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Volumn 21, Issue 11, 2006, Pages 3133-3138

Genetics and clinical features of 15 Asian families with steroid-resistant nephrotic syndrome

Author keywords

FSGS; Linkage; Mutation; Nephrotic syndrome; Podocyte

Indexed keywords

ANGIOTENSIN 2 RECEPTOR ANTAGONIST; CYCLOPHOSPHAMIDE; CYCLOSPORIN; CYCLOSPORIN A; IMMUNOSUPPRESSIVE AGENT; NEPHRIN; PODOCIN; PREDNISOLONE; STEROID;

EID: 33749996213     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfl347     Document Type: Article
Times cited : (18)

References (33)
  • 1
    • 0031884633 scopus 로고    scopus 로고
    • A locus for inherited focal segmental glomerulosclerosis maps to chromosome 19q13
    • Mathis BJ, Kim SH, Calabrese K et al. A locus for inherited focal segmental glomerulosclerosis maps to chromosome 19q13. Kidney Int 1998; 53: 282-286
    • (1998) Kidney Int , vol.53 , pp. 282-286
    • Mathis, B.J.1    Kim, S.H.2    Calabrese, K.3
  • 2
    • 0033152045 scopus 로고    scopus 로고
    • Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity
    • Winn MP, Conlon PJ, Lynn KL et al. Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity. Genomics 1999; 58: 113-120
    • (1999) Genomics , vol.58 , pp. 113-120
    • Winn, M.P.1    Conlon, P.J.2    Lynn, K.L.3
  • 3
    • 0037530572 scopus 로고    scopus 로고
    • Autosomal dominant progressive nephropathy with deafness: Linkage to a new locus on chromosome 11q24
    • Prakash S, Chung KW, Sinha S et al. Autosomal dominant progressive nephropathy with deafness: Linkage to a new locus on chromosome 11q24. J Am Soc Nephrol 2003; 14: 1794-1803
    • (2003) J Am Soc Nephrol , vol.14 , pp. 1794-1803
    • Prakash, S.1    Chung, K.W.2    Sinha, S.3
  • 4
    • 0034051681 scopus 로고    scopus 로고
    • Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis
    • Kaplan JM, Kim SH, North KN et al. Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. Nat Genet 2000; 24: 251-256
    • (2000) Nat Genet , vol.24 , pp. 251-256
    • Kaplan, J.M.1    Kim, S.H.2    North, K.N.3
  • 5
    • 20844461826 scopus 로고    scopus 로고
    • A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis
    • Winn MP, Conlon PJ, Lynn KL et al. A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. Science 2005; 308: 1801-1804
    • (2005) Science , vol.308 , pp. 1801-1804
    • Winn, M.P.1    Conlon, P.J.2    Lynn, K.L.3
  • 6
    • 0028863565 scopus 로고
    • Fine mapping and haplotype analysis of the locus for congenital nephrotic syndrome on chromosome 19q13.1
    • Mannikko M, Kestaila M, Holmberg C et al. Fine mapping and haplotype analysis of the locus for congenital nephrotic syndrome on chromosome 19q13.1. Am J Hum Genet 1995; 57: 1377-1383
    • (1995) Am J Hum Genet , vol.57 , pp. 1377-1383
    • Mannikko, M.1    Kestaila, M.2    Holmberg, C.3
  • 7
    • 0028792063 scopus 로고
    • Mapping a gene (SRNS1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis
    • Fuchshuber A, Jean G, Gribouval O et al. Mapping a gene (SRNS1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis. Hum Mol Genet 1995; 4: 2155-2158
    • (1995) Hum Mol Genet , vol.4 , pp. 2155-2158
    • Fuchshuber, A.1    Jean, G.2    Gribouval, O.3
  • 8
    • 0037836006 scopus 로고    scopus 로고
    • A gene locus for steroid-resistant nephrotic syndrome with deafness maps to chromosome 14q24.2
    • Ruf RG, Wolf MT, Hennies HC et al. A gene locus for steroid-resistant nephrotic syndrome with deafness maps to chromosome 14q24.2. J Am Soc Nephrol 2003; 14: 1519-1522
