{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T20:14:51Z","timestamp":1793736891860,"version":"4.6.1"},"reference-count":90,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2024,7,1]],"date-time":"2024-07-01T00:00:00Z","timestamp":1719792000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,7,1]],"date-time":"2024-07-01T00:00:00Z","timestamp":1719792000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["432980"],"award-info":[{"award-number":["432980"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["437528"],"award-info":[{"award-number":["437528"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009268","name":"Alport Syndrome Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009268","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100020262","name":"Postgraduate Institute for Medicine","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100020262","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012322","name":"Toronto East General Hospital Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012322","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Advances in Kidney Disease and Health"],"published-print":{"date-parts":[[2024,7]]},"DOI":"10.1053\/j.akdh.2024.04.001","type":"journal-article","created":{"date-parts":[[2024,7,29]],"date-time":"2024-07-29T09:05:13Z","timestamp":1722243913000},"page":"309-316","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":13,"title":["Genetic Causes of Nephrotic Syndrome and Focal and Segmental Glomerulosclerosis"],"prefix":"10.1053","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9747-244X","authenticated-orcid":false,"given":"Emine Bilge","family":"Caparali","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-5873-3919","authenticated-orcid":false,"given":"Vanessa","family":"De Gregorio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0628-9071","authenticated-orcid":false,"given":"Moumita","family":"Barua","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1053\/j.akdh.2024.04.001_bib1","series-title":"A History of Genetics","author":"Sturtevant","year":"2001"},{"issue":"1","key":"10.1053\/j.akdh.2024.04.001_bib2","doi-asserted-by":"crossref","DOI":"10.1002\/cpmb.59","article-title":"Overview of next-generation sequencing technologies","volume":"122","author":"Slatko","year":"2018","journal-title":"Curr Protoc Mol Biol"},{"issue":"6","key":"10.1053\/j.akdh.2024.04.001_bib3","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1038\/nrg.2016.49","article-title":"Coming of age: ten years of next-generation sequencing technologies","volume":"17","author":"Goodwin","year":"2016","journal-title":"Nat Rev Genet"},{"issue":"2","key":"10.1053\/j.akdh.2024.04.001_bib4","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1038\/jhg.2015.122","article-title":"Analysis of the genes responsible for steroid-resistant nephrotic syndrome and\/or focal segmental glomerulosclerosis in Japanese patients by whole-exome sequencing analysis","volume":"61","author":"Ogino","year":"2016","journal-title":"J Hum Genet"},{"issue":"9","key":"10.1053\/j.akdh.2024.04.001_bib5","doi-asserted-by":"crossref","first-page":"2342","DOI":"10.1016\/j.mayocp.2021.01.037","article-title":"Identification of genetic causes of focal segmental glomerulosclerosis increases with proper patient selection","volume":"96","author":"Miao","year":"2021","journal-title":"Mayo Clin Proc"},{"issue":"2","key":"10.1053\/j.akdh.2024.04.001_bib6","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1083\/jcb.60.2.423","article-title":"Porous substructure of the glomerular slit diaphragm IN the rat and mouse","volume":"60","author":"Rodewald","year":"1974","journal-title":"JCB (J Cell Biol)"},{"issue":"90006","key":"10.1053\/j.akdh.2024.04.001_bib7","doi-asserted-by":"crossref","first-page":"39vi","DOI":"10.1093\/ndt\/gfg1064","article-title":"The pathogenesis of \u201cclassic\u201d focal segmental glomerulosclerosis--lessons from rat models","volume":"18","author":"Kriz","year":"2003","journal-title":"Nephrol Dial Transplant"},{"issue":"1","key":"10.1053\/j.akdh.2024.04.001_bib8","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/s41572-020-0196-7","article-title":"Podocytopathies","volume":"6","author":"Kopp","year":"2020","journal-title":"Nat Rev Dis