{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T20:08:04Z","timestamp":1761854884504,"version":"build-2065373602"},"reference-count":51,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2018,6,1]],"date-time":"2018-06-01T00:00:00Z","timestamp":1527811200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,6,1]],"date-time":"2018-06-01T00:00:00Z","timestamp":1527811200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","pathologyjournal.rcpa.edu.au","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Pathology"],"published-print":{"date-parts":[[2018,6]]},"DOI":"10.1016\/j.pathol.2017.12.341","type":"journal-article","created":{"date-parts":[[2018,5,6]],"date-time":"2018-05-06T23:36:02Z","timestamp":1525649762000},"page":"377-381","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"title":["The Wilms' tumour 1 gene as a factor in non-syndromic hypospadias: evidence and controversy"],"prefix":"10.1016","volume":"50","author":[{"given":"Gergely","family":"Bugly\u00f3","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D\u00e1niel","family":"Beyer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S\u00e1ndor","family":"Bir\u00f3","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c9va","family":"Ol\u00e1h","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.pathol.2017.12.341_bib1","doi-asserted-by":"crossref","first-page":"2159","DOI":"10.1007\/s00345-015-1507-6","article-title":"Epidemiology of hypospadias in Europe: a registry-based study","volume":"33","author":"Bergman","year":"2015","journal-title":"World J Urol"},{"key":"10.1016\/j.pathol.2017.12.341_bib2","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1289\/ehp.99107297","article-title":"International trends in rates of hypospadias and cryptorchidism","volume":"107","author":"Paulozzi","year":"1999","journal-title":"Environ Health Perspect"},{"key":"10.1016\/j.pathol.2017.12.341_bib3","doi-asserted-by":"crossref","first-page":"1241","DOI":"10.1016\/j.urology.2008.12.081","article-title":"Increasing prevalence of hypospadias associated with various perinatal risk factors in Chinese newborns","volume":"73","author":"Sun","year":"2009","journal-title":"Urology"},{"key":"10.1016\/j.pathol.2017.12.341_bib4","doi-asserted-by":"crossref","first-page":"1022","DOI":"10.1016\/j.eururo.2009.01.005","article-title":"Prevalence of hypospadias in Danish boys: a longitudinal study, 1977\u20132005","volume":"55","author":"Lund","year":"2009","journal-title":"Eur Urol"},{"key":"10.1016\/j.pathol.2017.12.341_bib5","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1289\/ehp.00108463","article-title":"Is the incidence of hypospadias increasing? Analysis of Finnish hospital discharge data 1970\u20131994","volume":"108","author":"Aho","year":"2000","journal-title":"Environ Health Perspect"},{"key":"10.1016\/j.pathol.2017.12.341_bib6","doi-asserted-by":"crossref","first-page":"e495","DOI":"10.1542\/peds.2004-1552","article-title":"Hypospadias in Washington State: maternal risk factors and prevalence trends","volume":"115","author":"Porter","year":"2005","journal-title":"Pediatrics"},{"key":"10.1016\/j.pathol.2017.12.341_bib7","doi-asserted-by":"crossref","first-page":"152.e1","DOI":"10.1016\/j.jpurol.2015.12.002","article-title":"Worldwide prevalence of hypospadias","volume":"12","author":"Springer","year":"2016","journal-title":"J\u00a0Pediatr Urol"},{"key":"10.1016\/j.pathol.2017.12.341_bib8","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1111\/j.1365-2605.2008.00899.x","article-title":"Is hypospadias a genetic, endocrine or environmental disease, or still an unexplained malformation?","volume":"32","author":"Kalfa","year":"2009","journal-title":"Int J Androl"},{"key":"10.1016\/j.pathol.2017.12.341_bib9","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1093\/aje\/kwm317","article-title":"Familial aggregation of hypospadias: a cohort study","volume":"167","author":"Schnack","year":"2007","journal-title":"Am J Epidemiol"},{"key":"10.1016\/j.pathol.2017.12.341_bib10","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1016\/0092-8674(90)90600-J","article-title":"Complete physical map of the WAGR region of 11p13 localizes a candidate Wilms' tumor gene","volume":"60","author":"Rose","year":"1990","journal-title":"Cell"},{"key":"10.1016\/j.pathol.2017.12.341_bib11","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1093\/hmg\/2.3.259","article-title":"Evidence that WT1 mutations in Denys\u2013Drash syndrome patients may act in a dominant-negative