    • (2003) J Am Soc Nephrol , vol.14 , pp. 1519-1522
    • Ruf, R.G.1    Wolf, M.T.2    Hennies, H.C.3
  • 9
    • 0038205887 scopus 로고    scopus 로고
    • Identification of the first gene locus (SSNS1) for steroid-sensitive nephrotic syndrome on chromosome 2p
    • Ruf RG, Fuchshuber A, Karle SM et al. Identification of the first gene locus (SSNS1) for steroid-sensitive nephrotic syndrome on chromosome 2p. J Am Soc Nephrol 2003; 14: 1897-1900
    • (2003) J Am Soc Nephrol , vol.14 , pp. 1897-1900
    • Ruf, R.G.1    Fuchshuber, A.2    Karle, S.M.3
  • 10
    • 0032015551 scopus 로고    scopus 로고
    • Positionally cloned gene for a novel glomerular protein - Nephrin - Is mutated in congenital nephrotic syndrome
    • Kestila M, Lenkkeri U, Mannikko M et al. Positionally cloned gene for a novel glomerular protein - nephrin - is mutated in congenital nephrotic syndrome. Mol Cell 1998; 1: 575-582
    • (1998) Mol Cell , vol.1 , pp. 575-582
    • Kestila, M.1    Lenkkeri, U.2    Mannikko, M.3
  • 11
    • 0034034757 scopus 로고    scopus 로고
    • NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome
    • Boute N, Gribouval O, Roselli S et al. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat Genet 2000; 24: 349-354
    • (2000) Nat Genet , vol.24 , pp. 349-354
    • Boute, N.1    Gribouval, O.2    Roselli, S.3
  • 12
    • 0035510132 scopus 로고    scopus 로고
    • Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: Insight into the mechanisms of congenital nephrotic syndrome
    • Liu L, Done SC, Khoshnoodi J et al. Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: Insight into the mechanisms of congenital nephrotic syndrome. Hum Mol Genet 2001; 10: 2637-2644
    • (2001) Hum Mol Genet , vol.10 , pp. 2637-2644
    • Liu, L.1    Done, S.C.2    Khoshnoodi, J.3
  • 13
    • 0037805606 scopus 로고    scopus 로고
    • Nephrin and Neph1 co-localize at the podocyte foot process intercellular junction and form cis hetero-oligomers
    • Barletta GM, Kovari IA, Verma RK, Kerjaschki D, Holzman LB. Nephrin and Neph1 co-localize at the podocyte foot process intercellular junction and form cis hetero-oligomers. J Biol Chem 2003; 278: 19266-19271
    • (2003) J Biol Chem , vol.278 , pp. 19266-19271
    • Barletta, G.M.1    Kovari, I.A.2    Verma, R.K.3    Kerjaschki, D.4    Holzman, L.B.5
  • 14
    • 0034948819 scopus 로고    scopus 로고
    • Proteinuria and perinatal lethality in mice lacking NEPH1, a novel protein with homology to NEPHRIN
    • Donoviel DB, Freed DD, Vogel H et al. Proteinuria and perinatal lethality in mice lacking NEPH1, a novel protein with homology to NEPHRIN. Mol Cell Biol 2001; 21: 4829-4836
    • (2001) Mol Cell Biol , vol.21 , pp. 4829-4836
    • Donoviel, D.B.1    Freed, D.D.2    Vogel, H.3
  • 15
    • 0035038042 scopus 로고    scopus 로고
    • Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome
    • Beltcheva O, Martin P, Lenkkeri U, Tryggvason K. Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. Hum Mutat 2001; 17: 368-373
    • (2001) Hum Mutat , vol.17 , pp. 368-373
    • Beltcheva, O.1    Martin, P.2    Lenkkeri, U.3    Tryggvason, K.4
  • 16
    • 3242795082 scopus 로고    scopus 로고
    • NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence
    • Weber S, Gribouval O, Esquivel EL et al. NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence. Kidney Int 2004; 66: 571-579