Primers"},{"issue":"6","key":"10.1053\/j.akdh.2024.04.001_bib9","doi-asserted-by":"crossref","first-page":"1221","DOI":"10.1016\/j.kint.2016.01.012","article-title":"Podocyte injury and its consequences","volume":"89","author":"Nagata","year":"2016","journal-title":"Kidney Int"},{"issue":"4","key":"10.1053\/j.akdh.2024.04.001_bib10","doi-asserted-by":"crossref","first-page":"F333","DOI":"10.1152\/ajprenal.00478.2012","article-title":"The podocyte\u2019s response to stress: the enigma of foot process effacement","volume":"304","author":"Kriz","year":"2013","journal-title":"Am J Physiol Ren Physiol"},{"key":"10.1053\/j.akdh.2024.04.001_bib11","doi-asserted-by":"crossref","DOI":"10.1016\/j.biopha.2022.113920","article-title":"Podocytopathy: the role of actin cytoskeleton","volume":"156","author":"Ahmadian","year":"2022","journal-title":"Biomed Pharmacother"},{"issue":"9","key":"10.1053\/j.akdh.2024.04.001_bib12","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1159\/000508099","article-title":"Focal segmental glomerulosclerosis: state-of-the-Art and clinical Perspective","volume":"144","author":"Shabaka","year":"2020","journal-title":"Nephron"},{"issue":"1","key":"10.1053\/j.akdh.2024.04.001_bib13","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1186\/s12882-015-0090-9","article-title":"Focal segmental glomerulosclerosis: molecular genetics and targeted therapies","volume":"16","author":"Chen","year":"2015","journal-title":"BMC Nephrol"},{"issue":"7265","key":"10.1053\/j.akdh.2024.04.001_bib14","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1038\/nature08494","article-title":"Finding the missing heritability of complex diseases","volume":"461","author":"Manolio","year":"2009","journal-title":"Nature"},{"key":"10.1053\/j.akdh.2024.04.001_bib15","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2020.00424","article-title":"From GWAS to function: using functional genomics to identify the mechanisms underlying complex diseases","volume":"11","author":"Cano-Gamez","year":"2020","journal-title":"Front Genet"},{"issue":"1","key":"10.1053\/j.akdh.2024.04.001_bib16","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1186\/s13073-020-00742-5","article-title":"Polygenic risk scores: from research tools to clinical instruments","volume":"12","author":"Lewis","year":"2020","journal-title":"Genome Med"},{"issue":"1","key":"10.1053\/j.akdh.2024.04.001_bib17","doi-asserted-by":"crossref","first-page":"2481","DOI":"10.1038\/s41467-023-37985-w","article-title":"Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome","volume":"14","author":"Barry","year":"2023","journal-title":"Nat Commun"},{"key":"10.1053\/j.akdh.2024.04.001_bib18","volume":"chapter 1","year":"2010"},{"issue":"2","key":"10.1053\/j.akdh.2024.04.001_bib19","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1056\/NEJMoa1806891","article-title":"Diagnostic Utility of exome sequencing for kidney disease","volume":"380","author":"Groopman","year":"2019","journal-title":"N Engl J Med"},{"issue":"2","key":"10.1053\/j.akdh.2024.04.001_bib20","doi-asserted-by":"crossref","first-page":"213","DOI":"10.2215\/CJN.08750718","article-title":"Integration of genetic testing and Pathology for the diagnosis of adults with FSGS","volume":"14","author":"Yao","year":"2019","journal-title":"Clin J Am Soc Nephrol"},{"issue":"6","key":"10.1053\/j.akdh.2024.04.001_bib21","doi-asserted-by":"crossref","first-page":"1279","DOI":"10.1681\/ASN.2014050489","article-title":"A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome","volume":"26","author":"Sadowski","year":"2015","journal-title":"J Am Soc Nephrol"},{"issue":"4","key":"10.1053\/j.akdh.2024.04.001_bib22","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1681\/ASN.0000000000000076","article-title":"A clinical Workflow for Cost-Saving high-rate diagnosis of genetic kidney diseases","volume":"34","author":"Becherucci","year":"2023","journal-title":"J Am Soc Nephrol"},{"issue":"5","key":"10.1053\/j.akdh.2024.04.001_bib23","doi-asserted-by":"crossref","first-page":"1308","DOI":"10.1016\/j.kint.2020.05.029","article-title":"Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome","volume":"98","author":"Jia","year":"2020","journal-title":"Kidney Int"},{"issue":"5","key":"10.1053\/j.akdh.2024.04.001_bib24","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1001\/archpedi.1957.02060040471001","article-title":"Studies