메뉴 건너뛰기




Volumn 31, Issue 11, 2016, Pages 1802-1813

Genetic testing in steroid-resistant nephrotic syndrome: When and how?

Author keywords

clinical genetic testing; molecular genetics; monogenic disease; pathogenesis of nephrotic syndrome; steroidresistant nephrotic syndrome (SRNS)

Indexed keywords

UBIDECARENONE; GENETIC MARKER;

EID: 84996590429     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfv355     Document Type: Review
Times cited : (166)

References (77)
  • 1
    • 34250006557 scopus 로고    scopus 로고
    • The spectrum of podocytopathies: A unifying view of glomerular diseases
    • Wiggins RC. The spectrum of podocytopathies: a unifying view of glomerular diseases. Kidney Int 2007; 71: 1205-1214
    • (2007) Kidney Int , vol.71 , pp. 1205-1214
    • Wiggins, R.C.1
  • 2
    • 77950462459 scopus 로고    scopus 로고
    • Genetic kidney diseases
    • Hildebrandt F. Genetic kidney diseases. Lancet 2010; 375: 1287-1295
    • (2010) Lancet , vol.375 , pp. 1287-1295
    • Hildebrandt, F.1
  • 3
    • 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 2010; 25: 1621-1632
    • (2010) Pediatr Nephrol , vol.25 , pp. 1621-1632
    • Benoit, G.1    Machuca, E.2    Antignac, C.3
  • 5
    • 34247554345 scopus 로고    scopus 로고
    • Contributions of the transplant registry: The 2006 Annual Report of the North American Pediatric Renal Trials and Collaborative Studies (NAPRTCS)
    • Smith JM, Stablein DM, Munoz R et al. Contributions of the transplant registry: the 2006 Annual Report of the North American Pediatric Renal Trials and Collaborative Studies (NAPRTCS). Pediatr Transplant 2007; 11: 366-373
    • (2007) Pediatr Transplant , vol.11 , pp. 366-373
    • Smith, J.M.1    Stablein, D.M.2    Munoz, R.3
  • 6
    • 78650390559 scopus 로고    scopus 로고
    • Hereditary kidney diseases: Highlighting the importance of classical Mendelian phenotypes
    • Benoit G, Machuca E, Heidet L et al. Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes. Ann N Y Acad Sci 2010; 1214: 83-98
    • (2010) Ann N y Acad Sci , vol.1214 , pp. 83-98
    • Benoit, G.1    Machuca, E.2    Heidet, L.3
  • 7
    • 84890038202 scopus 로고    scopus 로고
    • ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption
    • Ashraf S, Gee HY, Woerner S et al. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. J Clin Invest 2013; 123: 5179-5189
    • (2013) J Clin Invest , vol.123 , pp. 5179-5189
    • Ashraf, S.1    Gee, H.Y.2    Woerner, S.3
  • 8
    • 84878851636 scopus 로고    scopus 로고
    • ARHGDIA: A novel gene implicated in nephrotic syndrome
    • Gupta IR, Baldwin C, Auguste D et al. ARHGDIA: a novel gene implicated in nephrotic syndrome. J Med Genet 2013; 50: 330-338
    • (2013) J Med Genet , vol.50 , pp. 330-338
    • Gupta, I.R.1    Baldwin, C.2    Auguste, D.3
  • 9
    • 35848933493 scopus 로고    scopus 로고
    • Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation
    • Lowik MM, Groenen PJ, Pronk I et al. Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation. Kidney Int 2007; 72: 1198-1203
    • (2007) Kidney Int , vol.72 , pp. 1198-1203
    • Lowik, M.M.1    Groenen, P.J.2    Pronk, I.3
  • 10
    • 84863981321 scopus 로고    scopus 로고
    • Secondary focal and segmental glomerulosclerosis associated with single-nucleotide polymorphisms in the genes encoding complement factorHand C3