    • (2004) Kidney Int , vol.66 , pp. 571-579
    • Weber, S.1    Gribouval, O.2    Esquivel, E.L.3
  • 17
    • 10744226566 scopus 로고    scopus 로고
    • Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome
    • Ruf RG, Lichtenberger A, Karle SM et al. Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. J Am Soc Nephrol 2004; 15: 722-732
    • (2004) J Am Soc Nephrol , vol.15 , pp. 722-732
    • Ruf, R.G.1    Lichtenberger, A.2    Karle, S.M.3
  • 18
    • 0037407214 scopus 로고    scopus 로고
    • Broadening the spectrum of diseases related to podocin mutations
    • Caridi G, Bertelli R, Di Duca M et al. Broadening the spectrum of diseases related to podocin mutations. J Am Soc Nephrol 2003; 14: 1278-1286
    • (2003) J Am Soc Nephrol , vol.14 , pp. 1278-1286
    • Caridi, G.1    Bertelli, R.2    Di Duca, M.3
  • 19
    • 0033933128 scopus 로고    scopus 로고
    • Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type
    • Aya K, Tanaka H, Seino Y. Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type. Kidney Int 2000; 57: 401-404
    • (2000) Kidney Int , vol.57 , pp. 401-404
    • Aya, K.1    Tanaka, H.2    Seino, Y.3
  • 20
    • 20144386705 scopus 로고    scopus 로고
    • Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome
    • Sako M, Nakanishi K, Obana M et al. Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome. Kidney Int 2005; 67: 1248-1255
    • (2005) Kidney Int , vol.67 , pp. 1248-1255
    • Sako, M.1    Nakanishi, K.2    Obana, M.3
  • 21
    • 10744233544 scopus 로고    scopus 로고
    • NPHS2 mutations in sporadic steroid-resistant nephrotic syndrome in Japanese children
    • Maruyama K, Iijima K, Ikeda M et al. NPHS2 mutations in sporadic steroid-resistant nephrotic syndrome in Japanese children. Pediatr Nephrol 2003; 18: 412-416
    • (2003) Pediatr Nephrol , vol.18 , pp. 412-416
    • Maruyama, K.1    Iijima, K.2    Ikeda, M.3
  • 22
    • 0019767056 scopus 로고
    • Primary nephrotic syndrome in children: Clinical significance of histopathologic variants of minimal change, & of diffuse mesangial hypercellularity. A Report of the International Study of Kidney Disease in Children
    • Primary nephrotic syndrome in children: Clinical significance of histopathologic variants of minimal change, & of diffuse mesangial hypercellularity. A Report of the International Study of Kidney Disease in Children. Kidney Int 1981; 20: 765-771.
    • (1981) Kidney Int , vol.20 , pp. 765-771
  • 23
    • 0033849630 scopus 로고    scopus 로고
    • A locus for adolescent and adult onset familial focal segmental glomerulosclerosis on chromosome 1q25-31
    • Tsukaguchi H, Yager H, Dawborn J et al. A locus for adolescent and adult onset familial focal segmental glomerulosclerosis on chromosome 1q25-31. J Am Soc Nephrol 2000; 11: 1674-1680
    • (2000) J Am Soc Nephrol , vol.11 , pp. 1674-1680
    • Tsukaguchi, H.1    Yager, H.2    Dawborn, J.3
  • 24
    • 0028877463 scopus 로고
    • Genetic dissection of complex traits: Guidelines for interpreting and reporting linkage results
    • Lander E, Kruglyak L. Genetic dissection of complex traits: Guidelines for interpreting and reporting linkage results. Nat Genet 1995; 11: 241-247
    • (1995) Nat Genet , vol.11 , pp. 241-247
    • Lander, E.1    Kruglyak, L.2
  • 25
    • 0003408936 scopus 로고    scopus 로고
    • 3rd edn. The Johns Hopkins Hospital University Press, Baltimore and London
