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Volumn 75, Issue 2, 2008, Pages 135-138

NPHS2 mutations

Author keywords

Egyptian children; Nephrotic syndrome; Non familial; NPHS2 mutations; Steroid resistant

Indexed keywords

ARTICLE; CHILD; CLINICAL ARTICLE; CONGENITAL NEPHROTIC SYNDROME; CONTROLLED STUDY; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; MISSENSE MUTATION; NPHS2 GENE; PHENOTYPE; POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM; BLOOD; CROSS-SECTIONAL STUDY; EGYPT; FRAMESHIFT MUTATION; GENETIC MARKER; GENETICS; INFANT; MUTATION; NEPHROTIC SYNDROME; PRESCHOOL CHILD; PREVALENCE; PROGNOSIS;

EID: 44649117979     PISSN: 00195456     EISSN: None     Source Type: Journal    
DOI: 10.1007/s12098-008-0020-y     Document Type: Article
Times cited : (7)

References (10)
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    • NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome
    • Boute N, Gribouval O, Roselli S, Benessy F, Lee H, Fuchshuber A 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    Benessy, F.4    Lee, H.5    Fuchshuber, A.6
  • 3
    • 3242795082 scopus 로고    scopus 로고
    • NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant NS and low post-transplant recurrence
    • Weber S, Gridouval O, Esquivel EL, Moriniere V, Tete MJ, Legendre C et al. NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant NS and low post-transplant recurrence. Kidney Int 2004; 66: 571-579.
    • (2004) Kidney Int , vol.66 , pp. 571-579
    • Weber, S.1    Gridouval, O.2    Esquivel, E.L.3    Moriniere, V.4    Tete, M.J.5    Legendre, C.6
  • 4
    • 33746145940 scopus 로고    scopus 로고
    • Analysis of NPHS2 mutations in Turkish steroid-resistant nephrotic syndrome patients
    • Özçakar ZB, Acar B, Yüksel, Ekim M, Yalçinkaya F. Analysis of NPHS2 mutations in Turkish steroid-resistant nephrotic syndrome patients. Pediatr Nephrol 2006; 21: 1093-1096.
    • (2006) Pediatr Nephrol , vol.21 , pp. 1093-1096
    • Özçakar, Z.B.1    Acar, B.2    Yüksel3    Ekim, M.4    Yalçinkaya, F.5
  • 5
    • 0036007347 scopus 로고    scopus 로고
    • Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children
    • Frishberg Y, Rinat C, Megged O, Shapira E, Feinstein S, Raas-Rothschild A. Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children. J Am Soc Nephrol 2002; 13: 400-405.
    • (2002) J Am Soc Nephrol , vol.13 , pp. 400-405
    • Frishberg, Y.1    Rinat, C.2    Megged, O.3    Shapira, E.4    Feinstein, S.5    Raas-Rothschild, A.6
  • 6
    • 0025835296 scopus 로고
    • Fast and sensitive silver staining of DNA in polyacrylamide gels
    • Bassam BJ, Caetano-Anolles G, Gresshoff PM. Fast and sensitive silver staining of DNA in polyacrylamide gels. Anal Biochem 1991; 196: 80-83.
    • (1991) Anal Biochem , vol.196 , pp. 80-83
    • Bassam, B.J.1    Caetano-Anolles, G.2    Gresshoff, P.M.3
  • 7
    • 0035210324 scopus 로고    scopus 로고
    • Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin
    • Schwarz K, Simons M, Reiser J, Saleem MA, Faul C, Kriz W et al. Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin. J Clin Invest 2001; 08: 1621-1629.
    • (2001) J Clin Invest , vol.8 , pp. 1621-1629
    • Schwarz, K.1    Simons, M.2    Reiser, J.3    Saleem, M.A.4    Faul, C.5    Kriz, W.6
  • 9
    • 45749158157 scopus 로고    scopus 로고
    • The characteristics of focal segmental glomerulosclerosis in Egyptian children: Single centre study (abstract)
    • El-Refaey A, Bakr A, Sarhan A, Hammad A, Ragab M, ElMogy A. The characteristics of focal segmental glomerulosclerosis in Egyptian children: Single centre study (abstract). Pediatr Nephrol 2006; 21: 1616.
    • (2006) Pediatr Nephrol , vol.21 , pp. 1616
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  • 10
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    • NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms
    • Caridi G, Perfumo F, Ghiggeri GM. NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms. Pediatr Research 2005; 57: 54R-61R.
    • (2005) Pediatr Research , vol.57
    • Caridi, G.1    Perfumo, F.2    Ghiggeri, G.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.