    • Sethi S, Fervenza FC, Zhang Y et al. Secondary focal and segmental glomerulosclerosis associated with single-nucleotide polymorphisms in the genes encoding complement factorHand C3.AmJ Kidney Dis 2012; 60: 316-321
    • (2012) AmJ Kidney Dis , vol.60 , pp. 316-321
    • Sethi, S.1    Fervenza, F.C.2    Zhang, Y.3
  • 11
    • 34250668197 scopus 로고    scopus 로고
    • COQ2 nephropathy: A newly described inherited mitochondriopathy with primary renal involvement
    • Diomedi-Camassei F, Di Giandomenico S, Santorelli FM et al. COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement. J Am Soc Nephrol 2007; 18: 2773-2780
    • (2007) J Am Soc Nephrol , vol.18 , pp. 2773-2780
    • Diomedi-Camassei, F.1    Di Giandomenico, S.2    Santorelli, F.M.3
  • 12
    • 79955520308 scopus 로고    scopus 로고
    • COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness
    • Heeringa SF, Chernin G, ChakiMet al. COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. J Clin Invest 2011; 121: 2013-2024
    • (2011) J Clin Invest , vol.121 , pp. 2013-2024
    • Heeringa, S.F.1    Chernin, G.2    Chaki, M.3
  • 13
    • 84920736253 scopus 로고    scopus 로고
    • Defects of CRB2 cause steroid-resistant nephrotic syndrome
    • Ebarasi L, Ashraf S, Bierzynska A et al. Defects of CRB2 cause steroid-resistant nephrotic syndrome. Am J Hum Genet 2015; 96: 153-161
    • (2015) Am J Hum Genet , vol.96 , pp. 153-161
    • Ebarasi, L.1    Ashraf, S.2    Bierzynska, A.3
  • 14
    • 80053546629 scopus 로고    scopus 로고
    • Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria
    • Ovunc B, Otto EA, Vega-Warner V et al. Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria. J Am Soc Nephrol 2011; 22: 1815-1820
    • (2011) J Am Soc Nephrol , vol.22 , pp. 1815-1820
    • Ovunc, B.1    Otto, E.A.2    Vega-Warner, V.3
  • 15
    • 84874633763 scopus 로고    scopus 로고
    • DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN
    • Ozaltin F, Li B, Rauhauser A et al. DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN. J Am Soc Nephrol 2013; 24: 377-384
    • (2013) J Am Soc Nephrol , vol.24 , pp. 377-384
    • Ozaltin, F.1    Li, B.2    Rauhauser, A.3
  • 16
    • 84902284568 scopus 로고    scopus 로고
    • Mutations in EMP2 cause childhood-onset nephrotic syndrome
    • Gee HY, Ashraf S,Wan X et al. Mutations in EMP2 cause childhood-onset nephrotic syndrome. Am J Hum Genet 2014; 94: 884-890
    • (2014) Am J Hum Genet , vol.94 , pp. 884-890
    • Gee, H.Y.1    Ashraf, S.2    Wan, X.3
  • 17
    • 84859826518 scopus 로고    scopus 로고
    • Integrin alpha3 mutations with kidney, lung, and skin disease
    • Has C, Sparta G, Kiritsi D et al. Integrin alpha3 mutations with kidney, lung, and skin disease. N Engl J Med 2012; 366: 1508-1514
    • (2012) N Engl J Med , vol.366 , pp. 1508-1514
    • Has, C.1    Sparta, G.2    Kiritsi, D.3
  • 18
    • 0033918269 scopus 로고    scopus 로고
    • Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa
    • Kambham N, Tanji N, Seigle RL et al. Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa. Am J Kidney Dis 2000; 36: 190-196
    • (2000) Am J Kidney Dis , vol.36 , pp. 190-196
    • Kambham, N.1    Tanji, N.2    Seigle, R.L.3
  • 19
    • 84930404195 scopus 로고    scopus 로고
    • KANK deficiency leads to podocyte dysfunction and nephrotic syndrome
    • Gee HY, Zhang F, Ashraf S et al. KANK deficiency leads to podocyte dysfunction and nephrotic syndrome. J Clin Invest 2015; 125: 2375-2384
