메뉴 건너뛰기




Volumn 61, Issue 1, 2007, Pages 117-122

NPHS1 and NPHS2 gene mutations in chinese children with sporadic nephrotic syndrome

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; DNA; NEPHRIN; PODOCIN; STEROID; MEMBRANE PROTEIN; SIGNAL PEPTIDE;

EID: 33846975812     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/01.pdr.0000250041.19306.3d     Document Type: Article
Times cited : (33)

References (25)
  • 1
    • 84990888215 scopus 로고    scopus 로고
    • Hodson EM, Habashy D, Craig JC 2006 Interventions for idiopathic steroid-resistant nephrotic syndrome in children. Cochrane Database Syst Rev Apr 19(2):CD003594.
    • Hodson EM, , Habashy D, Craig JC 2006 Interventions for idiopathic steroid-resistant nephrotic syndrome in children. Cochrane Database Syst Rev Apr 19(2):CD003594.
  • 9
    • 2342631919 scopus 로고    scopus 로고
    • Nephrin gene (NPHS1) in patients with minimal change nephrotic syndrome (MCNS)
    • Lahdenkari AT, Kestila M, Holmberg C, Koskimies O, Jalanko H 2004 Nephrin gene (NPHS1) in patients with minimal change nephrotic syndrome (MCNS). Kidney Int 65:1856-1863
    • (2004) Kidney Int , vol.65 , pp. 1856-1863
    • Lahdenkari, A.T.1    Kestila, M.2    Holmberg, C.3    Koskimies, O.4    Jalanko, H.5
  • 10
    • 0035038042 scopus 로고    scopus 로고
    • Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome
    • Beltcheva O, Martin P, Lenkkeri U, Tryggvason K 2001 Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. Hum Mutat 17:368-373
    • (2001) Hum Mutat , vol.17 , pp. 368-373
    • Beltcheva, O.1    Martin, P.2    Lenkkeri, U.3    Tryggvason, K.4
  • 11
    • 0037084569 scopus 로고    scopus 로고
    • Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration
    • Koziell A, Grech V, Hussain S, Lee G, Lenkkeri U, Tryggvason K, Scambler P 2002 Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. Hum Mol Genet 11:379-388
    • (2002) Hum Mol Genet , vol.11 , pp. 379-388
    • Koziell, A.1    Grech, V.2    Hussain, S.3    Lee, G.4    Lenkkeri, U.5    Tryggvason, K.6    Scambler, P.7
  • 12
    • 0036151614 scopus 로고    scopus 로고
    • Novel mutations in NPHS2 detected in both familial and sporadic steroid- resistant nephrotic syndrome
    • Karle SM, Uetz B, Ronner V, Glaeser L, Hildebrandt F, Fuchshuber A 2002 Novel mutations in NPHS2 detected in both familial and sporadic steroid- resistant nephrotic syndrome. J Am Soc Nephrol 13:388-393
    • (2002) J Am Soc Nephrol , vol.13 , pp. 388-393
    • Karle, S.M.1    Uetz, B.2    Ronner, V.3    Glaeser, L.4    Hildebrandt, F.5    Fuchshuber, A.6
  • 14
    • 0036158076 scopus 로고    scopus 로고
    • Not all in the family: Mutations of podocin in sporadic steroid-resistant nephrotic syndrome
    • Winn MP 2002 Not all in the family: mutations of podocin in sporadic steroid-resistant nephrotic syndrome. J Am Soc Nephrol 13:577-579
    • (2002) J Am Soc Nephrol , vol.13 , pp. 577-579
    • Winn, M.P.1
  • 15
  • 19
    • 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, Moriniere V, Tete MJ, Legendre C, Niaudet P, Antignac C 2004 NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence. Kidney Int 66:571-579
    • (2004) Kidney Int , vol.66 , pp. 571-579
    • Weber, S.1    Gribouval, O.2    Esquivel, E.L.3    Moriniere, V.4    Tete, M.J.5    Legendre, C.6    Niaudet, P.7    Antignac, C.8
  • 20
    • 85190659233 scopus 로고    scopus 로고
    • Ruf RG, Lichtenberger A, Karle SM, Haas JP, Anacleto FE, Schultheiss M, Zalewski I Imm A, Ruf EM, Mucha B, Bagga A, Neuhaus T, Fuchshuber A, Bakkaloglu A, Hildebrandt F Arbeitsgemeinschaft Fur Padiatrische Nephrologie Study Group 2004 Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. J Am Soc Nephrol 15:722-732.
    • Ruf RG, Lichtenberger A, Karle SM, Haas JP, Anacleto FE, Schultheiss M, Zalewski I Imm A, Ruf EM, Mucha B, Bagga A, Neuhaus T, Fuchshuber A, Bakkaloglu A, Hildebrandt F Arbeitsgemeinschaft Fur Padiatrische Nephrologie Study Group 2004 Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. J Am Soc Nephrol 15:722-732.
  • 22
    • 4644353639 scopus 로고    scopus 로고
    • Heterozygous NPHS1 or NPHS2 mutations in responsive nephrotic syndrome and the multifactorial origin of proteinuria
    • Caridi G, Bertelli R, Perfumo F, Ghiggeri GM 2004 Heterozygous NPHS1 or NPHS2 mutations in responsive nephrotic syndrome and the multifactorial origin of proteinuria. Kidney Int 66:1715-1716
    • (2004) Kidney Int , vol.66 , pp. 1715-1716
    • Caridi, G.1    Bertelli, R.2    Perfumo, F.3    Ghiggeri, G.M.4
  • 24
    • 0034605653 scopus 로고    scopus 로고
    • Single gene disorders or complex traits: Lessons from the thalassaemias and other monogenic diseases
    • Weatherall DJ 2000 Single gene disorders or complex traits: lessons from the thalassaemias and other monogenic diseases. BMJ 321:1117-1120
    • (2000) BMJ , vol.321 , pp. 1117-1120
    • Weatherall, D.J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.