메뉴 건너뛰기




Volumn 10, Issue 12, 2014, Pages 687-699

An approach to cystic kidney diseases: The clinician's view

Author keywords

[No Author keywords available]

Indexed keywords

BARDET BIEDL SYNDROME; CLINICAL EVALUATION; COST EFFECTIVENESS ANALYSIS; DIFFERENTIAL DIAGNOSIS; GENETIC SCREENING; HUMAN; JOUBERT SYNDROME; KIDNEY POLYCYSTIC DISEASE; KIDNEY SIZE; MEDICAL DECISION MAKING; MEDULLARY SPONGE KIDNEY; MOLECULAR GENETICS; NEPHROLOGIST; NEPHRONOPHTHISIS; PATHOPHYSIOLOGY; PHENOTYPE; REVIEW; SENIOR LOKEN SYNDROME; TUBEROUS SCLEROSIS; VON HIPPEL LINDAU DISEASE; COMPUTER ASSISTED TOMOGRAPHY; DISEASE COURSE; EPIDEMIOLOGY; FEMALE; GENETIC PREDISPOSITION; GENETICS; IMMUNOHISTOCHEMISTRY; KIDNEY DISEASES, CYSTIC; MALE; MULTIMODAL IMAGING; NEEDLE BIOPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; PROCEDURES; PROGNOSIS; RISK ASSESSMENT; SEVERITY OF ILLNESS INDEX;

EID: 84911960390     PISSN: 17595061     EISSN: 1759507X     Source Type: Journal    
DOI: 10.1038/nrneph.2014.173     Document Type: Review
Times cited : (18)

References (154)
  • 3
    • 63049116544 scopus 로고    scopus 로고
    • The vertebrate primary cilium in development, homeostasis, and disease
    • Gerdes, J. M., Davis, E. E. & Katsanis, N. The vertebrate primary cilium in development, homeostasis, and disease. Cell 137, 32-45 (2009).
    • (2009) Cell , vol.137 , pp. 32-45
    • Gerdes, J.M.1    Davis, E.E.2    Katsanis, N.3
  • 5
    • 84867139151 scopus 로고    scopus 로고
    • A systems-biology approach to understanding the ciliopathy disorders
    • Lee, J. E. & Gleeson, J. G. A systems-biology approach to understanding the ciliopathy disorders. Genome Med. 3, 59 (2011).
    • (2011) Genome Med. , vol.3 , pp. 59
    • Lee, J.E.1    Gleeson, J.G.2
  • 6
    • 84901391094 scopus 로고    scopus 로고
    • Wnt and planar cell polarity signaling in cystic renal disease
    • Goggolidou, P. Wnt and planar cell polarity signaling in cystic renal disease. Organogenesis 10, 86-95 (2013).
    • (2013) Organogenesis , vol.10 , pp. 86-95
    • Goggolidou, P.1
  • 7
    • 84887135056 scopus 로고    scopus 로고
    • Expanding horizons: Ciliary proteins reach beyond cilia
    • Yuan, S. & Sun, Z. Expanding horizons: ciliary proteins reach beyond cilia. Annu. Rev. Genet. 47, 353-376 (2013).
    • (2013) Annu. Rev. Genet. , vol.47 , pp. 353-376
    • Yuan, S.1    Sun, Z.2
  • 8
    • 78149296423 scopus 로고    scopus 로고
    • CEP290, a gene with many faces: Mutation overview and presentation of CEP290base
    • Coppieters, F., Lefever, S., Leroy, B. P. & De Baere, E. CEP290, a gene with many faces: mutation overview and presentation of CEP290base. Hum. Mutat. 31, 1097-1108 (2010).
    • (2010) Hum. Mutat. , vol.31 , pp. 1097-1108
    • Coppieters, F.1    Lefever, S.2    Leroy, B.P.3    De Baere, E.4
  • 9
    • 67649841563 scopus 로고    scopus 로고
    • Autosomal dominant polycystic kidney disease: The last 3 years
    • Torres, V. E. & Harris, P. C. Autosomal dominant polycystic kidney disease: the last 3 years. Kidney Int. 76, 149-168 (2009).
    • (2009) Kidney Int. , vol.76 , pp. 149-168
    • Torres, V.E.1    Harris, P.C.2
  • 10
    • 67249091839 scopus 로고    scopus 로고
    • Polycystic kidney disease
    • Harris, P. C. & Torres, V. E. Polycystic kidney disease. Annu. Rev. Med. 60, 321-337 (2009).
    • (2009) Annu. Rev. Med. , vol.60 , pp. 321-337
    • Harris, P.C.1    Torres, V.E.2
  • 11
    • 0027983511 scopus 로고
    • End-stage renal failure appears earlier in men than in women with polycystic kidney disease
    • Stewart, J. H. End-stage renal failure appears earlier in men than in women with polycystic kidney disease. Am. J. Kidney Dis. 24, 181-183 (1994).
    • (1994) Am. J. Kidney Dis. , vol.24 , pp. 181-183
    • Stewart, J.H.1
  • 12
    • 77950462459 scopus 로고    scopus 로고
    • Genetic kidney diseases
    • Hildebrandt, F. Genetic kidney diseases. Lancet 375, 1287-1295 (2010).
    • (2010) Lancet , vol.375 , pp. 1287-1295
    • Hildebrandt, F.1
  • 13
    • 34047276812 scopus 로고    scopus 로고
    • Autosomal dominant polycystic kidney disease
    • Torres, V. E., Harris, P. C. & Pirson, Y. Autosomal dominant polycystic kidney disease. Lancet 369, 1287-1301 (2007).
    • (2007) Lancet , vol.369 , pp. 1287-1301
    • Torres, V.E.1    Harris, P.C.2    Pirson, Y.3
  • 14
    • 36849005602 scopus 로고    scopus 로고
    • Sensitive cilia set up the kidney
    • Kim, E. & Walz, G. Sensitive cilia set up the kidney. Nat. Med. 13, 1409-1411 (2007).
    • (2007) Nat. Med. , vol.13 , pp. 1409-1411
    • Kim, E.1    Walz, G.2
  • 15
    • 84896705717 scopus 로고    scopus 로고
    • Extra-renal manifestations of ADPKD: Considerations for routine screening and management
    • Luciano, R. L. & Dahl, N. K. Extra-renal manifestations of ADPKD: considerations for routine screening and management. Nephrol. Dial. Transplant. 29, 247-254.
    • Nephrol. Dial. Transplant. , vol.29 , pp. 247-254
    • Luciano, R.L.1    Dahl, N.K.2
  • 16
    • 33746544244 scopus 로고    scopus 로고
    • Water for ADPKD? Probably, yes
    • Torres, V. E. Water for ADPKD? Probably, yes. J. Am. Soc. Nephrol. 17, 2089-2091 (2006).
    • (2006) J. Am. Soc. Nephrol. , vol.17 , pp. 2089-2091
    • Torres, V.E.1
  • 17
    • 1942486801 scopus 로고    scopus 로고
    • Effective treatment of an orthologous model of autosomal dominant polycystic kidney disease
    • Torres, V. E. et al. Effective treatment of an orthologous model of autosomal dominant polycystic kidney disease. Nat. Med. 10, 363-364 (2004).
    • (2004) Nat. Med. , vol.10 , pp. 363-364
    • Torres, V.E.1
  • 18
    • 33746566597 scopus 로고    scopus 로고
    • Increased water intake decreases progression of polycystic kidney disease in the PCK rat
    • Nagao, S. et al. Increased water intake decreases progression of polycystic kidney disease in the PCK rat. J. Am. Soc. Nephrol. 17, 2220-2227 (2006).