    • (2015) J Clin Invest , vol.125 , pp. 2375-2384
    • Gee, H.Y.1    Zhang, F.2    Ashraf, S.3
  • 20
    • 8444221929 scopus 로고    scopus 로고
    • Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities
    • Zenker M, Aigner T, Wendler O et al. Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. Hum Mol Genet 2004; 13: 2625-2632
    • (2004) Hum Mol Genet , vol.13 , pp. 2625-2632
    • Zenker, M.1    Aigner, T.2    Wendler, O.3
  • 21
    • 0034635519 scopus 로고    scopus 로고
    • Modification defect at anticodon wobble nucleotide of mitochondrial tRNAs(Leu)(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
    • Yasukawa T, Suzuki T, Ueda T et al. Modification defect at anticodon wobble nucleotide of mitochondrial tRNAs(Leu)(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. J Biol Chem 2000; 275: 4251-4257
    • (2000) J Biol Chem , vol.275 , pp. 4251-4257
    • Yasukawa, T.1    Suzuki, T.2    Ueda, T.3
  • 22
    • 79960877647 scopus 로고    scopus 로고
    • MYO1E mutations and childhood familial focal segmental glomerulosclerosis
    • Mele C, Iatropoulos P, Donadelli R et al. MYO1E mutations and childhood familial focal segmental glomerulosclerosis.NEngl JMed 2011; 365: 295-306
    • (2011) NEngl JMed , vol.365 , pp. 295-306
    • Mele, C.1    Iatropoulos, P.2    Donadelli, R.3
  • 23
    • 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
  • 24
    • 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
  • 25
    • 84952719536 scopus 로고    scopus 로고
    • Biallelic mutations in nuclear pore complex subunit NUP107 cause early-childhood-onset steroid-resistant nephrotic syndrome
    • Miyake N, Tsukaguchi H, Koshimizu E et al. Biallelic mutations in nuclear pore complex subunit NUP107 cause early-childhood-onset steroid-resistant nephrotic syndrome. Am J Hum Genet. 2015; 97: 555-566
    • (2015) Am J Hum Genet , vol.97 , pp. 555-566
    • Miyake, N.1    Tsukaguchi, H.2    Koshimizu, E.3
  • 26
    • 33845232634 scopus 로고    scopus 로고
    • Leigh syndromewith nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations
    • Lopez LC, SchuelkeM,QuinziiCMet al. Leigh syndromewith nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. Am J Hum Genet 2006; 79: 1125-1129
    • (2006) Am J Hum Genet , vol.79 , pp. 1125-1129
    • Lopez, L.C.1    Schuelke, M.2    Quinzii, C.M.3
  • 27
    • 33751531864 scopus 로고    scopus 로고
    • Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible
    • Hinkes B,Wiggins RC, Gbadegesin R et al. Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nat Genet 2006; 38: 1397-1405
    • (2006) Nat Genet , vol.38 , pp. 1397-1405
    • Hinkes, B.1    Wiggins, R.C.2    Gbadegesin, R.3
  • 28
    • 80051544854 scopus 로고    scopus 로고
    • Disruption of PTPRO causes childhood-onset nephrotic syndrome
    • Ozaltin F, Ibsirlioglu T, Taskiran EZ et al. Disruption of PTPRO causes childhood-onset nephrotic syndrome. Am J Hum Genet 2011; 89: 139-147
    • (2011) Am J Hum Genet , vol.89 , pp. 139-147
    • Ozaltin, F.1    Ibsirlioglu, T.2    Taskiran, E.Z.3
  • 29
    • 40849144062 scopus 로고    scopus 로고
    • Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis
    • Berkovic SF, Dibbens LM, Oshlack A et al. Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. Am J Hum Genet 2008; 82: 673-684
    • (2008) Am J Hum Genet , vol.82 , pp. 673-684
    • Berkovic, S.F.1    Dibbens, L.M.2    Oshlack, A.3
