[1] A.B. Chapman, O. Devuyst, K.-U. Eckardt, et al., Autosomal dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference, Kidney Int. 88 (2015) 17-27.
[2] E. Higashihara, K. Nutahara, M. Kojima, et al., Prevalence and renal prognosis of diagnosed autosomal dominant polycystic kidney disease in Japan, Nephron 80 (1998) 421-427.
[3] 日本透析医学会：わが国の慢性透析療法の現況．2019年末の慢性透析患者に関する集計．
[4] 成田一衛（監修）．エビデンスに基づく多発性嚢胞腎PKD診療ガイドライン2020．東京医学社2020．
[5] K. Skorecki, G.M. Chertow, P.A. Marsden, et al., Brenner and Rector's The Kidney, 10th ed. ELSEVIER 2015.
[6] C. Bergmann, L.M. Guay-Woodford, P.C. Harris, S. Horie, D.J.M. Peters and V.E. Torres. Polycystic kidney disease, Nat. Rev. Dis. Primers 4 (2018) 50.
[7] V.E. Torres, A.B. Chapman, O. Devuyst, et al., Tolvaptan in patients with autosomal dominant polycystic kidney disease, N. Engl. J. Med. 367 (2012) 2407-2418.
[8] E. Cornec-Le Gall, M.P. Audrézet, Y. Le Meur, et al., Genetics and pathogenesis of autosomal dominant polycystic kidney disease: 20 years on, Hum. Mutat. 35 (2014) 1393-1406.
[9] E. Cornec-Le Gall, V.E. Torres and P.C. Harris. Genetic complexity of autosomal dominant polycystic kidney and liver disease, J. Am. Soc. Nephrol. 29 (2018) 13-23.
[10] F. Qian, F.J. Germino, Y. Cai, et al., PKD1 interacts with PKD2 through a probable coiled-coil domain, Nat. Genet. 16 (1997) 179-183.
[11] J. Kaspareit-Rittinghausen, K. Rapp, F. Deerberg, et al., Hereditary polycystic kidney disease associated with osteorenal syndrome in rats, Vet. Pathol. 26 (1989) 195-201.
[12] M. Katsuyama, T. Masuyama, I. Komura, et al., Characterization of a novel polycystic kidney rat model with accompanying polycystic liver, Exp. Anim. 49 (2000) 51–55.
[13] H. Takahashi, J.P. Calvet, D. Dittemore-Hoover, et al., A hereditary model of slowly progressive polycystic kidney disease in the mouse, J. Am. Soc. Nephrol. 1 (1991) 980-989.
[14] S. Nagao, M. Kugita, D. Yoshihara and T. Yamaguchi, Animal models for human PKD, Exp. Anim. 61 (2012) 477-488.
[15] S. Muto, A. Aiba, Y. Saito, et al., Pioglitazone improves the phenotype and molecular defects of a targeted Pkd1 mutant, Hum. Mol. Genet. 11 (2002) 1731-1742.
[16] S. Shibazaki, Z. Yu, S. Nishio, et al., Cyst formation and activation of the extracellular regulated kinase pathway after kidney specific inactivation of Pkd1, Hum. Mol. Genet. 17 (2008) 1505-1516.
[17] V. Patel, L. Li, P. Cobo-Stark, et al., Acute kidney injury and aberrant planar cell polarity induce cyst formation in mice lacking renal cilia, Hum. Mol. Genet. 17 (2008) 1578-1590.
[18] M, Ma, X. Tian, P. Igarashi, et al., Loss of cilia suppresses cyst growth in genetic models of autosomal dominant polycystic kidney disease, Nat. Genet. 45 (2013) 1004-1012.
[19] H. Happé and D.J.M. Peters, Translational research in ADPKD: lessons from animal models, Nat. Rev. Nephrol. 10 (2014) 587-601.