on familial nephrosis. I. Clinical and pathologic study of four cases in a single family","volume":"93","author":"VERNIER","year":"1957","journal-title":"AMA J Dis Child"},{"issue":"5","key":"10.1053\/j.akdh.2024.04.001_bib25","first-page":"757","article-title":"Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19","volume":"54","author":"Kestil\u00e4","year":"1994","journal-title":"Am J Hum Genet"},{"issue":"4","key":"10.1053\/j.akdh.2024.04.001_bib26","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1016\/S1097-2765(00)80057-X","article-title":"Positionally Cloned gene for a novel glomerular protein\u2014nephrin\u2014is mutated in congenital nephrotic syndrome","volume":"1","author":"Kestil\u00e4","year":"1998","journal-title":"Mol Cell"},{"issue":"4","key":"10.1053\/j.akdh.2024.04.001_bib27","doi-asserted-by":"crossref","first-page":"1481","DOI":"10.1046\/j.1523-1755.1999.00719.x","article-title":"Nephrin localizes to the slit pore of the glomerular epithelial cell","volume":"56","author":"Holzman","year":"1999","journal-title":"Kidney Int"},{"issue":"3","key":"10.1053\/j.akdh.2024.04.001_bib28","doi-asserted-by":"crossref","first-page":"972","DOI":"10.1046\/j.1523-1755.2000.00254.x","article-title":"Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients","volume":"58","author":"Patrakka","year":"2000","journal-title":"Kidney Int"},{"issue":"10","key":"10.1053\/j.akdh.2024.04.001_bib29","doi-asserted-by":"crossref","first-page":"1871","DOI":"10.1681\/ASN.2008010059","article-title":"Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome","volume":"19","author":"Philippe","year":"2008","journal-title":"J Am Soc Nephrol"},{"issue":"12","key":"10.1053\/j.akdh.2024.04.001_bib30","doi-asserted-by":"crossref","first-page":"1268","DOI":"10.1038\/ki.2009.381","article-title":"Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis","volume":"76","author":"Sant\u00edn","year":"2009","journal-title":"Kidney Int"},{"issue":"4","key":"10.1053\/j.akdh.2024.04.001_bib31","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1038\/74166","article-title":"NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome","volume":"24","author":"Boute","year":"2000","journal-title":"Nat Genet"},{"issue":"11","key":"10.1053\/j.akdh.2024.04.001_bib32","doi-asserted-by":"crossref","first-page":"2155","DOI":"10.1093\/hmg\/4.11.2155","article-title":"Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis","volume":"4","author":"Fuchshuber","year":"1995","journal-title":"Hum Mol Genet"},{"issue":"21","key":"10.1053\/j.akdh.2024.04.001_bib33","doi-asserted-by":"crossref","first-page":"2625","DOI":"10.1093\/hmg\/ddh284","article-title":"Human laminin \u03b22 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities","volume":"13","author":"Zenker","year":"2004","journal-title":"Hum Mol Genet"},{"issue":"12","key":"10.1053\/j.akdh.2024.04.001_bib34","doi-asserted-by":"crossref","first-page":"1397","DOI":"10.1038\/ng1918","article-title":"Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible","volume":"38","author":"Hinkes","year":"2006","journal-title":"Nat Genet"},{"issue":"1","key":"10.1053\/j.akdh.2024.04.001_bib35","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.ajhg.2014.11.014","article-title":"Defects of CRB2 cause steroid-resistant nephrotic syndrome","volume":"96","author":"Ebarasi","year":"2015","journal-title":"Am J Hum Genet"},{"issue":"4","key":"10.1053\/j.akdh.2024.04.001_bib36","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1056\/NEJMoa1101273","article-title":"MYO1E mutations and childhood familial focal segmental glomerulosclerosis","volume":"365","author":"Mele","year":"2011","journal-title":"N Engl J Med"},{"issue":"5","key":"10.1053\/j.akdh.2024.04.001_bib37","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1136\/jmedgenet-2012-101442","article-title":"ARHGDIA: a novel gene implicated in nephrotic syndrome","volume":"50","author":"Gupta","year":"2013","journal-title":"J Med Genet"},{"issue":"1","key":"10.1053\/j.akdh.2024.04.001_bib38","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1186\/s12882-020-02038-7","article-title":"Early-onset COQ8B (ADCK4) glomerulopathy in a child with isolated proteinuria: a case report and literature review","volume":"21","author":"Zhai","year":"2020","journal-title":"BMC