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Volumn 40, Issue 5, 2003, Pages 311-319

Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL RECESSIVE DISORDER; BARDET BIEDL SYNDROME; BONE MALFORMATION; CELL PROLIFERATION; CENTRAL NERVOUS SYSTEM MALFORMATION; CLINICAL FEATURE; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; DYSTROPHY; ELLIS VAN CREVELD SYNDROME; EPITHELIUM; EXTRACELLULAR MATRIX; HEPATORENAL FIBROCYSTIC SYNDROME; HEPATORENAL SYNDROME; HUMAN; KIDNEY DEVELOPMENT; KIDNEY POLYCYSTIC DISEASE; LIVER DEVELOPMENT; MECKEL SYNDROME; NEPHRONOPHTHISIS; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PRIORITY JOURNAL; REVIEW;

EID: 0037900924     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.40.5.311     Document Type: Review
Times cited : (83)

References (78)
  • 2
    • 0025215775 scopus 로고
    • Ellis-van Creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: Separate entities or disease spectrum?
    • Brueton LA, Dillon MJ, Winter RM. Ellis-van Creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum? J Med Genet 1990;27:252-5.
    • (1990) J Med Genet , vol.27 , pp. 252-255
    • Brueton, L.A.1    Dillon, M.J.2    Winter, R.M.3
  • 4
    • 0033791668 scopus 로고    scopus 로고
    • Study of the malformation of ductal plate of the liver in Meckel syndrome and review of other syndromes presenting with this anomaly
    • Sergi C, Adam S, Kahl P, Otto HF. Study of the malformation of ductal plate of the liver in Meckel syndrome and review of other syndromes presenting with this anomaly. Pediatr Dev Pathol 2000;3:568-83.
    • (2000) Pediatr Dev Pathol , vol.3 , pp. 568-583
    • Sergi, C.1    Adam, S.2    Kahl, P.3    Otto, H.F.4
  • 6
    • 0026737604 scopus 로고
    • Congenital diseases of intrahepatic bile ducts: Variations on the theme "ductal plate malformation"
    • Desmet VJ. Congenital diseases of intrahepatic bile ducts: variations on the theme "ductal plate malformation". Hepatology 1992;16:1069-83.
    • (1992) Hepatology , vol.16 , pp. 1069-1083
    • Desmet, V.J.1
  • 7
    • 0000004952 scopus 로고    scopus 로고
    • Cysts and congenital biliary abnormalities
    • Oxford: Blackwell Scientific Publications
    • Sherlock S, Dooley J. Cysts and congenital biliary abnormalities. In: Diseases of the Liver and Biliary System. 10th ed. Oxford: Blackwell Scientific Publications, 1997:579-91.
    • (1997) Diseases of the Liver and Biliary System. 10th Ed. , pp. 579-591
    • Sherlock, S.1    Dooley, J.2
  • 8
    • 0033885497 scopus 로고    scopus 로고
    • The remodeling of the primitive human biliary system
    • Sergi C, Adam S, Kahl P, Otto HF. The remodeling of the primitive human biliary system. Early Hum Dev 2000;58:167-78.
    • (2000) Early Hum Dev , vol.58 , pp. 167-178
    • Sergi, C.1    Adam, S.2    Kahl, P.3    Otto, H.F.4
  • 10
    • 33746521801 scopus 로고
    • The cellular basis af hepatic fibrosis. Mechanisms and treatment strategies
    • Friedman SL. The cellular basis af hepatic fibrosis. Mechanisms and treatment strategies. N Engl J Med 1993;328:1828-35.
    • (1993) N Engl J Med , vol.328 , pp. 1828-1835
    • Friedman, S.L.1
  • 11
    • 0016906098 scopus 로고
    • A classification of renal cysts
    • Gardner KD, ed. New York: Wiley
    • Bernstein J. A classification of renal cysts. In: Gardner KD, ed. Cystic disease of the kidney. New York: Wiley, 1976:7-30.
    • (1976) Cystic Disease of the Kidney , pp. 7-30
    • Bernstein, J.1
  • 12
    • 0028063609 scopus 로고
    • Hereditary and acquired cystic disease of the kidney
    • Fick GM, Gabow PA. Hereditary and acquired cystic disease of the kidney. Kidney Int 1994;46:951-64.
