disease progression in mice with polycystic kidney disease. J. Am. Soc. Nephrol. 2006, 17:1604-1614.
216. Ong AC, Harris PC Molecular basis of renal cyst formation - one hit or two?. Lancet 1997, 349:1039-1040.
217. Ong AC, Harris PC, Davies DR, et al. Polycystin-1 expression in PKD1, early-onset PKD1, and TSC2/PKD1 cystic tissue. Kidney Int. 1999, 56:1324-1333.
218. Ong AC, Ward CJ, Butler RJ, 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. 1999, 154:1721-1729.
219. Onuchic LF, Furu L, Nagasawa Y, et al. PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. Am. J. Hum. Genet. 2002, 70:1305-1317.
220. Osathanondh V, Potter E Pathogenesis of polycystic kidneys. Type 1 due to hyperplasia of interstitial portions of the collecting tubules. Arch. Pathol. 1964, 77:466-473.
221. Otto EA, Schermer B, Obara T, et al. Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Nat. Genet. 2003, 34:413-420.
222. Palsson R, Sharma CP, Kim K, McLaughlin M, Brown D, Arnaout MA Characterization and cell distribution of polycystin, the product of autosomal dominant polycystic kidney disease gene 1. Mol. Med. 1996, 2:702-711.
223. Parnell SC, Magenheimer BS, Maser RL, et al. The polycystic kidney disease-1 protein, polycystin-1, binds and activates heterotrimeric G-proteins in vitro. Biochem. Biophys. Res. Commun. 1998, 251:625-631.
224. Parnell SC, Magenheimer BS, Maser RL, Calvet JP Identification of the major site of in vitro PKA phosphorylation in the polycystin-1 C-terminal cytosolic domain. Biochem. Biophys. Res. Commun. 1999, 259:539-543.
225. Parnell SC, Magenheimer BS, Maser RL, Zien CA, Frischauf AM, Calvet JP Polycystin-1 activation of c-Jun N-terminal kinase and AP-1 is mediated by heterotrimeric G proteins. J. Biol. Chem. 2002, 277:19566-19572.
226. Patel V, Li L, Cobo-Stark P, Shao X, Somlo S, Lin F, Igarashi P Acute kidney injury and aberrant planar cell polarity induce cyst formation in mice lacking renal cilia. Hum. Mol. Genet. 2008, 17:1578-1590.
227. Paterson AD, Magistroni R, He N, et al. Progressive loss of renal function is an age-dependent heritable trait in type 1 autosomal dominant polycystic kidney disease. J. Am. Soc. Nephrol. 2005, 16:755-762.
228. Paterson AD, Pei Y Is there a third gene for autosomal dominant polycystic kidney disease?. Kidney Int. 1998, 54:1759-1761.
229. Paterson AD, Wang KR, Lupea D, St George-Hyslop P, Pei Y Recurrent fetal loss associated with bilineal inheritance of type 1 autosomal dominant polycystic kidney disease. Am. J. Kidney Dis. 2002, 40:16-20.
230. Pazour GJ Intraflagellar transport and cilia-dependent renal disease: the ciliary hypothesis of polycystic kidney disease. J. Am. Soc. Nephrol. 2004, 15:2528-2536.
231. Pazour GJ, Dickert BL, Vucica Y, Seeley ES, Rosenbaum JL, Witman GB, Cole DG Chlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene tg737, are required for assembly of cilia and flagella. J. Cell Biol. 2000, 151:709-718.
232. Pazour GJ, San Agustin JT, Follit JA, Rosenbaum JL, Witman GB Polycystin-2 localizes to kidney cilia and the ciliary level is elevated in orpk mice with polycystic kidney disease. Curr. Biol. 2002, 12:R378-R380.
233. Pei Y, Paterson AD, Wang KR, et al. Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease. Am. J. Hum. Genet. 2001, 68:355-363.
234. Pei Y, Watnick T, He N, et al. Somatic PKD2 mutations in individual kidney and liver cysts support a "two-hit" model of cystogenesis in type 2 autosomal dominant polycystic kidney disease. J. Am. Soc. Nephrol. 1999, 10:1524-1529.
235. Pennekamp P, Karcher C, Fischer A, et al. The ion channel polycystin-2 is required for left-right axis determination in mice. Curr. Biol. 2002, 12:938-943.