Nephrol"},{"issue":"5","key":"10.1053\/j.akdh.2024.04.001_bib39","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1203\/PDR.0b013e3181998a74","article-title":"SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndrome","volume":"65","author":"Zivicnjak","year":"2009","journal-title":"Pediatr Res"},{"issue":"3","key":"10.1053\/j.akdh.2024.04.001_bib40","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1016\/j.ajhg.2007.12.019","article-title":"Array-based gene discovery with three unrelated Subjects Shows SCARB2\/LIMP-2 deficiency causes Myoclonus Epilepsy and glomerulosclerosis","volume":"82","author":"Berkovic","year":"2008","journal-title":"Am J Hum Genet"},{"issue":"2","key":"10.1053\/j.akdh.2024.04.001_bib41","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1093\/ckj\/sfx143","article-title":"Clinical and pathological phenotype of genetic causes of focal segmental glomerulosclerosis in adults","volume":"11","author":"Lepori","year":"2018","journal-title":"Clin Kidney J"},{"issue":"2","key":"10.1053\/j.akdh.2024.04.001_bib42","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1046\/j.1523-1755.1998.00828.x","article-title":"A locus for inherited focal segmental glomerulosclerosis maps to chromosome 19q13","volume":"53","author":"Mathis","year":"1998","journal-title":"Kidney Int"},{"issue":"3","key":"10.1053\/j.akdh.2024.04.001_bib43","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1038\/73456","article-title":"Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis","volume":"24","author":"Kaplan","year":"2000","journal-title":"Nat Genet"},{"key":"10.1053\/j.akdh.2024.04.001_bib44","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1155\/2011\/563128","article-title":"Podocyte injury associated with mutant \u03b1 -Actinin-4","volume":"2011","author":"Cybulsky","year":"2011","journal-title":"J Signal Transduct"},{"issue":"5729","key":"10.1053\/j.akdh.2024.04.001_bib45","doi-asserted-by":"crossref","first-page":"1801","DOI":"10.1126\/science.1106215","article-title":"A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis","volume":"308","author":"Winn","year":"2005","journal-title":"Science"},{"issue":"7","key":"10.1053\/j.akdh.2024.04.001_bib46","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1038\/ng1592","article-title":"TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function","volume":"37","author":"Reiser","year":"2005","journal-title":"Nat Genet"},{"issue":"1","key":"10.1053\/j.akdh.2024.04.001_bib47","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1038\/ng.505","article-title":"Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis","volume":"42","author":"Brown","year":"2010","journal-title":"Nat Genet"},{"issue":"25","key":"10.1053\/j.akdh.2024.04.001_bib48","doi-asserted-by":"crossref","first-page":"2377","DOI":"10.1056\/NEJMoa1109122","article-title":"INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy","volume":"365","author":"Boyer","year":"2011","journal-title":"N Engl J Med"},{"issue":"6","key":"10.1053\/j.akdh.2024.04.001_bib49","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1681\/ASN.2012080834","article-title":"Inverted formin 2 regulates actin dynamics by antagonizing Rho\/diaphanous-related formin signaling","volume":"24","author":"Sun","year":"2013","journal-title":"J Am Soc Nephrol"},{"key":"10.1053\/j.akdh.2024.04.001_bib50","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1146\/annurev.biochem.75.103004.142647","article-title":"Mechanism and function of formins in the control of actin assembly","volume":"76","author":"Goode","year":"2007","journal-title":"Annu Rev Biochem"},{"issue":"8","key":"10.1053\/j.akdh.2024.04.001_bib51","doi-asserted-by":"crossref","first-page":"2110","DOI":"10.1681\/ASN.2017121338","article-title":"The human FSGS-causing ANLN R431C mutation Induces Dysregulated PI3K\/AKT\/mTOR\/Rac1 signaling in podocytes","volume":"29","author":"Hall","year":"2018","journal-title":"J Am Soc Nephrol"},{"issue":"10","key":"10.1053\/j.akdh.2024.04.001_bib52","doi-asserted-by":"crossref","first-page":"4127","DOI":"10.1172\/JCI46458","article-title":"Arhgap24 inactivates Rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomerulosclerosis","volume":"121","author":"Akilesh","year":"2011","journal-title":"J Clin