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2)Harris PC, Torres, VE. Polycystic kidney disease. Annu Rev Med. 2009;60: 321-37
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3)Pirson Y. Extrarenal manifestations of autosomal dominant polycystic kidney disease. Adv Chronic Kidney Dis. 2010; 17: 173-80
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5)Pirson Y, Chauveau D, Torres V. Management of cerebral aneurysms in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2002; 13: 269-76
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6)Kumar S, Adeva M, King BF, et al. Duodenal diverticulosis in autosomal dominant polycystic kidney disease. Nephrol Dial Transplant. 2006; 21: 3576-8
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7)Pirson Y. Extrarenal manifestations of autosomal dominant polycystic kidney disease. Adv Chronic Kidney Dis. 2010; 17: 173-80
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8)「エビデンスに基づく多発性嚢胞腎診療ガイドライン2014」日本腎臓学会誌. 2014; 56: 1105-87
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9)花岡一成. 常染色体優性多発性嚢胞腎の遺伝子診断. 腎と透析. 2014; 77: 729-34
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10)European Polycystic Kidney Disease Consortium. The polycystic kidney disease1 gene encodes a 14kb transcript and lies within a duplicated region on chromosome 16. Cell. 1994; 77: 881-94
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11)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: 151-60
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14)Qian F, Germino FJ, Cai Y, et al. PKD1 interacts with PKD2 through a probable coiled-coil domain. Nat Genet. 1997; 16: 179-83
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15)Tsiokas L, Kim E, Arnould T, et al. Homo-and heterodimeric interactions between the gene products of PKD1 and PKD2. Proc Natl Acad Sci U S A. 1997; 94: 6965-70.
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16)Hanaoka K, Qian F, Boletta A, et al. Co-assembly of polycystin-1 and -2 produces unique cation-permeable currents. Nature. 2000; 408: 990-4
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17)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: 2508-16
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18)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: 129-37
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19)Sharif-Naeini R, Folgering JH, Bichet D, et al. Polycystin-1 and -2 dosage regulates pressure sensing. Cell. 2009; 139: 587-96
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20)Harris PC, Torres VE. Genetic mechanisms and signaling pathways in autosomal dominant polycystic kidney disease. J Clin Invest. 2014; 124: 2315-24
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21)Torra R, Badenas C, Damell A, et al. Linkage, clinical features, and prognosis of autosomal dominant polycystic kidney disease type 1 and 2. J Am Soc Nephrol. 1996; 7: 2142-51
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22)Gall EC, Audrezet MP, Chen JM, et al. Type of PKD1 mutation influences renal outcome in ADPKD. J Am Soc Nephrol. 2013; 24: 1006-13
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23)Bogdanova N, Dworniczak B, Dragova D, et al. Genetic heterogeneity of polycystic kidney disease in Bulgaria. Hum Genet. 1995; 95: 645-50
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24)Daoust MC, Reynolds DM, Bichet DG, et al. Evidence for a third genetic locus for autosomal dominant polycystic kidney disease. Genomics. 1995; 25: 733-6
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25)Ariza M, Alvarez V, Marín R, et al. A family with a milder form of adult dominant polycystic kidney disease not linked to the PKD1 (16p) or PKD2 (4q) genes. J Med Genet. 1997; 34: 587-9
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26)Paul BM, Consugar MB, Ryan Lee M, et al. Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families. Kidney Int. 2014; 85: 383-92
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27)Peral B, Ward CJ, San Millán JL, et al. Evidence of linkage disequilibrium in the Spanish polycystic kidney disease I population. Am J Hum Genet. 1994; 54: 899-908
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28)Peters DJ, Spruit L, Saris JJ, et al. Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease. Nat Genet. 1993; 5: 359-62
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29)Reed B, McFann K, Kimberling WJ, et al. Presence of de novo mutations in autosomal dominant polycystic kidney disease patients without family history. Am J Kidney Dis. 2008; 52: 1042-50
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30)Connor A, Lunt PW, Dolling C, et al. Mosaicism in autosomal dominant polycystic kidney disease revealed by genetic testing to enable living related renal transplantation. Am J Transplant. 2008; 8: 232-7
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31)Rossetti S, Kubly VJ, Consugar MB, et al. Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. Kidney Int. 2009; 75: 848-55
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32)Zhao X, Paterson AD, Zahirieh A, et al. Molecular diagnostics in autosomal dominant polycystic kidney disease: utility and limitations. Clin J Am Soc Nephrol. 2007; 3: 146-52
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33)Rossetti S, Consugar MB, Chapman AB, et al. Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2007; 18: 2143-60
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34)Garcia-Gonzalez MA, Jones JG, Allen SK, et al. Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease. Mol Genet Metab. 2007; 92: 160-7
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35)Harris PC, Rossetti S. Molecular diagnostics autosomal dominant polycystic kidney disease. Nat Rev Nephrol. 2010; 6: 197-206
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36)Loftus BJ, Kim UJ, Sneddon VP, et al. Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. Genomics. 1999; 60: 295-308