    • Ott J. Analysis of human genetic linkage, 3rd edn. The Johns Hopkins Hospital University Press, Baltimore and London: 1999
    • (1999) Analysis of Human Genetic Linkage
    • Ott, J.1
  • 26
    • 0037083989 scopus 로고    scopus 로고
    • Recurrence of nephrotic syndrome in kidney grafts of patients with congenital nephrotic syndrome of the Finnish type: Role of nephrin
    • Patrakka J, Ruotsalainen V, Reponen P et al. Recurrence of nephrotic syndrome in kidney grafts of patients with congenital nephrotic syndrome of the Finnish type: Role of nephrin. Transplantation 2002; 73: 394-403
    • (2002) Transplantation , vol.73 , pp. 394-403
    • Patrakka, J.1    Ruotsalainen, V.2    Reponen, P.3
  • 27
    • 12444328765 scopus 로고    scopus 로고
    • Recurrence of focal segmental glomerulosclerosis after renal transplantation in patients with mutations of podocin
    • Bertelli R, Ginevri F, Caridi G et al. Recurrence of focal segmental glomerulosclerosis after renal transplantation in patients with mutations of podocin. Am J Kidney Dis 2003; 41: 1314-1321
    • (2003) Am J Kidney Dis , vol.41 , pp. 1314-1321
    • Bertelli, R.1    Ginevri, F.2    Caridi, G.3
  • 28
    • 0034125964 scopus 로고    scopus 로고
    • Detection of the Finnish-type congenital nephrotic syndrome by restriction fragment length polymorphism and dual-color oligonucleotide ligation assays
    • Romppanen EL, Mononen I. Detection of the Finnish-type congenital nephrotic syndrome by restriction fragment length polymorphism and dual-color oligonucleotide ligation assays. Clin Chem 2000; 46: 811-816
    • (2000) Clin Chem , vol.46 , pp. 811-816
    • Romppanen, E.L.1    Mononen, I.2
  • 29
    • 0035199469 scopus 로고    scopus 로고
    • Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis
    • Caridi G, Bertelli R, Carrea A et al. Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis. J Am Soc Nephrol 2001; 12: 2742-2746
    • (2001) J Am Soc Nephrol , vol.12 , pp. 2742-2746
    • Caridi, G.1    Bertelli, R.2    Carrea, A.3
  • 30
    • 0036897388 scopus 로고    scopus 로고
    • NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele
    • Tsukaguchi H, Sudhakar A, Le TC et al. NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. J Clin Invest 2002; 110: 1659-1666
    • (2002) J Clin Invest , vol.110 , pp. 1659-1666
    • Tsukaguchi, H.1    Sudhakar, A.2    Le, T.C.3
  • 31
    • 0035097407 scopus 로고    scopus 로고
    • FAT is a component of glomerular slit diaphragms
    • Inoue T, Yaoita E, Kurihara H et al. FAT is a component of glomerular slit diaphragms. Kidney Int 2001; 59: 1003-1012
    • (2001) Kidney Int , vol.59 , pp. 1003-1012
    • Inoue, T.1    Yaoita, E.2    Kurihara, H.3
  • 32
    • 0032707163 scopus 로고    scopus 로고
    • Population choice in mapping genes for complex diseases
    • Wright AF, Carothers AD, Pirastu M. Population choice in mapping genes for complex diseases. Nat Genet 1999; 23: 397-404
    • (1999) Nat Genet , vol.23 , pp. 397-404
    • Wright, A.F.1    Carothers, A.D.2    Pirastu, M.3
  • 33
    • 0033927565 scopus 로고    scopus 로고
    • Fine localization of a major disease-susceptibility locus for diffuse panbronchiolitis
    • Keicho N, Ohashi J, Tamiya G et al. Fine localization of a major disease-susceptibility locus for diffuse panbronchiolitis. Am J Hum Genet 2000; 66: 501-507
    • (2000) Am J Hum Genet , vol.66 , pp. 501-507
    • Keicho, N.1    Ohashi, J.2    Tamiya, G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.