236. Peral B, Gamble V, Strong C, et al. Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach. Am. J. Hum. Genet. 1997, 60:1399-1410.
237. Peral B, Ong AC, San Millan JL, Gamble V, Rees L, Harris PC A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1). Hum. Mol. Genet. 1996, 5:539-542.
238. Pereira TV, Nunes AC, Rudnicki M, et al. Influence of ACE I/D gene polymorphism in the progression of renal failure in autosomal dominant polycystic kidney disease: a meta-analysis. Nephrol. Dial. Transplant. 2006, 21:3155-3163.
239. Persu A, Duyme M, Pirson Y, et al. Comparison between siblings and twins supports a role for modifier genes in ADPKD. Kidney Int. 2004, 66:2132-2136.
240. Peters DJM, Sandkuijl LA Genetic heterogeneity of polycystic kidney disease in Europe. Contributions to Nephrology: Polycystic Kidney Disease 1992, 128-139. Karger, Basel. M.H. Breuining, M. Devoto, G. Romeo (Eds.).
241. Peters DJM, van de Wal A, Spruit L, et al. Cellular localization and tissue distribution of polycystin-1. J. Pathol. 1999, 188:439-446.
242. Piontek K, Menezes LF, Garcia-Gonzalez MA, Huso DL, Germino GG A critical developmental switch defines the kinetics of kidney cyst formation after loss of Pkd1. Nat. Med. 2007, 13:1490-1495.
243. Piontek KB, Huso DL, Grinberg A, et al. A functional floxed allele of Pkd1 that can be conditionally inactivated in vivo. J. Am. Soc. Nephrol. 2004, 15:3035-3043.
244. Pirson Y, Chauveau D, Torres VE Management of cerebral aneurysms in autosomal dominant polycystic kidney disease: unruptured asymptomatic intracranial aneurysms. J. Am. Soc. Nephrol. 2002, 13:269-276.
245. Ponting CP, Hofmann K, Bork P A latrophilin/CL-1-like GPS domain in polycystin-1. Curr. Biol. 1999, 9:R585-R588.
246. 2+-sensitive intermediate-conductance K+ channels in MDCK cells. J. Membr. Biol. 2003, 191:193-200.
247. Praetorius HA, Spring KR Bending the MDCK cell primary cilium increases intracellular calcium. J. Membr. Biol. 2001, 184:71-79.
248. Praetorius HA, Spring KR Removal of the MDCK cell primary cilium abolishes flow sensing. J. Membr. Biol. 2003, 191:69-76.
249. Praetorius HA, Spring KR The renal cell primary cilium functions as a flow sensor. Curr. Opin. Nephrol. Hypertens. 2003, 12:517-520.
250. Praetorius HA, Spring KR A physiological view of the primary cilium. Annu. Rev. Physiol. 2005, 67:515-529.
251. Pritchard L, Sloane-Stanley JA, Sharpe J, et al. A human PKD1 transgene generates functional polycystin-1 in mice and is associated with a cystic phenotype. Hum. Mol. Genet. 2000, 9:2617-2627.
252. Puri S, Magenheimer BS, Maser RL, et al. Polycystin-1 activates the calcineurin/NFAT (nuclear factor of activated T-cells) signaling pathway. J. Biol. Chem. 2004, 279:55455-55464.
253. Qian CN, Knol J, Igarashi P, et al. Cystic renal neoplasia following conditional inactivation of apc in mouse renal tubular epithelium. J. Biol. Chem. 2005, 280:3938-3945.
254. Qian F, Boletta A, Bhunia AK, et al. Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations. Proc. Natl Acad. Sci. USA 2002, 99:16981-16986.
255. Qian F, Germino FJ, Cai Y, Zhang X, Somlo S, Germino GG PKD1 interacts with PKD2 through a probable coiled-coil domain. Nat. Genet. 1997, 16:179-183.
256. Qian F, Watnick TJ, Onuchic LF, Germino GG The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I. Cell 1996, 87:979-987.
257. Qian F, Wei W, Germino G, Oberhauser A The nanomechanics of polycystin-1 extracellular region. J. Biol. Chem. 2005, 280:40723-40730.
258. Qian Q, Du H, King BF, Kumar S, Dean PG, Cosio FG, Torres VE Sirolimus reduces polycystic liver volume in ADPKD patients. J. Am. Soc. Nephrol. 2008, 19:631-638.
