{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T15:39:31Z","timestamp":1791214771494,"version":"4.1.0"},"reference-count":14,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2011,11,1]],"date-time":"2011-11-01T00:00:00Z","timestamp":1320105600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2011,11,1]],"date-time":"2011-11-01T00:00:00Z","timestamp":1320105600000},"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","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2011,11]]},"DOI":"10.1016\/j.ejmg.2011.04.010","type":"journal-article","created":{"date-parts":[[2011,7,25]],"date-time":"2011-07-25T18:28:31Z","timestamp":1311618511000},"page":"e529-e534","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":51,"title":["Novel homozygous mutations in Desert Hedgehog gene in patients with 46,XY complete gonadal dysgenesis and prediction of its structural and functional implications by computational methods"],"prefix":"10.1016","volume":"54","author":[{"given":"Dhanjit Kumar","family":"Das","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daksha","family":"Sanghavi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harshavardhan","family":"Gawde","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Idicula-Thomas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lakshmi","family":"Vasudevan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2011.04.010_bib1","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1038\/346240a0","article-title":"A\u00a0gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif","volume":"346","author":"Sinclair","year":"1990","journal-title":"Nature"},{"key":"10.1016\/j.ejmg.2011.04.010_bib2","first-page":"979","article-title":"Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis","volume":"51","author":"Hawkins","year":"1992","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2011.04.010_bib3","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1007\/s00109-002-0376-9","article-title":"Novel mutations affecting SRY DNA binding activity: the HMG box N65H associated with 46, XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotype","volume":"80","author":"Assumpcao","year":"2002","journal-title":"J.\u00a0Mol. Med."},{"key":"10.1016\/j.ejmg.2011.04.010_bib4","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1590\/S0100-879X2004000100020","article-title":"Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients","volume":"37","author":"Domenice","year":"2004","journal-title":"Braz. J. Med. Biol. Res."},{"key":"10.1016\/j.ejmg.2011.04.010_bib5","doi-asserted-by":"crossref","first-page":"898","DOI":"10.1016\/j.ajhg.2010.11.003","article-title":"Mutations in MAP3K1 cause 46, XY disorders of sex development and implicate a common signal transduction pathway in human testis determination","volume":"10","author":"Pearlman","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2011.04.010_bib6","doi-asserted-by":"crossref","first-page":"24584","DOI":"10.1074\/jbc.M110.131680","article-title":"All mammalian Hedgehog proteins interact with cell adhesion molecule, down-regulated by oncogenes (CDO) and brother of CDO (BOC) in a conserved manner","volume":"285","author":"Kavran","year":"2010","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ejmg.2011.04.010_bib7","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1159\/000015495","article-title":"Assignment of desert hedgehog (DHH) to human chromosome bands 12q12 3 q13.1 by in situ hybridization","volume":"88","author":"Tate","year":"2000","journal-title":"Cytogenet. Cell Genet."},{"key":"10.1016\/j.ejmg.2011.04.010_bib8","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1016\/S0960-9822(02)00480-3","article-title":"Sertoli cell signaling by Desert Hedgehog regulates the male germline","volume":"6","author":"Bitgood","year":"1996","journal-title":"Curr. Biol."},{"key":"10.1016\/j.ejmg.2011.04.010_bib9","doi-asserted-by":"crossref","first-page":"1825","DOI":"10.1095\/biolreprod63.6.1825","article-title":"Desert Hedgehog (Dhh) gene is required in the mouse testis for formation of adult-type Leydig cells and normal development of peritubular cells and seminiferous tubules","volume":"63","author":"Clark","year":"2000","journal-title":"Biol. Reprod."},{"key":"10.1016\/j.ejmg.2011.04.010_bib10","doi-asserted-by":"crossref","first-page":"1433","DOI":"10.1101\/gad.981202","article-title":"Desert Hedgehog\/Patched 1 signaling specified fetal Leydig cell fate in testis organogenesis","volume":"16","author":"Yao","year":"2002","journal-title":"Genes Dev."},{"key":"10.1016\/j.ejmg.2011.04.010_bib11","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1095\/biolreprod.103.015941","article-title":"Emerging roles for hedgehog-patched-Gli signal transduction in reproduction","volume":"69","author":"Walterhouse","year":"2003","journal-title":"Biol. Reprod."},{"key":"10.1016\/j.ejmg.2011.04.010_bib12","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.ejmg.2011.04.010_bib13","doi-asserted-by":"crossref","first-page":"1302","DOI":"10.1086\/321210","article-title":"A\u00a0novel mutation of desert hedgehog in a patient with 46, XY partial gonadal dysgenesis accompanied by minifascicular neuropathy","volume":"67","author":"Umehara","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2011.04.010_bib14","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1093\/molehr\/gah216","article-title":"A\u00a0heterozygous mutation in the desert hedgehog- gene in patients with mixed gonadal dysgenesis","volume":"11","author":"Canto","year":"2005","journal-title":"Mol. Hum. Reprod."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721211000620?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721211000620?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:37:56Z","timestamp":1761709076000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721211000620"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,11]]},"references-count":14,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2011,11]]}},"alternative-id":["S1769721211000620"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2011.04.010","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2011,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Novel homozygous mutations in Desert Hedgehog gene in patients with 46,XY complete gonadal dysgenesis and prediction of its structural and functional implications by computational methods","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2011.04.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2011 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}