[20] W. Lu, X. Fan, N. Basora, et al., Late onset of renal and hepatic cysts in Pkd1-targeted heterozygotes, Nat. Genet. 21 (1999) 160-161.
[21] T. Nadasdy, Z. Laszik, G. Lajoie, et al., Proliferative activity of cyst epithelium in human renal cystic diseases, J. Am. Soc. Nephrol. 5 (1995) 1462-1468.
[22] X. Song, V. Di Giovanni, N. He, et al., Systems biology of autosomal dominant polycystic kidney disease (ADPKD): computational identification of gene expression pathways and integrated regulatory networks, Hum. Mol. Genet. 18 (2009) 2328-2343.
[23] P.D. Wilson, R.W. Schrier, R.D. Breckon and P.A. Gabow, A new method for studying human polycystic kidney disease epithelia in culture, Kidney Int. 30 (1986) 371-378.
[24] M. Loghman-Adham, S.M. Nauli, C.E. Soto, et al., Immortalized epithelial cells from human autosomal dominant polycystic kidney cysts, Am. J. Physiol. Renal Physiol. 285 (2003) F397-F412.
[25] D.P. Wallace, J.J. Grantham and L.P. Sullivan, Chloride and fluid secretion by cultured human polycystic kidney cells, Kidney Int. 50 (1996) 1327-1336.
[26] T.H. Booij, L.S. Price and E.H.J. Danen, 3D Cell-Based Assays for Drug Screens: Challenges in Imaging, Image Analysis, and High-Content Analysis, SLAS Discov. 24 (2019) 615-627.
[27] T. Tsukiyama, K. Kobayashi, M. Nakaya, et al., Monkeys mutant for PKD1 recapitulate human autosomal dominant polycystic kidney disease, Nat. Commun. 10 (2019) 5517.
[28] V.E. Torres and P.C. Harris, Strategies targeting cAMP signaling in the treatment of polycystic kidney disease, J. Am. Soc. Nephrol. 25 (2014) 18- 32.
[29] T. Seeger-Nukpezah, D.M. Geynisman, A.S. Nikonova, et al., The hallmarks of cancer: relevance to the pathogenesis of polycystic kidney disease, Nat. Rev. Nephrol. 11 (2015) 515-534.
[30] M. Ma, A.-R. Gallagher and S. Somlo, Ciliary Mechanisms of Cyst Formation in Polycystic Kidney Disease, Cold Spring Harb. Perspect. Biol. 9 (2017) a028209.
[31] V. Padovano, C. Podrini, A. Boletta and M.J. Caplan, Metabolism and mitochondria in polycystic kidney disease research and therapy, Nat. Rev. Nephrol. 14 (2018) 678-687.
[32] L.F. Menezes and G.G. Germino, The pathobiology of polycystic kidney disease from a metabolic viewpoint, Nat. Rev. Nephrol. 15 (2019) 735-749.
[33] M.B. Lanktree, A. Haghighi, I. di Bari, et al., Insights into Autosomal Dominant Polycystic Kidney Disease from Genetic Studies, Clin. J. Am. Soc. Nephrol. 16 (2021) 790-799.
[34] F.T. Chebib, C.R. Sussman, X. Wang, et al., Vasopressin and disruption of calcium signalling in polycystic kidney disease, Nat. Rev. Nephrol. 11 (2015) 451-464.
[35] S.M. Nauli, F.J. Alenghat, Y. Luo, et al., Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells, Nat. Genet. 33 (2003) 129-137.
[36] S.M. Nauli, S. Rossetti, R.J. Kolb, et al., Loss of polycystin-1 in human cyst-lining epithelia leads to ciliary dysfunction, J. Am. Soc. Nephrol. 17 (2006) 1015-1025.
[37] M. Delling, P.G. DeCaen, J.F. Doerner, et al., Primary cilia are specialized calcium signalling organelles, Nature 504 (2013) 311-314.