    • (2006) J. Am. Soc. Nephrol. , vol.17 , pp. 2220-2227
    • Nagao, S.1
  • 19
    • 0029058512 scopus 로고
    • Dietary protein restriction, blood pressure control, and the progression of polycystic kidney disease. Modification of Diet in Renal Disease Study Group
    • Klahr, S. 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. 5, 2037-2047 (1995).
    • (1995) J. Am. Soc. Nephrol. , vol.5 , pp. 2037-2047
    • Klahr, S.1
  • 20
    • 0033537164 scopus 로고    scopus 로고
    • Comparison of phenotypes of polycystic kidney disease types 1 and 2 European PKD1-PKD2 Study Group
    • Hateboer, N. et al. Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group. Lancet 353, 103-107 (1999).
    • (1999) Lancet , vol.353 , pp. 103-107
    • Hateboer, N.1
  • 21
    • 77949865316 scopus 로고    scopus 로고
    • Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy
    • O'Toole, J. F. et al. Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. J. Clin. Invest. 120, 791-802 (2010).
    • (2010) J. Clin. Invest. , vol.120 , pp. 791-802
    • O'Toole, J.F.1
  • 22
    • 84878699488 scopus 로고    scopus 로고
    • Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype
    • Hurd, T. W. et al. Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype. J. Am. Soc. Nephrol. 24, 967-977 (2013).
    • (2013) J. Am. Soc. Nephrol. , vol.24 , pp. 967-977
    • Hurd, T.W.1
  • 23
    • 0027429358 scopus 로고
    • An ultrasound renal cyst prevalence survey: Specificity data for inherited renal cystic diseases
    • Ravine, D., Gibson, R. N., Donlan, J. & Sheffield, L. J. An ultrasound renal cyst prevalence survey: specificity data for inherited renal cystic diseases. Am. J. Kidney Dis. 22, 803-807 (1993).
    • (1993) Am. J. Kidney Dis. , vol.22 , pp. 803-807
    • Ravine, D.1    Gibson, R.N.2    Donlan, J.3    Sheffield, L.J.4
  • 24
    • 79958126807 scopus 로고    scopus 로고
    • Drug discovery for polycystic kidney disease
    • Sun, Y., Zhou, H. & Yang, B. Drug discovery for polycystic kidney disease. Acta Pharmacol. Sin. 32, 805-816 (2011).
    • (2011) Acta Pharmacol. Sin. , vol.32 , pp. 805-816
    • Sun, Y.1    Zhou, H.2    Yang, B.3
  • 25
    • 0033948312 scopus 로고    scopus 로고
    • Loss of heterozygosity in renal and hepatic epithelial cystic cells from ADPKD1 patients
    • Badenas, C. et al. Loss of heterozygosity in renal and hepatic epithelial cystic cells from ADPKD1 patients. Eur. J. Hum. Genet. 8, 487-492 (2000).
    • (2000) Eur. J. Hum. Genet. , vol.8 , pp. 487-492
    • Badenas, C.1
  • 26
    • 33645769011 scopus 로고    scopus 로고
    • The mTOR pathway is regulated by polycystin 1, and its inhibition reverses renal cystogenesis in polycystic kidney disease
    • Shillingford, J. M. 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. 103, 5466-5471 (2006).
    • (2006) Proc. Natl Acad. Sci. USA. , vol.103 , pp. 5466-5471
    • Shillingford, J.M.1
  • 27
    • 0034123281 scopus 로고    scopus 로고
    • CAMP regulates cell proliferation and cyst formation in autosomal polycystic kidney disease cells
    • Hanaoka, K. & Guggino, W. B. cAMP regulates cell proliferation and cyst formation in autosomal polycystic kidney disease cells. J. Am. Soc. Nephrol. 11, 1179-1187 (2000).
    • (2000) J. Am. Soc. Nephrol. , vol.11 , pp. 1179-1187
    • Hanaoka, K.1    Guggino, W.B.2
  • 28
    • 0028894081 scopus 로고
    • In vitro fluid secretion by epithelium from polycystic kidneys
    • Grantham, J. J., Ye, M., Gattone, V. H. & Sullivan, L. P. In vitro fluid secretion by epithelium from polycystic kidneys. J. Clin. Invest. 95, 195-202 (1995).
    • (1995) J. Clin. Invest. , vol.95 , pp. 195-202
    • Grantham, J.J.1    Ye, M.2    Gattone, V.H.3    Sullivan, L.P.4
  • 29
    • 84891818486 scopus 로고    scopus 로고
    • Strategies targeting cAMP signaling in the treatment of polycystic kidney disease
    • Torres, V. E. & Harris, P. C. Strategies targeting cAMP signaling in the treatment of polycystic kidney disease. J. Am. Soc. Nephrol. 25, 18-32 (2014).
    • (2014) J. Am. Soc. Nephrol. , vol.25 , pp. 18-32
    • Torres, V.E.1    Harris, P.C.2
  • 30
    • 33748085676 scopus 로고    scopus 로고
    • Haploinsufficiency of Pkd2 is associated with increased tubular cell proliferation and interstitial fibrosis in two murine Pkd2 models
    • Chang, M. Y. et al. Haploinsufficiency of Pkd2 is associated with increased tubular cell proliferation and interstitial fibrosis in two murine Pkd2 models. Nephrol. Dial. Transplant. 21, 2078-2084 (2006).
    • (2006) Nephrol. Dial. Transplant. , vol.21 , pp. 2078-2084
    • Chang, M.Y.1
  • 32
    • 0030657608 scopus 로고    scopus 로고
    • Expression of polycystin in mouse metanephros and extra-metanephric tissues
    • Griffin, M. D. et al. Expression of polycystin in mouse metanephros and extra-metanephric tissues. Kidney Int. 52, 1196-1205 (1997).
    • (1997) Kidney Int. , vol.52 , pp. 1196-1205
    • Griffin, M.D.1
  • 33
    • 68849099883 scopus 로고    scopus 로고
    • Characterization of primary cilia in human airway smooth muscle cells
    • Wu, J. et al. Characterization of primary cilia in human airway smooth muscle cells. Chest 136, 561-570 (2009).
    • (2009) Chest , vol.136 , pp. 561-570
    • Wu, J.1
  • 34
    • 70350346866 scopus 로고    scopus 로고
    • Polycystin 1 and 2 dosage regulates pressure sensing
    • Sharif-Naeini, R. et al. Polycystin 1 and 2 dosage regulates pressure sensing. Cell 139, 587-596 (2009).
    • (2009) Cell , vol.139 , pp. 587-596
    • Sharif-Naeini, R.1
  • 35
    • 33745710680 scopus 로고    scopus 로고
    • Cholangiocyte cilia detect changes in luminal fluid flow and transmit them into intracellular Ca2+ and cAMP signaling
    • Masyuk, A. I. et al. Cholangiocyte cilia detect changes in luminal fluid flow and transmit them into intracellular Ca2+ and cAMP signaling. Gastroenterology 131, 911-920 (2006).
    • (2006) Gastroenterology , vol.131 , pp. 911-920
    • Masyuk, A.I.1
  • 36
    • 0025089548 scopus 로고
    • Congenital hepatic fibrosis in autosomal-dominant polycystic kidney disease
    • Cobben, J. M., Breuning, M. H., Schoots, C., ten Kate, L. P. & Zerres, K. Congenital hepatic fibrosis in autosomal-dominant polycystic kidney disease. Kidney Int. 38, 880-885 (1990).
