{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T22:47:09Z","timestamp":1790290029136,"version":"4.1.0"},"reference-count":24,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2010,6,1]],"date-time":"2010-06-01T00:00:00Z","timestamp":1275350400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,8,22]],"date-time":"2013-08-22T00:00:00Z","timestamp":1377129600000},"content-version":"vor","delay-in-days":1178,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2010,6]]},"DOI":"10.1016\/j.ajhg.2010.05.006","type":"journal-article","created":{"date-parts":[[2010,6,4]],"date-time":"2010-06-04T04:31:49Z","timestamp":1275625909000},"page":"963-969","source":"Crossref","is-referenced-by-count":101,"title":["Mutations in HPSE2 Cause Urofacial Syndrome"],"prefix":"10.1016","volume":"86","author":[{"given":"Sarah B.","family":"Daly","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill E.","family":"Urquhart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Hilton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward A.","family":"McKenzie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard A.","family":"Kammerer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malcolm","family":"Lewis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bronwyn","family":"Kerr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Stuart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dian","family":"Donnai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Long","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berk","family":"Burgu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ozgu","family":"Aydogdu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Murat","family":"Derbent","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sixto","family":"Garcia-Minaur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Willie","family":"Reardon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Blanca","family":"Gener","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stavit","family":"Shalev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rupert","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adrian S.","family":"Woolf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graeme C.","family":"Black","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William G.","family":"Newman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2010.05.006_bib1","first-page":"2","article-title":"Voiding dysfunction, recurrent urinary infection, constipation, and vesicoureteric reflux: A common disease complex","volume":"25","author":"Hoebeke","year":"2002","journal-title":"Dialog. Pediatr. Urol."},{"key":"10.1016\/j.ajhg.2010.05.006_bib2","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1002\/ajmg.1320270320","article-title":"Urofacial (ochoa) syndrome","volume":"27","author":"Ochoa","year":"1987","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2010.05.006_bib3","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1016\/S0022-5347(17)36659-4","article-title":"The urofacial (Ochoa) syndrome revisited","volume":"148","author":"Ochoa","year":"1992","journal-title":"J. Urol."},{"key":"10.1016\/j.ajhg.2010.05.006_bib4","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1002\/(SICI)1096-8628(19990611)84:5<454::AID-AJMG9>3.0.CO;2-D","article-title":"Genetic homogeneity, high-resolution mapping, and mutation analysis of the urofacial (Ochoa) syndrome and exclusion of the glutamate oxaloacetate transaminase gene (GOT1) in the critical region as the disease gene","volume":"84","author":"Wang","year":"1999","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2010.05.006_bib5","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1002\/ajmg.a.20042","article-title":"High resolution mapping and mutation analyses of candidate genes in the urofacial syndrome (UFS) critical region","volume":"119A","author":"Wang","year":"2003","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2010.05.006_bib6","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1002\/humu.20383","article-title":"Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families","volume":"27","author":"Carr","year":"2006","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2010.05.006_bib7","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1080\/08860220903003370","article-title":"Urofacial (ochoa) syndrome: Can a facial gestalt represent severe voiding dysfunction?","volume":"31","author":"Derbent","year":"2009","journal-title":"Ren. Fail."},{"key":"10.1016\/j.ajhg.2010.05.006_bib8","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1007\/s00431-009-1042-9","article-title":"Ochoa syndrome: A spectrum of urofacial syndrome","volume":"169","author":"Aydogdu","year":"2010","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.ajhg.2010.05.006_bib9","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1097\/00019605-200107000-00002","article-title":"Three new European cases of urofacial (Ochoa) syndrome","volume":"10","author":"Garcia-Minaur","year":"2001","journal-title":"Clin. Dysmorphol."