    • (1994) Kidney Int , vol.46 , pp. 951-964
    • Fick, G.M.1    Gabow, P.A.2
  • 14
    • 0001394794 scopus 로고    scopus 로고
    • Pathogenesis of polycystic kidney disease: Altered cellular function
    • Watson ML, Torres VE, eds. Oxford: Oxford Medical Publications
    • Wilson PD. Pathogenesis of polycystic kidney disease: altered cellular function. In: Watson ML, Torres VE, eds. Polycystic kidney disease. Oxford: Oxford Medical Publications, 1996:125-63.
    • (1996) Polycystic Kidney Disease , pp. 125-163
    • Wilson, P.D.1
  • 15
    • 0027620359 scopus 로고
    • Fluid secretion, cellular proliferation, and the pathogenesis of renal epithelial cysts
    • Grantham JJ. Fluid secretion, cellular proliferation, and the pathogenesis of renal epithelial cysts. J Am Soc Nephrol 1993;3:1841-57.
    • (1993) J Am Soc Nephrol , vol.3 , pp. 1841-1857
    • Grantham, J.J.1
  • 16
    • 0028211725 scopus 로고
    • Pathogenesis of renal cyst expansion: Opportunities for therapy
    • Grantham JJ. Pathogenesis of renal cyst expansion: opportunities for therapy. Am J Kidney Dis 1994;2:210-18.
    • (1994) Am J Kidney Dis , vol.2 , pp. 210-218
    • Grantham, J.J.1
  • 17
    • 0001386151 scopus 로고
    • Cystic disease of the liver associated with similar disease of the kidneys
    • Bristowe F. Cystic disease of the liver associated with similar disease of the kidneys. Trans Pathol Soc (Lond.) 1856;7:229-34.
    • (1856) Trans Pathol Soc (Lond.) , vol.7 , pp. 229-234
    • Bristowe, F.1
  • 19
    • 0035023554 scopus 로고    scopus 로고
    • Polycystic kidney rat is a novel animal model of Caroli's disease associated with congenital hepatic fibrosis
    • Sanzen T, Harada K, Yasoshima M, Kawamura Y, Ishibashi M, Nakanuma Y. Polycystic kidney rat is a novel animal model of Caroli's disease associated with congenital hepatic fibrosis. Am J Pathol 2001;158:1605-12.
    • (2001) Am J Pathol , vol.158 , pp. 1605-1612
    • Sanzen, T.1    Harada, K.2    Yasoshima, M.3    Kawamura, Y.4    Ishibashi, M.5    Nakanuma, Y.6
  • 20
    • 0035171012 scopus 로고    scopus 로고
    • The pck rat: A new model that resembles human autosomal dominant polycystic kidney and liver disease
    • Lager DJ, Qian Q, Bengal RJ, Ishibashi M, Torres VE. The pck rat: a new model that resembles human autosomal dominant polycystic kidney and liver disease. Kidney Int 2001;59:126-36.
    • (2001) Kidney Int , vol.59 , pp. 126-136
    • Lager, D.J.1    Qian, Q.2    Bengal, R.J.3    Ishibashi, M.4    Torres, V.E.5
  • 23
    • 0029002967 scopus 로고
    • Polycystic kidney disease: The complete structure of the PKD1 gene and its protein
    • International Polycystic Kidney Disease Consortium. Polycystic kidney disease: the complete structure of the PKD1 gene and its protein. Cell 1995;81:289-98.
    • (1995) Cell , vol.81 , pp. 289-298
  • 31
    • 0035140597 scopus 로고    scopus 로고
    • New insights: Nephronophthisis-medullary cystic kidney disease
    • Hildebrandt F, Omram H. New insights: nephronophthisis-medullary cystic kidney disease. Pediatr Nephrol 2001;16:168-76.
    • (2001) Pediatr Nephrol , vol.16 , pp. 168-176
    • Hildebrandt, F.1    Omram, H.2
  • 32
    • 0034630157 scopus 로고    scopus 로고
    • Crk-associated substrate p130(Cas) interacts with nephrocystin and both proteins localize to cell-cell contacts of polarized epithelial cells
    • Donaldson JC, Dempsey PJ, Reddy S, Bouton AH, Coffey RJ, Hanks SK. Crk-associated substrate p130(Cas) interacts with nephrocystin and both proteins localize to cell-cell contacts of polarized epithelial cells. Exp Cell Res 2000;256:168-78.