    • (1990) Kidney Int. , vol.38 , pp. 880-885
    • Cobben, J.M.1    Breuning, M.H.2    Schoots, C.3    Ten Kate, L.P.4    Zerres, K.5
  • 37
    • 0028391224 scopus 로고
    • The spectrum of autosomal dominant polycystic kidney disease in children
    • Fick, G. M. et al. The spectrum of autosomal dominant polycystic kidney disease in children. J. Am. Soc. Nephrol. 4, 1654-1660 (1994).
    • (1994) J. Am. Soc. Nephrol. , vol.4 , pp. 1654-1660
    • Fick, G.M.1
  • 38
    • 33750689517 scopus 로고    scopus 로고
    • Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease
    • Harris, P. C. 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. 17, 3013-3019 (2006).
    • (2006) J. Am. Soc. Nephrol. , vol.17 , pp. 3013-3019
    • Harris, P.C.1
  • 39
    • 0036267868 scopus 로고    scopus 로고
    • Relationship between renal volume growth and renal function in autosomal dominant polycystic kidney disease: A longitudinal study
    • Fick-Brosnahan, G. M., Belz, M. M., McFann, K. K., Johnson, A. M. & Schrier, R. W. Relationship between renal volume growth and renal function in autosomal dominant polycystic kidney disease: a longitudinal study. Am. J. Kidney Dis. 39, 1127-1134 (2002).
    • (2002) Am. J. Kidney Dis. , vol.39 , pp. 1127-1134
    • Fick-Brosnahan, G.M.1    Belz, M.M.2    McFann, K.K.3    Johnson, A.M.4    Schrier, R.W.5
  • 40
    • 0030661807 scopus 로고    scopus 로고
    • Identification of patients with autosomal dominant polycystic kidney disease at highest risk for end-stage renal disease
    • Johnson, A. M. & Gabow, P. A. Identification of patients with autosomal dominant polycystic kidney disease at highest risk for end-stage renal disease. J. Am. Soc. Nephrol. 8, 1560-1567 (1997).
    • (1997) J. Am. Soc. Nephrol. , vol.8 , pp. 1560-1567
    • Johnson, A.M.1    Gabow, P.A.2
  • 41
    • 79953011165 scopus 로고    scopus 로고
    • Potentially modifiable factors affecting the progression of autosomal dominant polycystic kidney disease
    • Torres, V. E. et al. Potentially modifiable factors affecting the progression of autosomal dominant polycystic kidney disease. Clin. J. Am. Soc. Nephrol. 6, 640-647 (2011).
    • (2011) Clin. J. Am. Soc. Nephrol. , vol.6 , pp. 640-647
    • Torres, V.E.1
  • 42
    • 84904552964 scopus 로고    scopus 로고
    • Does increased water intake prevent disease progression in autosomal dominant polycystic kidney disease?
    • Higashihara, E. et al. Does increased water intake prevent disease progression in autosomal dominant polycystic kidney disease? Nephrol. Dial. Transplant. 29, 1710-1719 (2014).
    • (2014) Nephrol. Dial. Transplant. , vol.29 , pp. 1710-1719
    • Higashihara, E.1
  • 43
    • 0038417918 scopus 로고    scopus 로고
    • High urine volume and low urine osmolality are risk factors for faster progression of renal disease
    • Hebert, L. A., Greene, T., Levey, A., Falkenhain, M. E. & Klahr, S. High urine volume and low urine osmolality are risk factors for faster progression of renal disease. Am. J. Kidney Dis. 41, 962-971 (2003).
    • (2003) Am. J. Kidney Dis. , vol.41 , pp. 962-971
    • Hebert, L.A.1    Greene, T.2    Levey, A.3    Falkenhain, M.E.4    Klahr, S.5
  • 44
    • 0028351429 scopus 로고
    • Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1
    • Ravine, D. et al. Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1. Lancet 343, 824-827 (1994).
    • (1994) Lancet , vol.343 , pp. 824-827
    • Ravine, D.1
  • 45
    • 0032888686 scopus 로고    scopus 로고
    • Autosomal dominant polycystic kidney disease types 1 and 2: Assessment of US sensitivity for diagnosis
    • Nicolau, C. et al. Autosomal dominant polycystic kidney disease types 1 and 2: assessment of US sensitivity for diagnosis. Radiology 213, 273-276 (1999).
    • (1999) Radiology , vol.213 , pp. 273-276
    • Nicolau, C.1
  • 46
    • 58149504279 scopus 로고    scopus 로고
    • Unified criteria for ultrasonographic diagnosis of ADPKD
    • Pei, Y. et al. Unified criteria for ultrasonographic diagnosis of ADPKD. J. Am. Soc. Nephrol. 20, 205-212 (2009).
    • (2009) J. Am. Soc. Nephrol. , vol.20 , pp. 205-212
    • Pei, Y.1
  • 47
    • 84863732185 scopus 로고    scopus 로고
    • Detected renal cysts are tips of the iceberg in adults with ADPKD
    • Grantham, J. J. et al. Detected renal cysts are tips of the iceberg in adults with ADPKD. Clin. J. Am. Soc. Nephrol. 7, 1087-1093 (2012).
    • (2012) Clin. J. Am. Soc. Nephrol. , vol.7 , pp. 1087-1093
    • Grantham, J.J.1
  • 48
    • 84859318885 scopus 로고    scopus 로고
    • Changes in causes of death and risk of cancer in Danish patients with autosomal dominant polycystic kidney disease and end-stage renal disease
    • Orskov, B., Sørensen, V. R., Feldt-Rasmussen, B. & Strandgaard, S. Changes in causes of death and risk of cancer in Danish patients with autosomal dominant polycystic kidney disease and end-stage renal disease. Nephrol. Dial. Transplant. 27, 1607-1613 (2012).
    • (2012) Nephrol. Dial. Transplant. , vol.27 , pp. 1607-1613
    • Orskov, B.1    Sørensen, V.R.2    Feldt-Rasmussen, B.3    Strandgaard, S.4
  • 49
    • 8144220450 scopus 로고    scopus 로고
    • An epidemiological study of renal pathology in tuberous sclerosis complex
    • O'Callaghan, F. J., Noakes, M. J., Martyn, C. N. & Osborne, J. P. An epidemiological study of renal pathology in tuberous sclerosis complex. BJU Int. 94, 853-857 (2004).
    • (2004) BJU Int. , vol.94 , pp. 853-857
    • O'callaghan, F.J.1    Noakes, M.J.2    Martyn, C.N.3    Osborne, J.P.4
  • 50
    • 0036718539 scopus 로고    scopus 로고
    • Molecular basis of the VHL hereditary cancer syndrome
    • Kaelin, W. G. Molecular basis of the VHL hereditary cancer syndrome. Nat. Rev. Cancer 2, 673-682 (2002).
    • (2002) Nat. Rev. Cancer , vol.2 , pp. 673-682
    • Kaelin, W.G.1
  • 53
    • 0030663536 scopus 로고    scopus 로고
    • Postmenopausal estrogen therapy selectively stimulates hepatic enlargement in women with autosomal dominant polycystic kidney disease
    • Sherstha, R. et al. Postmenopausal estrogen therapy selectively stimulates hepatic enlargement in women with autosomal dominant polycystic kidney disease. Hepatology 26, 1282-1286 (1997).