259. Qian Q, Hunter LW, Han YS, et al. Pkd2+/2 vascular smooth muscles develop exaggerated vasocontraction in response to phenylephrine stimulation. JASN 2007, 18:485-493.
260. Qian Q, Hunter LW, Li M, et al. Pkd2 haploinsufficiency alters intracellular calcium regulation in vascular smooth muscle cells. Hum. Mol. Genet. 2003, 12:1875-1880.
261. Qian Q, Li A, King BF, et al. Clinical profile of autosomal dominant polycystic liver disease. Hepatology 2003, 37:164-171.
262. Ravine D, Gibson RN, Walker RG, Sheffield LJ, Kincaid-Smith P, Danks DM Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1. Lancet 1994, 343:824-827.
263. Renal Data System US. USRDS 1999 Annual Data Report. Bethesda: National Institutes of Health, 1999.
264. Reuss A, Wladimiroff JW, Niermeyer MF Sonographic, clinical and genetic aspects of prenatal diagnosis of cystic kidney disease. Ultrasound Med. Biol. 1991, 17:687-694.
265. Reynolds DM, Hayashi T, Cai Y, et al. Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease. J. Am. Soc. Nephrol. 1990, 10:2342-2351.
266. Riordan JR, Forbush B3, Hanrahan JW The molecular basis of chloride transport in shark rectal gland. J. Exp. Biol. 1994, 196:405-418.
267. Rodriguez-Viciana P, Tetsu O, Tidyman WE, et al. Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. Science 2006, 311:1287-1290.
268. Rohatgi R, Greenberg A, Burrow C, Wilson P, Satlin L Na transport in autosomal recessive polycystic kidney disease (ARPKD) cyst lining epithelial cells. J. Am. Soc. Nephrol. 2003, 14:827-836.
269. Roitbak T, Ward CJ, Harris PC, Bacallao R, Ness SA, Wandinger-Ness A A polycystin-1 multiprotein complex is disrupted in polycystic kidney disease cells. Mol. Biol. Cell 2004, 15:1334-1346.
270. Ros E, Navarro S, Bru C, Gilabert R, Bianchi L, Bruguera M Ursodeoxycholic acid treatment of primary hepatolithiasis in Caroli's syndrome. Lancet 1993, 342:404-406.
271. Ross AJ, May-Simera H, Eichers ER, et al. Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat. Genet. 2005, 37:1135-1140.
272. Rossetti S, Burton S, Strmecki L, et al. The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease. J. Am. Soc. Nephrol. 2002, 13:1230-1237.
273. Rossetti S, Chauveau D, Kubly V, et al. Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype. Lancet 2003, 361:2196-2201.
274. Rossetti S Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease. J. Am. Soc. Nephrol. 2007, 18:1374-1380.
275. Rossetti S, Strmecki L, Gamble V, et al. Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications. Am. J. Hum. Genet. 2001, 68:46-63.
276. Ruggenenti P, Remuzzi A, Ondei P, et al. Safety and efficacy of long-acting somatostatin treatment in autosomal dominant polcysytic kidney disease. Kidney Int. 2005, 68:206-216.
277. Rundle DR, Gorbsky G, Tsiokas L PKD2 interacts and co-localizes with mDia1 to mitotic spindles of dividing cells: role of mDia1 IN PKD2 localization to mitotic spindles. J. Biol. Chem. 2004, 279:29728-29739.
278. Saadi-Kheddouci S, Berrebi D, Romagnolo B, et al. Early development of polycystic kidney disease in transgenic mice expressing an activated mutant of the beta-catenin gene. Oncogene 2001, 20:5972-5981.
279. Sampson JR, Maheshwar MM, Aspinwall R, et al. Renal cystic disease in tuberous sclerosis: The role of the polycystic kidney disease 1 gene. Am. J. Hum. Genet. 1997, 61:843-8451.
280. Sandford R, Sgotto B, Aparicio S, et al. Comparative analysis of the polycystic kidney disease 1 (PKD!) gene reveals an integral membrane glycoprotein with multiple evolutionary conserved domains. Hum. Mol. Genet. 1997, 6:1483-1489.
281. Sarbassov DD, Ali SM, Sabatini DM Growing roles for the mTOR pathway. Curr. Opin. Cell Biol. 2005, 17:596-603.
282. Sato Y, Harada K, Furubo S, et al. Inhibition of intrahepatic bile duct dilation of the polycystic kidney rat with a novel tyrosine kinase inhibitor gefitinib. Am. J. Pathol. 2006, 169:1238-1250.
