{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T19:24:57Z","timestamp":1792092297666,"version":"4.4.0"},"reference-count":23,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,7,8]],"date-time":"2015-07-08T00:00:00Z","timestamp":1436313600000},"content-version":"vor","delay-in-days":188,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["ajhg.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2015,1]]},"DOI":"10.1016\/j.ajhg.2014.11.014","type":"journal-article","created":{"date-parts":[[2014,12,31]],"date-time":"2014-12-31T16:45:20Z","timestamp":1420044320000},"page":"153-161","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":111,"title":["Defects of CRB2 Cause Steroid-Resistant Nephrotic Syndrome"],"prefix":"10.1016","volume":"96","author":[{"given":"Lwaki","family":"Ebarasi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shazia","family":"Ashraf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agnieszka","family":"Bierzynska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heon\u00a0Yung","family":"Gee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hugh\u00a0J.","family":"McCarthy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Svjetlana","family":"Lovric","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolin\u00a0E.","family":"Sadowski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Werner","family":"Pabst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginia","family":"Vega-Warner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Humphrey","family":"Fang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ania","family":"Koziell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael\u00a0A.","family":"Simpson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ismail","family":"Dursun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erkin","family":"Serdaroglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shawn","family":"Levy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moin\u00a0A.","family":"Saleem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Friedhelm","family":"Hildebrandt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arindam","family":"Majumdar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2014.11.014_bib1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1681\/ASN.V1111","article-title":"The glomerular slit diaphragm is a modified adherens junction","volume":"11","author":"Reiser","year":"2000","journal-title":"J.\u00a0Am. Soc. Nephrol."},{"key":"10.1016\/j.ajhg.2014.11.014_bib2","doi-asserted-by":"crossref","first-page":"1205","DOI":"10.1038\/sj.ki.5002222","article-title":"The spectrum of podocytopathies: a unifying view of glomerular diseases","volume":"71","author":"Wiggins","year":"2007","journal-title":"Kidney Int."},{"key":"10.1016\/j.ajhg.2014.11.014_bib3","doi-asserted-by":"crossref","first-page":"1525","DOI":"10.1007\/s00467-009-1138-5","article-title":"Long-term outcome of idiopathic steroid-resistant nephrotic syndrome: a multicenter study","volume":"24","author":"Mekahli","year":"2009","journal-title":"Pediatr. Nephrol."},{"key":"10.1016\/j.ajhg.2014.11.014_bib4","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1038\/ki.1981.209","article-title":"Primary nephrotic syndrome in children: clinical significance of histopathologic variants of minimal change and of diffuse mesangial hypercellularity. A Report of the International Study of Kidney Disease in Children","volume":"20","year":"1981","journal-title":"Kidney Int."},{"key":"10.1016\/j.ajhg.2014.11.014_bib5","doi-asserted-by":"crossref","first-page":"1621","DOI":"10.1007\/s00467-010-1495-0","article-title":"Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations","volume":"25","author":"Benoit","year":"2010","journal-title":"Pediatr. Nephrol."},{"key":"10.1016\/j.ajhg.2014.11.014_bib6","doi-asserted-by":"crossref","first-page":"1109","DOI":"10.2215\/CJN.09010813","article-title":"Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome","volume":"9","author":"Lovric","year":"2014","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"10.1016\/j.ajhg.2014.11.014_bib7","doi-asserted-by":"crossref","first-page":"e1000353","DOI":"10.1371\/journal.pgen.1000353","article-title":"A systematic 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.ajhg.2014.11.014_bib8","doi-asserted-by":"crossref","first-page":"756","DOI":"10.1136\/jmedgenet-2012-100973","article-title":"High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing","volume":"49","author":"Halbritter","year":"2012","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ajhg.2014.11.014_bib9","first-page":"743","article-title":"Identification and characterization of Crumbs homolog 2 gene at human chromosome 9q33.3","volume":"24","author":"Katoh","year":"2004","journal-title":"Int. J. Oncol."