},{"key":"10.1016\/j.ajhg.2010.05.006_bib10","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1002\/1096-8628(20001106)95:1<10::AID-AJMG3>3.0.CO;2-Z","article-title":"Genetic homogeneity of the urofacial (Ochoa) syndrome confirmed in a new French family","volume":"95","author":"Chauve","year":"2000","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2010.05.006_bib11","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1038\/nprot.2009.2","article-title":"Protein structure prediction on the Web: A case study using the Phyre server","volume":"4","author":"Kelley","year":"2009","journal-title":"Nat. Protoc."},{"key":"10.1016\/j.ajhg.2010.05.006_bib12","doi-asserted-by":"crossref","first-page":"4673","DOI":"10.1093\/nar\/22.22.4673","article-title":"CLUSTAL W: Improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice","volume":"22","author":"Thompson","year":"1994","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2010.05.006_bib13","doi-asserted-by":"crossref","first-page":"3381","DOI":"10.1093\/nar\/gkg520","article-title":"SWISS-MODEL: An automated protein homology-modeling server","volume":"31","author":"Schwede","year":"2003","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2010.05.006_bib14","doi-asserted-by":"crossref","first-page":"4922","DOI":"10.1093\/emboj\/cdg494","article-title":"Crystal structure and snapshots along the reaction pathway of a family 51 alpha-L-arabinofuranosidase","volume":"22","author":"H\u00f6vel","year":"2003","journal-title":"EMBO J."},{"key":"10.1016\/j.ajhg.2010.05.006_bib15","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1186\/1477-3155-1-3","article-title":"Application of in situ reverse trancriptase-polymerase chain reaction (RT-PCR) to tissue microarrays","volume":"1","author":"Stamps","year":"2003","journal-title":"J. Nanobiotechnology"},{"key":"10.1016\/j.ajhg.2010.05.006_bib16","doi-asserted-by":"crossref","first-page":"2366","DOI":"10.1016\/j.juro.2009.01.001","article-title":"Unraveling the genetic landscape of bladder development in mice","volume":"181","author":"Price","year":"2009","journal-title":"J. Urol."},{"key":"10.1016\/j.ajhg.2010.05.006_bib17","doi-asserted-by":"crossref","first-page":"1170","DOI":"10.1006\/bbrc.2000.3586","article-title":"Cloning and expression profiling of Hpa2, a novel mammalian heparanase family member","volume":"276","author":"McKenzie","year":"2000","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.ajhg.2010.05.006_bib18","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1007\/s00467-003-1291-1","article-title":"Can a congenital dysfunctional bladder be diagnosed from a smile? The Ochoa syndrome updated","volume":"19","author":"Ochoa","year":"2004","journal-title":"Pediatr. Nephrol."},{"key":"10.1016\/j.ajhg.2010.05.006_bib19","doi-asserted-by":"crossref","first-page":"R1296","DOI":"10.1152\/ajpregu.00688.2002","article-title":"Neurotransmission and viscoelasticity in the ovine fetal bladder after in utero bladder outflow obstruction","volume":"284","author":"Thiruchelvam","year":"2003","journal-title":"Am. J. Physiol. Regul. Integr. Comp. Physiol."},{"key":"10.1016\/j.ajhg.2010.05.006_bib20","doi-asserted-by":"crossref","first-page":"2141","DOI":"10.1681\/ASN.2004090776","article-title":"De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure","volume":"16","author":"Jenkins","year":"2005","journal-title":"J. Am. Soc. Nephrol."},{"key":"10.1016\/j.ajhg.2010.05.006_bib21","doi-asserted-by":"crossref","first-page":"3301","DOI":"10.1242\/dev.022442","article-title":"Teashirt 3 is necessary for ureteral smooth muscle differentiation downstream of SHH and BMP4","volume":"135","author":"Caubit","year":"2008","journal-title":"Development"},{"key":"10.1016\/j.ajhg.2010.05.006_bib22","doi-asserted-by":"crossref","first-page":"1552","DOI":"10.1016\/j.juro.2006.12.011","article-title":"Vascular endothelial growth factor mediates hypoxic stimulated embryonic bladder growth in organ culture","volume":"177","author":"Burgu","year":"2007","journal-title":"J. Urol."},{"key":"10.1016\/j.ajhg.2010.05.006_bib23","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1681\/ASN.2009060624","article-title":"Whole-genome linkage and association scan in primary, nonsyndromic vesicoureteric reflux","volume":"21","author":"Cordell","year":"2010","journal-title":"J. Am. Soc. Nephrol."},{"key":"10.1016\/j.ajhg.2010.05.006_bib24","unstructured":"The Renal Association, UK Renal Registry, The Ninth Annual Report. Available at: http:\/\/www.renalreg.com\/Reports\/2006.html. Accessed March 5, 2010."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929710002533?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929710002533?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,5,29]],"date-time":"2019-05-29T16:39:24Z","timestamp":1559147964000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929710002533"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,6]]},"references-count":24,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2010,6]]}},"alternative-id":["S0002929710002533"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2010.05.006","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2010,6]]}}}