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Volumn , Issue , 2017, Pages 369-390

Nephronophthisis and autosomal dominant interstitial kidney disease (ADIKD)

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EID: 85037732520     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-3-662-52972-0_13     Document Type: Chapter
Times cited : (5)

References (87)
  • 2
    • 0001660623 scopus 로고
    • Congenital medullary cysts of kidneys with severe refractory anemia
    • Smith C, Graham J. Congenital medullary cysts of kidneys with severe refractory anemia. Am J Dis Child. 1945;69:369-77.
    • (1945) Am J Dis Child , vol.69 , pp. 369-377
    • Smith, C.1    Graham, J.2
  • 4
    • 0019186988 scopus 로고
    • Nephronophthisis (medullary cystic disease of the kidney). A study using electron microscopy, immunofluorescence, and a review of the morphological findings
    • Zollinger HU, Mihatsch MJ, Edefonti A, Gaboardi F, Imbasciati E, Lennert T. Nephronophthisis (medullary cystic disease of the kidney). A study using electron microscopy, immunofluorescence, and a review of the morphological findings. Helv Paediatr Acta. 1980;35:509-30.
    • (1980) Helv Paediatr Acta , vol.35 , pp. 509-530
    • Zollinger, H.U.1    Mihatsch, M.J.2    Edefonti, A.3    Gaboardi, F.4    Imbasciati, E.5    Lennert, T.6
  • 6
    • 0031055335 scopus 로고    scopus 로고
    • Molecular genetic identification of families with juvenile nephronophthisis type 1: rate of progression to renal failure. APN Study Group. Arbeitsgemeinschaft fuer Paediatrische Nephrologie
    • Hildebrandt F, Strahm B, Nothwang HG, Gretz N, Schnieders B, Singh-Sawhney I, Kutt R, Vollmer M, Brandis M. Molecular genetic identification of families with juvenile nephronophthisis type 1: rate of progression to renal failure. APN Study Group. Arbeitsgemeinschaft fuer Paediatrische Nephrologie. Kidney Int. 1997;51:261-9.
    • (1997) Kidney Int , vol.51 , pp. 261-269
    • Hildebrandt, F.1    Strahm, B.2    Nothwang, H.G.3    Gretz, N.4    Schnieders, B.5    Singh-Sawhney, I.6    Kutt, R.7    Vollmer, M.8    Brandis, M.9
  • 8
    • 0032231645 scopus 로고    scopus 로고
    • A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping
    • Haider NB, Carmi R, Shalev H, Sheffield VC, Landau D. A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping. Am J Hum Genet. 1998;63:1404-10.
    • (1998) Am J Hum Genet , vol.63 , pp. 1404-1410
    • Haider, N.B.1    Carmi, R.2    Shalev, H.3    Sheffield, V.C.4    Landau, D.5
  • 10
    • 0024535334 scopus 로고
    • Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity ?
    • Gagnadoux MF, Bacri JL, Broyer M, Habib R. Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity ? Pediatr Nephrol. 1989;3:50-5.
    • (1989) Pediatr Nephrol , vol.3 , pp. 50-55
    • Gagnadoux, M.F.1    Bacri, J.L.2    Broyer, M.3    Habib, R.4
  • 17
    • 0035132558 scopus 로고    scopus 로고
    • Arbeitsgemeinschaft fuer Paediatrische Nephrologie (APN) Study Group: establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis
    • Hildebrandt F, Rensing C, Betz R, Sommer U, Birnbaum S, Imm A, Omran H, Leipoldt M, Otto E. Arbeitsgemeinschaft fuer Paediatrische Nephrologie (APN) Study Group: establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis. Kidney Int. 2001;59(2):434-45.
    • (2001) Kidney Int , vol.59 , Issue.2 , pp. 434-445
    • Hildebrandt, F.1    Rensing, C.2    Betz, R.3    Sommer, U.4    Birnbaum, S.5    Imm, A.6    Omran, H.7    Leipoldt, M.8    Otto, E.9
  • 20
    • 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
  • 21
    • 0035859888 scopus 로고    scopus 로고
    • Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2
    • Benzing T, Gerke P, Hopker K, Hildebrandt F, Kim E, Walz G. Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2. Proc Natl Acad Sci U S A. 2001;98(17):9784-9.
    • (2001) Proc Natl Acad Sci U S A , vol.98 , Issue.17 , pp. 9784-9789
    • Benzing, T.1    Gerke, P.2    Hopker, K.3    Hildebrandt, F.4    Kim, E.5    Walz, G.6
  • 24
    • 14644403727 scopus 로고    scopus 로고
    • Characterization of the nephrocystin/ nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes
    • Mollet G, Silbermann F, Delous M, Salomon R, Antignac C, Saunier S. Characterization of the nephrocystin/ nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes. Hum Mol Genet. 2005;14:645-56.
