{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,20]],"date-time":"2026-06-20T23:24:50Z","timestamp":1781997890300,"version":"3.54.5"},"reference-count":46,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2021,10,5]],"date-time":"2021-10-05T00:00:00Z","timestamp":1633392000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002924","name":"FEDER","doi-asserted-by":"publisher","award":["PI18\/00362"],"award-info":[{"award-number":["PI18\/00362"]}],"id":[{"id":"10.13039\/501100002924","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002924","name":"FEDER","doi-asserted-by":"publisher","award":["PI19\/01633"],"award-info":[{"award-number":["PI19\/01633"]}],"id":[{"id":"10.13039\/501100002924","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,9,22]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Proteinuria is a well-known risk factor for progressive kidney impairment. Recently, C-terminal cubilin (CUBN) variants have been associated with isolated proteinuria without progression of kidney disease.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Genetic testing of 347 families with proteinuria of suspected monogenic cause was performed by next-generation sequencing of a custom-designed kidney disease gene panel. Families with CUBN biallelic proteinuria-causing variants were studied at the clinical, genetic, laboratory and pathologic levels.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Twelve families (15 patients) bearing homozygous or compound heterozygous proteinuria-causing variants in the C-terminal CUBN gene were identified, representing 3.5% of the total cohort. We identified 14 different sequence variants, five of which were novel. The median age at diagnosis of proteinuria was 4 years (range 9 months to 44 years), and in most cases proteinuria was detected incidentally. Thirteen patients had moderate to severe proteinuria at diagnosis without nephrotic syndrome. These patients showed lack of response to angiotensin-converting enzyme inhibitor (ACEi) and angiotensin receptor blocker (ARB) treatment, normal kidney biopsy and preservation of normal kidney function over time. The two remaining patients presented a more severe phenotype, likely caused by associated comorbidities.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Identification of C-terminal pathogenic CUBN variants is diagnostic of an entity characterized by glomerular proteinuria, normal kidney histology and lack of response to ACEi\/ARB treatment. This study adds evidence and increases awareness about albuminuria caused by C-terminal variants in the CUBN gene, which is a benign condition usually diagnosed in childhood with preserved renal function until adulthood.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ndt\/gfab285","type":"journal-article","created":{"date-parts":[[2021,9,30]],"date-time":"2021-09-30T14:47:48Z","timestamp":1633013268000},"page":"1906-1915","source":"Crossref","is-referenced-by-count":25,"title":["Clinical and genetic characterization of a cohort of proteinuric patients with biallelic <i>CUBN<\/i> variants"],"prefix":"10.1093","volume":"37","author":[{"given":"Andrea","family":"Domingo-Gallego","sequence":"first","affiliation":[{"name":"Molecular Biology Laboratory, Fundaci\u00f3 Puigvert, Instituto de Investigaciones Biom\u00e9dicas Sant Pau (IIB-Sant Pau), Universitat Aut\u00f2noma de Barcelona , REDinREN, Barcelona , Catalonia, Spain"},{"name":"Nephrology Department, Fundaci\u00f3 Puigvert, Instituto de Investigaciones Biom\u00e9dicas Sant Pau (IIB-Sant Pau), Universitat Aut\u00f2noma de Barcelona, Medicine Department , REDinREN, Barcelona , Catalonia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6195-5738","authenticated-orcid":false,"given":"Marc","family":"Pybus","sequence":"additional","affiliation":[{"name":"Molecular Biology Laboratory, Fundaci\u00f3 Puigvert, Instituto de Investigaciones Biom\u00e9dicas Sant Pau (IIB-Sant Pau), Universitat Aut\u00f2noma de Barcelona , REDinREN, Barcelona , Catalonia, Spain"},{"name":"Nephrology Department, Fundaci\u00f3 Puigvert, Instituto de Investigaciones Biom\u00e9dicas Sant Pau (IIB-Sant Pau), Universitat Aut\u00f2noma de Barcelona, Medicine Department , REDinREN, Barcelona , Catalonia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4032-9842","authenticated-orcid":false,"given":"Leire","family":"Madariaga","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology Department, Hospital Universitario Cruces, Instituto de Investigaci\u00f3n Sanitaria Biocruces-Bizkaia, CIBERER, CIBERDEM, Universidad del Pa\u00eds Vasco UPV\/EHU , Barakaldo , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan Alberto","family":"Pi\u00f1ero-Fern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Nephrology Department, Pediatrics Service, Hospital Cl\u00ednico Universitario Virgen de la Arrixaca , Murcia , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Gonz\u00e1lez-Pastor","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology Department, Hospital Universitario Germans Trias i Pujol , Barcelona , Catalonia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mercedes","family":"L\u00f3pez-Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology Department, Hospital Vall d'Hebron, Universitat Aut\u00f2noma de Barcelona , Catalonia , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Simarro-Rueda","sequence":"additional","affiliation":[{"name":"Clinical Analysis Department, Hospital General Universitario de Albacete , Castilla-La Mancha , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Luisa","family":"Quintanilla-Mata","sequence":"additional","affiliation":[{"name":"Clinical Analysis Department, Hospital General Universitario de Albacete , Castilla-La Mancha , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Luisa","family":"Matoses-Ruip\u00e9rez","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology Department , Hospital La Fe, Valencia, Valencia , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laia","family":"Ejarque-Vila","sequence":"additional","affiliation":[{"name":"Molecular Biology Laboratory, Fundaci\u00f3 Puigvert, Instituto de Investigaciones Biom\u00e9dicas Sant Pau (IIB-Sant Pau), Universitat Aut\u00f2noma de Barcelona , REDinREN, Barcelona , Catalonia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilie","family":"Cornec-Le Gall","sequence":"additional","affiliation":[{"name":"Service de N\u00e9phrologie, H\u00e9modialyse et Transplantation R\u00e9nale, Centre Hospitalier Universitaire , Brest , France ; UMR1078 G\u00e9n\u00e9tique, G\u00e9nomique Fonctionnelle et Biotechnologies, INSERM, Universit\u00e9 de Brest, Brest , France ; Universit\u00e9 de Bretagne Occidentale, Brest , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Llu\u00eds","family":"Guirado","sequence":"additional","affiliation":[{"name":"Nephrology Department, Fundaci\u00f3 Puigvert, Instituto de Investigaciones Biom\u00e9dicas Sant Pau (IIB-Sant Pau), Universitat Aut\u00f2noma de Barcelona, Medicine Department , REDinREN, Barcelona , Catalonia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8714-2332","authenticated-orcid":false,"given":"Roser","family":"Torra","sequence":"additional","affiliation":[{"name":"Nephrology Department, Fundaci\u00f3 Puigvert, Instituto de Investigaciones Biom\u00e9dicas Sant Pau (IIB-Sant Pau), Universitat Aut\u00f2noma de Barcelona, Medicine Department , REDinREN, Barcelona , Catalonia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gema","family":"Ariceta","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology Department, Hospital Vall d'Hebron, Universitat Aut\u00f2noma de Barcelona , Catalonia , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4118-4358","authenticated-orcid":false,"given":"Elisabet","family":"Ars","sequence":"additional","affiliation":[{"name":"Molecular Biology Laboratory, Fundaci\u00f3 Puigvert, Instituto de Investigaciones Biom\u00e9dicas Sant Pau (IIB-Sant Pau), Universitat Aut\u00f2noma de Barcelona , REDinREN, Barcelona , Catalonia, Spain"},{"name":"Nephrology Department, Fundaci\u00f3 Puigvert, Instituto de Investigaciones Biom\u00e9dicas Sant Pau (IIB-Sant Pau), Universitat Aut\u00f2noma de Barcelona, Medicine Department , REDinREN, Barcelona , Catalonia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2021,10,5]]},"reference":[{"key":"2022092208185996900_bib1","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1046\/j.1523-1755.2003.00840.x","article-title":"Pathophysiology of proteinuria","volume":"63","author":"D'Amico","year":"2003","journal-title":"Kidney Int"},{"key":"2022092208185996900_bib2","doi-asserted-by":"crossref","first-page":"1353","DOI":"10.1172\/JCI8862","article-title":"Cubilin