  • 30
    • 18544381908 scopus 로고    scopus 로고
    • Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia
    • Boerkoel CF, Takashima H, John J et al. Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nat Genet 2002; 30: 215-220
    • (2002) Nat Genet , vol.30 , pp. 215-220
    • Boerkoel, C.F.1    Takashima, H.2    John, J.3
  • 31
    • 84919642714 scopus 로고    scopus 로고
    • Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome
    • Colin E, Huynh Cong E, Mollet G et al. Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome. AmJ Hum Genet 2014; 95: 637-648
    • (2014) AmJ Hum Genet , vol.95 , pp. 637-648
    • Colin, E.1    Huynh, C.E.2    Mollet, G.3
  • 32
    • 84944172123 scopus 로고    scopus 로고
    • WDR73 mutations cause infantile neurodegeneration and variable glomerular kidney disease
    • Vodopiutz J, Seidl R, Prayer D et al. WDR73 mutations cause infantile neurodegeneration and variable glomerular kidney disease. Hum Mutat 2015; 36: 1021-1028
    • (2015) Hum Mutat , vol.36 , pp. 1021-1028
    • Vodopiutz, J.1    Seidl, R.2    Prayer, D.3
  • 33
    • 84940068672 scopus 로고    scopus 로고
    • Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73
    • Jinks RN, Puffenberger EG, Baple E et al. Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. Brain : a journal of neurology 2015; 138: 2173-2190
    • (2015) Brain : A Journal of Neurology , vol.138 , pp. 2173-2190
    • Jinks, R.N.1    Puffenberger, E.G.2    Baple, E.3
  • 34
    • 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
  • 35
    • 84920173095 scopus 로고    scopus 로고
    • Mutations in the gene that encodes the F-actin binding protein anillin cause FSGS
    • Gbadegesin RA, Hall G, Adeyemo A et al. Mutations in the gene that encodes the F-actin binding protein anillin cause FSGS. J Am Soc Nephrol 2014; 25: 1991-2002
    • (2014) J Am Soc Nephrol , vol.25 , pp. 1991-2002
    • Gbadegesin, R.A.1    Hall, G.2    Adeyemo, A.3
  • 36
    • 80053410497 scopus 로고    scopus 로고
    • Arhgap24 inactivates Rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomerulosclerosis
    • Akilesh S, Suleiman H, Yu H et al. Arhgap24 inactivates Rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomerulosclerosis. J Clin Invest 2011; 121: 4127-4137
    • (2011) J Clin Invest , vol.121 , pp. 4127-4137
    • Akilesh, S.1    Suleiman, H.2    Yu, H.3
  • 37
    • 73349132341 scopus 로고    scopus 로고
    • Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis
    • Brown EJ, Schlondorff JS, Becker DJ et al. Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. Nat Genet 2010; 42: 72-76
    • (2010) Nat Genet , vol.42 , pp. 72-76
    • Brown, E.J.1    Schlondorff, J.S.2    Becker, D.J.3
  • 38
    • 0031750061 scopus 로고    scopus 로고
    • Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome
    • Vollrath D, Jaramillo-Babb VL, Clough MV et al. Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome. Hum Mol Genet 1998; 7: 1091-1098
    • (1998) Hum Mol Genet , vol.7 , pp. 1091-1098
    • Vollrath, D.1    Jaramillo-Babb, V.L.2    Clough, M.V.3
  • 39
    • 0032471924 scopus 로고    scopus 로고
    • Mutation analysis of LMX1B gene in nail-patella syndrome patients
    • McIntosh I, Dreyer SD, CloughMVet al. Mutation analysis of LMX1B gene in nail-patella syndrome patients. Am J Hum Genet 1998; 63: 1651-1658
    • (1998) Am J Hum Genet , vol.63 , pp. 1651-1658