283. Sato Y, Harada K, Kizawa K, et al. Activation of the MEK5/ERK5 cascade is responsible for biliary dysgenesis in a rat model of Caroli's disease. Am. J. Pathol. 2005, 166:49-60.
284. Scheffers MS, Le H, van der BP, et al. Distinct subcellular expression of endogenous polycystin-2 in the plasma membrane and Golgi apparatus of MDCK cells. Hum. Mol. Genet. 2002, 11:59-67.
285. Scheffers MS, van der BP, Prins F, et al. Polycystin-1, the product of the polycystic kidney disease 1 gene, co-localizes with desmosomes in MDCK cells. Hum. Mol. Genet. 2000, 9:2743-2750.
286. Schnell DJ, Hebert DN Protein translocons: multifunctional mediators of protein translocation across membranes. Cell 2003, 112:491-495.
287. Schottenfeld J, Sullivan-Brown J, Burdine RD Zebrafish curly up encodes a Pkd2 ortholog that restricts left-side-specific expression of southpaw. Development 2007, 134:1605-1615.
288. Schroeter EH, Kisslinger JA, Kopan R Notch-1 signalling requires ligand-induced proteolytic release of intracellular domain. Nature 1998, 393:382-386.
289. Seifert JR, Mlodzik M Frizzled/PCP signalling: a conserved mechanism regulating cell polarity and directed motility. Nat. Rev. Genet. 2007, 8:126-138.
290. Sharp A, Messiaen L, Page G, et al. Comprehensive genomic analysis for PKHD1 mutations in ARPKD cohorts. J. Med. Genet. 2005, 42:336-349.
291. Sheppard DN, Welsh MJ Structure and function of the CFTR chloride channel. Physiol. Rev. 1999, 79:23-45.
292. Sherstha R, McKinley C, Russ P, et al. Postmenopausal estrogen therapy selectively stimulates hepatic enlargement in women with autosomal dominant polycystic kidney disease. Hepatology 1997, 26:1282-1286.
293. Shibazaki S, Yu Z, Nishio S, et al. Cyst formation and activation of the extracellular regulated kinase pathway after kidney specific inactivation of Pkd1. Hum. Mol. Genet. 2008, 17:1505-1516.
294. Shillingford JM, Murcia NS, Larson CH, et al. The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease. Proc. Natl Acad. Sci. USA 2006, 103:5466-5471.
295. Shneider B, Magid M Liver disease in autosomal recessive polycystic kidney disease. Pediatr. Transplant. 2005, 9:634-649.
296. Shukla V, Coumoul X, Wang RH, Kim HS, Deng CX RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis. Nat. Genet. 2007, 39:1145-1150.
297. Simons M, Gloy J, Ganner A, et al. Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways. Nat. Genet. 2005, 37:537-543.
298. Singla V, Reiter JF The primary cilium as the cell's antenna: sig-naling at a sensory organelle. Science 2006, 313:629-633.
299. Somlo S The PKD2 gene: structure, interactions, mutations, and inactivation. Adv. Nephrol. Necker Hosp. 1999, 29:257. 5.
300. Sujansky E, Kreutzer SB, Johnson AM, Lezotte DC, Schrier RW, Gabow PA Attitudes of at-risk and affected individuals regarding presymptomatic testing for autosomal dominant polycystic kidney disease. Am. J. Med. Genet. 1990, 35:510-515.
301. Sullivan LP, Wallace DP, Grantham JJ Epithelial transport in polycystic kidney disease. Physiol. Rev. 1998, 78:1165-1191.
302. Sumfest JM, Burns MW, Mitchell ME Aggressive surgical and medical management of autosomal recessive polycystic kidney disease. Urology 1993, 42:309-312.
303. Sun Z, Amsterdam A, Pazour GJ, Cole DG, Miller MS, Hopkins N A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney. Development 2004, 131:4085-4093.
304. Sweeney WJ, Avner E Molecular and cellular pathophysiology of autosomal recessive polycystic kidney disease (ARPKD). Cell Tissue Res. 2006, 326:671-685.
305. Sweeney WE, Chen Y, Nakanish K, Frost P, Avner ED Treatment of polycystic kidney disease with a novel tyrosine kinase inhibitor. Kidney Int. 2000, 57:33-40.