    • (1997) Hepatology , vol.26 , pp. 1282-1286
    • Sherstha, R.1
  • 54
    • 33745726652 scopus 로고    scopus 로고
    • Estrogens and the pathophysiology of the biliary tree
    • Alvaro, D. et al. Estrogens and the pathophysiology of the biliary tree. World J. Gastroenterol. 12, 3537-3545 (2006).
    • (2006) World J. Gastroenterol. , vol.12 , pp. 3537-3545
    • Alvaro, D.1
  • 55
    • 0032982838 scopus 로고    scopus 로고
    • Frequency of ovarian cysts in patients with autosomal dominant polycystic kidney disease
    • Stamm, E. R. et al. Frequency of ovarian cysts in patients with autosomal dominant polycystic kidney disease. Am. J. Kidney Dis. 34, 120-124 (1999).
    • (1999) Am. J. Kidney Dis. , vol.34 , pp. 120-124
    • Stamm, E.R.1
  • 56
    • 84892683309 scopus 로고    scopus 로고
    • Should patients with autosomal dominant polycystic kidney disease be screened for cerebral aneurysms?
    • Rozenfeld, M. N. et al. Should patients with autosomal dominant polycystic kidney disease be screened for cerebral aneurysms? Am. J. Neuroradiol. 35, 3-9 (2014).
    • (2014) Am. J. Neuroradiol. , vol.35 , pp. 3-9
    • Rozenfeld, M.N.1
  • 57
    • 0036139004 scopus 로고    scopus 로고
    • Management of cerebral aneurysms in autosomal dominant polycystic kidney disease
    • Pirson, Y., Chauveau, D. & Torres, V. Management of cerebral aneurysms in autosomal dominant polycystic kidney disease. J. Am. Soc. Nephrol. 13, 269-276 (2002).
    • (2002) J. Am. Soc. Nephrol. , vol.13 , pp. 269-276
    • Pirson, Y.1    Chauveau, D.2    Torres, V.3
  • 58
    • 79451474135 scopus 로고    scopus 로고
    • Screening for intracranial aneurysm in 355 patients with autosomal-dominant polycystic kidney disease
    • Xu, H. W., Yu, S. Q., Mei, C. L. & Li, M. H. Screening for intracranial aneurysm in 355 patients with autosomal-dominant polycystic kidney disease. Stroke 42, 204-206 (2011).
    • (2011) Stroke , vol.42 , pp. 204-206
    • Xu, H.W.1    Yu, S.Q.2    Mei, C.L.3    Li, M.H.4
  • 59
    • 79958232076 scopus 로고    scopus 로고
    • Extended follow-up of unruptured intracranial aneurysms detected by presymptomatic screening in patients with autosomal dominant polycystic kidney disease
    • Irazabal, M. V. et al. Extended follow-up of unruptured intracranial aneurysms detected by presymptomatic screening in patients with autosomal dominant polycystic kidney disease. Clin. J. Am. Soc. Nephrol. 6, 1274-1285 (2011).
    • (2011) Clin. J. Am. Soc. Nephrol. , vol.6 , pp. 1274-1285
    • Irazabal, M.V.1
  • 60
    • 0023786508 scopus 로고
    • Echocardiographic findings in autosomal dominant polycystic kidney disease
    • Hossack, K. F., Leddy, C. L., Johnson, A. M., Schrier, R. W. & Gabow, P. A. Echocardiographic findings in autosomal dominant polycystic kidney disease. N. Engl. J. Med. 319, 907-912 (1988).
    • (1988) N. Engl. J. Med. , vol.319 , pp. 907-912
    • Hossack, K.F.1    Leddy, C.L.2    Johnson, A.M.3    Schrier, R.W.4    Gabow, P.A.5
  • 61
    • 0029066047 scopus 로고
    • Causes of death in autosomal dominant polycystic kidney disease
    • Fick, G. M., Johnson, A. M., Hammond, W. S. & Gabow, P. A. Causes of death in autosomal dominant polycystic kidney disease. J. Am. Soc. Nephrol. 5, 2048-2056 (1995).
    • (1995) J. Am. Soc. Nephrol. , vol.5 , pp. 2048-2056
    • Fick, G.M.1    Johnson, A.M.2    Hammond, W.S.3    Gabow, P.A.4
  • 62
    • 0014519761 scopus 로고
    • Postmortem survey of diverticular disease of the colon I. Diverticulosis and diverticulitis
    • Hughes, L. E. Postmortem survey of diverticular disease of the colon. I. Diverticulosis and diverticulitis. Gut 10, 336-344 (1969).
    • (1969) Gut , vol.10 , pp. 336-344
    • Hughes, L.E.1
  • 63
    • 0038304401 scopus 로고    scopus 로고
    • Autosomal recessive polycystic kidney disease: The clinical experience in North America
    • Guay-Woodford, L. M. & Desmond, R. A. Autosomal recessive polycystic kidney disease: the clinical experience in North America. Pediatrics 111, 1072-1080 (2003).
    • (2003) Pediatrics , vol.111 , pp. 1072-1080
    • Guay-Woodford, L.M.1    Desmond, R.A.2
  • 64
    • 2342588823 scopus 로고    scopus 로고
    • PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)
    • Bergmann, C. et al. PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD). Hum. Mutat. 23, 453-463 (2004).
    • (2004) Hum. Mutat. , vol.23 , pp. 453-463
    • Bergmann, C.1
  • 66
    • 33644957836 scopus 로고    scopus 로고
    • Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD)
    • Adeva, M. et al. Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). Medicine (Baltimore) 85, 1-21 (2006).
    • (2006) Medicine (Baltimore) , vol.85 , pp. 1-21
    • Adeva, M.1
  • 67
    • 79954429542 scopus 로고    scopus 로고
    • Diagnosis and management of childhood polycystic kidney disease
    • Sweeney, W. E., Jr & Avner, E. D. Diagnosis and management of childhood polycystic kidney disease. Pediatr. Nephrol. 26, 675-692 (2011).
    • (2011) Pediatr. Nephrol. , vol.26 , pp. 675-692
    • Sweeney, W.E.1    Avner, E.D.2
  • 68
    • 0036556216 scopus 로고    scopus 로고
    • Morbidity from congenital hepatic fibrosis after renal transplantation for autosomal recessive polycystic kidney disease
    • Khan, K., Schwarzenberg, S. J., Sharp, H. L., Matas, A. J. & Chavers, B. M. Morbidity from congenital hepatic fibrosis after renal transplantation for autosomal recessive polycystic kidney disease. Am. J. Transplant. 2, 360-365 (2002).
    • (2002) Am. J. Transplant. , vol.2 , pp. 360-365
    • Khan, K.1    Schwarzenberg, S.J.2    Sharp, H.L.3    Matas, A.J.4    Chavers, B.M.5
  • 69
    • 0033190819 scopus 로고    scopus 로고
    • Rare MR urography- A new diagnostic method in autosomal recessive polycystic kidney disease
    • Kern, S., Zimmerhackl, L. B., Hildebrandt, F. & Uhl, M. Rare MR urography- A new diagnostic method in autosomal recessive polycystic kidney disease. Acta Radiol. 40, 543-544 (1999).
    • (1999) Acta Radiol. , vol.40 , pp. 543-544
    • Kern, S.1    Zimmerhackl, L.B.2    Hildebrandt, F.3    Uhl, M.4
  • 70
    • 0001652622 scopus 로고    scopus 로고
    • Autosomal recessive polycystic kidney disease in 115 children: Clinical presentation, course and influence of gender Arbeitsgemeinschaft für Pädiatrische, Nephrologie
    • Zerres, K. et al. Autosomal recessive polycystic kidney disease in 115 children: clinical presentation, course and influence of gender. Arbeitsgemeinschaft für Pädiatrische, Nephrologie. Acta Paediatr. 85, 437-445 (1996).