    • (2005) Hum Mol Genet , vol.14 , pp. 645-656
    • Mollet, G.1    Silbermann, F.2    Delous, M.3    Salomon, R.4    Antignac, C.5    Saunier, S.6
  • 28
    • 0034089698 scopus 로고    scopus 로고
    • Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis
    • Betz R, Rensing C, Otto E, Mincheva A, Zehnder D, Lichter P, Hildebrandt F. Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. J Pediatr. 2000;136:828-31.
    • (2000) J Pediatr , vol.136 , pp. 828-831
    • Betz, R.1    Rensing, C.2    Otto, E.3    Mincheva, A.4    Zehnder, D.5    Lichter, P.6    Hildebrandt, F.7
  • 34
    • 0035140597 scopus 로고    scopus 로고
    • New insights:nephronophthisis-medullary cystic kidney disease
    • Hildebrandt F, Omran 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    Omran, H.2
  • 36
    • 0000784877 scopus 로고
    • Juvenile familial nephropathy with tapetoretinal degeneration: a new oculo-renal dystrophy
    • Senior B, Friedmann AI, Braudo JL. Juvenile familial nephropathy with tapetoretinal degeneration: a new oculo-renal dystrophy. Am J Opthalmol. 1961;52:625-33.
    • (1961) Am J Opthalmol , vol.52 , pp. 625-633
    • Senior, B.1    Friedmann, A.I.2    Braudo, J.L.3
  • 38
    • 0000840396 scopus 로고
    • Über anormale Formen der Retinitis pigmentosa
    • Leber T. Über anormale Formen der Retinitis pigmentosa. Arch Ophthalmol. 1871;17:314-41.
    • (1871) Arch Ophthalmol , vol.17 , pp. 314-341
    • Leber, T.1
  • 39
    • 0014373715 scopus 로고
    • Leber's congenital tapeto-retinal degeneration
    • François J. Leber's congenital tapeto-retinal degeneration. Int Ophthalmol Clin. 1968;8:929-47.
    • (1968) Int Ophthalmol Clin , vol.8 , pp. 929-947
    • François, J.1
  • 40
    • 84940140093 scopus 로고
    • L'importance diagnostique de l'éléctrorétinogramme dans le dégénérescences tapéto-rétinennes avec rétrécissement du champ visuel et héméralopie
    • Franceschetti A, Dieterle P. L'importance diagnostique de l'éléctrorétinogramme dans le dégénérescences tapéto-rétinennes avec rétrécissement du champ visuel et héméralopie. Conf Neurol. 1954;14:184-6.
    • (1954) Conf Neurol , vol.14 , pp. 184-186
    • Franceschetti, A.1    Dieterle, P.2
  • 41
    • 79960937678 scopus 로고    scopus 로고
    • The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders
    • Sattar S, Gleeson JG. The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders. Dev Med Child Neurol. 2011;53(9):793-8.
    • (2011) Dev Med Child Neurol , vol.53 , Issue.9 , pp. 793-798
    • Sattar, S.1    Gleeson, J.G.2
  • 48
    • 84865957680 scopus 로고    scopus 로고
    • Educational paper: ciliopathies
    • Bergmann C. Educational paper: ciliopathies. Eur J Pediatr. 2012;171(9):1285-300.
    • (2012) Eur J Pediatr , vol.171 , Issue.9 , pp. 1285-1300
    • Bergmann, C.1
  • 50
    • 33746706805 scopus 로고    scopus 로고
    • Meckel-Gruber syndrome: pathologic manifestations, minimal diagnostic criteria, and differential diagnosis
    • Alexiev BA, Lin X, Sun CC, Brenner DS. Meckel-Gruber syndrome: pathologic manifestations, minimal diagnostic criteria, and differential diagnosis. Arch Pathol Lab Med. 2006;130(8):1236-8.
    • (2006) Arch Pathol Lab Med , vol.130 , Issue.8 , pp. 1236-1238
    • Alexiev, B.A.1    Lin, X.2    Sun, C.C.3    Brenner, D.S.4
  • 51
    • 0015253913 scopus 로고
    • Heredity of congenital ocular motor apraxia
    • Cogan DG. Heredity of congenital ocular motor apraxia. Trans Am Acad Ophthal Otolaryngol. 1972;76:60-3.
    • (1972) Trans Am Acad Ophthal Otolaryngol , vol.76 , pp. 60-63
    • Cogan, D.G.1
  • 52
    • 0035877183 scopus 로고    scopus 로고
    • Retinitis pigmentosa, growth hormone deficiency, and acromelic skeletal dysplasia in two brothers: possible familial RHYNS syndrome
    • Hedera P, Gorski JL. Retinitis pigmentosa, growth hormone deficiency, and acromelic skeletal dysplasia in two brothers: possible familial RHYNS syndrome. Am J Med Genet. 2001;101:142-5.