[38] T. Yamaguchi, S.J. Hempson, G.A. Reif, et al., Calcium restores a normal proliferation phenotype in human polycystic kidney disease epithelial cells, J. Am. Soc. Nephrol. 17 (2006) 178-187.
[39] C. Xu, S. Rossetti, L. Jiang, 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 (2007) F930-945.
[40] T. Yamaguchi, S. Nagao, M. Kasahara, et al., Renal accumulation and excretion of cyclic adenosine monophosphate in a murine model of slowly progressive polycystic kidney disease, Am. J. Kidney Dis. 30 (1997) 703- 709.
[41] A.K. Ahrabi, F. Jouret, E. Marbaix, et al., Glomerular and proximal tubule cysts as early manifestations of Pkd1 deletion, Nephrol. Dial. Transplant. 25 (2010) 1067-1078.
[42] K. Hopp, C.J. Ward, C.J. Hommerding, et al., Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity, J. Clin. Invest. 122 (2012) 4257-4273.
[43] T.V. Masyuk, A.I. Masyuk, V.E. Torres, et al., Octreotide inhibits hepatic cystogenesis in a rodent model of polycystic liver disease by reducing cholangiocyte adenosine 3′,5′-cyclic monophosphate, Gastroenterology 132 (2007) 1104-1116.
[44] S.N. Kip, L.W. Hunter, Q. Ren, et al., [Ca2+]i reduction increases cellular proliferation and apoptosis in vascular smooth muscle cells: relevance to the ADPKD phenotype, Circ. Res. 96 (2005) 873-880.
[45] Y.-H. Choi, A. Suzuki, S. Hajarnis, et al., Polycystin-2 and phosphodiesterase 4C are components of a ciliary A-kinase anchoring protein complex that is disrupted in cystic kidney diseases, Proc. Natl. Acad. Sci. USA 108 (2011) 10679-10684.
[46] S. Rees, W. Kittikulsuth, K. Roos, et al., Adenylyl cyclase 6 deficiency ameliorates polycystic kidney disease, J. Am. Soc. Nephrol. 25 (2014) 232- 237.
[47] Q. Wang, P. Cobo-Stark, V. Patel, et al., Adenylyl cyclase 5 deficiency reduces renal cyclic AMP and cyst growth in an orthologous mouse model of polycystic kidney disease, Kidney Int. 93 (2018) 403-415.
[48] K. Hopp, C.J. Hommerding, X. Wang, et al., Tolvaptan plus pasireotide shows enhanced efficacy in a PKD1 model, J. Am. Soc. Nephrol. 26 (2015) 39-47.
[49] K. Hanaoka and W.B. Guggino, cAMP regulates cell proliferation and cyst formation in autosomal polycystic kidney disease cells, J. Am. Soc. Nephrol. 11 (2000) 1179-1187.
[50] T. Yamaguchi, S. Nagao, D.P. Wallace, et al., Cyclic AMP activates B-Raf and ERK in cyst epithelial cells from autosomal-dominant polycystic kidneys, Kidney Int. 63 (2003) 1983-1994.
[51] T. Yamaguchi, D.P. Wallace, B.S. Magenheimer, et al., Calcium restriction allows cAMP activation of the B-Raf/ERK pathway, switching cells to a cAMP-dependent growth-stimulated phenotype, J. Biol. Chem. 279 (2004) 40419-40430.
[52] K. Hanaoka, O. Devuyst, E. Schwiebert, et al., A role for CFTR in human autosomal dominant polycystic kidney disease, Am. J. Physiol. 270 (1996) C389-C399.
[53] O. Ibraghimov-Beskrovnaya and T.A. Natoli, mTOR signaling in polycystic kidney disease, Trends Mol. Med. 17 (2011) 625-633.
[54] J.M. Shillingford, K.B. Piontek, G.G. Germino and T. Weimbs, Rapamycin ameliorates PKD resulting from conditional inactivation of Pkd1, J. Am. Soc. Nephrol. 21 (2010) 489-497.