    • (1996) Acta Paediatr. , vol.85 , pp. 437-445
    • Zerres, K.1
  • 71
    • 84903570761 scopus 로고    scopus 로고
    • Clinical manifestations of autosomal recessive polycystic kidney disease (ARPKD): Kidney-related and non kidney related phenotypes
    • Büscher, R. et al. Clinical manifestations of autosomal recessive polycystic kidney disease (ARPKD): kidney-related and non kidney related phenotypes. Pediatr. Nephrol. (2013). http://dx.doi.org/10.1007/s00467 013 2634-1.
    • (2013) Pediatr. Nephrol.
    • Büscher, R.1
  • 72
    • 58149504281 scopus 로고    scopus 로고
    • Nephronophthisis: Disease mechanisms of a ciliopathy
    • Hildebrandt, F., Attanasio, M. & Otto, E. Nephronophthisis: Disease Mechanisms of a Ciliopathy. J. Am. Soc. Nephrol. 20, 23-35 (2009).
    • (2009) J. Am. Soc. Nephrol. , vol.20 , pp. 23-35
    • Hildebrandt, F.1    Attanasio, M.2    Otto, E.3
  • 73
    • 34249871086 scopus 로고    scopus 로고
    • Nephronophthisis-associated ciliopathies
    • Hildebrandt, F. & Zhou, W. Nephronophthisis-Associated Ciliopathies. J. Am. Soc. Nephrol. 18, 1855-1871 (2007).
    • (2007) J. Am. Soc. Nephrol. , vol.18 , pp. 1855-1871
    • Hildebrandt, F.1    Zhou, W.2
  • 75
    • 28844460656 scopus 로고    scopus 로고
    • Cilia and centrosomes: A unifying pathogenic concept for cystic kidney disease?
    • Hildebrandt, F. & Otto, E. Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease? Nat. Rev. Genet. 6, 928-940 (2005).
    • (2005) Nat. Rev. Genet. , vol.6 , pp. 928-940
    • Hildebrandt, F.1    Otto, E.2
  • 77
    • 84880916379 scopus 로고    scopus 로고
    • Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy
    • Halbritter, J. et al. Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. Hum. Genet. 132, 865-884 (2013).
    • (2013) Hum. Genet. , vol.132 , pp. 865-884
    • Halbritter, J.1
  • 78
    • 0032428685 scopus 로고    scopus 로고
    • Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein
    • Nonaka, S. et al. Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein. Cell 95, 829-837 (1998).
    • (1998) Cell , vol.95 , pp. 829-837
    • Nonaka, S.1
  • 79
    • 0032530312 scopus 로고    scopus 로고
    • Mutation of the mouse hepatocyte nuclear factor/forkhead homologue 4 gene results in an absence of cilia and random left-right asymmetry
    • Chen, J., Knowles, H. J., Hebert, J. L. & Hackett, B. P. Mutation of the mouse hepatocyte nuclear factor/forkhead homologue 4 gene results in an absence of cilia and random left-right asymmetry. J. Clin. Invest. 102, 1077-1082 (1998).
    • (1998) J. Clin. Invest. , vol.102 , pp. 1077-1082
    • Chen, J.1    Knowles, H.J.2    Hebert, J.L.3    Hackett, B.P.4
  • 80
    • 0034443891 scopus 로고    scopus 로고
    • Of mice and men: Dissecting the genetic pathway that controls left-right asymmetry in mice and humans
    • Schneider, H. & Brueckner, M. Of mice and men: dissecting the genetic pathway that controls left-right asymmetry in mice and humans. Am. J. Med. Genet. 97, 258-270 (2000).
    • (2000) Am. J. Med. Genet. , vol.97 , pp. 258-270
    • Schneider, H.1    Brueckner, M.2
  • 81
    • 0034089698 scopus 로고    scopus 로고
    • Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis
    • Betz, R. et al. Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. J. Pediatr. 136, 828-831 (2000).
    • (2000) J. Pediatr. , vol.136 , pp. 828-831
    • Betz, R.1
  • 82
    • 0037900924 scopus 로고    scopus 로고
    • Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes
    • Johnson, C. A. Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes. J. Med. Genet. 40, 311-319 (2003).
    • (2003) J. Med. Genet. , vol.40 , pp. 311-319
    • Johnson, C.A.1
  • 83
    • 0014865926 scopus 로고
    • Familial nephropathy associated with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities
    • Mainzer, F., Saldino, R. M., Ozonoff, M. B. & Minagi, H. Familial nephropathy associated with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities. Am. J. Med. 49, 556-562 (1970).
    • (1970) Am. J. Med. , vol.49 , pp. 556-562
    • Mainzer, F.1    Saldino, R.M.2    Ozonoff, M.B.3    Minagi, H.4
  • 84
    • 84890219086 scopus 로고    scopus 로고
    • Defects in the IFT B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans
    • Halbritter, J. et al. Defects in the IFT B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. Am. J. Hum. Genet. 93, 915-925 (2013).
    • (2013) Am. J. Hum. Genet. , vol.93 , pp. 915-925
    • Halbritter, J.1
  • 85
    • 84883766759 scopus 로고    scopus 로고
    • Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60
    • McInerney-Leo, A. M. et al. Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. Am. J. Hum. Genet. 93, 515-523 (2013).
    • (2013) Am. J. Hum. Genet. , vol.93 , pp. 515-523
    • McInerney-Leo, A.M.1
  • 86
    • 84890206285 scopus 로고    scopus 로고
    • WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-B pathway in cilia
    • Huber, C. et al. WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-B pathway in cilia. Am. J. Hum. Genet. 93, 926-931 (2013).
    • (2013) Am. J. Hum. Genet. , vol.93 , pp. 926-931
    • Huber, C.1
  • 87
    • 84886236293 scopus 로고    scopus 로고
    • Sensenbrenner syndrome (Cranioectodermal dysplasia): Clinical and molecular analyses of 39 patients including two new patients
    • Lin, A. E. et al. Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients. Am. J. Med. Genet. A 161, 2762-2776 (2013).
    • (2013) Am. J. Med. Genet. A , vol.161 , pp. 2762-2776
    • Lin, A.E.1
  • 88
    • 70449711340 scopus 로고    scopus 로고
    • Clinical and molecular features of Joubert syndrome and related disorders
    • Parisi, M. A. Clinical and molecular features of Joubert syndrome and related disorders. Am. J. Med. Genet. C Semin. Med. Genet. 151, 326-340 (2009).
    • (2009) Am. J. Med. Genet. C Semin. Med. Genet. , vol.151 , pp. 326-340
    • Parisi, M.A.1
  • 90
    • 79960019930 scopus 로고    scopus 로고
    • Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics
    • Dafinger, C. et al. Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. J. Clin. Invest. 121, 2662-2667 (2011).
    • (2011) J. Clin. Invest. , vol.121 , pp. 2662-2667
    • Dafinger, C.1
  • 91
    • 0029936390 scopus 로고    scopus 로고
    • The importance of renal impairment in the natural history of Bardet-Biedl syndrome
    • O'Dea, D. et al. The importance of renal impairment in the natural history of Bardet-Biedl syndrome. Am. J. Kidney Dis. 27, 776-783 (1996).