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37)Martin J, Han C, Gordon LA, et al. The sequence and analysis of duplication-rich human chromosome 16. Nature. 2004; 432: 988-94
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38)Phakdeekitcharoen B, Watnick TJ, Germino GG. Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples. J Am Soc Nephrol. 2001; 12: 955-63
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39)Consugar MB, Wong WC, Lundquist PA, et al. Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome. Kidney Int. 2008; 74: 1468-79
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40)Brook-Carter PT, Peral B, Ward CJ, et al. Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome. Nat Genet. 1994; 8: 328-32
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41)Barua M, Cil O, Paterson AD, et al. Family history of renal disease severity predicts the mutated gene in ADPKD. J Am Soc Nephrol. 2009; 20: 1833-8
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42)Audrézet MP, Cornec-Le Gall E, Chen JM, et al. Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. Hum Mutat. 2012; 33: 1239-50
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43)Kurashige M, Hanaoka K, Imamura M, et al. A comprehensive search for mutations in the PKD1 and PKD2 in Japanese subjects with autosomal dominant polycystic kidney disease. Clin Genet (on line)3 April 2014; DOI : 10.1111/cge.12372 [Epub ahead of print]
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44)Gout AM, Martin NC, Brown AF, et al. PKDB: Polycystic kidney disease mutation database--a gene variant database for autosomal dominant polycystic kidney disease. Hum Mutat. 2007; 28: 654-9
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45)Tan YC, Michaeel A, Blumenfeld J, et al. A novel long-range PCR sequencing method for genetic analysis of the entire PKD1 gene. J Mol Diagn. 2012; 14: 305-13
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46)Rossetti S, Hopp K, Sikkink RA, et al. Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing. J Am Soc Nephrol. 2012; 23: 915-33
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47)Tan AY, Michaeel A, Liu G, at al. Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing. J Mol Diagn. 2014; 16: 216-28
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48)Yang T, Meng Y, Wei X, at al. Identification of novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease by targeted next-generation sequencing. Clin Chim Acta. 2014; 433: 12-9
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49)Garcia-Gonzalez MA, Jones JG, Allen SK, et al. Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease. Mol Genet Metab. 2007; 92: 160-7
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医中誌リンクサービス
50)Zhao X, Paterson AD, Zahirieh A, et al. Molecular diagnostics in autosomal dominant polycystic kidney disease: utility and limitations. Clin J Am Soc Nephrol. 2008; 3: 146-52
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51)Kanaan N, Devuyst O, Pirson Y. Renal transplantation in autosomal dominant polycystic kidney disease. Nat Rev Nephrol. 2014; 10: 455-65
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52)Torres VE, Harris PC. Strategies targeting cAMP signaling in the treatment of polycystic kidney disease. J Am Soc Nephrol. 2014; 25: 18-32
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53)Devuyst O, Torres VE. Osmoregulation, vasopressin, and cAMP signaling in autosomal dominant polycystic kidney disease. Curr Opin Nephrol Hypertens. 2013; 22: 459-70
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54)Hanaoka K, Guggino WB. cAMP regulates cell proliferation and cyst formation in autosomal polycystic kidney disease cells. J Am Soc Nephrol. 2000; 11: 1179-87
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55)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: 1460-71
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56)Hanaoka K, Devuyst O, Schwiebert EM, et al. A role for CFTR in human autosomal dominant polycystic kidney disease. Am J Physiol. 1996; 270: C389-99
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57)Torres VE. Role of vasopressin antagonists. Clin J Am Soc Nephrol. 2008; 3: 1212-8
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58)Decaux G, Soupart A, Vassart G. Non-peptide arginine-vasopressin antagonists: the vaptans. Lancet. 2008; 371: 1624-32
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59)Gattone VH 2nd, Wang X, Harris PC, et al. Inhibition of renal cystic disease development and progression by a vasopressin V2 receptor antagonist. Nat Med. 2003; 9: 1323-6
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60)Wang X, Gattone V 2nd, Harris PC, et al. Effectiveness of vasopressin V2 receptor antagonists OPC-31260 and OPC-41061 on polycystic kidney disease development in the PCK rat. J Am Soc Nephrol. 2005; 16: 846-51
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61)Gattone VH 2nd, Wang X, Harris PC. Inhibition of renal cystic disease development and progression by a vasopressin V2 receptor antagonist. Nat Med. 2003; 9: 1323-6
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62)Torres VE, Wang X, Qian Q, et al. Effective treatment of an orthologous model of autosomal dominant polycystic kidney disease. Nat Med. 2004; 10: 363-4
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63)Torres VE, Chapman AB, Devuyst O, et al. Tolvaptan in patients with autosomal dominant polycystic kidney disease. N Engl J Med. 2012; 367: 2407-18
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64)Rahbari-Oskoui F, Williams O, Chapman A. Mechanisms and management of hypertension in autosomal dominant polycystic kidney disease. Nephrol Dial Transplant. 2014; 29: 2194-201
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77)日本医学会「医療における遺伝学的検査・診断に関するガイドライン」(2011年2月)
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