[55] A.L. Serra, D. Poster, A.D. Kistler, et al., Sirolimus and kidney growth in autosomal dominant polycystic kidney disease, N. Engl. J. Med. 363 (2010) 820-829.
[56] G. Walz, K. Budde, M. Mannaa, et al., Everolimus in patients with autosomal dominant polycystic kidney disease, N. Engl. J. Med. 363 (2010) 830-840.
[57] G. Canaud, B. Knebelmann, P.C. Harris, et al., Therapeutic mTOR inhibition in autosomal dominant polycystic kidney disease: What is the appropriate serum level?, Am. J. Transplant. 10 (2010) 1701-1706.
[58] F. Qian, T.J. Watnick, L.F. Onuchic, et al., The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type 1, Cell 87 (1996) 979-987.
[59] T.J. Watnick, V.E. Torres, M.A. Gandolph, et al., Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease, Mol. Cell 2 (1998) 247-251.
[60] Q. Qian, L.W. Hunter, M. Li, et al., Pkd2 haploinsufficiency alters intracellular calcium in vascular smooth muscle cells, Hum. Mol. Genet. 12 (2003) 1875-1880.
[61] N. Morel, G. Vandenberg, A.K. Ahrabi, et al., PKD1 haploinsufficiency is associated with altered vascular reactivity and abnormal calcium signaling in the mouse aorta, Pflugers Arch. 457 (2009) 845-856.
[62] M.Y. Chang, E. Parker, S. Ibrahim, et al., Haploinsufficiency of Pkd2 is associated with increased tubular cell proliferation and interstitial fibrosis in two murine Pkd2 models. Nephrol. Dial. Transplant. 21 (2006) 2078-2084.
[63] A. Taguchi, Y. Kaku, T. Ohmori, et al., Redefining the in vivo origin of metanephric nephron progenitors enables generation of complex kidney structures from pluripotent stem cells, Cell Stem Cell 14 (2014) 53-67.
[64] M. Takasato, P.X. Er, H.S. Chiu, et al., Kidney organoids from human iPS cells contain multiple lineages and model human nephrogenesis, Nature 526 (2015) 564-568.
[65] R. Morizane, A.Q. Lam, B.S. Freedman, et al., Nephron organoids derived from human pluripotent stem cells model kidney development and injury, Nature Biotechnol. 33 (2015) 1193-1200.
[66] H. Tsujimoto, T. Kasahara, S.-I. Sueta, et al., A modular differentiation system maps multiple human kidney lineages from pluripotent stem cells, Cell Rep, 31 (2020) 107476.
[67] F. Costantini and R. Kopan, Patterning a complex organ: branching morphogenesis and nephron segmentation in kidney development, Dev. Cell 18 (2010) 698-712.
[68] A. Kobayashi, M.T. Valerius, J.W. Mugford, et al., Six2 defines and regulates a multipotent self-renewing nephron progenitor population throughout mammalian kidney development, Cell Stem Cell 3 (2008) 169- 181.
[69] S.E. Howden, S.B. Wilson, E. Groenewegen, et al., Plasticity of distal nephron epithelia from human kidney organoids enables the induction of ureteric tip and stalk, Cell Stem Cell 28 (2021) 671-684.
[70] E. Garreta, P. Prado, C. Tarantino, et al., Fine tuning the extracellular environment accelerates the derivation of kidney organoids from human pluripotent stem cells, Nature Mater. 18 (2019) 397-405.
[71] J.H. Low, P. Li, E.G.Y. Chew, et al., Generation of human PSC-derived kidney organoids with patterned nephron segments and a de novo vascular network, Cell Stem Cell 25 (2019) 373-387.
[72] A. Subramanian, E.-H. Sidhom, M. Emani, et al., Single cell census of human kidney organoids shows reproducibility and diminished off-target cells after transplantation, Nature Commun. 10 (2019) 5462.
