{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T23:53:41Z","timestamp":1791071621123,"version":"4.1.0"},"reference-count":30,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2014,2,1]],"date-time":"2014-02-01T00:00:00Z","timestamp":1391212800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2014,8,6]],"date-time":"2014-08-06T00:00:00Z","timestamp":1407283200000},"content-version":"vor","delay-in-days":186,"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":[[2014,2]]},"DOI":"10.1016\/j.ajhg.2013.12.017","type":"journal-article","created":{"date-parts":[[2014,1,16]],"date-time":"2014-01-16T12:15:23Z","timestamp":1389874523000},"page":"288-294","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":100,"title":["Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans"],"prefix":"10.1016","volume":"94","author":[{"given":"Camille","family":"Humbert","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Flora","family":"Silbermann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bharti","family":"Morar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e9lanie","family":"Parisot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed","family":"Zarhrate","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"Masson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Tores","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Blanchet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Jos\u00e9","family":"Perez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuliya","family":"Petrov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Khau\u00a0Van\u00a0Kien","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joelle","family":"Roume","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brigitte","family":"Leroy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Gribouval","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luba","family":"Kalaydjieva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Heidet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R\u00e9mi","family":"Salomon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Antignac","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandre","family":"Benmerah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Saunier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"Jeanpierre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2013.12.017_bib1","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1038\/ki.2009.220","article-title":"Renal outcome in patients with congenital anomalies of the kidney and urinary tract","volume":"76","author":"Sanna-Cherchi","year":"2009","journal-title":"Kidney Int."},{"key":"10.1016\/j.ajhg.2013.12.017_bib2","doi-asserted-by":"crossref","first-page":"1079","DOI":"10.2215\/CJN.06810909","article-title":"Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases","volume":"5","author":"Heidet","year":"2010","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"10.1016\/j.ajhg.2013.12.017_bib3","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1002\/humu.21402","article-title":"Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations","volume":"32","author":"Krug","year":"2011","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2013.12.017_bib4","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1002\/humu.20691","article-title":"Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR","volume":"29","author":"Orten","year":"2008","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2013.12.017_bib5","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1681\/ASN.2005101040","article-title":"Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort","volume":"17","author":"Ulinski","year":"2006","journal-title":"J.\u00a0Am. Soc. Nephrol."},{"key":"10.1016\/j.ajhg.2013.12.017_bib6","doi-asserted-by":"crossref","first-page":"2864","DOI":"10.1681\/ASN.2006030277","article-title":"Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study","volume":"17","author":"Weber","year":"2006","journal-title":"J.\u00a0Am. Soc. Nephrol."},{"key":"10.1016\/j.ajhg.2013.12.017_bib7","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1016\/j.ajhg.2009.08.010","article-title":"FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome","volume":"85","author":"Alazami","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.12.017_bib8","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1002\/humu.9298","article-title":"Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2)","volume":"25","author":"Albuisson","year":"2005","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2013.12.017_bib9","doi-asserted-by":"crossref","first-page":"e7313","DOI":"10.1371\/journal.pone.0007313","article-title":"GLI3 repressor controls nephron number via regulation of Wnt11 and Ret in ureteric tip cells","volume":"4","author":"Cain","year":"2009","journal-title":"PLoS ONE"},{"key":"10.1016\/j.ajhg.2013.12.017_bib10","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1002\/ajmg.a.34426","article-title":"Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature","volume":"158A","author":"Miller","year":"2012","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2013.12.017_bib11","doi-asserted-by":"crossref","first-page":"3953","DOI":"10.1093\/hmg\/ddn297","article-title":"Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli","volume":"17","author":"Pitera","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2013.12.017_bib12","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1038\/35019088","article-title":"GATA3 haplo-insufficiency causes human HDR syndrome","volume":"406","author":"Van Esch","year":"2000","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2013.12.017_bib13","doi-asserted-by":"crossref","first-page":"2252","DOI":"10.1002\/ajmg.a.32440","article-title":"Molecular study of 33 families with Fraser syndrome new data and mutation