    • (2001) Am J Med Genet , vol.101 , pp. 142-145
    • Hedera, P.1    Gorski, J.L.2
  • 53
    • 0014865926 scopus 로고
    • Familial nephropathy associated with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities
    • Mainzer F, Saldino RM, Ozonoff MB, Minagi H. Familial nephropathy associated with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities. Am J Med. 1970;49:556-62.
    • (1970) Am J Med , vol.49 , pp. 556-562
    • Mainzer, F.1    Saldino, R.M.2    Ozonoff, M.B.3    Minagi, H.4
  • 54
    • 0018395163 scopus 로고
    • Phalangeal cone shaped epiphysis of the hands (PhCSEH) and chronic renal disease: the conorenal syndromes
    • Giedion A. Phalangeal cone shaped epiphysis of the hands (PhCSEH) and chronic renal disease: the conorenal syndromes. Pediatr Radiol. 1979;8:32-8.
    • (1979) Pediatr Radiol , vol.8 , pp. 32-38
    • Giedion, A.1
  • 55
    • 0017089215 scopus 로고
    • Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities
    • Popovic-Rolovic M, Calic-Perisic N, Bunjevacki G, Negovanovic D. Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities. Arch Dis Child. 1976;51:801-3.
    • (1976) Arch Dis Child , vol.51 , pp. 801-803
    • Popovic-Rolovic, M.1    Calic-Perisic, N.2    Bunjevacki, G.3    Negovanovic, D.4
  • 56
    • 0017168601 scopus 로고
    • Juvenile nephronophthisis associated with skeletal abnormalities and hepatic fibrosis
    • Robins DG, French TA, Chakera TM. Juvenile nephronophthisis associated with skeletal abnormalities and hepatic fibrosis. Arch Dis Child. 1976;51:799-801.
    • (1976) Arch Dis Child , vol.51 , pp. 799-801
    • Robins, D.G.1    French, T.A.2    Chakera, T.M.3
  • 57
    • 0015535125 scopus 로고
    • Congenital hepatic fibrosis and nephronophthisis: a family study
    • Boichis H, Passwell J, David R, Miller H. Congenital hepatic fibrosis and nephronophthisis: a family study. Q J Med. 1973;42:221-33.
    • (1973) Q J Med , vol.42 , pp. 221-233
    • Boichis, H.1    Passwell, J.2    David, R.3    Miller, H.4
  • 58
    • 0016787765 scopus 로고
    • Nephronophthisis and tapetoretinal degeneration associated with liver fibrosis
    • Proesmans W, Van Damme B, Macken J. Nephronophthisis and tapetoretinal degeneration associated with liver fibrosis. Clin Nephrol. 1975;3:160-4.
    • (1975) Clin Nephrol , vol.3 , pp. 160-164
    • Proesmans, W.1    Van Damme, B.2    Macken, J.3
  • 59
    • 0018084847 scopus 로고
    • Juvenile nephronophthisis, congenital hepatic fibrosis and retinal hypoplasia in twins
    • 66:558-63
    • Delaney V, Mullaney J, Bourke E. Juvenile nephronophthisis, congenital hepatic fibrosis and retinal hypoplasia in twins. Q J Med. 1978;186:281-96. 66:558-63.
    • (1978) Q J Med , vol.186 , pp. 281-296
    • Delaney, V.1    Mullaney, J.2    Bourke, E.3
  • 60
    • 0027213836 scopus 로고
    • Glomerulocystic kidney disease - nosological considerations
    • Bernstein J. Glomerulocystic kidney disease - nosological considerations. Pediatr Nephrol. 1993;7:464-70.
    • (1993) Pediatr Nephrol , vol.7 , pp. 464-470
    • Bernstein, J.1
  • 63
    • 66349117479 scopus 로고    scopus 로고
    • Glis 3 is associated with primary cilia and Wwtr1/TAZ and implicated in polycystic kidney disease
    • Kang HS, Beak JY, Kim YS, Herbert R, Jetten AM. Glis 3 is associated with primary cilia and Wwtr1/TAZ and implicated in polycystic kidney disease. Mol Cell Biol. 2009;29:2556-69.
    • (2009) Mol Cell Biol , vol.29 , pp. 2556-2569
    • Kang, H.S.1    Beak, J.Y.2    Kim, Y.S.3    Herbert, R.4    Jetten, A.M.5
  • 64
    • 36849037019 scopus 로고    scopus 로고
    • A critical developmental switch defines the kinetics of kidney cyst formation after loss of pkd1
    • Piontek K, Menezes LF, Garcia-Gonzalez MA, Huso DL, Germino GG. A critical developmental switch defines the kinetics of kidney cyst formation after loss of pkd1. Nat Med. 2007;13:1490-5.
