메뉴 건너뛰기




Volumn 27, Issue 7, 2016, Pages 1970-1983

Using population genetics to interrogate the monogenic nephrotic syndrome diagnosis in a case cohort

Author keywords

[No Author keywords available]

Indexed keywords

CALCINEURIN INHIBITOR; MYCOPHENOLATE MOFETIL; STEROID; TACROLIMUS;

EID: 85010846872     PISSN: 10466673     EISSN: 15333450     Source Type: Journal    
DOI: 10.1681/asn.2015050504     Document Type: Article
Times cited : (33)

References (78)
  • 1
    • 84880573499 scopus 로고    scopus 로고
    • New developments in steroid-resistant nephrotic syndrome
    • Saleem MA: New developments in steroid-resistant nephrotic syndrome. Pediatr Nephrol 28: 699–709, 2013
    • (2013) Pediatr Nephrol , vol.28 , pp. 699-709
    • Saleem, M.A.1
  • 8
    • 84870900036 scopus 로고    scopus 로고
    • Deleterious- And disease-allele prevalence in healthy individuals: Insights from current predictions, mutation databases, and population-scale resequencing
    • Xue Y, Chen Y, Ayub Q, Huang N, Ball EV, Mort M, Phillips AD, Shaw K, Stenson PD, Cooper DN, Tyler-Smith C; 1000 Genomes Project Consortium: Deleterious- and disease-allele prevalence in healthy individuals: Insights from current predictions, mutation databases, and population-scale resequencing. Am J Hum Genet 91: 1022–1032, 2012
    • (2012) Am J Hum Genet , vol.91 , pp. 1022-1032
    • Xue, Y.1    Chen, Y.2    Ayub, Q.3    Huang, N.4    Ball, E.V.5    Mort, M.6    Phillips, A.D.7    Shaw, K.8    Stenson, P.D.9    Cooper, D.N.10    Tyler-Smith, C.11
  • 12
    • 84924623150 scopus 로고    scopus 로고
    • Examining rare and low-frequency genetic variants previously associated with lone or familial forms of atrial fibrillation in an electronic medical record system: A cautionary note
    • Weeke P, Denny JC, Basterache L, Shaffer C, Bowton E, Ingram C, Darbar D, Roden DM: Examining rare and low-frequency genetic variants previously associated with lone or familial forms of atrial fibrillation in an electronic medical record system: A cautionary note. Circ Cardiovasc Genet 8: 58–63, 2015
    • (2015) Circ Cardiovasc Genet , vol.8 , pp. 58-63
    • Weeke, P.1    Denny, J.C.2    Basterache, L.3    Shaffer, C.4    Bowton, E.5    Ingram, C.6    Darbar, D.7    Roden, D.M.8
  • 16
    • 84937972042 scopus 로고    scopus 로고
    • Opportunities and challenges of genotyping patients with nephrotic syndrome in the genomic era
    • Sampson MG, Pollak MR: Opportunities and challenges of genotyping patients with nephrotic syndrome in the genomic era. Semin Nephrol 35: 212–221, 2015
    • (2015) Semin Nephrol , vol.35 , pp. 212-221
    • Sampson, M.G.1    Pollak, M.R.2
  • 21
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding nonsynonymous variants on protein function using the SIFT algorithm
    • Kumar P, Henikoff S, Ng PC: Predicting the effects of coding nonsynonymous variants on protein function using the SIFT algorithm. Nat Protoc 4: 1073–1081, 2009
    • (2009) Nat Protoc , vol.4 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 22
    • 77955151784 scopus 로고    scopus 로고
    • MutationTaster evaluates disease-causing potential of sequence alterations
    • Schwarz JM, Rödelsperger C, Schuelke M, Seelow D: MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 7: 575–576, 2010
    • (2010) Nat Methods , vol.7 , pp. 575-576
    • Schwarz, J.M.1    Rödelsperger, C.2    Schuelke, M.3    Seelow, D.4
  • 23
    • 84894094619 scopus 로고    scopus 로고
    • Gene-level integrated metric of negative selection (GIMS) prioritizes candidate genes for nephrotic syndrome
    • Sampson MG, Gillies CE, Ju W, Kretzler M, Kang HM: Gene-level integrated metric of negative selection (GIMS) prioritizes candidate genes for nephrotic syndrome. PLoS One 8: e81062, 2013
    • (2013) Plos One , vol.8
    • Sampson, M.G.1    Gillies, C.E.2    Ju, W.3    Kretzler, M.4    Kang, H.M.5
  • 25
    • 84873411608 scopus 로고    scopus 로고
    • Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis
    • Barua M, Brown EJ, Charoonratana VT, Genovese G, Sun H, Pollak MR: Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis. Kidney Int 83: 316–322, 2013
    • (2013) Kidney Int , vol.83 , pp. 316-322
    • Barua, M.1    Brown, E.J.2    Charoonratana, V.T.3    Genovese, G.4    Sun, H.5    Pollak, M.R.6
  • 39
  • 49
    • 34147096001 scopus 로고    scopus 로고
    • 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 für Paediatrische Nephrologie Study Group: 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 , pp. e907-e919
    • 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
  • 51