    • (2000) Exp Cell Res , vol.256 , pp. 168-178
    • Donaldson, J.C.1    Dempsey, P.J.2    Reddy, S.3    Bouton, A.H.4    Coffey, R.J.5    Hanks, S.K.6
  • 33
    • 0017760112 scopus 로고
    • Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients
    • Oberklaid F, Danks DM, Mayne V, Campbell P. Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients. Arch Dis Child 1977;52:758-65.
    • (1977) Arch Dis Child , vol.52 , pp. 758-765
    • Oberklaid, F.1    Danks, D.M.2    Mayne, V.3    Campbell, P.4
  • 34
    • 0021961977 scopus 로고
    • Necropsy findings in neonatal asphyxiating thoracic dystrophy
    • Beckwitt Turkel S, Diehl EJ, Richmond JA. Necropsy findings in neonatal asphyxiating thoracic dystrophy. J Med Genet 1985;22:112-18.
    • (1985) J Med Genet , vol.22 , pp. 112-118
    • Beckwitt Turkel, S.1    Diehl, E.J.2    Richmond, J.A.3
  • 39
    • 0029912957 scopus 로고    scopus 로고
    • Jeune syndrome with tongue lobulation and preaxial polydactyly, and Jeune syndrome with situs inversus and asplenia: Compound heterozygosity Jeune-Mohr and Jeune-Ivemark?
    • Majewski E, Ozturk B, Gillessen-Kaesbach G. Jeune syndrome with tongue lobulation and preaxial polydactyly, and Jeune syndrome with situs inversus and asplenia: compound heterozygosity Jeune-Mohr and Jeune-Ivemark? Am J Med Genet 1996;63:74-9.
    • (1996) Am J Med Genet , vol.63 , pp. 74-79
    • Majewski, E.1    Ozturk, B.2    Gillessen-Kaesbach, G.3
  • 41
    • 0035475115 scopus 로고    scopus 로고
    • Exploring the molecular basis of Bardet-Biedl syndrome
    • Katsanis N, Lupski J, Beales PL. Exploring the molecular basis of Bardet-Biedl syndrome. Hum Mol Genet 2001;10:2293-9.
    • (2001) Hum Mol Genet , vol.10 , pp. 2293-2299
    • Katsanis, N.1    Lupski, J.2    Beales, P.L.3
  • 43
    • 0002584179 scopus 로고
    • Beschreibung zweier, durch sehr ähnliche Bildungsabweichungen entstelter Geschwister
    • Meckel JF. Beschreibung zweier, durch sehr ähnliche Bildungsabweichungen entstelter Geschwister. Dtsch Arch Physiol 1822;7:99-172.
    • (1822) Dtsch Arch Physiol , vol.7 , pp. 99-172
    • Meckel, J.F.1
  • 44
    • 0001207222 scopus 로고
    • Beitraege zur frage "gekoppelter" missbildungen (akrocephalo-syndactylie und dysencephalia splanchnocystica)
    • Gruber GB: Beitraege zur Frage "gekoppelter" Missbildungen (Akrocephalo-Syndactylie und Dysencephalia splanchnocystica). Beitr Pathol Anat Allgem Pathol 1934;93:459-76.
    • (1934) Beitr Pathol Anat Allgem Pathol , vol.93 , pp. 459-476
    • Gruber, G.B.1
  • 45
    • 0025086847 scopus 로고
    • A distinctive triad of malformations of the central nervous system in the Meckel-Gruber syndrome
    • Ahdab-Barmada M, Claassen D. A distinctive triad of malformations of the central nervous system in the Meckel-Gruber syndrome. J Neuropathol Exp Neurol 1990;49:610-20.
    • (1990) J Neuropathol Exp Neurol , vol.49 , pp. 610-620
    • Ahdab-Barmada, M.1    Claassen, D.2
  • 47
    • 0033849483 scopus 로고    scopus 로고
    • Contribution of apoptosis and apoptosis-related proteins to the malformations of the primitive intrahepatic biliary system in Meckel syndrome
    • Sergi C, Kahl P, Otto HF. Contribution of apoptosis and apoptosis-related proteins to the malformations of the primitive intrahepatic biliary system in Meckel syndrome. Am J Pathol 2000;156:1589-98.
    • (2000) Am J Pathol , vol.156 , pp. 1589-1598
    • Sergi, C.1    Kahl, P.2    Otto, H.F.3
  • 50
    • 0028980029 scopus 로고
    • The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24
    • Paavola P, Salonen R, Weissenbach J, Peltonen L. The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24. Nat Genet 1995;11:213-15.