[73] P. Karagiannis, K. Takahashi, M. Saito, et al., Induced Pluripotent Stem Cells and Their Use in Human Models of Disease and Development, Physiol. Rev. 99 (2019) 79-114.
[74] T.A. Forbes, S.E. Howden, K. Lawlor, et al., Patient-iPSC-derived kidney organoids show functional validation of a ciliopathic renal phenotype and reveal underlying pathogenetic mechanisms, Am. J. Hum. Genet. 102 (2018) 816-831.
[75] B.S. Freedman, C.R. Brooks, A.Q. Lam, et al., Modelling kidney disease with CRISPR-mutant kidney organoids derived from human pluripotent epiblast spheroids, Nat. Commun. 6 (2015) 8715.
[76] N.M. Cruz, X. Song, S.M. Czerniecki, et al., Organoid cystogenesis reveals a critical role of microenvironment in human polycystic kidney disease, Nat. Mater. 16 (2017) 1112-1119.
[77] S.M. Czerniecki, N.M. Cruz, J.L. Harder, et al., High-throughput screening enhances kidney organoid differentiation from human pluripotent stem cells and enables automated multidimensional phenotyping, Cell Stem Cell 22 (2018) 929-940.
[78] K. Okita, T. Yamakawa, Y. Matsumura, et al., An efficient nonviral method to generate integration-free human-induced pluripotent stem cells from cord blood and peripheral blood cells, Stem Cells 31 (2013) 458-466.
[79] T. Toyohara, S.-I. Mae, S.-I. Sueta, et al., Cell therapy using human induced pluripotent stem cell-derived renal progenitors ameliorates acute kidney injury in mice, Stem Cells Transl. Med. 4 (2015) 980-992.
[80] T. Ameku, D. Taura, M. Sone, et al., Identification of MMP1 as a novel risk factor for intracranial aneurysms in ADPKD using iPSC models, Sci. Rep. 6 (2015) 30013.
[81] K. Ishida, H. Xu, N. Sasakawa, et al., Site-specific randomization of the endogenous genome by a regulatable CRISPR-Cas9 piggyBac system in human cells, Sci. Rep. 8 (2018) 310.
[82] W. Lu, B. Peissel, H. Babakhanlou, et al., Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation, Nat. Genet. 17 (1997) 179-181.
[83] T.A. Natoli, T.C. Gareski, W.R. Dackowski, et al., Pkd1 and Nek8 mutations affect cell-cell adhesion and cilia in cysts formed in kidney organ cultures, Am. J. Physiol. Renal Physiol. 294 (2008) F73-83.
[84] K. Jansson, A.-N.T. Nguyen, B.S. Magenheimer, et al., Endogenous concentrations of ouabain act as a cofactor to stimulate fluid secretion and cyst growth of in vitro ADPKD models via cAMP and EGFR-Src-MEK pathways, Am. J. Physiol. Renal Physiol. 303 (2012) F982-990.
[85] S. Nishio, M. Hatano, M. Nagata, et al., Pkd1 regulates immortalized proliferation of renal tubular epithelial cells through p53 induction and JNK activation, J. Clin. Invest. 115 (2005) 910-918.
[86] B. Yang, N.D. Sonawane, D. Zhao, et al., Small-molecule CFTR inhibitors slow cyst growth in polycystic kidney disease, J. Am. Soc. Nephrol. 19 (2008) 1300-1310.
[87] S. Kuraoka, S. Tanigawa, A. Taguchi, et al. PKD1-dependent renal cystogenesis in human induced pluripotent stem cell-derived ureteric bud/collecting duct organoids. J. Am. Soc. Nephrol. 31 (2020) 2355-2371.
[88] R.D. Gilbert, P. Sukhtankar, K. Lachlan and D.J. Fowler, Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease, Pediatr. Nephrol. 28 (2013) 2217-2220.
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