Invest"},{"issue":"3","key":"10.1053\/j.akdh.2024.04.001_bib53","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1093\/ndt\/gfy028","article-title":"Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome","volume":"34","author":"Braun","year":"2019","journal-title":"Nephrol Dial Transplant"},{"issue":"8","key":"10.1053\/j.akdh.2024.04.001_bib54","doi-asserted-by":"crossref","first-page":"1216","DOI":"10.1681\/ASN.2013020171","article-title":"LMX1B mutations cause Hereditary FSGS without Extrarenal involvement","volume":"24","author":"Boyer","year":"2013","journal-title":"J Am Soc Nephrol"},{"issue":"11","key":"10.1053\/j.akdh.2024.04.001_bib55","doi-asserted-by":"crossref","first-page":"3004","DOI":"10.1681\/ASN.2007040444","article-title":"COL4A3\/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy","volume":"18","author":"Voskarides","year":"2007","journal-title":"J Am Soc Nephrol"},{"issue":"9","key":"10.1053\/j.akdh.2024.04.001_bib56","doi-asserted-by":"crossref","first-page":"2721","DOI":"10.1093\/ndt\/gfp158","volume":"24","author":"Pierides","year":"2009","journal-title":"Nephrol Dial Transplant"},{"issue":"6","key":"10.1053\/j.akdh.2024.04.001_bib57","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1093\/jmcb\/mju040","article-title":"COL4A3 mutations cause focal segmental glomerulosclerosis","volume":"6","author":"Xie","year":"2014","journal-title":"J Mol Cell Biol"},{"issue":"6","key":"10.1053\/j.akdh.2024.04.001_bib58","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1093\/ndt\/gfv325","article-title":"Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis","volume":"31","author":"Gast","year":"2016","journal-title":"Nephrol Dial Transplant"},{"issue":"5","key":"10.1053\/j.akdh.2024.04.001_bib59","doi-asserted-by":"crossref","first-page":"672","DOI":"10.2215\/CJN.13711021","article-title":"GWAS of hematuria","volume":"17","author":"Gagliano Taliun","year":"2022","journal-title":"Clin J Am Soc Nephrol"},{"issue":"7","key":"10.1053\/j.akdh.2024.04.001_bib60","doi-asserted-by":"crossref","first-page":"1701","DOI":"10.1681\/ASN.2014030247","article-title":"HLA-DQA1 and PLCG2 are Candidate risk loci for childhood-onset steroid-sensitive nephrotic syndrome","volume":"26","author":"Gbadegesin","year":"2015","journal-title":"J Am Soc Nephrol"},{"issue":"8","key":"10.1053\/j.akdh.2024.04.001_bib61","doi-asserted-by":"crossref","first-page":"2189","DOI":"10.1681\/ASN.2017080859","article-title":"Strong association of the HLA-DR\/DQ locus with childhood steroid-sensitive nephrotic syndrome in the Japanese population","volume":"29","author":"Jia","year":"2018","journal-title":"J Am Soc Nephrol"},{"issue":"7","key":"10.1053\/j.akdh.2024.04.001_bib62","doi-asserted-by":"crossref","first-page":"2000","DOI":"10.1681\/ASN.2017111185","article-title":"Transethnic, genome-wide analysis reveals immune-related risk alleles and phenotypic Correlates in pediatric steroid-sensitive nephrotic syndrome","volume":"29","author":"Debiec","year":"2018","journal-title":"J Am Soc Nephrol"},{"issue":"8","key":"10.1053\/j.akdh.2024.04.001_bib63","doi-asserted-by":"crossref","first-page":"1375","DOI":"10.1681\/ASN.2018101054","article-title":"Genetic Identification of two novel loci associated with steroid-sensitive nephrotic syndrome","volume":"30","author":"Dufek","year":"2019","journal-title":"J Am Soc Nephrol"},{"issue":"2","key":"10.1053\/j.akdh.2024.04.001_bib64","doi-asserted-by":"crossref","first-page":"294","DOI":"10.2215\/CJN.15161219","article-title":"APOL1 nephropathy: from genetics to clinical Applications","volume":"16","author":"Friedman","year":"2021","journal-title":"Clin J Am Soc Nephrol"},{"issue":"6","key":"10.1053\/j.akdh.2024.04.001_bib65","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1016\/j.semnephrol.2017.07.007","article-title":"The cell Biology of APOL1","volume":"37","author":"O\u2019Toole","year":"2017","journal-title":"Semin Nephrol"},{"key":"10.1053\/j.akdh.2024.04.001_bib66","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1146\/annurev-physiol-021119-034345","article-title":"APOL1 and kidney disease: from genetics to Biology","volume":"82","author":"Friedman","year":"2020","journal-title":"Annu Rev Physiol"},{"issue":"3","key":"10.1053\/j.akdh.2024.04.001_bib67","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1016\/j.semnephrol.2015.04.008","article-title":"APOL1 