{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T19:18:25Z","timestamp":1789759105245,"version":"4.0.1"},"reference-count":58,"publisher":"American Society for Clinical Investigation","issue":"1","funder":[{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"crossref","award":["ANR-10-IAHU-01,ANR-14-ACHN-0013"],"award-info":[{"award-number":["ANR-10-IAHU-01,ANR-14-ACHN-0013"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100009708","name":"Novo Nordisk Foundation","doi-asserted-by":"crossref","award":["NNF18OC0052457"],"award-info":[{"award-number":["NNF18OC0052457"]}],"id":[{"id":"10.13039\/501100009708","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"crossref","award":["KO 3598\/5-1,KIDGEM SFB1140 246781735"],"award-info":[{"award-number":["KO 3598\/5-1,KIDGEM SFB1140 246781735"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Federal Ministry or Education and Research","award":["01GM1515C"],"award-info":[{"award-number":["01GM1515C"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,12,3]]},"DOI":"10.1172\/jci129937","type":"journal-article","created":{"date-parts":[[2019,10,15]],"date-time":"2019-10-15T13:23:43Z","timestamp":1571145823000},"page":"335-344","source":"Crossref","is-referenced-by-count":95,"title":["Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function"],"prefix":"10.1172","volume":"130","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3226-9384","authenticated-orcid":false,"given":"Mathilda","family":"Bedin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3957-1359","authenticated-orcid":false,"given":"Olivia","family":"Boyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aude","family":"Servais","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laure","family":"Villoing-Gaud\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Josephe","family":"T\u00eate","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Cambier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4838-9417","authenticated-orcid":false,"given":"Julien","family":"Hogan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronique","family":"Baudouin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saoussen","family":"Krid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert","family":"Bensman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florie","family":"Lammens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ferielle","family":"Louillet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Ranchin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecile","family":"Vigneau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iseline","family":"Bouteau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1048-6636","authenticated-orcid":false,"given":"Corinne","family":"Isnard-Bagnis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christoph J.","family":"Mache","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias","family":"Sch\u00e4fer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3635-6418","authenticated-orcid":false,"given":"Lars","family":"Pape","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2161-1404","authenticated-orcid":false,"given":"Markus","family":"G\u00f6del","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias B.","family":"Huber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2684-7758","authenticated-orcid":false,"given":"Marcus","family":"Benz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00fcnter","family":"Klaus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Hansen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kay","family":"Latta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0238-8224","authenticated-orcid":false,"given":"Olivier","family":"Gribouval","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Morini\u00e8re","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2744-0500","authenticated-orcid":false,"given":"Carole","family":"Tournant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maik","family":"Grohmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Kuhn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timo","family":"Wagner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1935-3063","authenticated-orcid":false,"given":"Christine","family":"Bole-Feysot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9294-7135","authenticated-orcid":false,"given":"Fabienne","family":"Jabot-Hanin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Nitschk\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7464-3354","authenticated-orcid":false,"given":"Tarunveer S.","family":"Ahluwalia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4671-3714","authenticated-orcid":false,"given":"Anna","family":"K\u00f6ttgen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian Brix Folsted","family":"Andersen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carsten","family":"Bergmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9934-4940","authenticated-orcid":false,"given":"Corinne","family":"Antignac","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matias","family":"Simons","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"232","published-online":{"date-parts":[[2019,12,3]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1038\/ki.2010.550"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1038\/ki.2010.531"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2008121270"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2006040377"},{"issue":"8311","key":"B5","doi-asserted-by":"crossref","first-page":"1309","DOI":"10.1016\/S0140-6736(82)91513-6","article-title":"Lipid nephrotoxicity in chronic progressive glomerular and tubulo-interstitial