    • (1996) Am. J. Kidney Dis. , vol.27 , pp. 776-783
    • O'dea, D.1
  • 92
    • 79251489499 scopus 로고    scopus 로고
    • Bardet-Biedl syndrome: A study of the renal and cardiovascular phenotypes in a French cohort
    • Imhoff, O. et al. Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort. Clin. J. Am. Soc. Nephrol. 6, 22-29 (2011).
    • (2011) Clin. J. Am. Soc. Nephrol. , vol.6 , pp. 22-29
    • Imhoff, O.1
  • 93
    • 83655180783 scopus 로고    scopus 로고
    • Phenotypic variability of Bardet-Biedl syndrome: Focusing on the kidney
    • Putoux, A., Attie-Bitach, T., Martinovic, J. & Gubler, M. C. Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney. Pediatr. Nephrol. 27, 7-15 (2012).
    • (2012) Pediatr. Nephrol. , vol.27 , pp. 7-15
    • Putoux, A.1    Attie-Bitach, T.2    Martinovic, J.3    Gubler, M.C.4
  • 94
    • 84865957680 scopus 로고    scopus 로고
    • Educational paper: Ciliopathies
    • Bergmann, C. Educational paper: ciliopathies. Eur. J. Pediatr. 171, 1285-1300 (2012).
    • (2012) Eur. J. Pediatr. , vol.171 , pp. 1285-1300
    • Bergmann, C.1
  • 95
    • 65649147891 scopus 로고    scopus 로고
    • Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy
    • Zaghloul, N. A. & Katsanis, N. Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. J. Clin. Invest. 119, 428-437 (2009).
    • (2009) J. Clin. Invest. , vol.119 , pp. 428-437
    • Zaghloul, N.A.1    Katsanis, N.2
  • 96
    • 80054004978 scopus 로고    scopus 로고
    • Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations
    • Bollée, G. et al. Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations. Clin. J. Am. Soc. Nephrol. 6, 2429-2438 (2011).
    • (2011) Clin. J. Am. Soc. Nephrol. , vol.6 , pp. 2429-2438
    • Bollée, G.1
  • 97
    • 10744224657 scopus 로고    scopus 로고
    • Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains
    • Wolf, M. T. F. et al. Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains. Kidney Int. 64, 1580-1587 (2003).
    • (2003) Kidney Int. , vol.64 , pp. 1580-1587
    • Wolf, M.T.F.1
  • 98
    • 0033358592 scopus 로고    scopus 로고
    • Identification of a new locus for medullary cystic disease, on chromosome 16p12
    • Scolari, F. et al. Identification of a new locus for medullary cystic disease, on chromosome 16p12. Am. J. Hum. Genet. 64, 1655-1660 (1999).
    • (1999) Am. J. Hum. Genet. , vol.64 , pp. 1655-1660
    • Scolari, F.1
  • 99
    • 10744226387 scopus 로고    scopus 로고
    • A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin
    • Dahan, K. et al. A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. J. Am. Soc. Nephrol. 14, 2883-2893 (2003).
    • (2003) J. Am. Soc. Nephrol. , vol.14 , pp. 2883-2893
    • Dahan, K.1
  • 100
    • 0031953640 scopus 로고    scopus 로고
    • Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease
    • Christodoulou, K. et al. Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease. Hum. Mol. Genet. 7, 905-911 (1998).
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 905-911
    • Christodoulou, K.1
  • 101
    • 0036914069 scopus 로고    scopus 로고
    • Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy
    • Hart, T. C. et al. Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J. Med. Genet. 39, 882-892 (2002).
    • (2002) J. Med. Genet. , vol.39 , pp. 882-892
    • Hart, T.C.1
  • 102
    • 84874662323 scopus 로고    scopus 로고
    • Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing
    • Kirby, A. et al. Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. Nat. Genet. 45, 299-303 (2013).
    • (2013) Nat. Genet. , vol.45 , pp. 299-303
    • Kirby, A.1
  • 103
    • 68249127890 scopus 로고    scopus 로고
    • Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure
    • Zivná, M. et al. Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure. Am. J. Hum. Genet. 85, 204-213 (2009).
    • (2009) Am. J. Hum. Genet. , vol.85 , pp. 204-213
    • Zivná, M.1
  • 106
    • 0029903275 scopus 로고    scopus 로고
    • A cross sectional study of renal involvement in tuberous sclerosis
    • Cook, J. A., Oliver, K., Mueller, R. F. & Sampson, J. A cross sectional study of renal involvement in tuberous sclerosis. J. Med. Genet. 33, 480-484 (1996).
    • (1996) J. Med. Genet. , vol.33 , pp. 480-484
    • Cook, J.A.1    Oliver, K.2    Mueller, R.F.3    Sampson, J.4
  • 107
    • 33750593151 scopus 로고    scopus 로고
    • Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors
    • Rakowski, S. K. et al. Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors. Kidney Int. 70, 1777-1782 (2006).
    • (2006) Kidney Int. , vol.70 , pp. 1777-1782
    • Rakowski, S.K.1
  • 109
    • 0025865333 scopus 로고
    • Malignant renal tumors in tuberous sclerosis
    • Washecka, R. & Hanna, M. Malignant renal tumors in tuberous sclerosis. Urology 37, 340-343 (1991).
    • (1991) Urology , vol.37 , pp. 340-343
    • Washecka, R.1    Hanna, M.2
  • 110
    • 84875804295 scopus 로고    scopus 로고
    • Cancer incidence and mortality patterns in Europe: Estimates for 40 countries in 2012
    • Ferlay, J. et al. Cancer incidence and mortality patterns in Europe: estimates for 40 countries in 2012. Eur. J. Cancer 49, 1374-1403 (2013).
    • (2013) Eur. J. Cancer , vol.49 , pp. 1374-1403
    • Ferlay, J.1
  • 111
    • 50849087685 scopus 로고    scopus 로고
    • Behavior problems in children with tuberous sclerosis complex and parental stress
    • Kopp, C. M. C., Muzykewicz, D. A., Staley, B. A., Thiele, E. A. & Pulsifer, M. B. Behavior problems in children with tuberous sclerosis complex and parental stress. Epilepsy Behav. 13, 505-510 (2008).
    • (2008) Epilepsy Behav. , vol.13 , pp. 505-510
    • Kopp, C.M.C.1    Muzykewicz, D.A.2    Staley, B.A.3    Thiele, E.A.4    Pulsifer, M.B.5
  • 112
    • 12244298162 scopus 로고    scopus 로고
    • Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex
    • Joinson, C. et al. Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex. Psychol. Med. 33, 335-344 (2003).
    • (2003) Psychol. Med. , vol.33 , pp. 335-344
    • Joinson, C.1
  • 113
    • 0034778130 scopus 로고    scopus 로고
    • Neuropathology of tuberous sclerosis
    • Mizuguchi, M. & Takashima, S. Neuropathology of tuberous sclerosis. Brain Dev. 23, 508-515 (2001).
    • (2001) Brain Dev. , vol.23 , pp. 508-515
    • Mizuguchi, M.1    Takashima, S.2
  • 114
    • 80054773182 scopus 로고    scopus 로고
    • The Tuberous Sclerosis 2000 Study: Presentation, initial assessments and implications for diagnosis and management
    • Yates, J. R. W. et al. The Tuberous Sclerosis 2000 Study: presentation, initial assessments and implications for diagnosis and management. Arch. Dis. Child. 96, 1020-1025 (2011).