306. Sweeney WE, Hamahira K, Sweeney J, Garcia-Gatrell M, Frost P, Avner ED Combination treatment of PKD utilizing dual inhibition of EGF-receptor activity and ligand bioavailability. Kidney Int. 2003, 64:1310-1319.
307. Tanaka Y, Okada Y, Hirokawa N FGF-induced vesicular release of Sonic hedgehog and retinoic acid in leftward nodal flow is critical for left-right determination. Nature 2005, 435:172-177.
308. Tao Y, Kim J, Schrier RW, Edelstein CL Rapamycin markedly slows disease progression in a rat model of polycystic kidney disease. J. Am. Soc. Nephrol. 2005, 16:46-51.
309. Tazon-Vega B, Vilardell M, Perez-Oller L, et al. Study of candidate genes affecting the progression of renal disease in autosomal dominant polycystic kidney disease type 1. Nephrol. Dial. Transplant. 2007, 22:1567-1577.
310. Thivierge C, Kurbegovic A, Couillard M, Guillaume R, Cote O, Trudel M Overexpression of PKD1 causes polycystic kidney disease. Mol. Cell. Biol. 2006, 26:1538-1548.
311. Torra R, Badenas C, Darnell A, et al. Linkage, clinical features, and prognosis of autosomal dominant polycystic kidney disease types 1 and 2. J. Am. Soc. Nephrol. 1996, 7:2142-2151.
312. Torra R, Badenas C, Perez-Oller L, et al. Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients. Am. J. Kidney Dis. 2000, 36:728-734.
313. Torra R, Badenas C, San Millan JL, Perez-Oller L, Estivill X, Darnell A A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2. Am. J. Hum. Genet. 1999, 65:345-352.
314. Torres V, Sweeney W, Wang X, et al. Epidermal growth factor receptor tyrosine kinase inhibition is not protective in PCK rats. Kidney Int. 2004, 66:1766-1773.
315. Torres VE, Donovan KA, Scicli G, et al. Synthesis of renin by tubulocystic epithelium in autosomal-dominant polycystic kidney disease. Kidney Int. 1992, 42:364-373.
316. Torres VE, Erickson SB, Smith LH, Wilson DM, Hattery RR, Segura JW The association of nephrolithiasis and autosomal dominant polycystic kidney disease. Am. J. Kidney Dis. 1988, 11:318-325.
317. Torres VE, Harris PC, Pirson Y Autosomal dominant polycystic kidney disease. Lancet 2007, 369:1287-1301.
318. Torres VE, Holley KE, Offord KP General features of autosomal dominant polycystic kidney disease. Problems in Diagnosis and Management of Polycystic Kidney Disease 1985, 49-69. PKD Foundation, Kansas City, MO. J. Grantham, K. Gardner (Eds.).
319. Torres VE, Wang X, Qian Q, Somlo S, Harris PC, Gattone VH Effective treatment of an orthologous model of autosomal dominant polycystic kidney disease. Nat. Med. 2004, 10:363-364.
320. Torres VE, Wilson DM, Hattery RR, Segura JW Renal stone disease in autosomal dominant polycystic kidney disease. Am. J. Kidney Dis. 1993, 22:513-519.
321. Torres V, Rastogi S, King B, Stanson A, Gross J, Nagorney D Hepatic venous outflow obstruction in autosomal dominant polycystic kidney disease. J. Am. Soc. Nephrol. 1994, 5:1186-1192.
322. Treml K, Meimaroglou D, Hentges A, Bause E The alpha- and beta-subunits are required for expression of catalytic activity in the hetero-dimeric glucosidase II complex from human liver. Glycobiology 2000, 10:493-502.
323. Trombetta ES, Simons JF, Helenius A Endoplasmic reticulum glucosidase II is composed of a catalytic subunit, conserved from yeast to mammals, and a tightly bound noncatalytic HDEL-containing subunit. J. Biol. Chem. 1996, 271:27509-27516.
324. Tsiokas L, Arnould T, Zhu C, Kim E, Walz G, Sukhatme VP Specific association of the gene product of PKD2 with the TRPC1 channel. Proc. Natl Acad. Sci. USA 1999, 96:3934-3939.
325. Tsiokas L, Kim E, Arnould T, Sukhatme VP, Walz G Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2. Proc. Natl Acad. Sci. USA 1997, 94:6965-6970.