disease","volume":"2","author":"Moorhead","year":"1982","journal-title":"Lancet"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa011161"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.2000.00847.x"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfr708"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1432873100"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2010050492"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfs565"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-014-3037-7"},{"issue":"5","key":"B13","doi-asserted-by":"crossref","first-page":"417","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","year":"2003","journal-title":"Pediatr Nephrol"},{"key":"B14","doi-asserted-by":"publisher","DOI":"10.1038\/s41591-018-0194-4"},{"key":"B15","doi-asserted-by":"publisher","DOI":"10.1242\/dev.164038"},{"key":"B16","doi-asserted-by":"publisher","DOI":"10.1126\/science.aar2131"},{"key":"B17","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-018-07468-4"},{"key":"B18","doi-asserted-by":"publisher","DOI":"10.1038\/nature08874"},{"key":"B19","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2011040337"},{"key":"B20","doi-asserted-by":"publisher","DOI":"10.1007\/s00125-018-4783-z"},{"key":"B21","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2010060598"},{"key":"B22","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.08.004"},{"key":"B23","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"B24","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-017-1779-6"},{"key":"B25","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2018.12.017"},{"key":"B26","doi-asserted-by":"publisher","DOI":"10.2337\/db15-1313"},{"key":"B27","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2018.02.027"},{"key":"B28","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-019-0407-x"},{"key":"B29","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfs462"},{"key":"B30","doi-asserted-by":"publisher","DOI":"10.4103\/AJPN.AJPN_22_18"},{"key":"B31","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20534"},{"key":"B32","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2016.04.022"},{"key":"B33","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds369"},{"key":"B34","doi-asserted-by":"publisher","DOI":"10.1016\/j.biochi.2012.11.004"},{"key":"B35","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M106419200"},{"issue":"2","key":"B36","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1182\/blood.V96.2.405.014k16_405_409","article-title":"Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) by cubilin","volume":"96","author":"Kristiansen","year":"2000","journal-title":"Blood"},{"key":"B37","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1984.tb09937.x"},{"issue":"1","key":"B38","first-page":"147","article-title":"A long-term follow-up of an Imerslund-Grasbeck syndrome patient with proteinuria","volume":"33","author":"Ercan","year":"2013","journal-title":"Nefrologia"},{"key":"B39","doi-asserted-by":"crossref","DOI":"10.1186\/1750-1172-1-17","article-title":"Imerslund-Gr\u00e4sbeck syndrome (selective vitamin B(12) malabsorption with proteinuria)","volume":"1","author":"Gr\u00e4sbeck","year":"2006","journal-title":"Orphanet J Rare Dis"},{"key":"B40","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0854.2010.01042.x"},{"key":"B41","doi-asserted-by":"publisher","DOI":"10.1126\/science.1262110"},{"key":"B42","doi-asserted-by":"crossref","DOI":"10.1186\/1471-2369-13-142","article-title":"Linkage disequilibrium analysis reveals an albuminuria risk haplotype containing three missense mutations in the cubilin gene with striking differences among European and African ancestry populations","volume":"13","author":"Tzur","year":"2012","journal-title":"BMC Nephrol"},{"issue":"3","key":"B43","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1681\/ASN.2017111197","article-title":"The benefits of tubular proteinuria: an evolutionary perspective","volume":"29","author":"Simons","year":"2018","journal-title":"J Am Soc Nephrol"},{"key":"B44","doi-asserted-by":"publisher","DOI":"10.1016\/j.semnephrol.2012.07.008"},{"key":"B45","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/15.9.1348"},{"key":"B46","doi-asserted-by":"publisher","DOI":"10.1038\/ki.2008.405"},{"key":"B47","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2015020190"},{"key":"B48","doi-asserted-by":"publisher","DOI":"10.1152\/ajprenal.00456.2015"},{"key":"B49","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2019.01.035"},{"key":"B50","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.04010609"},{"key":"B51","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1612790"},{"key":"B52","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"B53","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2015.053"},{"key":"B54","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pmed.1001979"},{"key":"B55","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.01640309"},{"key":"B56","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-150-9-200905050-00006"},{"issue":"2 Suppl 1","key":"B57","first-page":"S1","article-title":"K\/DOQI clinical practice guidelines for chronic kidney disease: evaluation, classification, and stratification","volume":"39","author":"National Kidney Foundation","year":"2002","journal-title":"Am J Kidney Dis"},{"key":"B58","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-11576-0"}],"container-title":["Journal of Clinical Investigation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jci.org\/articles\/view\/129937\/files\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,3]],"date-time":"2023-08-03T13:31:26Z","timestamp":1691069486000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jci.org\/articles\/view\/129937"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12,3]]},"references-count":58,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2020,1,2]]},"published-print":{"date-parts":[[2020,1,2]]}},"alternative-id":["10.1172\/JCI129937"],"URL":"https:\/\/doi.org\/10.1172\/jci129937","relation":{},"ISSN":["0021-9738","1558-8238"],"issn-type":[{"value":"0021-9738","type":"print"},{"value":"1558-8238","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,12,3]]}}}