    • (2007) Nat Med , vol.13 , pp. 1490-1495
    • Piontek, K.1    Menezes, L.F.2    Garcia-Gonzalez, M.A.3    Huso, D.L.4    Germino, G.G.5
  • 66
    • 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. 2005;6:928-4.
    • (2005) Nat Rev Genet , vol.6 , pp. 928-934
    • Hildebrandt, F.1    Otto, E.2
  • 68
    • 0042667181 scopus 로고    scopus 로고
    • From cilia to cyst
    • Watnick T, Germino G. From cilia to cyst. Nat Genet. 2003;34:355-6.
    • (2003) Nat Genet , vol.34 , pp. 355-356
    • Watnick, T.1    Germino, G.2
  • 69
    • 84883454373 scopus 로고    scopus 로고
    • Assembling a primary cilium
    • Kim S, Dynlacht BD. Assembling a primary cilium. Curr Opin Cell Biol. 2013;25(4):506-11.
    • (2013) Curr Opin Cell Biol , vol.25 , Issue.4 , pp. 506-511
    • Kim, S.1    Dynlacht, B.D.2
  • 70
    • 77956375302 scopus 로고    scopus 로고
    • NPHP proteins: gatekeepers of the ciliary compartment
    • Omran H. NPHP proteins: gatekeepers of the ciliary compartment. J Cell Biol. 2010;190(5):715-7.
    • (2010) J Cell Biol , vol.190 , Issue.5 , pp. 715-717
    • Omran, H.1
  • 71
    • 54849435468 scopus 로고    scopus 로고
    • Outcomes of kidney transplantation in children with nephronophthisis: an analysis of the North American Pediatric Renal Trials and Collaborative Studies (NAPRTCS) Registry
    • Hamiwka LA, Midgley JP, Wade AW, Martz KL, Grisaru S. Outcomes of kidney transplantation in children with nephronophthisis: an analysis of the North American Pediatric Renal Trials and Collaborative Studies (NAPRTCS) Registry. Pediatr Transplant. 2008;12:878-82.
    • (2008) Pediatr Transplant , vol.12 , pp. 878-882
    • Hamiwka, L.A.1    Midgley, J.P.2    Wade, A.W.3    Martz, K.L.4    Grisaru, S.5
  • 72
    • 0016160226 scopus 로고
    • Cystic diseases of the kidney: a perspective on medullary cystic disease
    • Gardner KD. Cystic diseases of the kidney: a perspective on medullary cystic disease. Birth Defects Orig Artic Ser. 1974;10:29-31.
    • (1974) Birth Defects Orig Artic Ser , vol.10 , pp. 29-31
    • Gardner, K.D.1
  • 74
    • 0014211123 scopus 로고
    • Medullary cystic disease and familial juvenile nephronophthisis
    • Strauss MB, Sommers SC. Medullary cystic disease and familial juvenile nephronophthisis. N Engl J Med. 1967;277:863-4.
    • (1967) N Engl J Med , vol.277 , pp. 863-864
    • Strauss, M.B.1    Sommers, S.C.2
  • 77
    • 0033850904 scopus 로고    scopus 로고
    • Localization of a gene for familial juvenile hyperuricemic nephropathy causing underexcretion-type gout to 16p12 by genome-wide linkage analysis of a large family
    • Kamatani N, Moritani M, Yamanaka H, Takeuchi F, Hosoya T, Itakura M. Localization of a gene for familial juvenile hyperuricemic nephropathy causing underexcretion-type gout to 16p12 by genome-wide linkage analysis of a large family. Arthritis Rheum. 2000;43:925-9.
    • (2000) Arthritis Rheum , vol.43 , pp. 925-929
    • Kamatani, N.1    Moritani, M.2    Yamanaka, H.3    Takeuchi, F.4    Hosoya, T.5    Itakura, M.6
  • 81
    • 78751528090 scopus 로고    scopus 로고
    • Tamm-Horsfall glycoprotein interacts with renal outer medullary potassium channel ROMK2 and regulates its function
    • Renigunta A, Renigunta V, Saritas T, Decher N, Mutig K, Waldegger S. Tamm-Horsfall glycoprotein interacts with renal outer medullary potassium channel ROMK2 and regulates its function. J Biol Chem. 2011;286:2224-35.
    • (2011) J Biol Chem , vol.286 , pp. 2224-2235
    • Renigunta, A.1    Renigunta, V.2    Saritas, T.3    Decher, N.4    Mutig, K.5    Waldegger, S.6


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