kidney disease risk variants: an evolving Landscape","volume":"35","author":"Dummer","year":"2015","journal-title":"Semin Nephrol"},{"issue":"5","key":"10.1053\/j.akdh.2024.04.001_bib68","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1038\/s41581-022-00538-3","article-title":"The evolving story of apolipoprotein L1 nephropathy: the end of the beginning","volume":"18","author":"Daneshpajouhnejad","year":"2022","journal-title":"Nat Rev Nephrol"},{"issue":"5993","key":"10.1053\/j.akdh.2024.04.001_bib69","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1126\/science.1193032","article-title":"Association of trypanolytic ApoL1 variants with kidney disease in African Americans","volume":"329","author":"Genovese","year":"2010","journal-title":"Science"},{"issue":"3","key":"10.1053\/j.akdh.2024.04.001_bib70","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1007\/s00439-010-0861-0","article-title":"Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene","volume":"128","author":"Tzur","year":"2010","journal-title":"Hum Genet"},{"issue":"11","key":"10.1053\/j.akdh.2024.04.001_bib71","doi-asserted-by":"crossref","first-page":"2129","DOI":"10.1681\/ASN.2011040388","article-title":"APOL1 genetic variants in focal segmental glomerulosclerosis and HIV-associated nephropathy","volume":"22","author":"Kopp","year":"2011","journal-title":"J Am Soc Nephrol"},{"issue":"11","key":"10.1053\/j.akdh.2024.04.001_bib72","doi-asserted-by":"crossref","first-page":"2882","DOI":"10.1681\/ASN.2014050469","article-title":"APOL1 risk variants are strongly associated with HIV-associated nephropathy in Black South Africans","volume":"26","author":"Kasembeli","year":"2015","journal-title":"J Am Soc Nephrol"},{"issue":"11","key":"10.1053\/j.akdh.2024.04.001_bib73","doi-asserted-by":"crossref","first-page":"1889","DOI":"10.1681\/ASN.0000000000000219","article-title":"Genetic inhibition of APOL1 pore-forming function Prevents APOL1-mediated kidney disease","volume":"34","author":"Hung","year":"2023","journal-title":"J Am Soc Nephrol"},{"issue":"1","key":"10.1053\/j.akdh.2024.04.001_bib74","doi-asserted-by":"crossref","first-page":"7836","DOI":"10.1038\/s41467-023-43020-9","article-title":"Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease","volume":"14","author":"Gupta","year":"2023","journal-title":"Nat Commun"},{"issue":"2","key":"10.1053\/j.akdh.2024.04.001_bib75","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1093\/ndt\/gfab218","article-title":"Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice","volume":"37","author":"Knoers","year":"2022","journal-title":"Nephrol Dial Transplant"},{"issue":"1S","key":"10.1053\/j.akdh.2024.04.001_bib76","doi-asserted-by":"crossref","first-page":"S128","DOI":"10.1097\/01.tp.0000187110.25512.82","article-title":"Recurrence of focal-segmental glomerulosclerosis in children after renal transplantation: clinical and genetic Aspects","volume":"80","author":"Weber","year":"2005","journal-title":"Transplantation"},{"issue":"1","key":"10.1053\/j.akdh.2024.04.001_bib77","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1186\/1471-2369-14-47","article-title":"A retrospective study of focal segmental glomerulosclerosis: clinical criteria can identify patients at high risk for recurrent disease after first renal transplantation","volume":"14","author":"Maas","year":"2013","journal-title":"BMC Nephrol"},{"issue":"2","key":"10.1053\/j.akdh.2024.04.001_bib78","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1111\/j.1523-1755.2004.00428.x","article-title":"Retransplantation in Alport post-transplant anti-GBM disease","volume":"65","author":"Browne","year":"2004","journal-title":"Kidney Int"},{"issue":"6","key":"10.1053\/j.akdh.2024.04.001_bib79","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1111\/j.1399-3046.2006.00528.x","article-title":"Renal transplantation in patients with Alport syndrome","volume":"10","author":"Kashtan","year":"2006","journal-title":"Pediatr Transplant"},{"issue":"25","key":"10.1053\/j.akdh.2024.04.001_bib80","doi-asserted-by":"crossref","first-page":"2543","DOI":"10.1056\/NEJMra022296","article-title":"Alport\u2019s syndrome, Goodpasture\u2019s syndrome, and type IV collagen","volume":"348","author":"Hudson","year":"2003","journal-title":"N Engl J