},{"key":"10.1016\/j.ajhg.2014.11.014_bib10","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1002\/humu.20093","article-title":"CRB1 mutation spectrum in inherited retinal dystrophies","volume":"24","author":"den Hollander","year":"2004","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2014.11.014_bib11","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1002\/humu.21653","article-title":"CRB1 mutations in inherited retinal dystrophies","volume":"33","author":"Bujakowska","year":"2012","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2014.11.014_bib12","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ydbio.2009.04.017","article-title":"A reverse genetic screen in the zebrafish identifies crb2b as a regulator of the glomerular filtration barrier","volume":"334","author":"Ebarasi","year":"2009","journal-title":"Dev. Biol."},{"key":"10.1016\/j.ajhg.2014.11.014_bib13","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1016\/j.tig.2006.06.011","article-title":"Mutagenesis strategies in zebrafish for identifying genes involved in development and disease","volume":"22","author":"Amsterdam","year":"2006","journal-title":"Trends Genet."},{"key":"10.1016\/j.ajhg.2014.11.014_bib14","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1093\/bfgp\/eln038","article-title":"Using retroviruses as a mutagenesis tool to explore the zebrafish genome","volume":"7","author":"Jao","year":"2008","journal-title":"Brief. Funct. Genomics Proteomics"},{"key":"10.1016\/j.ajhg.2014.11.014_bib15","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1093\/hmg\/dds398","article-title":"Loss of CRB2 in the mouse retina mimics human retinitis pigmentosa due to mutations in the CRB1 gene","volume":"22","author":"Alves","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2014.11.014_bib16","doi-asserted-by":"crossref","first-page":"1261","DOI":"10.1016\/j.devcel.2012.03.007","article-title":"Crb apical polarity proteins maintain zebrafish retinal cone mosaics via intercellular binding of their extracellular domains","volume":"22","author":"Zou","year":"2012","journal-title":"Dev. Cell"},{"key":"10.1016\/j.ajhg.2014.11.014_bib17","doi-asserted-by":"crossref","first-page":"1591","DOI":"10.1083\/jcb.98.4.1591","article-title":"Identification and characterization of podocalyxin\u2014the major sialoprotein of the renal glomerular epithelial cell","volume":"98","author":"Kerjaschki","year":"1984","journal-title":"J.\u00a0Cell Biol."},{"key":"10.1016\/j.ajhg.2014.11.014_bib18","doi-asserted-by":"crossref","first-page":"1942","DOI":"10.1016\/j.cub.2011.10.016","article-title":"Distinct cellular mechanisms of blood vessel fusion in the zebrafish embryo","volume":"21","author":"Herwig","year":"2011","journal-title":"Curr. Biol."},{"key":"10.1016\/j.ajhg.2014.11.014_bib19","doi-asserted-by":"crossref","first-page":"24035","DOI":"10.1074\/jbc.M113.452904","article-title":"Planar cell polarity pathway regulates nephrin endocytosis in developing podocytes","volume":"288","author":"Babayeva","year":"2013","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2014.11.014_bib20","doi-asserted-by":"crossref","first-page":"23033","DOI":"10.1074\/jbc.M803143200","article-title":"Neph-Nephrin proteins bind the Par3-Par6-atypical protein kinase C (aPKC) complex to regulate podocyte cell polarity","volume":"283","author":"Hartleben","year":"2008","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2014.11.014_bib21","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1093\/jb\/mvu022","article-title":"aPKC\u03bb maintains\u00a0the integrity of the glomerular slit diaphragm through trafficking of nephrin to the cell surface","volume":"156","author":"Satoh","year":"2014","journal-title":"J.\u00a0Biochem."},{"key":"10.1016\/j.ajhg.2014.11.014_bib22","doi-asserted-by":"crossref","first-page":"1255","DOI":"10.1083\/jcb.111.3.1255","article-title":"The\u00a0tight junction protein ZO-1 is concentrated along slit diaphragms of the glomerular epithelium","volume":"111","author":"Schnabel","year":"1990","journal-title":"J.\u00a0Cell Biol."},{"key":"10.1016\/j.ajhg.2014.11.014_bib23","doi-asserted-by":"crossref","first-page":"1491","DOI":"10.1681\/ASN.2008101117","article-title":"Slit diaphragms contain tight junction proteins","volume":"20","author":"Fukasawa","year":"2009","journal-title":"J.\u00a0Am. Soc. Nephrol."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929714004807?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929714004807?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,4,25]],"date-time":"2022-04-25T19:38:40Z","timestamp":1650915520000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929714004807"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,1]]},"references-count":23,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015,1]]}},"alternative-id":["S0002929714004807"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2014.11.014","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2015,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Defects of CRB2 Cause Steroid-Resistant Nephrotic Syndrome","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2014.11.014","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2014.11.013","name":"associatedlink","label":"CrossRef DOI link to the associated document"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}