fashion","volume":"2","author":"Little","year":"1993","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.pathol.2017.12.341_bib12","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1038\/ng1297-467","article-title":"Donor splice-site mutations in WT1 are responsible for Frasier syndrome","volume":"17","author":"Barbaux","year":"1997","journal-title":"Nat Genet"},{"key":"10.1016\/j.pathol.2017.12.341_bib13","doi-asserted-by":"crossref","first-page":"4480","DOI":"10.1210\/jc.2004-0863","article-title":"Mutations in the Desert hedgehog (DHH) gene in patients with 46, XY complete pure gonadal dysgenesis","volume":"89","author":"Canto","year":"2004","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.pathol.2017.12.341_bib14","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1002\/(SICI)1096-8628(19991203)87:4<349::AID-AJMG13>3.0.CO;2-N","article-title":"Autosomal XX sex reversal caused by duplication of SOX9","volume":"87","author":"Huang","year":"1999","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.pathol.2017.12.341_bib15","doi-asserted-by":"crossref","first-page":"e24117","DOI":"10.1371\/journal.pone.0024117","article-title":"Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias","volume":"6","author":"Allali","year":"2011","journal-title":"PLoS One"},{"key":"10.1016\/j.pathol.2017.12.341_bib16","doi-asserted-by":"crossref","first-page":"E1131","DOI":"10.1210\/jc.2010-2804","article-title":"Analysis of the Wilms' tumor suppressor gene (WT1) in Patients 46, XY disorders of sex development","volume":"96","author":"K\u00f6hler","year":"2011","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.pathol.2017.12.341_bib17","doi-asserted-by":"crossref","first-page":"11932","DOI":"10.1073\/pnas.97.22.11932","article-title":"Molecular basis for modulation of biological function by alternate splicing of the Wilms' tumor suppressor protein","volume":"97","author":"Laity","year":"2000","journal-title":"Proc Natl Acad Sci"},{"key":"10.1016\/j.pathol.2017.12.341_bib18","doi-asserted-by":"crossref","first-page":"1597","DOI":"10.1101\/gad.1402306","article-title":"The Wilms' tumor 1 (WT1) gene (+KTS isoform) functions with a CTE to enhance translation from an unspliced RNA with a retained intron","volume":"20","author":"Bor","year":"2006","journal-title":"Genes Dev"},{"key":"10.1016\/j.pathol.2017.12.341_bib19","first-page":"55","article-title":"The post-transcriptional roles of WT1, a multifunctional zinc-finger protein","volume":"1785","author":"Morrison","year":"2008","journal-title":"Biochim Biophys Acta"},{"issue":"Suppl 2","key":"10.1016\/j.pathol.2017.12.341_bib20","doi-asserted-by":"crossref","first-page":"R196","DOI":"10.1093\/hmg\/ddl196","article-title":"The many facets of the Wilms' tumour gene, WT1","volume":"15","author":"Hohenstein","year":"2006","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.pathol.2017.12.341_bib21","doi-asserted-by":"crossref","first-page":"1228","DOI":"10.1093\/carcin\/bgx108","article-title":"The CUG-translated WT1, not AUG-WT1, is an oncogene","volume":"38","author":"Lee","year":"2017","journal-title":"Carcinogenesis"},{"key":"10.1016\/j.pathol.2017.12.341_bib22","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1002\/path.2977","article-title":"WT1 in disease: shifting the epithelial-mesenchymal balance","volume":"226","author":"Miller-Hodges","year":"2011","journal-title":"J\u00a0Pathol"},{"key":"10.1016\/j.pathol.2017.12.341_bib23","doi-asserted-by":"crossref","first-page":"3785","DOI":"10.1074\/jbc.M115.678029","article-title":"Wilms tumor suppressor, WT1, cooperates with microRNA-26a and microRNA-101 to suppress translation of the polycomb protein, EZH2, in mesenchymal stem cells","volume":"291","author":"Akpa","year":"2016","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.pathol.2017.12.341_bib24","doi-asserted-by":"crossref","first-page":"1839","DOI":"10.1101\/gad.220102","article-title":"The Wilms tumor suppressor WT1 regulates early gonad development by activation of Sf1","volume":"16","author":"Wilhelm","year":"2002","journal-title":"Genes Dev"},{"key":"10.1016\/j.pathol.2017.12.341_bib25","doi-asserted-by":"crossref","first-page":"3429","DOI":"10.1093\/hmg\/ddp283","article-title":"A\u00a0cell-autonomous role for WT1 in regulating Sry in\u00a0vivo","volume":"18","author":"Bradford","year":"2009","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.pathol.2017.12.341_bib26","first-page":"1884","article-title":"Hypospadias and genes related to