    • McIntosh, I.1    Dreyer, S.D.2    Clough, M.V.3
  • 40
    • 0034755959 scopus 로고    scopus 로고
    • Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes
    • Heath KE, Campos-Barros A, Toren A et al. Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. Am J Hum Genet 2001; 69: 1033-1045
    • (2001) Am J Hum Genet , vol.69 , pp. 1033-1045
    • Heath, K.E.1    Campos-Barros, A.2    Toren, A.3
  • 41
    • 20844461826 scopus 로고    scopus 로고
    • A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis
    • WinnMP, 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
  • 42
    • 17344364993 scopus 로고    scopus 로고
    • Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database
    • Jeanpierre C, Denamur E, Henry I et al. Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database. Am J Hum Genet 1998; 62: 824-833
    • (1998) Am J Hum Genet , vol.62 , pp. 824-833
    • Jeanpierre, C.1    Denamur, E.2    Henry, I.3
  • 43
    • 68949213587 scopus 로고    scopus 로고
    • Genetics of nephrotic syndrome: New insights into molecules acting at the glomerular filtration barrier
    • Zenker M, Machuca E, Antignac C. Genetics of nephrotic syndrome: new insights into molecules acting at the glomerular filtration barrier. J Mol Med 2009; 87: 849-857
    • (2009) J Mol Med , vol.87 , pp. 849-857
    • Zenker, M.1    Machuca, E.2    Antignac, C.3
  • 44
    • 0034126357 scopus 로고    scopus 로고
    • Getting a foothold in nephrotic syndrome
    • Somlo S, Mundel P. Getting a foothold in nephrotic syndrome. Nat Genet 2000; 24: 333-335
    • (2000) Nat Genet , vol.24 , pp. 333-335
    • Somlo, S.1    Mundel, P.2
  • 45
    • 0035720564 scopus 로고    scopus 로고
    • Podocyte depletion and glomerulosclerosis have a direct relationship in the PAN-treated rat
    • Kim YH, Goyal M, Kurnit D et al. Podocyte depletion and glomerulosclerosis have a direct relationship in the PAN-treated rat. Kidney Int 2001; 60: 957-968
    • (2001) Kidney Int , vol.60 , pp. 957-968
    • Kim, Y.H.1    Goyal, M.2    Kurnit, D.3
  • 46
    • 29144490392 scopus 로고    scopus 로고
    • Podocyte depletion causes glomerulosclerosis: Diphtheria toxin-induced podocyte depletion in rats expressing human diphtheria toxin receptor transgene
    • Wharram BL, Goyal M, Wiggins JE et al. Podocyte depletion causes glomerulosclerosis: diphtheria toxin-induced podocyte depletion in rats expressing human diphtheria toxin receptor transgene. J Am Soc Nephrol 2005; 16: 2941-2952
    • (2005) J Am Soc Nephrol , vol.16 , pp. 2941-2952
    • Wharram, B.L.1    Goyal, M.2    Wiggins, J.E.3
  • 47
    • 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 et al. 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 2007; 119: e907-e919
    • (2007) Pediatrics , vol.119 , pp. e907-e919
    • Hinkes, B.G.1    Mucha, B.2    Vlangos, C.N.3
  • 48
    • 84919714615 scopus 로고    scopus 로고
    • Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome
    • Lovric S, Fang H, Vega-Warner V et al. Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol 2014; 9: 1109-1116
    • (2014) Clin J Am Soc Nephrol , vol.9 , pp. 1109-1116
    • Lovric, S.1    Fang, H.2    Vega-Warner, V.3
  • 49
    • 84930436697 scopus 로고    scopus 로고
    • A single-gene cause in 29 5%of cases of steroid-resistant nephrotic syndrome
    • Sadowski CE, Lovric S,Ashraf S et al. A single-gene cause in 29.5%of cases of steroid-resistant nephrotic syndrome. JAmSocNephrol 2014; 26: 1279-1289