Med"},{"issue":"7","key":"10.1053\/j.akdh.2024.04.001_bib81","doi-asserted-by":"crossref","first-page":"1924","DOI":"10.1111\/j.1600-6143.2012.04033.x","article-title":"The APOL1 genotype of African American kidney transplant recipients does not impact 5-year allograft survival","volume":"12","author":"Lee","year":"2012","journal-title":"Am J Transplant"},{"issue":"6","key":"10.1053\/j.akdh.2024.04.001_bib82","doi-asserted-by":"crossref","first-page":"1615","DOI":"10.1111\/ajt.13223","article-title":"Apolipoprotein L1 gene variants in deceased organ donors are associated with renal allograft failure","volume":"15","author":"Freedman","year":"2015","journal-title":"Am J Transplant"},{"issue":"1","key":"10.1053\/j.akdh.2024.04.001_bib83","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1097\/TP.0000000000000969","article-title":"APOL1 genotype and kidney transplantation outcomes from deceased African American donors","volume":"100","author":"Freedman","year":"2016","journal-title":"Transplantation"},{"issue":"5","key":"10.1053\/j.akdh.2024.04.001_bib84","doi-asserted-by":"crossref","first-page":"1025","DOI":"10.1111\/j.1600-6143.2011.03513.x","article-title":"The APOL1 gene and allograft survival after kidney transplantation","volume":"11","author":"Reeves-Daniel","year":"2011","journal-title":"Am J Transplant"},{"issue":"12","key":"10.1053\/j.akdh.2024.04.001_bib85","doi-asserted-by":"crossref","first-page":"5179","DOI":"10.1172\/JCI69000","article-title":"ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption","volume":"123","author":"Ashraf","year":"2013","journal-title":"J Clin Invest"},{"issue":"26","key":"10.1053\/j.akdh.2024.04.001_bib86","doi-asserted-by":"crossref","first-page":"2849","DOI":"10.1056\/NEJMc0800582","article-title":"Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency","volume":"358","author":"Montini","year":"2008","journal-title":"N Engl J Med"},{"issue":"47","key":"10.1053\/j.akdh.2024.04.001_bib87","doi-asserted-by":"crossref","DOI":"10.1097\/MD.0000000000008880","article-title":"Coenzyme Q10 supplementation therapy for 2 children with proteinuria renal disease and ADCK4 mutation","volume":"96","author":"Feng","year":"2017","journal-title":"Medicine"},{"issue":"8","key":"10.1053\/j.akdh.2024.04.001_bib88","doi-asserted-by":"crossref","first-page":"1369","DOI":"10.1007\/s00467-017-3634-3","article-title":"Follow-up results of patients with ADCK4 mutations and the efficacy of CoQ10 treatment","volume":"32","author":"Atmaca","year":"2017","journal-title":"Pediatr Nephrol"},{"issue":"1","key":"10.1053\/j.akdh.2024.04.001_bib89","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1681\/ASN.2014121240","article-title":"ADCK4-Associated glomerulopathy causes Adolescence-onset FSGS","volume":"27","author":"Korkmaz","year":"2016","journal-title":"J Am Soc Nephrol"},{"issue":"11","key":"10.1053\/j.akdh.2024.04.001_bib90","doi-asserted-by":"crossref","first-page":"969","DOI":"10.1056\/NEJMoa2202396","article-title":"Inaxaplin for Proteinuric kidney disease in persons with two APOL1 variants","volume":"388","author":"Egbuna","year":"2023","journal-title":"N Engl J Med"}],"container-title":["Advances in Kidney Disease and Health"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2949813924000715?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2949813924000715?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,10,10]],"date-time":"2024-10-10T06:46:10Z","timestamp":1728542770000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2949813924000715"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7]]},"references-count":90,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2024,7]]}},"alternative-id":["S2949813924000715"],"URL":"https:\/\/doi.org\/10.1053\/j.akdh.2024.04.001","relation":{},"ISSN":["2949-8139"],"issn-type":[{"value":"2949-8139","type":"print"}],"subject":[],"published":{"date-parts":[[2024,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genetic Causes of Nephrotic Syndrome and Focal and Segmental Glomerulosclerosis","name":"articletitle","label":"Article Title"},{"value":"Advances in Kidney Disease and Health","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1053\/j.akdh.2024.04.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 by the National Kidney Foundation, Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}]}}