genital tubercle and early urethral development","volume":"190","author":"Carmichael","year":"2013","journal-title":"J\u00a0Urol"},{"key":"10.1016\/j.pathol.2017.12.341_bib27","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1038\/ng.3063","article-title":"Genome-wide association analyses identify variants in developmental genes associated with hypospadias","volume":"46","author":"Geller","year":"2014","journal-title":"Nat Genet"},{"key":"10.1016\/j.pathol.2017.12.341_bib28","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1007\/s002400050088","article-title":"Screening for mutations in candidate genes for hypospadias","volume":"27","author":"Nordenskj\u00f6ld","year":"1999","journal-title":"Urol Res"},{"key":"10.1016\/j.pathol.2017.12.341_bib29","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1038\/sj.ejhg.5201232","article-title":"Mutation analysis of five candidate genes in Chinese patients with hypospadias","volume":"12","author":"Wang","year":"2004","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.pathol.2017.12.341_bib30","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1016\/0092-8674(90)90601-A","article-title":"Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus","volume":"60","author":"Call","year":"1990","journal-title":"Cell"},{"key":"10.1016\/j.pathol.2017.12.341_bib31","doi-asserted-by":"crossref","first-page":"868","DOI":"10.1038\/sj.leu.2404624","article-title":"A\u00a0tumor suppressor and oncogene: the WT1 story","volume":"21","author":"Yang","year":"2007","journal-title":"Leukemia"},{"key":"10.1016\/j.pathol.2017.12.341_bib32","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1530\/eje.0.1500825","article-title":"An N-terminal WT1 mutation (P181S) in an XY patient with ambiguous genitalia, normal testosterone production, absence of kidney disease and associated heart defect: enlarging the phenotypic spectrum of WT1 defects","volume":"150","author":"Kohler","year":"2004","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.pathol.2017.12.341_bib33","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1093\/nar\/28.1.352","article-title":"dbSNP: a database of single nucleotide polymorphisms","volume":"28","author":"Smigielski","year":"2000","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.pathol.2017.12.341_bib34","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1159\/000447167","article-title":"Nucleotide transition 390C-T in the Wilms' tumor 1 gene: a risk factor of hypospadias?","volume":"10","author":"Bugly\u00f3","year":"2017","journal-title":"Curr Urol"},{"key":"10.1016\/j.pathol.2017.12.341_bib35","doi-asserted-by":"crossref","first-page":"23456","DOI":"10.1074\/jbc.274.33.23456","article-title":"Internal translation initiation generates novel WT1 protein isoforms with distinct biological properties","volume":"274","author":"Scharnhorst","year":"1999","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.pathol.2017.12.341_bib36","doi-asserted-by":"crossref","first-page":"1653","DOI":"10.1242\/jcs.00405","article-title":"The complex life of WT1","volume":"116","author":"Wagner","year":"2003","journal-title":"J\u00a0Cell Sci"},{"key":"10.1016\/j.pathol.2017.12.341_bib37","doi-asserted-by":"crossref","first-page":"14398","DOI":"10.1074\/jbc.M314155200","article-title":"A\u00a0WT1 co-regulator controls podocyte phenotype by shuttling between adhesion structures and nucleus","volume":"279","author":"Srichai","year":"2004","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.pathol.2017.12.341_bib38","doi-asserted-by":"crossref","first-page":"2231","DOI":"10.1093\/oxfordjournals.hmg.a018914","article-title":"Identification of WTAP, a novel Wilms' tumour 1-associating protein","volume":"9","author":"Little","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.pathol.2017.12.341_bib39","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1038\/ejhg.2012.19","article-title":"19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias","volume":"20","author":"Gana","year":"2012","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.pathol.2017.12.341_bib40","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1080\/00365590310014517","article-title":"Exclusion of WTAP and HOXA13 as candidate genes for isolated hypospadias","volume":"37","author":"Utsch","year":"2003","journal-title":"Scand J Urol Nephrol"},{"key":"10.1016\/j.pathol.2017.12.341_bib41","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1067\/mpd.2001.112512","article-title":"Germline Wilms