{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T04:25:25Z","timestamp":1791606325138,"version":"4.3.4"},"reference-count":25,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2019,10,1]],"date-time":"2019-10-01T00:00:00Z","timestamp":1569888000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,10,1]],"date-time":"2019-10-01T00:00:00Z","timestamp":1569888000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T00:00:00Z","timestamp":1696636800000},"content-version":"vor","delay-in-days":1467,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100012658","name":"National Council for Eurasian and East European Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012658","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100013368","name":"Deutsche Akademie der Naturforscher Leopoldina - Nationale Akademie der Wissenschaften","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100013368","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008035","name":"Harvard Stem Cell Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008035","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002347","name":"Bundesministerium f\u00fcr Bildung und Forschung","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001463","name":"American Society of Nephrology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001463","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["kidney-international.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Kidney International"],"published-print":{"date-parts":[[2019,10]]},"DOI":"10.1016\/j.kint.2019.06.016","type":"journal-article","created":{"date-parts":[[2019,7,10]],"date-time":"2019-07-10T02:10:40Z","timestamp":1562724640000},"page":"883-889","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":44,"title":["Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome"],"prefix":"10.1016","volume":"96","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5043-1699","authenticated-orcid":false,"given":"Ashish K.","family":"Solanki","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugen","family":"Widmeier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ehtesham","family":"Arif","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shailza","family":"Sharma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ankana","family":"Daga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pankaj","family":"Srivastava","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sang-Ho","family":"Kwon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah","family":"Hugo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Makiko","family":"Nakayama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nina","family":"Mann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amar J.","family":"Majmundar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Tan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heon Yung","family":"Gee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline E.","family":"Sadowski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Choni","family":"Rinat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Becker-Cohen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carsten","family":"Bergmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seymour","family":"Rosen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Somers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shirlee","family":"Shril","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias B.","family":"Huber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shrikant","family":"Mane","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Friedhelm","family":"Hildebrandt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deepak","family":"Nihalani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.kint.2019.06.016_bib1","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1111\/j.1399-3046.2007.00704.x","article-title":"Contributions of the transplant registry: the 2006 Annual Report of the North American Pediatric Renal Trials and Collaborative Studies (NAPRTCS)","volume":"11","author":"Smith","year":"2007","journal-title":"Pediatr Transplant"},{"key":"10.1016\/j.kint.2019.06.016_bib2","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1038\/nrneph.2012.115","article-title":"Childhood nephrotic syndrome\u2014current and future therapies","volume":"8","author":"Greenbaum","year":"2012","journal-title":"Nat Rev Nephrol"},{"key":"10.1016\/j.kint.2019.06.016_bib3","doi-asserted-by":"crossref","first-page":"1802","DOI":"10.1093\/ndt\/gfv355","article-title":"Genetic testing in steroid-resistant nephrotic syndrome: when and how?","volume":"31","author":"Lovric","year":"2016","journal-title":"Nephrol Dial Transplant"},{"key":"10.1016\/j.kint.2019.06.016_bib4","doi-asserted-by":"crossref","first-page":"R185","DOI":"10.1093\/hmg\/ddp328","article-title":"Genetics of nephrotic syndrome: connecting molecular genetics to podocyte physiology","volume":"18","author":"Machuca","year":"2009","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.kint.2019.06.016_bib5","doi-asserted-by":"crossref","first-page":"1387","DOI":"10.1056\/NEJMra052131","article-title":"Hereditary proteinuria syndromes and mechanisms of proteinuria","volume":"354","author":"Tryggvason","year":"2006","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.kint.2019.06.016_bib6","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1007\/s10157-003-0259-6","article-title":"The role of podocytes in glomerular pathobiology","volume":"7","author":"Asanuma","year":"2003","journal-title":"Clin Exp Nephrol"},{"key":"10.1016\/j.kint.2019.06.016_bib7","doi-asserted-by":"crossref","first-page":"7962","DOI":"10.1073\/pnas.96.14.7962","article-title":"Nephrin is specifically located at the slit diaphragm of glomerular podocytes","volume":"96","author":"Ruotsalainen","year":"1999","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.kint.2019.06.016_bib8","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1096\/fj.02-0242fje","article-title":"NEPH1 defines a novel family of podocin interacting proteins","volume":"17","author":"Sellin","year":"2003","journal-title":"FASEB J"},{"key":"10.1016\/j.kint.2019.06.016_bib9","doi-asserted-by":"crossref","first-page":"4829","DOI":"10.1128\/MCB.21.14.4829-4836.2001","article-title":"Proteinuria