    • (2011) Arch. Dis. Child. , vol.96 , pp. 1020-1025
    • Yates, J.R.W.1
  • 115
    • 30344457333 scopus 로고    scopus 로고
    • The NHLBI lymphangioleiomyomatosis registry: Characteristics of 230 patients at enrollment
    • Ryu, J. H. et al. The NHLBI lymphangioleiomyomatosis registry: characteristics of 230 patients at enrollment. Am. J. Respir. Crit. Care Med. 173, 105-111 (2006).
    • (2006) Am. J. Respir. Crit. Care Med. , vol.173 , pp. 105-111
    • Ryu, J.H.1
  • 116
    • 0029900158 scopus 로고    scopus 로고
    • The cutaneous features of tuberous sclerosis: A population study
    • Webb, D. W., Clarke, A., Fryer, A. & Osborne, J. P. The cutaneous features of tuberous sclerosis: a population study. Br. J. Dermatol. 135, 1-5 (1996).
    • (1996) Br. J. Dermatol. , vol.135 , pp. 1-5
    • Webb, D.W.1    Clarke, A.2    Fryer, A.3    Osborne, J.P.4
  • 117
    • 0030879277 scopus 로고    scopus 로고
    • Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
    • Van Slegtenhorst, M. et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 277, 805-808 (1997).
    • (1997) Science , vol.277 , pp. 805-808
    • Van Slegtenhorst, M.1
  • 118
    • 0027770784 scopus 로고
    • Identification and characterization of the tuberous sclerosis gene on chromosome 16
    • European Chromosome 16 Tuberous Sclerosis Consortium. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 75, 1305-1315 (1993).
    • (1993) Cell , vol.75 , pp. 1305-1315
    • European Chromosome 16 Tuberous Sclerosis Consortium1
  • 119
    • 43149101490 scopus 로고    scopus 로고
    • The tuberous sclerosis gene products hamartin and tuberin are multifunctional proteins with a wide spectrum of interacting partners
    • Rosner, M., Hanneder, M., Siegel, N., Valli, A. & Hengstschläger, M. The tuberous sclerosis gene products hamartin and tuberin are multifunctional proteins with a wide spectrum of interacting partners. Mutat. Res. 658, 234-246 (2008).
    • (2008) Mutat. Res. , vol.658 , pp. 234-246
    • Rosner, M.1    Hanneder, M.2    Siegel, N.3    Valli, A.4    Hengstschläger, M.5
  • 120
    • 79959994425 scopus 로고    scopus 로고
    • Clinical and molecular insights into tuberous sclerosis complex renal disease
    • Siroky, B. J., Yin, H. & Bissler, J. J. Clinical and Molecular Insights into Tuberous Sclerosis Complex Renal Disease. Pediatr. Nephrol. 26, 839-852 (2010).
    • (2010) Pediatr. Nephrol. , vol.26 , pp. 839-852
    • Siroky, B.J.1    Yin, H.2    Bissler, J.J.3
  • 121
    • 34547605613 scopus 로고    scopus 로고
    • IKK beta suppression of TSC1 links inflammation and tumor angiogenesis via the mTOR pathway
    • Lee, D. F. et al. IKK beta suppression of TSC1 links inflammation and tumor angiogenesis via the mTOR pathway. Cell 130, 440-455 (2007).
    • (2007) Cell , vol.130 , pp. 440-455
    • Lee, D.F.1
  • 122
    • 38049169559 scopus 로고    scopus 로고
    • Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis
    • Bissler, J. J. et al. Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis. N. Engl. J. Med. 358, 140-151 (2008).
    • (2008) N. Engl. J. Med. , vol.358 , pp. 140-151
    • Bissler, J.J.1
  • 124
    • 84861229141 scopus 로고    scopus 로고
    • Molecular therapies for tuberous sclerosis and neurofibromatosis
    • Franz, D. N. & Weiss, B. D. Molecular therapies for tuberous sclerosis and neurofibromatosis. Curr. Neurol. Neurosci. Rep. 12, 294-301 (2012).
    • (2012) Curr. Neurol. Neurosci. Rep. , vol.12 , pp. 294-301
    • Franz, D.N.1    Weiss, B.D.2
  • 125
    • 0030696314 scopus 로고    scopus 로고
    • Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis
    • Jones, A. C. et al. Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. Hum. Mol. Genet. 6, 2155-2161 (1997).
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 2155-2161
    • Jones, A.C.1
  • 126
    • 0028051871 scopus 로고
    • Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease- A contiguous gene syndrome
    • Brook-Carter, P. T. et al. Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease- A contiguous gene syndrome. Nat. Genet. 8, 328-332 (1994).
    • (1994) Nat. Genet. , vol.8 , pp. 328-332
    • Brook-Carter, P.T.1
  • 127
    • 84883183489 scopus 로고    scopus 로고
    • Renal cancer in von Hippel-Lindau disease and related syndromes
    • Bausch, B. et al. Renal cancer in von Hippel-Lindau disease and related syndromes. Nat. Rev. Nephrol. 9, 529-538 (2013).
    • (2013) Nat. Rev. Nephrol. , vol.9 , pp. 529-538
    • Bausch, B.1
  • 128
    • 0025863170 scopus 로고
    • Clustering of features of von Hippel-Lindau syndrome: Evidence for a complex genetic locus
    • Neumann, H. P. & Wiestler, O. D. Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus. Lancet 337, 1052-1054 (1991).
    • (1991) Lancet , vol.337 , pp. 1052-1054
    • Neumann, H.P.1    Wiestler, O.D.2
  • 130
    • 0029920054 scopus 로고    scopus 로고
    • Reversion of deregulated expression of vascular endothelial growth factor in human renal carcinoma cells by von Hippel-Lindau tumor suppressor protein
    • Siemeister, G. et al. Reversion of deregulated expression of vascular endothelial growth factor in human renal carcinoma cells by von Hippel-Lindau tumor suppressor protein. Cancer Res. 56, 2299-2301 (1996).
    • (1996) Cancer Res. , vol.56 , pp. 2299-2301
    • Siemeister, G.1
  • 131
    • 79956317112 scopus 로고    scopus 로고
    • Von Hippel-Lindau disease: A clinical and scientific review
    • Maher, E. R., Neumann, H. P. & Richard, S. von Hippel-Lindau disease: a clinical and scientific review. Eur. J. Hum. Genet. 19, 617-623 (2011).
    • (2011) Eur. J. Hum. Genet. , vol.19 , pp. 617-623
    • Maher, E.R.1    Neumann, H.P.2    Richard, S.3
  • 132
    • 0025000210 scopus 로고
    • Clinical features and natural history of von Hippel-Lindau disease
    • Maher, E. R. et al. Clinical features and natural history of von Hippel-Lindau disease. Q. J. Med. 77, 1151-1163 (1990).
    • (1990) Q. J. Med. , vol.77 , pp. 1151-1163
    • Maher, E.R.1
  • 133
  • 134
    • 0037709883 scopus 로고    scopus 로고
    • Von Hippel-Lindau disease
    • Lonser, R. R. et al. von Hippel-Lindau disease. Lancet 361, 2059-2067 (2003).
    • (2003) Lancet , vol.361 , pp. 2059-2067
    • Lonser, R.R.1
  • 135
    • 19144371868 scopus 로고    scopus 로고
    • A genetic register for von Hippel-Lindau disease
    • Maddock, I. R. et al. A genetic register for von Hippel-Lindau disease. J. Med. Genet. 33, 120-127 (1996).
