{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T17:33:38Z","timestamp":1787506418695,"version":"build-2736575974"},"reference-count":13,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,2,7]]},"DOI":"10.7759\/cureus.34730","type":"journal-article","created":{"date-parts":[[2023,2,7]],"date-time":"2023-02-07T10:22:01Z","timestamp":1675765321000},"source":"Crossref","is-referenced-by-count":2,"title":["Podocytopathy and Glomerular Basement Membrane Anomalies in Two Patients With Cubilin Gene Mutations"],"prefix":"10.7759","author":[{"given":"Sara","family":"Madureira Gomes","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Isabel","family":"Igreja","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Silva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jo\u00e3o Paulo","family":"Oliveira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helena","family":"Pinto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-009-1381-9","article-title":"Proteinuria and events beyond the slit","volume":"25","author":"Nielsen R","year":"2010","unstructured":"Nielsen R, Christensen EI. Proteinuria and events beyond the slit. Pediatr Nephrol. 2010, 25:813-822. 10.1007\/s00467-009-1381-9","journal-title":"Pediatr Nephrol"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2010.39","article-title":"Relation between kidney function, proteinuria, and adverse outcomes","volume":"303","author":"Hemmelgarn BR","year":"2010","unstructured":"Hemmelgarn BR, Manns BJ, Lloyd A, et al.. Relation between kidney function, proteinuria, and adverse outcomes. JAMA. 2010, 303:423-429. 10.1001\/jama.2010.39","journal-title":"JAMA"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2010060598","article-title":"CUBN is a gene locus for albuminuria","volume":"22","author":"B\u00f6ger CA","year":"2011","unstructured":"B\u00f6ger CA, Chen MH, Tin A, et al.. CUBN is a gene locus for albuminuria. J Am Soc Nephrol. 2011, 22:555-570. 10.1681\/ASN.2010060598","journal-title":"J Am Soc Nephrol"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfr794","article-title":"Cubilin is expressed in rat and human glomerular podocytes","volume":"27","author":"Prabakaran T","year":"2012","unstructured":"Prabakaran T, Christensen EI, Nielsen R, Verroust PJ. Cubilin is expressed in rat and human glomerular podocytes. Nephrol Dial Transplant. 2012, 27:3156-3159. 10.1093\/ndt\/gfr794","journal-title":"Nephrol Dial Transplant"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1186\/s12882-019-1474-z","article-title":"Isolated proteinuria due to CUBN homozygous mutation - challenging the investigative paradigm","volume":"20","author":"Jayasinghe K","year":"2019","unstructured":"Jayasinghe K, White SM, Kerr PG, et al.. Isolated proteinuria due to CUBN homozygous mutation - challenging the investigative paradigm. BMC Nephrol. 2019, 20:330. 10.1186\/s12882-019-1474-z","journal-title":"BMC Nephrol"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1186\/s12882-021-02654-x","article-title":"CUBN gene mutations may cause focal segmental glomerulosclerosis (FSGS) in children","volume":"23","author":"Yang J","year":"2022","unstructured":"Yang J, Xu Y, Deng L, Zhou L, Qiu L, Zhang Y, Zhou J. CUBN gene mutations may cause focal segmental glomerulosclerosis (FSGS) in children. BMC Nephrol. 2022, 23:15. 10.1186\/s12882-021-02654-x","journal-title":"BMC Nephrol"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1172\/JCI129937","article-title":"Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function","volume":"130","author":"Bedin M","year":"2020","unstructured":"Bedin M, Boyer O, Servais A, et al.. Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function. J Clin Invest. 2020, 130:335-344. 10.1172\/JCI129937","journal-title":"J Clin Invest"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038\/s41581-019-0242-4","article-title":"CUBN variants uncouple proteinuria from kidney function","volume":"16","author":"Quinlan C","year":"2020","unstructured":"Quinlan C. CUBN variants uncouple proteinuria from kidney function. Nat Rev Nephrol. 2020, 16:135-136. 10.1038\/s41581-019-0242-4","journal-title":"Nat Rev Nephrol"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.3265\/Nefrologia.pre2012.Aug.11661","article-title":"A long-term follow-up of an Imerslund-Grasbeck syndrome patient with proteinuria","volume":"33","author":"Ercan Z","year":"2013","unstructured":"Ercan Z, Demir ME, Ulas T, Ingec M, Horoz M. A long-term follow-up of an Imerslund-Grasbeck syndrome patient with proteinuria. Nefrologia. 2013, 33:147-148. 10.3265\/Nefrologia.pre2012.Aug.11661","journal-title":"Nefrologia"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-003-1128-y","article-title":"Proteinuria in cubilin-deficient patients with selective vitamin B12 malabsorption","volume":"18","author":"Wahlstedt-Fr\u00f6berg V","year":"2003","unstructured":"Wahlstedt-Fr\u00f6berg V, Pettersson T, Aminoff M, Dugu\u00e9 B, Gr\u00e4sbeck R. Proteinuria in cubilin-deficient patients with selective vitamin B12 malabsorption. Pediatr Nephrol. 2003, 18:417-421. 10.1007\/s00467-003-1128-y","journal-title":"Pediatr Nephrol"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0036512","article-title":"CUBN as a novel locus for end-stage renal disease: insights from renal transplantation","volume":"7","author":"Reznichenko A","year":"2012","unstructured":"Reznichenko A, Snieder H, van den Born J, et al.. CUBN as a novel locus for end-stage renal disease: insights from renal transplantation. PLoS One. 2012, 7:e36512. 10.1371\/journal.pone.0036512","journal-title":"PLoS One"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000023585","article-title":"Proceedings of the 24th Annual Meeting of the Portuguese Society of Human Genetics (SPGH - Sociedade Portuguesa de Gen\u00e9tica Humana)","volume":"100","year":"2021","unstructured":"Proceedings of the 24th Annual Meeting of the Portuguese Society of Human Genetics (SPGH - Sociedade Portuguesa de Gen\u00e9tica Humana). Medicine (Baltimore). 2021, 100.e23585. 10.1097\/MD.0000000000023585","journal-title":"Medicine (Baltimore)"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfab285","article-title":"Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants","volume":"37","author":"Domingo-Gallego A","year":"2022","unstructured":"Domingo-Gallego A, Pybus M, Madariaga L, et al.. Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants. Nephrol Dial Transplant. 2022, 37:1906-1915. 10.1093\/ndt\/gfab285","journal-title":"Nephrol Dial Transplant"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/137630-podocytopathy-and-glomerular-basement-membrane-anomalies-in-two-patients-with-cubilin-gene-mutations","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,9]],"date-time":"2024-02-09T14:58:25Z","timestamp":1707490705000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/137630-podocytopathy-and-glomerular-basement-membrane-anomalies-in-two-patients-with-cubilin-gene-mutations"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2,7]]},"references-count":13,"URL":"https:\/\/doi.org\/10.7759\/cureus.34730","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2023,2,7]]}}}