and perinatal lethality in mice lacking NEPH1, a novel protein with homology to NEPHRIN","volume":"21","author":"Donoviel","year":"2001","journal-title":"Mol Cell Biol"},{"key":"10.1016\/j.kint.2019.06.016_bib10","doi-asserted-by":"crossref","first-page":"19266","DOI":"10.1074\/jbc.M301279200","article-title":"Nephrin and Neph1 co-localize at the podocyte foot process intercellular junction and form cis hetero-oligomers","volume":"278","author":"Barletta","year":"2003","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.kint.2019.06.016_bib11","doi-asserted-by":"crossref","first-page":"9177","DOI":"10.1074\/jbc.M707247200","article-title":"Neph1, a component of the kidney slit diaphragm, is tyrosine-phosphorylated by the Src family tyrosine kinase and modulates intracellular signaling by binding to Grb2","volume":"283","author":"Harita","year":"2008","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.kint.2019.06.016_bib12","doi-asserted-by":"crossref","first-page":"8698","DOI":"10.1128\/MCB.00948-07","article-title":"Neph1 cooperates with nephrin to transduce a signal that induces actin polymerization","volume":"27","author":"Garg","year":"2007","journal-title":"Mol Cell Biol"},{"key":"10.1016\/j.kint.2019.06.016_bib13","doi-asserted-by":"crossref","first-page":"9502","DOI":"10.1074\/jbc.M113.505743","article-title":"Slit diaphragm protein Neph1 and its signaling: a novel therapeutic target for protection of podocytes against glomerular injury","volume":"289","author":"Arif","year":"2014","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.kint.2019.06.016_bib14","doi-asserted-by":"crossref","first-page":"910","DOI":"10.1038\/ng.2347","article-title":"FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair","volume":"44","author":"Zhou","year":"2012","journal-title":"Nat Genet"},{"key":"10.1016\/j.kint.2019.06.016_bib15","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1000353","article-title":"A\u00a0systematic approach to mapping recessive disease genes in individuals from outbred populations","volume":"5","author":"Hildebrandt","year":"2009","journal-title":"PLoS Genet"},{"key":"10.1016\/j.kint.2019.06.016_bib16","doi-asserted-by":"crossref","first-page":"53","DOI":"10.2215\/CJN.04120417","article-title":"Whole exome sequencing of patients with steroid-resistant nephrotic syndrome","volume":"13","author":"Warejko","year":"2018","journal-title":"Clin J Am Soc Nephrol"},{"key":"10.1016\/j.kint.2019.06.016_bib17","doi-asserted-by":"crossref","first-page":"12047","DOI":"10.1038\/s41598-017-12134-8","article-title":"Targeting Neph1 and ZO-1 protein-protein interaction in podocytes prevents podocyte injury and preserves glomerular filtration function","volume":"7","author":"Sagar","year":"2017","journal-title":"Sci Rep"},{"key":"10.1016\/j.kint.2019.06.016_bib18","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"},{"key":"10.1016\/j.kint.2019.06.016_bib19","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1038\/nature13127","article-title":"Guidelines for investigating causality of sequence variants in human disease","volume":"508","author":"MacArthur","year":"2014","journal-title":"Nature"},{"key":"10.1016\/j.kint.2019.06.016_bib20","doi-asserted-by":"crossref","first-page":"918","DOI":"10.1097\/01.ASN.0000057853.05686.89","article-title":"Homodimerization and heterodimerization of the glomerular podocyte proteins nephrin and NEPH1","volume":"14","author":"Gerke","year":"2003","journal-title":"J\u00a0Am Soc Nephrol"},{"key":"10.1016\/j.kint.2019.06.016_bib21","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.2337\/diabetes.52.4.1023","article-title":"Nephrin expression is reduced in human diabetic nephropathy: evidence for a distinct role for glycated albumin and angiotensin II","volume":"52","author":"Doublier","year":"2003","journal-title":"Diabetes"},{"key":"10.1016\/j.kint.2019.06.016_bib22","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1159\/000365091","article-title":"Neph1 is reduced in primary focal segmental glomerulosclerosis, minimal change nephrotic syndrome, and corresponding experimental animal models of adriamycin-induced nephropathy and puromycin aminonucleoside nephrosis","volume":"4","author":"Hulkko","year":"2014","journal-title":"Nephron Extra"},{"key":"10.1016\/j.kint.2019.06.016_bib23","doi-asserted-by":"crossref","first-page":"1475","DOI":"10.1101\/gad.13.11.1475","article-title":"Hrs, a FYVE finger protein localized to early endosomes, is implicated in vesicular traffic and required for ventral folding morphogenesis","volume":"13","author":"Komada","year":"1999","journal-title":"Genes Dev"},{"key":"10.1016\/j.kint.2019.06.016_bib24","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1038\/nrneph.2015.205","article-title":"Exploring the genetic basis of early-onset chronic kidney disease","volume":"12","author":"Vivante","year":"2016","journal-title":"Nat Rev Nephrol"},{"key":"10.1016\/j.kint.2019.06.016_bib25","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1681\/ASN.V133630","article-title":"A\u00a0conditionally immortalized human podocyte cell line demonstrating nephrin and podocin expression","volume":"13","author":"Saleem","year":"2002","journal-title":"J\u00a0Am Soc Nephrol"}],"container-title":["Kidney International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0085253819307033?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0085253819307033?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T00:53:09Z","timestamp":1758761589000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0085253819307033"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,10]]},"references-count":25,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2019,10]]}},"alternative-id":["S0085253819307033"],"URL":"https:\/\/doi.org\/10.1016\/j.kint.2019.06.016","relation":{},"ISSN":["0085-2538"],"issn-type":[{"value":"0085-2538","type":"print"}],"subject":[],"published":{"date-parts":[[2019,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome","name":"articletitle","label":"Article Title"},{"value":"Kidney International","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.kint.2019.06.016","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 International Society of Nephrology. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}