326. Veizis I, Cotton C Abnormal EGF-dependent regulation of sodium absorption in ARPKD collecting duct cells. Am. J. Physiol. Renal Physiol. 2005, 288:F474-F482.
327. Veldhuisen B, Spruit L, Dauwerse HG, Breuning MH, Peters DJM Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2). Euro. J. Hum. Genet. 1999, 7:860-872.
328. Wahl PR, Serra AL, Le Hir M, Molle KD, Hall MN, Wuthrich RP Inhibition of mTOR with sirolimus slows disease progression in Han: SPRD rats with autosomal dominant polycystic kidney disease (ADPKD). Nephrol. Dial. Transplant. 2006, 21:598. 4.
329. Walz G Therapeutic approaches in autosomal dominant polycystic kidney disease (ADPKD): is there light at the end of the tunnel?. Nephrol. Dial. Transplant. 2006, 21:1752-1757.
330. Wang D, Iversen J, Wilcox CS, Strandgaard S Endothelial dysfunction and reduced nitric oxide in resistance arteries in autosomal-dominant polycystic kidney disease. Kidney Int. 2003, 64:1381-1388.
331. Wang S, Luo Y, Wilson P, Witman G, Zhou J The autosomal recessive polycystic kidney disease protein is localized to primary cilia, with concentration in the basal body area. J. Am. Soc. Nephrol. 2004, 15:592-602.
332. Wang S, Zhang J, Nauli SM, et al. Fibrocystin/polyductin, found in the same protein complex with polycystin-2, regulates calcium responses in kidney epithelia. Mol. Cell. Biol. 2007, 27:3241-3252.
333. Wang Y, Nathans J Tissue/planar cell polarity in vertebrates: new insights and new questions. Development 2007, 134:647-658.
334. Ward CJ, Hogan MC, Rossetti S, et al. The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat. Genet. 2002, 30:259-269.
335. Ward CJ, Turley H, Ong AC, et al. Polycystin, the polycystic kidney disease 1 protein, is expressed by epithelial cells in fetal, adult, and polycystic kidney. Proc. Natl Acad. Sci. USA 1996, 93:1524-1528.
336. Ward CJ, Yuan D, Masyuk TV, et al. Cellular and subcellular localization of the ARPKD protein fibrocystin is expressed on primary cilia. Hum. Mol. Genet. 2003, 12:2703-2710.
337. Watnick T, He N, Wang K, et al. Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations. Nat. Genet. 2000, 25:143-144.
338. Watnick T, Phakdeekitcharoen B, Johnson A, et al. Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease. Am. J. Hum. Genet. 1999, 65:1561-1571.
339. Watnick T, Piontek K, Cordal T, et al. An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection. Hum. Mol. Genet. 1997, 6:1473-1481.
340. Watnick TJ, Jin Y, Matunis E, Kernan MJ, Montell C A flagellar polycystin-2 homolog required for male fertility in Drosophila. Curr. Biol. 2003, 13:2179-2184.
341. Watnick TJ, Torres VE, Gandolph MA, et al. Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease. Mol. Cell 1998, 2:247-251.
342. Wei F, Karihaloo A, Yu Z, et al. Ngal suppresses cyst growth by Pkd1 null cells in vitro and in vivo. Kidney Int. 2008, (in press).
343. Williams SS, Cobo-Stark P, James LR, Somlo S, Igarashi P Kidney cysts, pancreatic cysts, and biliary disease in a mouse model of autosomal recessive polycystic kidney disease. Pediatr. Nephrol. 2008, 23:733-741.
344. Wilson PD, Geng L, Li X, Burrow CR The PKD1 gene product, "polycystin-1," is a tyrosine-phosphorylated protein that colocalizes with alpha2beta1-integrin in focal clusters in adherent renal epithelia. Lab. Invest. 1999, 79:1311-1323.
345. Wilson SJ, Amsler K, Hyink DP, et al. Inhibition of HER-2(neu/ErbB2) restores normal function and structure to polycystic kidney disease (PKD) epithelia. Biochim. Biophys. Acta 2006, [volume number: page span required].
346. Witzgall R Polycystin-2-an intracellular or plasma membrane channel?. Naunyn Schmiedebergs Arch. Pharmacol. 2005, 371:342-347.
347. Woods AJ, White DP, Caswell PT, Norman JC PKD1/PKCmu promotes alphavbeta3 integrin recycling and delivery to nascent focal adhesions. EMBO J. 2004, 23:2531-2543.
