{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T12:17:36Z","timestamp":1774613856045,"version":"3.50.1"},"reference-count":37,"publisher":"Public Library of Science (PLoS)","issue":"3","license":[{"start":{"date-parts":[[2014,3,7]],"date-time":"2014-03-07T00:00:00Z","timestamp":1394150400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0091010","type":"journal-article","created":{"date-parts":[[2014,3,7]],"date-time":"2014-03-07T21:29:55Z","timestamp":1394227795000},"page":"e91010","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":27,"title":["Gene Expression Profile of Patients with Mayer-Rokitansky-K\u00fcster-Hauser Syndrome: New Insights into the Potential Role of Developmental Pathways"],"prefix":"10.1371","volume":"9","author":[{"given":"Cristina","family":"Nodale","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simona","family":"Ceccarelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariateresa","family":"Giuliano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcella","family":"Cammarota","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sirio","family":"D\u2019Amici","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enrica","family":"Vescarelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diana","family":"Maffucci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Filippo","family":"Bellati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierluigi Benedetti","family":"Panici","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ferdinando","family":"Romano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Angeloni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cinzia","family":"Marchese","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2014,3,7]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1016\/S0022-3476(79)80514-4","article-title":"The MURCS association: M\u00fcllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia","volume":"95","author":"PA Duncan","year":"1979","journal-title":"J Pediatr"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1007\/s00508-008-0995-4","article-title":"Genetic analyses in a variant of Mayer-Rokitansky-Kuster-Hauser syndrome (MURCS association)","volume":"120","author":"G Hofstetter","year":"2008","journal-title":"Wien Klin Wochenschr"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1387\/ijdb.082680jm","article-title":"The developing female genital tract: from genetics to epigenetics","volume":"53","author":"J Mass\u00e9","year":"2009","journal-title":"Int J Dev Biol"},{"key":"ref4","first-page":"38","article-title":"Atypical forms of the Mayer- Rokitansky-5. K\u00fcster-syndrome","volume":"37","author":"I Schmid-Tannwald","year":"1977","journal-title":"Geburtshilfe Frauenheilkd"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1093\/humrep\/deh547","article-title":"DNA sequence variations of the entire anti-Mullerian hormone (AMH) gene promoter and AMH protein expression in patients with the Mayer-Rokitanski-Kuster-Hauser syndrome","volume":"20","author":"P Oppelt","year":"2005","journal-title":"Hum Reprod"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1186\/1750-1172-6-32","article-title":"A combination of transcriptome and methylation analyses reveals embryologically-relevant candidate genes in MRKH patients","volume":"6","author":"K Rall","year":"2011","journal-title":"Orphanet J Rare Dis"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"e73","DOI":"10.1016\/j.jpag.2008.07.012","article-title":"Discordance in Mayer-von Rokitansky-K\u00fcster-Hauser Syndrome noted in monozygotic twins","volume":"22","author":"UA Duru","year":"2009","journal-title":"J Pediatr Adolesc Gynecol"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"224","DOI":"10.7326\/0003-4819-85-2-224","article-title":"Congenital absence of the vagina. The Mayer-Rokitansky-Kuster-Hauser syndrome","volume":"85","author":"JE Griffin","year":"1976","journal-title":"Ann Intern Med"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"1604","DOI":"10.1016\/j.fertnstert.2008.12.006","article-title":"Mutational analysis of the WNT gene family in women with Mayer-Rokitansky-Kuster-Hauser syndrome","volume":"91","author":"C Ravel","year":"2009","journal-title":"Fertil Steril"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1016\/j.rbmo.2012.03.008","article-title":"Mutations in WNT4 are not responsible for M\u00fcllerian duct abnormalities in Chinese women","volume":"24","author":"X Chang","year":"2012","journal-title":"Reprod Biomed Online"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1093\/humrep\/del360","article-title":"WNT4 deficiency-a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report","volume":"22","author":"A Biason-Lauber","year":"2007","journal-title":"Hum Reprod"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1210\/jc.2007-2023","article-title":"Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and m\u00fcllerian duct abnormalities: a French collaborative study","volume":"93","author":"P Philibert","year":"2008","journal-title":"J Clin Endocrinol Metab"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/1477-5751-5-4","article-title":"Role of HOXA7 to HOXA13 and PBX1 genes in various forms of MRKH syndrome (congenital absence of uterus and vagina)","volume":"5","author":"A Burel","year":"2006","journal-title":"J Negat Results Biomed"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1186\/1750-1172-4-25","article-title":"Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports","volume":"4","author":"L Bernardini","year":"2009","journal-title":"Orphanet J Rare Dis"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1186\/1750-1172-6-9","article-title":"Utero-vaginal aplasia (Mayer-Rokitansky-K\u00fcster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci","volume":"6","author":"K Morcel","year":"2011","journal-title":"Orphanet J Rare Dis"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1186\/1750-1172-2-13","article-title":"Mayer-Rokitansky-K\u00fcster-Hauser (MRKH) syndrome","volume":"2","author":"K Morcel","year":"2007","journal-title":"Orphanet J Rare