is an albumin binding protein important for renal tubular albumin reabsorption","volume":"105","author":"Birn","year":"2000","journal-title":"J Clin Invest"},{"key":"2022092208185996900_bib3","doi-asserted-by":"crossref","first-page":"1859","DOI":"10.1681\/ASN.2010050492","article-title":"Cubilin is essential for albumin reabsorption in the renal proximal tubule","volume":"21","author":"Amsellem","year":"2010","journal-title":"J Am Soc Nephrol"},{"key":"2022092208185996900_bib4","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1093\/ndt\/gfs565","article-title":"From bowel to kidneys: the role of cubilin in physiology and disease","volume":"28","author":"Christensen","year":"2013","journal-title":"Nephrol Dial Transplant"},{"key":"2022092208185996900_bib5","doi-asserted-by":"crossref","first-page":"3593","DOI":"10.1182\/blood.V91.10.3593","article-title":"The human intrinsic factor-vitamin B12 receptor, cubilin: molecular characterization and chromosomal mapping of the gene to 10p within the autosomal recessive megaloblastic anemia (MGA1) region","volume":"91","author":"Kozyraki","year":"1998","journal-title":"Blood"},{"key":"2022092208185996900_bib6","doi-asserted-by":"crossref","first-page":"5235","DOI":"10.1074\/jbc.273.9.5235","article-title":"The intrinsic factor-vitamin B12 receptor and target of teratogenic antibodies is a megalin-binding peripheral membrane protein with homology to developmental proteins","volume":"273","author":"Moestrup","year":"1998","journal-title":"J Biol Chem"},{"key":"2022092208185996900_bib7","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1038\/6831","article-title":"Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1","volume":"21","author":"Aminoff","year":"1999","journal-title":"Nat Genet"},{"key":"2022092208185996900_bib8","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1038\/sj.ki.5000141","article-title":"Renal albumin absorption in physiology and pathology","volume":"69","author":"Birn","year":"2006","journal-title":"Kidney Int"},{"key":"2022092208185996900_bib9","doi-asserted-by":"crossref","first-page":"1815","DOI":"10.1681\/ASN.2011040337","article-title":"Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria","volume":"22","author":"Ovunc","year":"2011","journal-title":"J Am Soc Nephrol"},{"key":"2022092208185996900_bib10","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s12882-019-1474-z","article-title":"Isolated proteinuria due to CUBN homozygous mutation - Challenging the investigative paradigm","volume":"20","author":"Jayasinghe","year":"2019","journal-title":"BMC Nephrol"},{"key":"2022092208185996900_bib11","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1172\/JCI129937","article-title":"Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function","volume":"130","author":"Bedin","year":"2019","journal-title":"J Clin Invest"},{"key":"2022092208185996900_bib12","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1681\/ASN.2010060598","article-title":"CUBN is a gene locus for albuminuria","volume":"22","author":"B\u00f6ger","year":"2011","journal-title":"J Am Soc Nephrol"},{"key":"2022092208185996900_bib13","doi-asserted-by":"crossref","first-page":"803","DOI":"10.2337\/db15-1313","article-title":"Genome-wide association studies identify genetic loci associated with albuminuria in diabetes","volume":"65","author":"Teumer","year":"2016","journal-title":"Diabetes"},{"key":"2022092208185996900_bib14","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1016\/j.ajhg.2018.08.004","article-title":"Genetic association of albuminuria with cardiometabolic disease and blood pressure","volume":"103","author":"Haas","year":"2018","journal-title":"Am J Hum Genet"},{"key":"2022092208185996900_bib15","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1007\/s00125-018-4783-z","article-title":"A novel rare CUBN variant and three additional genes identified in Europeans with and without diabetes: results from an exome-wide association study of albuminuria","volume":"62","author":"Ahluwalia","year":"2019","journal-title":"Diabetologia"},{"key":"2022092208185996900_bib16","doi-asserted-by":"crossref","first-page":"1197","DOI":"10.1016\/j.kint.2018.12.017","article-title":"Identification of 22 novel loci associated with urinary biomarkers of albumin, sodium, and potassium