    • 0037132786 scopus 로고    scopus 로고
    • Penetrance of 845G–. A (C282Y) HFE hereditary haemochromatosis mutation in the USA
    • Beutler E, Felitti VJ, Koziol JA, Ho NJ, Gelbart T: Penetrance of 845G–. A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 359: 211–218, 2002
    • (2002) Lancet , vol.359 , pp. 211-218
    • Beutler, E.1    Felitti, V.J.2    Koziol, J.A.3    Ho, N.J.4    Gelbart, T.5
  • 55
    • 84860787585 scopus 로고    scopus 로고
    • Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients
    • Ovunc B, Ashraf S, Vega-Warner V, Bockenhauer D, Elshakhs NA, Joseph M, Hildebrandt F; Gesellschaft für Pädiatrische Nephrologie (GPN) Study Group: Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients. Nephron Clin Pract 120: c139–c146, 2012
    • (2012) Nephron Clin Pract , vol.120 , pp. c139-c146
    • Ovunc, B.1    Ashraf, S.2    Vega-Warner, V.3    Bockenhauer, D.4    Elshakhs, N.A.5    Joseph, M.6    Hildebrandt, F.7
  • 56
    • 84888198606 scopus 로고    scopus 로고
    • Congenital nephrotic syndrome with prolonged renal survival without renal replacement therapy
    • Wong W, Morris MC, Kara T: Congenital nephrotic syndrome with prolonged renal survival without renal replacement therapy. Pediatr Nephrol 28: 2313–2321, 2013
    • (2013) Pediatr Nephrol , vol.28 , pp. 2313-2321
    • Wong, W.1    Morris, M.C.2    Kara, T.3
  • 58
    • 77955012444 scopus 로고    scopus 로고
    • Hereditary nephrotic syndrome: A systematic approach for genetic testing and a review of associated podocyte gene mutations
    • Benoit G, Machuca E, Antignac C: Hereditary nephrotic syndrome: A systematic approach for genetic testing and a review of associated podocyte gene mutations. Pediatr Nephrol 25: 1621–1632, 2010
    • (2010) Pediatr Nephrol , vol.25 , pp. 1621-1632
    • Benoit, G.1    Machuca, E.2    Antignac, C.3
  • 60
  • 62
    • 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
  • 67
    • 85190334335 scopus 로고    scopus 로고
    • GeneVetter: A web tool for quantitative mongenic assessment of rare diseases
    • [published online ahead of print July 23, 2015] doi:btv432
    • Gillies CE, Robertson CC, Sampson MG, Kang H: GeneVetter: A web tool for quantitative mongenic assessment of rare diseases [published online ahead of print July 23, 2015]. Bioinformatics doi:btv432
    • Bioinformatics
    • Gillies, C.E.1    Robertson, C.C.2    Sampson, M.G.3    Kang, H.4
  • 71
    • 80255127234 scopus 로고    scopus 로고
    • Cutadapt removes adapter sequences from high-throughput sequencing reads
    • Martin M: Cutadapt removes adapter sequences from high-throughput sequencing reads. EMBnetjournal 17: 10–12, 2011
    • (2011) Embnetjournal , vol.17 , pp. 10-12
    • Martin, M.1
  • 72
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with Burrows-Wheeler transform
    • Li H, Durbin R: Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25: 1754–1760, 2009
    • (2009) Bioinformatics , vol.25 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 73
    • 34249753618 scopus 로고
    • Support-vectornetworks
    • Cortes C, Vapnik V: Support-vectornetworks. MachLearn 20: 273–297, 1995
    • (1995) Machlearn , vol.20 , pp. 273-297
    • Cortes, C.1    Vapnik, V.2
  • 75
    • 84862506964 scopus 로고    scopus 로고
    • A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3
    • Cingolani P, Platts A, Wang L, Coon M, Nguyen T, Wang L, Land SJ, Lu X, Ruden DM: A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3. Fly (Austin) 6: 80–92, 2012
    • (2012) Fly (austin , vol.6 , pp. 80-92
    • Cingolani, P.1    Platts, A.2    Wang, L.3    Coon, M.4    Nguyen, T.5    Wang, L.6    Land, S.J.7    Lu, X.8    Ruden, D.M.9
  • 76
    • 84881613239 scopus 로고    scopus 로고
    • DbNSFP v2.0: A database of human nonsynonymous SNVs and their functional predictions and annotations
    • Liu X, Jian X, Boerwinkle E: dbNSFP v2.0: A database of human nonsynonymous SNVs and their functional predictions and annotations. Hum Mutat 34: E2393–E2402, 2013
    • (2013) Hum Mutat , vol.34 , pp. E2393-E2402
    • Liu, X.1    Jian, X.2    Boerwinkle, E.3
  • 77
    • 84891837451 scopus 로고    scopus 로고
    • The Human Gene Mutation Database: Building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
    • Stenson PD, Mort M, Ball EV, Shaw K, Phillips A, Cooper DN: The Human Gene Mutation Database: Building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet 133: 1–9, 2014
    • (2014) Hum Genet , vol.133 , pp. 1-9
    • Stenson, P.D.1    Mort, M.2    Ball, E.V.3    Shaw, K.4    Phillips, A.5    Cooper, D.N.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.