    • (2014) JAmSocNephrol , vol.26 , pp. 1279-1289
    • Sadowski, C.E.1    Lovric, S.2    Ashraf, S.3
  • 50
    • 84924030069 scopus 로고    scopus 로고
    • Fourteenmonogenic genes account for 15%of nephrolithiasis/nephrocalcinosis
    • Halbritter J, BaumM,HynesAMet al. Fourteenmonogenic genes account for 15%of nephrolithiasis/nephrocalcinosis. JAmSocNephrol 2015; 26: 543-551
    • (2015) JAmSocNephrol , vol.26 , pp. 543-551
    • Halbritter, J.1    Baum, M.2    Hynes, A.M.3
  • 51
    • 84872018952 scopus 로고    scopus 로고
    • High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing
    • Halbritter J, Diaz K, Chaki M et al. High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing. J Med Genet 2012; 49: 756-767
    • (2012) J Med Genet , vol.49 , pp. 756-767
    • Halbritter, J.1    Diaz, K.2    Chaki, M.3
  • 52
    • 84924131555 scopus 로고    scopus 로고
    • Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression
    • Giglio S, Provenzano A, Mazzinghi B et al. Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression. J Am Soc Nephrol 2015; 26: 230-236
    • (2015) J Am Soc Nephrol , vol.26 , pp. 230-236
    • Giglio, S.1    Provenzano, A.2    Mazzinghi, B.3
  • 53
    • 84926611766 scopus 로고    scopus 로고
    • Spectrum of steroid-resistant and congenital nephrotic syndrome in children: The Podonet Registry Cohort
    • Trautmann A, Bodria M, Ozaltin F et al. Spectrum of steroid-resistant and congenital nephrotic syndrome in children: The Podonet Registry Cohort. Clin J Am Soc Nephrol 2015; 10: 592-600
    • (2015) Clin J Am Soc Nephrol , vol.10 , pp. 592-600
    • Trautmann, A.1    Bodria, M.2    Ozaltin, F.3
  • 54
    • 84879689746 scopus 로고    scopus 로고
    • Genetic screening in adolescents with steroid-resistant nephrotic syndrome
    • Lipska BS, Iatropoulos P, Maranta R et al. Genetic screening in adolescents with steroid-resistant nephrotic syndrome. Kidney Int 2013; 84: 206-213
    • (2013) Kidney Int , vol.84 , pp. 206-213
    • Lipska, B.S.1    Iatropoulos, P.2    Maranta, R.3
  • 55
    • 3242795082 scopus 로고    scopus 로고
    • NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low posttransplant recurrence
    • Weber S, Gribouval O, Esquivel EL et al. NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low posttransplant 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
  • 56
    • 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
  • 57
    • 85017049440 scopus 로고    scopus 로고
    • Loss of epithelial membrane protein 2 aggravates podocyte injury via upregulation of caveolin-1
    • Wan X, Chen Z, Choi WI et al. Loss of epithelial membrane protein 2 aggravates podocyte injury via upregulation of caveolin-1. J Am Soc Nephrol 2015; 27: doi: 10.1681/ASN.2014121197
    • (2015) J Am Soc Nephrol , vol.27
    • Wan, X.1    Chen, Z.2    Choi, W.I.3
  • 58
    • 62349086524 scopus 로고    scopus 로고
    • Specific podocin mutations determine age of onset of nephrotic syndrome all the way into adult life
    • Hildebrandt F, Heeringa SF. Specific podocin mutations determine age of onset of nephrotic syndrome all the way into adult life. Kidney Int 2009; 75: 669-671
    • (2009) Kidney Int , vol.75 , pp. 669-671
    • Hildebrandt, F.1    Heeringa, S.F.2
  • 59
    • 39049163551 scopus 로고    scopus 로고
    • Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome
    • Hinkes B, Vlangos C, Heeringa S et al. Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome. J Am Soc Nephrol 2008; 19: 365-371
    • (2008) J Am Soc Nephrol , vol.19 , pp. 365-371
    • Hinkes, B.1    Vlangos, C.2    Heeringa, S.3
  • 60
    • 84895887522 scopus 로고    scopus 로고
    • Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome
    • Tory K, Menyhard DK, Woerner S et al. Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome. Nat Genet 2014; 46: 299-304
    • (2014) Nat Genet , vol.46 , pp. 299-304
    • Tory, K.1    Menyhard, D.K.2    Woerner, S.3
  • 61
    • 77957315050 scopus 로고    scopus 로고
    • Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations
    • Chernin G, Vega-Warner V, Schoeb DS et al. Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations. Clin J Am Soc Nephrol 2010; 5: 1655-1662
    • (2010) Clin J Am Soc Nephrol , vol.5 , pp. 1655-1662
    • Chernin, G.1    Vega-Warner, V.2    Schoeb, D.S.3
  • 62
    • 33748438381 scopus 로고    scopus 로고
    • Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders
    • Hasselbacher K,Wiggins RC, Matejas Vet al. Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. Kidney Int 2006; 70: 1008-1012
    • (2006) Kidney Int , vol.70 , pp. 1008-1012
    • Hasselbacher, K.1    Wiggins, R.C.2    Matejas, V.3
  • 63
    • 84855171766 scopus 로고    scopus 로고
    • INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy
    • Boyer O, Nevo F, Plaisier E et al. INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy. N Engl J Med 2011; 365: 2377-2388
    • (2011) N Engl J Med , vol.365 , pp. 2377-2388
    • Boyer, O.1    Nevo, F.2    Plaisier, E.3
  • 64
    • 84881097084 scopus 로고    scopus 로고
    • LMX1B mutations cause hereditary FSGS without extrarenal involvement
    • Boyer O,Woerner S, Yang F et al. LMX1B mutations cause hereditary FSGS without extrarenal involvement. J Am Soc Nephrol 2013; 24: 1216-1222
    • (2013) J Am Soc Nephrol , vol.24 , pp. 1216-1222
    • Boyer, O.1    Woerner, S.2    Yang, F.3
  • 65
    • 45949099527 scopus 로고    scopus 로고
    • Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency
    • Montini G,Malaventura C, Salviati L. Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency. N Engl J Med 2008; 358: 2849-2850
    • (2008) N Engl J Med , vol.358 , pp. 2849-2850
    • Montini, G.1    Malaventura, C.2    Salviati, L.3
  • 66
    • 84881245920 scopus 로고    scopus 로고
    • ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling
    • Gee HY, Saisawat P, Ashraf S et al. ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling. J Clin Invest 2013; 123: 3243-3253
    • (2013) J Clin Invest , vol.123 , pp. 3243-3253
    • Gee, H.Y.1    Saisawat, P.2    Ashraf, S.3
  • 67
    • 65249099647 scopus 로고    scopus 로고
    • TRPC6 mutations associated with focal segmental glomerulosclerosis cause constitutive activation of NFATdependent transcription
    • Schlondorff J,Del Camino D, Carrasquillo Ret al. TRPC6 mutations associated with focal segmental glomerulosclerosis cause constitutive activation of NFATdependent transcription. Am J Physiol Cell Physiol 2009; 296: C558-C569
    • (2009) Am J Physiol Cell Physiol , vol.296 , pp. C558-C569
    • Schlondorff, J.1    Del Camino, D.2    Carrasquillo, R.3
  • 68
    • 84880916379 scopus 로고    scopus 로고
    • Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy
    • Halbritter J, Porath JD, Diaz KA et al. Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. Hum Genet 2013; 132: 865-884
    • (2013) Hum Genet , vol.132 , pp. 865-884
    • Halbritter, J.1    Porath, J.D.2    Diaz, K.A.3
  • 69
    • 79952198057 scopus 로고    scopus 로고
    • Exome sequencing: The sweet spot before whole genomes
    • Teer JK, Mullikin JC. Exome sequencing: the sweet spot before whole genomes. Hum Mol Genet 2010; 19: R145-R151
    • (2010) Hum Mol Genet , vol.19 , pp. R145-R151
    • Teer, J.K.1    Mullikin, J.C.2
  • 70
    • 70249111091 scopus 로고    scopus 로고
    • Targeted capture and massively parallel sequencing of 12 human exomes
    • Ng SB, Turner EH, Robertson PD et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature 2009; 461: 272-276
    • (2009) Nature , vol.461 , pp. 272-276
    • Ng, S.B.1    Turner, E.H.2    Robertson, P.D.3
  • 71
    • 77950507176 scopus 로고    scopus 로고
    • Individual genomes on the horizon
    • Lifton RP. Individual genomes on the horizon. N Engl J Med 2010; 362: 1235-1236
    • (2010) N Engl J Med , vol.362 , pp. 1235-1236
    • Lifton, R.P.1
  • 72
    • 77957557692 scopus 로고    scopus 로고
    • Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
    • Otto EA, Hurd TW, Airik R et al. Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet 2010; 42: 840-850
    • (2010) Nat Genet , vol.42 , pp. 840-850
    • Otto, E.A.1    Hurd, T.W.2    Airik, R.3
  • 73
    • 84885785987 scopus 로고    scopus 로고
    • Clinical whole-exome sequencing for the diagnosis of mendelian disorders
    • Yang Y, Muzny DM, Reid JG et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med 2013; 369: 1502-1511
    • (2013) N Engl J Med , vol.369 , pp. 1502-1511
    • Yang, Y.1    Muzny, D.M.2    Reid, J.G.3
  • 74
    • 59249092391 scopus 로고    scopus 로고
    • A systematic approach to mapping recessive disease genes in individuals from outbred populations
    • Hildebrandt F, Heeringa SF, Ruschendorf F et al. A systematic approach to mapping recessive disease genes in individuals from outbred populations. PLoS Genet 2009; 5: e1000353
    • (2009) PLoS Genet , vol.5 , pp. e1000353
    • Hildebrandt, F.1    Heeringa, S.F.2    Ruschendorf, F.3
  • 75
    • 84918840439 scopus 로고    scopus 로고
    • Clinical exome sequencing for genetic identification of rare Mendelian disorders
    • Lee H, Deignan JL, Dorrani N et al. Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA 2014; 312: 1880-1887
    • (2014) JAMA , vol.312 , pp. 1880-1887
    • Lee, H.1    Deignan, J.L.2    Dorrani, N.3
  • 76
    • 84899476119 scopus 로고    scopus 로고
    • Guidelines for investigating causality of sequence variants in human disease
    • MacArthur DG, Manolio TA, Dimmock DP et al. Guidelines for investigating causality of sequence variants in human disease. Nature 2014; 508: 469-476
    • (2014) Nature , vol.508 , pp. 469-476
    • MacArthur, D.G.1    Manolio, T.A.2    Dimmock, D.P.3
  • 77
    • 84863116742 scopus 로고    scopus 로고
    • A systematic survey of loss-of-function variants in human protein-coding genes
    • MacArthur DG, Balasubramanian S, Frankish A et al. A systematic survey of loss-of-function variants in human protein-coding genes. Science 2012; 335: 823-828
    • (2012) Science , vol.335 , pp. 823-828
    • MacArthur, D.G.1    Balasubramanian, S.2    Frankish, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.