    • (1995) Nat Genet , vol.11 , pp. 213-215
    • Paavola, P.1    Salonen, R.2    Weissenbach, J.3    Peltonen, L.4
  • 53
    • 0028950058 scopus 로고
    • Dandy-Walker malformation in the Meckel syndrome
    • Summers MC, Donnenfeld AE. Dandy-Walker malformation in the Meckel syndrome. Am J Med Genet 1995;55:57-61.
    • (1995) Am J Med Genet , vol.55 , pp. 57-61
    • Summers, M.C.1    Donnenfeld, A.E.2
  • 54
  • 56
    • 0026007134 scopus 로고
    • Familial renal-hepatic-pancreatic dysplasia and Dandy-Walker cyst: A distinct syndrome?
    • Hunter AG, Jimenez C, Tawagi FG. Familial renal-hepatic-pancreatic dysplasia and Dandy-Walker cyst: a distinct syndrome? Am J Med Genet 1991;41:201-7.
    • (1991) Am J Med Genet , vol.41 , pp. 201-207
    • Hunter, A.G.1    Jimenez, C.2    Tawagi, F.G.3
  • 60
    • 0023691575 scopus 로고
    • Gene expression in the embryonic nervous system of Xenopus laevis
    • Richter K, Grunz H, Dawid IB. Gene expression in the embryonic nervous system of Xenopus laevis. Proc Natl Acad Sci USA 1988;85:8086-90.
    • (1988) Proc Natl Acad Sci USA , vol.85 , pp. 8086-8090
    • Richter, K.1    Grunz, H.2    Dawid, I.B.3
  • 63
    • 0022880711 scopus 로고
    • A new syndrome with features of the Smith-Lemli-Opitz and Meckel-Gruber syndromes in a sibship with cerebellar defects
    • Casamassima AC, Mamunes P, Gladstone IM, Solomon S, Moncure C. A new syndrome with features of the Smith-Lemli-Opitz and Meckel-Gruber syndromes in a sibship with cerebellar defects. Am J Med Genet 1987;26:321-36.
    • (1987) Am J Med Genet , vol.26 , pp. 321-336
    • Casamassima, A.C.1    Mamunes, P.2    Gladstone, I.M.3    Solomon, S.4    Moncure, C.5
  • 64
    • 0020580302 scopus 로고
    • Variability in the Smith-Lemli-Opitz syndrome: Overlap with the Meckel syndrome
    • Lowry RB. Variability in the Smith-Lemli-Opitz syndrome: overlap with the Meckel syndrome. Am J Med Genet 1983;14:429-33.
    • (1983) Am J Med Genet , vol.14 , pp. 429-433
    • Lowry, R.B.1
  • 65
    • 0035976543 scopus 로고    scopus 로고
    • Hedgehog signalling: A tale of two lipids
    • Ingham PW. Hedgehog signalling: a tale of two lipids. Science 2001;294:1879-81.
    • (2001) Science , vol.294 , pp. 1879-1881
    • Ingham, P.W.1
  • 66
    • 0022624250 scopus 로고
    • Glutaric aciduria type II. Phenotypic findings and ultrastructural studies of brain and kidney
    • Harkin JC, Gill WL, Shapira E. Glutaric aciduria type II. Phenotypic findings and ultrastructural studies of brain and kidney. Arch Pathol Lab Med 1986;110:399-401.
    • (1986) Arch Pathol Lab Med , vol.110 , pp. 399-401
    • Harkin, J.C.1    Gill, W.L.2    Shapira, E.3
  • 67
    • 0001687866 scopus 로고    scopus 로고
    • Peroxisomal biogenesis disorders
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds. London: McGraw-Hill Professional Publications
    • Gould S, Raymond GV, Valle D. Peroxisomal biogenesis disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular basis of inherited disease. 8th ed. London: McGraw-Hill Professional Publications, 2001:3181-99.
    • (2001) The Metabolic and Molecular Basis of Inherited Disease. 8th Ed. , pp. 3181-3199
    • Gould, S.1    Raymond, G.V.2    Valle, D.3
  • 70
    • 0034701192 scopus 로고    scopus 로고
    • Germline and somatic loss of function of the mouse cpk gene causes biliary ductal pathology that is genetically modulated
    • Guay-Woodford LM, Green WJ, Lindsey JR, Beier DR. Germline and somatic loss of function of the mouse cpk gene causes biliary ductal pathology that is genetically modulated. Hum Mol Genet 2000;22:769-78.