    • (1996) J. Med. Genet. , vol.33 , pp. 120-127
    • Maddock, I.R.1
  • 136
    • 84930211909 scopus 로고    scopus 로고
    • ARPKD and early manifestations of ADPKD: The original polycystic kidney disease and phenocopies
    • Bergmann, C. ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies. Pediatr. Nephrol. (2014). http://dx.doi.org/10.1007/s00467 013 2706-2.
    • (2014) Pediatr. Nephrol
    • Bergmann, C.1
  • 137
    • 77950295966 scopus 로고    scopus 로고
    • Molecular diagnostics for autosomal dominant polycystic kidney disease
    • Harris, P. C. & Rossetti, S. Molecular diagnostics for autosomal dominant polycystic kidney disease. Nat. Rev. Nephrol. 6, 197-206 (2010).
    • (2010) Nat. Rev. Nephrol. , vol.6 , pp. 197-206
    • Harris, P.C.1    Rossetti, S.2
  • 138
    • 84894477905 scopus 로고    scopus 로고
    • Genome-wide methylation profiling of ADPKD identified epigenetically regulated genes associated with renal cyst development
    • Woo, Y. M. et al. Genome-wide methylation profiling of ADPKD identified epigenetically regulated genes associated with renal cyst development. Hum. Genet. 133, 281-297 (2014).
    • (2014) Hum. Genet. , vol.133 , pp. 281-297
    • Woo, Y.M.1
  • 139
    • 0028932219 scopus 로고
    • Evidence for a third genetic locus for autosomal dominant polycystic kidney disease
    • Daoust, M. C., Reynolds, D. M., Bichet, D. G. & Somlo, S. Evidence for a third genetic locus for autosomal dominant polycystic kidney disease. Genomics 25, 733-736 (1995).
    • (1995) Genomics , vol.25 , pp. 733-736
    • Daoust, M.C.1    Reynolds, D.M.2    Bichet, D.G.3    Somlo, S.4
  • 140
    • 0029042394 scopus 로고
    • Autosomal dominant polycystic kidney disease: Evidence for the existence of a third locus in a Portuguese family
    • De Almeida, S. et al. Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family. Hum. Genet. 96, 83-88 (1995).
    • (1995) Hum. Genet. , vol.96 , pp. 83-88
    • De Almeida, S.1
  • 141
    • 30744476739 scopus 로고    scopus 로고
    • Mutations in hepatocyte nuclear factor-1beta and their related phenotypes
    • Edghill, E. L., Bingham, C., Ellard, S. & Hattersley, A. T. Mutations in hepatocyte nuclear factor-1beta and their related phenotypes. J. Med. Genet. 43, 84-90 (2006).
    • (2006) J. Med. Genet. , vol.43 , pp. 84-90
    • Edghill, E.L.1    Bingham, C.2    Ellard, S.3    Hattersley, A.T.4
  • 142
    • 36248971130 scopus 로고    scopus 로고
    • Massively enlarged polycystic kidneys in monozygotic twins with TCF2/HNF-1beta (hepatocyte nuclear factor-1beta) heterozygous whole-gene deletion
    • Faguer, S. et al. Massively enlarged polycystic kidneys in monozygotic twins with TCF2/HNF-1beta (hepatocyte nuclear factor-1beta) heterozygous whole-gene deletion. Am. J. Kidney Dis. 50, 1023-1027 (2007).
    • (2007) Am. J. Kidney Dis. , vol.50 , pp. 1023-1027
    • Faguer, S.1
  • 143
    • 1842427829 scopus 로고    scopus 로고
    • Abnormal hepatocystin caused by truncating PRKCSH mutations leads to autosomal dominant polycystic liver disease
    • Drenth, J. P. H. et al. Abnormal hepatocystin caused by truncating PRKCSH mutations leads to autosomal dominant polycystic liver disease. Hepatology 39, 924-931 (2004).
    • (2004) Hepatology , vol.39 , pp. 924-931
    • Drenth, J.P.H.1
  • 144
    • 2642528473 scopus 로고    scopus 로고
    • Mutations in SEC63 cause autosomal dominant polycystic liver disease
    • Davila, S. et al. Mutations in SEC63 cause autosomal dominant polycystic liver disease. Nat. Genet. 36, 575-577 (2004).
    • (2004) Nat. Genet. , vol.36 , pp. 575-577
    • Davila, S.1
  • 145
    • 18344366124 scopus 로고    scopus 로고
    • 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
    • Onuchic, L. F. 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. 70, 1305-1317 (2002).
    • (2002) Am. J. Hum. Genet. , vol.70 , pp. 1305-1317
    • Onuchic, L.F.1
  • 146
    • 0036509712 scopus 로고    scopus 로고
    • The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein
    • Ward, C. J. et al. The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat. Genet. 30, 259-269 (2002).
    • (2002) Nat. Genet. , vol.30 , pp. 259-269
    • Ward, C.J.1
  • 147
    • 75749103271 scopus 로고    scopus 로고
    • Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease
    • Denamur, E. et al. Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease. Kidney Int. 77, 350-358 (2010).
    • (2010) Kidney Int. , vol.77 , pp. 350-358
    • Denamur, E.1
  • 148
    • 34248180073 scopus 로고    scopus 로고
    • Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease
    • Rossetti, S. & Harris, P. C. Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease. J. Am. Soc. Nephrol. 18, 1374-1380 (2007).
    • (2007) J. Am. Soc. Nephrol. , vol.18 , pp. 1374-1380
    • Rossetti, S.1    Harris, P.C.2
  • 149
    • 0042844709 scopus 로고    scopus 로고
    • Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations
    • Furu, L. et al. Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations. J. Am. Soc. Nephrol. 14, 2004-2014 (2003).
    • (2003) J. Am. Soc. Nephrol. , vol.14 , pp. 2004-2014
    • Furu, L.1
  • 150
    • 12244300887 scopus 로고    scopus 로고
    • Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)
    • Bergmann, C. et al. Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). J. Am. Soc. Nephrol. 14, 76-89 (2003).
    • (2003) J. Am. Soc. Nephrol. , vol.14 , pp. 76-89
    • Bergmann, C.1
  • 151
    • 10744226026 scopus 로고    scopus 로고
    • A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees
    • Rossetti, S. et al. A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees. Kidney Int. 64, 391-403 (2003).
    • (2003) Kidney Int. , vol.64 , pp. 391-403
    • Rossetti, S.1
  • 152
    • 0346040225 scopus 로고    scopus 로고
    • Molecular genetics of autosomal recessive polycystic kidney disease
    • Harris, P. C. & Rossetti, S. Molecular genetics of autosomal recessive polycystic kidney disease. Mol. Genet. Metab. 81, 75-85 (2004).
    • (2004) Mol. Genet. Metab. , vol.81 , pp. 75-85
    • Harris, P.C.1    Rossetti, S.2
  • 153
    • 84881544806 scopus 로고    scopus 로고
    • Joubert syndrome: Congenital cerebellar ataxia with the molar tooth
    • Romani, M., Micalizzi, A. & Valente, E. M. Joubert syndrome: congenital cerebellar ataxia with the molar tooth. Lancet Neurol. 12, 894-905 (2013).
    • (2013) Lancet Neurol. , vol.12 , pp. 894-905
    • Romani, M.1    Micalizzi, A.2    Valente, E.M.3
  • 154
    • 84901455140 scopus 로고    scopus 로고
    • Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development
    • Barker, A. R., Thomas, R. & Dawe, H. R. Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development. Organogenesis 10, 96-107 (2014).
    • (2014) Organogenesis , vol.10 , pp. 96-107
    • Barker, A.R.1    Thomas, R.2    Dawe, H.R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.