excretion","volume":"95","author":"Zanetti","year":"2019","journal-title":"Kidney Int"},{"key":"2022092208185996900_bib17","article-title":"Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players","author":"Domingo-Gallego","year":"2021","journal-title":"Nephrol Dial Transplant"},{"key":"2022092208185996900_bib18","doi-asserted-by":"crossref","first-page":"80","DOI":"10.4161\/fly.19695","article-title":"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","volume":"6","author":"Cingolani","year":"2012","journal-title":"Fly (Austin)"},{"key":"2022092208185996900_bib19","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1002\/humu.22932","article-title":"dbNSFP v3.0: a one-stop database of functional predictions and annotations for human nonsynonymous and splice-site SNVs","volume":"37","author":"Liu","year":"2016","journal-title":"Hum Mutat"},{"key":"2022092208185996900_bib20","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"2022092208185996900_bib21","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1007\/s00431-010-1334-0","article-title":"Clinical practice: proteinuria","volume":"170","author":"Ariceta","year":"2011","journal-title":"Eur J Pediatr"},{"key":"2022092208185996900_bib22","doi-asserted-by":"crossref","first-page":"1832","DOI":"10.2215\/CJN.01640309","article-title":"Measurement and estimation of GFR in children and adolescents","volume":"4","author":"Schwartz","year":"2009","journal-title":"Clin J Am Soc Nephrol"},{"key":"2022092208185996900_bib23","doi-asserted-by":"crossref","first-page":"604","DOI":"10.7326\/0003-4819-150-9-200905050-00006","article-title":"A new equation to estimate glomerular filtration rate","volume":"150","author":"Levey","year":"2018","journal-title":"Ann Intern Med"},{"key":"2022092208185996900_bib24","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1016\/j.kint.2018.02.027","article-title":"A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases","volume":"94","author":"Bullich","year":"2018","journal-title":"Kidney Int"},{"key":"2022092208185996900_bib25","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1111\/cge.13453","article-title":"Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy","volume":"95","author":"M\u00e9j\u00e9case","year":"2019","journal-title":"Clin Genet"},{"key":"2022092208185996900_bib26","doi-asserted-by":"crossref","first-page":"914","DOI":"10.2215\/CJN.00900207","article-title":"Hypothesis: Dent disease is an underrecognized cause of focal glomerulosclerosis","volume":"2","author":"Copelovitch","year":"2007","journal-title":"Clin J Am Soc Nephrol"},{"key":"2022092208185996900_bib27","doi-asserted-by":"crossref","first-page":"27","DOI":"10.2215\/CJN.01740407","article-title":"Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping","volume":"3","author":"Servais","year":"2008","journal-title":"Clin J Am Soc Nephrol"},{"key":"2022092208185996900_bib28","doi-asserted-by":"crossref","first-page":"1529","DOI":"10.1007\/s00467-020-04519-1","article-title":"IPNA clinical practice recommendations for the diagnosis and management of children with steroid-resistant nephrotic syndrome","volume":"35","author":"Trautmann","year":"2020","journal-title":"Pediatr Nephrol"},{"key":"2022092208185996900_bib29","doi-asserted-by":"crossref","first-page":"1002","DOI":"10.1016\/j.biochi.2012.11.004","article-title":"Vitamin B12 absorption: mammalian physiology and acquired and inherited disorders","volume":"95","author":"Kozyraki","year":"2013","journal-title":"Biochimie"},{"key":"2022092208185996900_bib30","doi-asserted-by":"crossref","first-page":"1175","DOI":"10.1007\/s00467-018-3985-4","article-title":"Expert consensus guidelines for the genetic diagnosis of Alport syndrome","volume":"34","author":"Savige","year":"2019","journal-title":"Pediatr Nephrol"},{"key":"2022092208185996900_bib31","doi-asserted-by":"crossref","first-page":"1553","DOI":"10.1002\/humu.23650","article-title":"Specifications of the ACMG\/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants","volume":"39","author":"Lee","year":"2018","journal-title":"Hum Mutat"},{"key":"2022092208185996900_bib32","first-page":"223","volume-title":"Hum Mutat","author":"Fortuno","year":"2021"},{"key":"2022092208185996900_bib33","doi-asserted-by":"crossref","first-page":"1569","DOI":"10.1002\/humu.23649","article-title":"Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): the