메뉴 건너뛰기




Volumn 8, Issue 4, 2013, Pages 637-648

Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 4; NEPHRIN; PHOSPHOLIPASE C; PODOCIN; UBIQUINONE; WT1 PROTEIN;

EID: 84876040962     PISSN: 15559041     EISSN: 1555905X     Source Type: Journal    
DOI: 10.2215/CJN.07200712     Document Type: Article
Times cited : (153)

References (31)
  • 1
    • 80052468931 scopus 로고    scopus 로고
    • UK Renal Registry 13th Annual Report (December 2010): Chapter 5: Demography of the UK paediatric renal replacement therapy population in 2009
    • Sinha MD, Castledine C, van Schalkwyk D, Hussain F, Lewis M, Inward C: UK Renal Registry 13th Annual Report (December 2010): Chapter 5: Demography of the UK paediatric renal replacement therapy population in 2009. Nephron Clin Pract 119 [Suppl 2]: c97-c106, 2011
    • (2011) Nephron Clin Pract , vol.119 , Issue.SUPPL 2
    • Sinha, M.D.1    Castledine, C.2    van Schalkwyk, D.3    Hussain, F.4    Lewis, M.5    Inward, C.6
  • 2
    • 84861139244 scopus 로고    scopus 로고
    • Genetic causes of focal segmental glomerulosclerosis: Implications for clinical practice
    • Rood IM, Deegens JK, Wetzels JF: Genetic causes of focal segmental glomerulosclerosis: Implications for clinical practice. Nephrol Dial Transplant 27: 882-890, 2012
    • (2012) Nephrol Dial Transplant , vol.27 , pp. 882-890
    • Rood, I.M.1    Deegens, J.K.2    Wetzels, J.F.3
  • 5
    • 0036713510 scopus 로고    scopus 로고
    • Human non-synonymous SNPs: Server and survey
    • Ramensky V, Bork P, Sunyaev S: Human non-synonymous SNPs: Server and survey. Nucleic Acids Res 30: 3894-3900, 2002
    • (2002) Nucleic Acids Res , vol.30 , pp. 3894-3900
    • Ramensky, V.1    Bork, P.2    Sunyaev, S.3
  • 6
    • 79952764520 scopus 로고    scopus 로고
    • Performance of mutation pathogenicity prediction methods on missense variants
    • Thusberg J, Olatubosun A, Vihinen M: Performance of mutation pathogenicity prediction methods on missense variants. Hum Mutat 32: 358-368, 2011
    • (2011) Hum Mutat , vol.32 , pp. 358-368
    • Thusberg, J.1    Olatubosun, A.2    Vihinen, M.3
  • 7
    • 77955405475 scopus 로고    scopus 로고
    • Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
    • Laren W, Pritchard B, Rios D, Chen Y, Flicek P, Cunningham F: Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor. Bioinformatics 26: 2069-2070, 2010
    • (2010) Bioinformatics , vol.26 , pp. 2069-2070
    • Laren, W.1    Pritchard, B.2    Rios, D.3    Chen, Y.4    Flicek, P.5    Cunningham, F.6
  • 10
    • 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: 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
    • (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
  • 11
    • 2342631919 scopus 로고    scopus 로고
    • Nephrin gene (NPHS1) in patients with minimal change nephrotic syndrome (MCNS)
    • Lahdenkari AT, Kestilä M, Holmberg C, Koskimies O, Jalanko H: Nephrin gene (NPHS1) in patients with minimal change nephrotic syndrome (MCNS). Kidney Int 65: 1856-1863, 2004
    • (2004) Kidney Int , vol.65 , pp. 1856-1863
    • Lahdenkari, A.T.1    Kestilä, M.2    Holmberg, C.3    Koskimies, O.4    Jalanko, H.5
  • 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: Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. J Am Soc Nephrol 13: 388-393, 2002
    • (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
  • 15
    • 34147096001 scopus 로고    scopus 로고
    • Arbeitsgemeinschaft fü r Paediatrische Nephrologie StudyGroup: Nephrotic syndrome in the first year of life: Two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2)
    • Hinkes BG, Mucha B, Vlangos CN, Gbadegesin R, Liu J, Hasselbacher K, Hangan D, Ozaltin F, Zenker M, Hildebrandt F; Arbeitsgemeinschaft fü r Paediatrische Nephrologie StudyGroup: Nephrotic syndrome in the first year of life: Two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). Pediatrics 119: e907-e919, 2007
    • (2007) Pediatrics , vol.119
    • Hinkes, B.G.1    Mucha, B.2    Vlangos, C.N.3    Gbadegesin, R.4    Liu, J.5    Hasselbacher, K.6    Hangan, D.7    Ozaltin, F.8    Zenker, M.9    Hildebrandt, F.10
  • 18
    • 0036777420 scopus 로고    scopus 로고
    • Three novel COL4A4 mutations resulting in stop codons and their clinical effects in autosomal recessive Alport syndrome
    • Dagher H, Yan Wang Y, Fassett R, Savige J: Three novel COL4A4 mutations resulting in stop codons and their clinical effects in autosomal recessive Alport syndrome. HumMutat 20: 321-322, 2002
    • (2002) HumMutat , vol.20 , pp. 321-322
    • Dagher, H.1    Yan, W.Y.2    Fassett, R.3    Savige, J.4
  • 21
    • 33748745132 scopus 로고    scopus 로고
    • INF2 is a WASP homology 2motif-containing formin that severs actin filaments and accelerates both polymerization and depolymerization
    • Chhabra ES, Higgs HN: INF2 is a WASP homology 2motif-containing formin that severs actin filaments and accelerates both polymerization and depolymerization. J Biol Chem 281: 26754-26767, 2006
    • (2006) J Biol Chem , vol.281 , pp. 26754-26767
    • Chhabra, E.S.1    Higgs, H.N.2
  • 22
    • 79961172239 scopus 로고    scopus 로고
    • Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): Expression analysis of PMM2-CDG mutations
    • Vega AI, Pérez-Cerdá C, Abia D, Gámez A, Briones P, Artuch R, Desviat LR, Ugarte M, Pérez B: Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): Expression analysis of PMM2-CDG mutations. J Inherit Metab Dis 34: 929-939, 2011
    • (2011) J Inherit Metab Dis , vol.34 , pp. 929-939
    • Vega, A.I.1    Pérez-Cerdá, C.2    Abia, D.3    Gámez, A.4    Briones, P.5    Artuch, R.6    Desviat, L.R.7    Ugarte, M.8    Pérez, B.9
  • 26
    • 51449100567 scopus 로고    scopus 로고
    • Vertical transmission of amutation in exon 1 of the WT1 gene: Lessons for genetic counseling
    • Regev M, Kirk R, Mashevich M, Bistritzer Z, Reish O: Vertical transmission of amutation in exon 1 of the WT1 gene: Lessons for genetic counseling. Am J Med Genet A 146A: 2332-2336, 2008
    • (2008) Am J Med Genet A , vol.146 A , pp. 2332-2336
    • Regev, M.1    Kirk, R.2    Mashevich, M.3    Bistritzer, Z.4    Reish, O.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.