    • (2000) Hum Mol Genet , vol.22 , pp. 769-778
    • Guay-Woodford, L.M.1    Green, W.J.2    Lindsey, J.R.3    Beier, D.R.4
  • 71
    • 0027238893 scopus 로고
    • Juvenile cystic kidneys (jck): A new mouse mutation which causes polycystic kidneys
    • Atala A, Freeman MR, Mandell J, Beier DR. Juvenile cystic kidneys (jck): a new mouse mutation which causes polycystic kidneys. Kidney Int 1993;43:1081-5.
    • (1993) Kidney Int , vol.43 , pp. 1081-1085
    • Atala, A.1    Freeman, M.R.2    Mandell, J.3    Beier, D.R.4
  • 72
    • 0027406817 scopus 로고
    • Renal and biliary abnormalities in a new murine model of autosomal recessive polycystic kidney disease
    • Nauta J, Ozawa Y, Sweeney WE Jr, Rutledge JC, Avner ED. Renal and biliary abnormalities in a new murine model of autosomal recessive polycystic kidney disease. Pediatr Nephrol 1993;7:163-72.
    • (1993) Pediatr Nephrol , vol.7 , pp. 163-172
    • Nauta, J.1    Ozawa, Y.2    Sweeney W.E., Jr.3    Rutledge, J.C.4    Avner, E.D.5
  • 73
    • 0029995613 scopus 로고    scopus 로고
    • Expression of keratinocyte growth factor in embryonic liver of transgenic mice causes changes in epithelial growth and differentiation resulting in polycystic kidneys and other organ malformations
    • Nguyen HQ, Danilenko DM, Bucay N, DeRose ML, Van GY, Thomason A, Simonet WS. Expression of keratinocyte growth factor in embryonic liver of transgenic mice causes changes in epithelial growth and differentiation resulting in polycystic kidneys and other organ malformations. Oncogene 1996;12:2109-19.
    • (1996) Oncogene , vol.12 , pp. 2109-2119
    • Nguyen, H.Q.1    Danilenko, D.M.2    Bucay, N.3    DeRose, M.L.4    Van, G.Y.5    Thomason, A.6    Simonet, W.S.7
  • 74
    • 0025801311 scopus 로고
    • C-myc as an inducer of polycystic kidney disease in transgenic mice
    • Trudel M, D'Agati V, Costantini F. C-myc as an inducer of polycystic kidney disease in transgenic mice. Kidney Int 1991;39:665-71.
    • (1991) Kidney Int , vol.39 , pp. 665-671
    • Trudel, M.1    D'Agati, V.2    Costantini, F.3
  • 75
    • 0028175759 scopus 로고    scopus 로고
    • Targeted disruption of Bcl-2 in mice: Occurrence of gray hair, polycystic kidney disease and lymphocytopenia
    • Nakayama K, Nakayama K, Negishi I, Kuida K, Sawa H, Loh DY. Targeted disruption of Bcl-2 in mice: occurrence of gray hair, polycystic kidney disease and lymphocytopenia. Proc Natl Acad Sci USA 1996;91:3700-4.
    • (1996) Proc Natl Acad Sci USA , vol.91 , pp. 3700-3704
    • Nakayama, K.1    Nakayama, K.2    Negishi, I.3    Kuida, K.4    Sawa, H.5    Loh, D.Y.6
  • 76
    • 0032734174 scopus 로고    scopus 로고
    • Cell adhesion molecules, signal transduction and cell growth
    • Aplin AE, Howe AK, Juliano RL. Cell adhesion molecules, signal transduction and cell growth. Curr Opin Cell Biol 1999;11:737-44.
    • (1999) Curr Opin Cell Biol , vol.11 , pp. 737-744
    • Aplin, A.E.1    Howe, A.K.2    Juliano, R.L.3
  • 77
    • 0035079832 scopus 로고    scopus 로고
    • Polycystin: New aspects of structure, function and regulation
    • Wilson PD. Polycystin: new aspects of structure, function and regulation. J Am Soc Nephrol 2001;12:834-45.
    • (2001) J Am Soc Nephrol , vol.12 , pp. 834-845
    • Wilson, P.D.1


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