Dis"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"1589","DOI":"10.1016\/j.fertnstert.2010.07.1062","article-title":"Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-K\u00fcster-Hauser syndrome","volume":"95","author":"S Ledig","year":"2011","journal-title":"Fertil Steril"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"634","DOI":"10.1097\/GIM.0b013e3181ed6185","article-title":"SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome","volume":"12","author":"C Gervasini","year":"2010","journal-title":"Genet Med"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1093\/bioinformatics\/19.2.295","article-title":"Matrix2png: A Utility for Visualizing Matrix Data","volume":"19","author":"P Pavlidis","year":"2003","journal-title":"Bioinformatics"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1186\/1471-2164-9-488","article-title":"BioVenn - a web application for the comparison and visualization of biological lists using area-proportional Venn diagrams","volume":"9","author":"T Hulsen","year":"2008","journal-title":"BMC Genomics"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"702","DOI":"10.4161\/cbt.2.6.610","article-title":"MUC1 cytoplasmic domain coactivates Wnt target gene transcription and confers transformation","volume":"2","author":"L Huang","year":"2003","journal-title":"Cancer Biol Ther"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"10413","DOI":"10.1158\/0008-5472.CAN-05-2474","article-title":"MUC1 oncoprotein blocks glycogen synthase kinase 3beta-mediated phosphorylation and degradation of beta-catenin","volume":"65","author":"L Huang","year":"2005","journal-title":"Cancer Res"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"26511","DOI":"10.1074\/jbc.M300804200","article-title":"Synergistic cooperation between the beta-catenin signaling pathway and steroidogenic factor 1 in the activation of the Mullerian inhibiting substance type II receptor","volume":"278","author":"A Hossain","year":"2003","journal-title":"J Biol Chem"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"3349","DOI":"10.1242\/dev.127.15.3349","article-title":"Molecular mechanisms of hormone-mediated M\u00fcllerian duct regression: involvement of beta-catenin","volume":"127","author":"S Allard","year":"2000","journal-title":"Development"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1016\/j.ydbio.2005.09.015","article-title":"Subdividing the embryo: a role for Notch signaling during germ layer patterning in Xenopus laevis","volume":"288","author":"SP Contakos","year":"2005","journal-title":"Dev Biol"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1093\/toxsci\/kfg096","article-title":"Altered gene expression during rat Wolffian duct development in response to in utero exposure to the antiandrogen linuron","volume":"74","author":"KJ Turner","year":"2003","journal-title":"Toxicol Sci"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1038\/ng0797-243","article-title":"Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1","volume":"16","author":"L Li","year":"1997","journal-title":"Nat Genet"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1038\/ng0797-235","article-title":"Mutations in the human Jagged1 gene are responsible for Alagille syndrome","volume":"16","author":"T Oda","year":"1997","journal-title":"Nat Genet"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1097\/01.blo.0000130267.49895.20","article-title":"Klippel-Feil syndrome: clinical features and current understanding of etiology","volume":"424","author":"MR Tracy","year":"2004","journal-title":"Clin Orthop Relat Res"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1038\/74307","article-title":"Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis","volume":"24","author":"MP Bulman","year":"2000","journal-title":"Nat Genet"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1016\/0002-9378(74)90565-1","article-title":"Absent vagina and the Klippel-Feil anomaly","volume":"118","author":"PA Baird","year":"1974","journal-title":"Am J Obstet Gynecol"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1016\/j.jpag.2011.08.003","article-title":"Vaginal agenesis, the hymen, and associated anomalies","volume":"25","author":"N Kimberley","year":"2012","journal-title":"J Pediatr Adolesc Gynecol"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"6315","DOI":"10.1073\/pnas.0813221106","article-title":"Jagged1 is the pathological link between Wnt and Notch pathways in colorectal cancer","volume":"106","author":"V Rodilla","year":"2009","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1007\/s00535-007-2087-z","article-title":"Crosstalk between Wnt and Notch signaling in intestinal epithelial cell fate decision","volume":"42","author":"T Nakamura","year":"2007","journal-title":"J Gastroenterol"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"3248","DOI":"10.1172\/JCI61216","article-title":"Notch1 counteracts WNT\/\u03b2-catenin signaling through chromatin modification in colorectal cancer","volume":"122","author":"HA Kim","year":"2012","journal-title":"J Clin Invest"},{"key":"ref36","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1196\/annals.1346.046","article-title":"Multiple roles of hoxc8 in skeletal development","volume":"1068","author":"AH Juan","year":"2006","journal-title":"Ann N Y Acad Sci"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1002\/ar.a.20160","article-title":"Dynamic expression pattern of Hoxc8 during mouse early embryogenesis","volume":"283","author":"Y Kwon","year":"2005","journal-title":"Anat Rec A Discov Mol Cell Evol Biol"}],"container-title":["PLoS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0091010","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,3,29]],"date-time":"2022-03-29T04:28:11Z","timestamp":1648528091000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0091010"}},"subtitle":[],"editor":[{"given":"Monica","family":"Miozzo","sequence":"first","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2014,3,7]]},"references-count":37,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2014,3,7]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0091010","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,3,7]]}}}