ClinGen IEM Working Group and the phenylalanine hydroxylase gene","volume":"39","author":"Zastrow","year":"2018","journal-title":"Hum Mutat"},{"key":"2022092208185996900_bib34","doi-asserted-by":"crossref","first-page":"1593","DOI":"10.1002\/humu.23630","article-title":"Expert specification of the ACMG\/AMP variant interpretation guidelines for genetic hearing loss","volume":"39","author":"Oza","year":"2018","journal-title":"Hum Mutat"},{"key":"2022092208185996900_bib35","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":"2018","journal-title":"N Engl J Med"},{"key":"2022092208185996900_bib36","doi-asserted-by":"crossref","first-page":"100","DOI":"10.7326\/M17-1319","article-title":"Whole-exome sequencing in adults with chronic kidney disease","volume":"168","author":"Lata","year":"2018","journal-title":"Ann Intern Med"},{"key":"2022092208185996900_bib37","doi-asserted-by":"crossref","first-page":"914","DOI":"10.1016\/j.kint.2018.10.031","article-title":"Monogenic causes of chronic kidney disease in adults","volume":"95","author":"Connaughton","year":"2019","journal-title":"Kidney Int"},{"key":"2022092208185996900_bib38","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1681\/ASN.2018060575","article-title":"Whole-exome sequencing enables a precision medicine approach for kidney transplant recipients","volume":"30","author":"Mann","year":"2019","journal-title":"J Am Soc Nephrol"},{"key":"2022092208185996900_bib39","first-page":"1","article-title":"Genetics-first approach improves diagnostics of ESKD patients younger than 50 years","author":"Snoek","year":"2020","journal-title":"Nephrol Dial Transplant"},{"key":"2022092208185996900_bib40","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1093\/ndt\/gfy050","article-title":"Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children","volume":"34","author":"Schapiro","year":"2018","journal-title":"Nephrol Dial Transplant"},{"key":"2022092208185996900_bib41","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41598-019-57149-5","article-title":"Comprehensive genetic diagnosis of Japanese patients with severe proteinuria","volume":"10","author":"Nagano","year":"2020","journal-title":"Sci Rep"},{"key":"2022092208185996900_bib42","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"},{"key":"2022092208185996900_bib43","doi-asserted-by":"crossref","first-page":"2369","DOI":"10.1007\/s00467-009-1299-2","article-title":"Dent's disease manifesting as focal glomerulosclerosis: is it the tip of the iceberg?","volume":"24","author":"Frishberg","year":"2009","journal-title":"Pediatr Nephrol"},{"key":"2022092208185996900_bib44","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1007\/s00467-019-04210-0","article-title":"Prevalence of low molecular weight proteinuria and Dent disease 1 CLCN5 mutations in proteinuric cohorts","volume":"35","author":"Beara-lasic","year":"2020","journal-title":"Pediatr Nephrol"},{"key":"2022092208185996900_bib45","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"},{"key":"2022092208185996900_bib46","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1681\/ASN.2013070686","article-title":"Mutations in PAX2 associate with adult-onset FSGS","volume":"25","author":"Barua","year":"2014","journal-title":"J Am Soc Nephrol"}],"container-title":["Nephrology Dialysis Transplantation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/ndt\/advance-article-pdf\/doi\/10.1093\/ndt\/gfab285\/41722015\/gfab285.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ndt\/article-pdf\/37\/10\/1906\/45971929\/gfab285.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ndt\/article-pdf\/37\/10\/1906\/45971929\/gfab285.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,9,22]],"date-time":"2022-09-22T09:15:05Z","timestamp":1663838105000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ndt\/article\/37\/10\/1906\/6381717"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10,5]]},"references-count":46,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2021,10,5]]},"published-print":{"date-parts":[[2022,9,22]]}},"URL":"https:\/\/doi.org\/10.1093\/ndt\/gfab285","relation":{},"ISSN":["0931-0509","1460-2385"],"issn-type":[{"value":"0931-0509","type":"print"},{"value":"1460-2385","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2022,10]]},"published":{"date-parts":[[2021,10,5]]}}}