tumor suppressor gene (WT1) mutation leading to isolated genital malformation without Wilms tumor or nephropathy","volume":"138","author":"K\u00f6hler","year":"2001","journal-title":"J\u00a0Pediatr"},{"key":"10.1016\/j.pathol.2017.12.341_bib42","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/S0303-7207(01)00631-1","article-title":"Clinical and molecular evidence for the role of androgens and WT1 in testis descent","volume":"185","author":"Lim","year":"2001","journal-title":"Mol Cell Endocrinol"},{"key":"10.1016\/j.pathol.2017.12.341_bib43","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1677\/JME-06-0020","article-title":"Coexpression of Wilms' tumor suppressor 1 (WT1) and androgen receptor (AR) in the genital tract of human male embryos and regulation of AR promoter activity by WT1","volume":"38","author":"Kohler","year":"2007","journal-title":"J\u00a0Mol Endocrinol"},{"key":"10.1016\/j.pathol.2017.12.341_bib44","doi-asserted-by":"crossref","first-page":"1071","DOI":"10.1016\/j.ydbio.2010.05.495","article-title":"Comparative gene expression analysis of genital tubercle development reveals a putative appendicular Wnt7 network for the epidermal differentiation","volume":"344","author":"Chiu","year":"2010","journal-title":"Dev Biol"},{"key":"10.1016\/j.pathol.2017.12.341_bib45","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/17068","article-title":"Female development in mammals is regulated by Wnt-4 signalling","volume":"397","author":"Vainio","year":"1999","journal-title":"Nature"},{"key":"10.1016\/j.pathol.2017.12.341_bib46","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1016\/j.ydbio.2012.06.009","article-title":"Testis development requires the repression of Wnt4 by Fgf signaling","volume":"370","author":"Jameson","year":"2012","journal-title":"Dev Biol"},{"key":"10.1016\/j.pathol.2017.12.341_bib47","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1210\/me.2008-0478","article-title":"Genetic interactions of the androgen and Wnt\/\u03b2-catenin pathways for the masculinization of external genitalia","volume":"23","author":"Miyagawa","year":"2009","journal-title":"Mol Endocrinol"},{"key":"10.1016\/j.pathol.2017.12.341_bib48","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1016\/j.devcel.2011.07.014","article-title":"A\u00a0Wt1-controlled chromatin switching mechanism underpins tissue-specific Wnt4 activation and repression","volume":"21","author":"Essafi","year":"2011","journal-title":"Dev Cell"},{"key":"10.1016\/j.pathol.2017.12.341_bib49","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/j.mce.2015.01.009","article-title":"Steroidogenic organ development and homeostasis: a WT1-centric view","volume":"408","author":"Bandiera","year":"2015","journal-title":"Mol Cell Endocrinol"},{"key":"10.1016\/j.pathol.2017.12.341_bib50","doi-asserted-by":"crossref","first-page":"249","DOI":"10.4103\/0970-1591.40623","article-title":"Effect of hypospadias on sexual function and reproduction","volume":"24","author":"Singh","year":"2008","journal-title":"Indian J Urol"},{"key":"10.1016\/j.pathol.2017.12.341_bib51","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1093\/humupd\/dms002","article-title":"Aetiology of hypospadias: a systematic review of genes and environment","volume":"18","author":"van der Zanden","year":"2012","journal-title":"Hum Reprod Update"}],"container-title":["Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0031302517305226?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0031302517305226?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,21]],"date-time":"2025-09-21T16:23:41Z","timestamp":1758471821000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0031302517305226"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,6]]},"references-count":51,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2018,6]]}},"alternative-id":["S0031302517305226"],"URL":"https:\/\/doi.org\/10.1016\/j.pathol.2017.12.341","relation":{},"ISSN":["0031-3025"],"issn-type":[{"type":"print","value":"0031-3025"}],"subject":[],"published":{"date-parts":[[2018,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The Wilms' tumour 1 gene as a factor in non-syndromic hypospadias: evidence and controversy","name":"articletitle","label":"Article Title"},{"value":"Pathology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.pathol.2017.12.341","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Royal College of Pathologists of Australasia. Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}