review","volume":"146A","author":"van Haelst","year":"2008","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2013.12.017_bib14","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1097\/MD.0b013e31819cf5da","article-title":"Hirschsprung disease and congenital anomalies of the kidney and urinary tract (CAKUT): a novel syndromic association","volume":"88","author":"Pini Prato","year":"2009","journal-title":"Medicine (Baltimore)"},{"key":"10.1016\/j.ajhg.2013.12.017_bib15","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1016\/j.ajhg.2010.03.004","article-title":"LRP4 mutations alter Wnt\/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome","volume":"86","author":"Li","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.12.017_bib16","doi-asserted-by":"crossref","first-page":"3843","DOI":"10.1093\/ndt\/gfr655","article-title":"Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT)","volume":"26","author":"Renkema","year":"2011","journal-title":"Nephrol. Dial. Transplant."},{"key":"10.1016\/j.ajhg.2013.12.017_bib17","doi-asserted-by":"crossref","first-page":"909083","DOI":"10.1155\/2012\/909083","article-title":"Congenital anomalies of the kidney and urinary tract: a genetic disorder?","volume":"2012","author":"Yosypiv","year":"2012","journal-title":"Int. J. Nephrol."},{"key":"10.1016\/j.ajhg.2013.12.017_bib18","doi-asserted-by":"crossref","first-page":"1179","DOI":"10.2215\/CJN.10221012","article-title":"Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes","volume":"8","author":"Madariaga","year":"2013","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"10.1016\/j.ajhg.2013.12.017_bib19","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1016\/j.ajhg.2007.10.008","article-title":"Renal aplasia in humans is associated with RET mutations","volume":"82","author":"Skinner","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.12.017_bib20","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1136\/jmg.2010.088526","article-title":"RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects","volume":"48","author":"Jeanpierre","year":"2011","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ajhg.2013.12.017_bib21","doi-asserted-by":"crossref","first-page":"1191","DOI":"10.1016\/j.devcel.2012.04.018","article-title":"FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man","volume":"22","author":"Barak","year":"2012","journal-title":"Dev. Cell"},{"key":"10.1016\/j.ajhg.2013.12.017_bib22","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1016\/S0092-8674(00)81903-0","article-title":"Integrin alpha8beta1 is critically important for epithelial-mesenchymal interactions during kidney morphogenesis","volume":"88","author":"M\u00fcller","year":"1997","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2013.12.017_bib23","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2013.12.017_bib24","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"McKenna","year":"2010","journal-title":"Genome Res."},{"key":"10.1016\/j.ajhg.2013.12.017_bib25","doi-asserted-by":"crossref","first-page":"2501","DOI":"10.1242\/dev.005033","article-title":"The ECM protein nephronectin promotes kidney development via integrin alpha8beta1-mediated stimulation of Gdnf expression","volume":"134","author":"Linton","year":"2007","journal-title":"Development"},{"key":"10.1016\/j.ajhg.2013.12.017_bib26","doi-asserted-by":"crossref","first-page":"1314","DOI":"10.1086\/324681","article-title":"Origins and divergence of the Roma (gypsies)","volume":"69","author":"Gresham","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.12.017_bib27","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1016\/S0092-8674(02)00971-6","article-title":"Integrins: bidirectional, allosteric signaling machines","volume":"110","author":"Hynes","year":"2002","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2013.12.017_bib28","doi-asserted-by":"crossref","first-page":"3357","DOI":"10.1242\/dev.036269","article-title":"beta1 integrin is necessary for ureteric bud branching morphogenesis and maintenance of collecting duct structural integrity","volume":"136","author":"Zhang","year":"2009","journal-title":"Development"},{"key":"10.1016\/j.ajhg.2013.12.017_bib29","doi-asserted-by":"crossref","first-page":"14524","DOI":"10.1074\/jbc.M900200200","article-title":"Molecular basis of the recognition of nephronectin by integrin alpha8beta1","volume":"284","author":"Sato","year":"2009","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2013.12.017_bib30","doi-asserted-by":"crossref","first-page":"23196","DOI":"10.1074\/jbc.270.39.23196","article-title":"The human integrin alpha 8 beta 1 functions as a receptor for tenascin, fibronectin, and vitronectin","volume":"270","author":"Schnapp","year":"1995","journal-title":"J.\u00a0Biol. Chem."}],"updated-by":[{"DOI":"10.1016\/j.ajhg.2014.04.013","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2014,5,1]],"date-time":"2014-05-01T00:00:00Z","timestamp":1398902400000}}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929713006149?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929713006149?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,10,7]],"date-time":"2018-10-07T05:20:52Z","timestamp":1538889652000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929713006149"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,2]]},"references-count":30,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2014,2]]}},"alternative-id":["S0002929713006149"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2013.12.017","relation":{"erratum":[{"id-type":"doi","id":"10.1016\/j.ajhg.2014.04.013","asserted-by":"object"}]},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2014,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans","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.2013.12.017","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}