348. Woollard J, Punyashtiti R, Richardson S, et al. A mouse model of autosomal recessive polycystic kidney disease with biliary duct and proximal tubule dilatation. Kidney Int. 2007, 72:328-336.
349. Wu G, D'Agati V, Cai Y, et al. Somatic inactivation of Pkd2 results in polycystic kidney disease. Cell 1998, 93:177-188.
350. Wu G, Markowitz GS, Li L, et al. Cardiac defects and renal failure in mice with targeted mutations in Pkd2. Nat. Genet. 2000, 24:75-78.
351. Wu G, Tian X, Nishimura S, et al. Trans-heterozygous Pkd1 and Pkd2 mutations modify expression of polycystic kidney disease. Hum. Mol. Genet. 2002, 11:1845-1854.
352. Wu GQ, Hayashi T, Park JH, et al. Identification of the human PKD2-related cDNA, PKD2L: tissue-specific expression and linkage mapping on chromosome 10q25. Genomics 1998, 54:564-568.
353. Wu Y, Dai XQ, Li Q, et al. Kinesin-2 mediates physical and functional interactions between polycystin-2 and fibrocystin. Hum. Mol. Genet. 2006, 15:3280-3292.
354. Xiong H, Chen Y, Yi Y, et al. A novel gene encoding a TIG multiple domain protein is a positional candidate for autosomal recessive polycystic kidney disease. Genomics 2002, 80:96-104.
355. Xu GM, Sikaneta T, Sullivan BM, et al. Polycystin-1 interacts with intermediate filaments. J. Biol. Chem. 2001, 276:46544-46552.
356. Xu N, Glockner JF, Rossetti S, Babovich-Vuksanovic D, Harris PC, Torres VE Autosomal dominant polycystic kidney disease coexisting with cystic fibrosis. J. Nephrol. 2006, 19:529-534.
357. Yamaguchi T, Nagao S, Wallace DP, et al. Cyclic AMP activates B-Raf and ERK in cyst epithelial cells from autosomal-dominant polycystic kidneys. Kidney Int. 2003, 63:1983-1994.
358. Yamaguchi T, Pelling JC, Ramaswamy NT, et al. cAMP stimulates the in vitro proliferation of renal cyst epithelial cells by activating the extracellular signal-regulated kinase pathway. Kidney Int. 2000, 57:1460-1471.
359. Yamaguchi T, Wallace DP, Magenheimer BS, Hempson SJ, Grantham JJ, Calvet JP Calcium restriction allows cAMP activation of the B-Raf/ERK pathway, switching cells to a cAMP-dependent growth-stimulated phenotype. J. Biol. Chem. 2004, 279:40419-40430.
360. Yang J, Zhang S, Zhou Q, et al. PKHD1 gene silencing may cause cell abnormal proliferation through modulation of intracellular calcium in autosomal recessive polycystic kidney disease. J. Biochem. Mol. Biol. 2007, 40:467-474.
361. Yium J, Gabow P, Johnson A, Kimberling W, Martinez-Maldonado M Autosomal dominant polycystic kidney disease in Blacks: clinical course and effects of sickle-cell hemoglobin. J. Am. Soc. Nephrol. 1994, 4:1670-1674.
362. Yoder BK Role of primary cilia in the pathogenesis of polycystic kidney disease. J. Am. Soc. Nephrol. 2007, 18:1381-1388.
363. Yoder BK, Hou X, Guay-Woodford LM The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia. J. Am. Soc. Nephrol. 2002, 13:2508-2516.
364. Yuasa T, Venugopal B, Weremowicz S, Morton CC, Guo L, Zhou J The sequence, expression, and chromosomal localization of a novel polycystic kidney disease 1-like gene, PKD1L1, in human. Genomics 2002, 79:376-3786.
365. Zerres K, Mucher G Autosomal recessive polycystic kidney disease. J. Mol. Med. 1998, 76:303-309.
366. Zerres K, Mucher G, Becker J, et al. Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology. Am. J. Med. Genet. 1998, 76:137-144.
367. Zerres K, Senderek J, Rudnik-Schoneborn S, et al. New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene. Clin. Genet. 2004, 66:53-57.
368. Zhang M, Mai W, Li C, et al. PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells. Proc. Natl Acad. Sci. USA 2004, 101:2311-2316.