{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T11:20:43Z","timestamp":1790680843035,"version":"4.1.0"},"reference-count":88,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2021,5,21]],"date-time":"2021-05-21T00:00:00Z","timestamp":1621555200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004271","name":"Sapienza Universit\u00e0 di Roma","doi-asserted-by":"publisher","award":["RM11916B7040B1F8"],"award-info":[{"award-number":["RM11916B7040B1F8"]}],"id":[{"id":"10.13039\/501100004271","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004271","name":"Sapienza Universit\u00e0 di Roma","doi-asserted-by":"publisher","award":["RM1201729DF399F4"],"award-info":[{"award-number":["RM1201729DF399F4"]}],"id":[{"id":"10.13039\/501100004271","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003407","name":"Ministero dell\u2019Istruzione, dell\u2019Universit\u00e0 e della Ricerca","doi-asserted-by":"publisher","award":["F8ZB89"],"award-info":[{"award-number":["F8ZB89"]}],"id":[{"id":"10.13039\/501100003407","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biology"],"abstract":"<jats:p>Mayer\u2013Rokitansky\u2013K\u00fcster\u2013Hauser (MRKH) syndrome is a rare and complex disease defined by congenital aplasia of the vagina and uterus in 46,XX women, often associated with kidney and urinary tract anomalies. The aetiopathogenesis of MRKH syndrome is still largely unknown. Herein, we investigated the role of selected candidate genes in the aetiopathogenesis of MRKH syndrome, with a focus on PRKX, which encodes for protein kinase X. Through RT-qPCR analyses performed on vaginal dimple samples from patients, and principal component analysis (PCA), we highlighted a phenotype-related expression pattern of PRKX, MUC1, HOXC8 and GREB1L in MRKH patients. By using an in vitro approach, we proved that PRKX ectopic overexpression in a cell model of vaginal keratinocytes promotes cell motility through epithelial-to-mesenchymal transition (EMT) activation, a fundamental process in urogenital tract morphogenesis. Moreover, our findings showed that PRKX upregulation in vaginal keratinocytes is able to affect transcriptional levels of HOX genes, implicated in urinary and genital tract development. Our study identified the dysregulation of PRKX expression as a possible molecular cause for MRKH syndrome. Moreover, we propose the specific role of PRKX in vaginal keratinocyte biology as one of the possible mechanisms underlying this complex disease.<\/jats:p>","DOI":"10.3390\/biology10060450","type":"journal-article","created":{"date-parts":[[2021,5,21]],"date-time":"2021-05-21T02:13:46Z","timestamp":1621563226000},"page":"450","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Altered Expression of Candidate Genes in Mayer\u2013Rokitansky\u2013K\u00fcster\u2013Hauser Syndrome May Influence Vaginal Keratinocytes Biology: A Focus on Protein Kinase X"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2392-3775","authenticated-orcid":false,"given":"Paola","family":"Pontecorvi","sequence":"first","affiliation":[{"name":"Department of Experimental Medicine, Sapienza University of Rome\u2014Viale Regina Elena 324, 00161 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3705-3248","authenticated-orcid":false,"given":"Francesca","family":"Megiorni","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, Sapienza University of Rome\u2014Viale Regina Elena 324, 00161 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8286-3640","authenticated-orcid":false,"given":"Simona","family":"Camero","sequence":"additional","affiliation":[{"name":"Department of Maternal and Child Health and Urological Sciences, Sapienza University of Rome\u2014Viale Regina Elena 324, 00161 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8789-7719","authenticated-orcid":false,"given":"Simona","family":"Ceccarelli","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, Sapienza University of Rome\u2014Viale Regina Elena 324, 00161 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3554-2817","authenticated-orcid":false,"given":"Laura","family":"Bernardini","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza Foundation-Viale Cappuccini, 1, 71013 San Giovanni Rotondo (FG), Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Capalbo","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza Foundation-Viale Cappuccini, 1, 71013 San Giovanni Rotondo (FG), Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0212-6734","authenticated-orcid":false,"given":"Eleni","family":"Anastasiadou","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, Sapienza University of Rome\u2014Viale Regina Elena 324, 00161 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Gerini","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, Sapienza University of Rome\u2014Viale Regina Elena 324, 00161 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7182-2883","authenticated-orcid":false,"given":"Elena","family":"Messina","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, Sapienza University of Rome\u2014Viale Regina Elena 324, 00161 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgia","family":"Perniola","sequence":"additional","affiliation":[{"name":"Department of Maternal and Child Health and Urological Sciences, Sapienza University of Rome\u2014Viale Regina Elena 324, 00161 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierluigi","family":"Benedetti Panici","sequence":"additional","affiliation":[{"name":"Department of Maternal and Child Health and Urological Sciences, Sapienza University of Rome\u2014Viale Regina Elena 324, 00161 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6864-2574","authenticated-orcid":false,"given":"Paola","family":"Grammatico","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Molecular Medicine, Sapienza University of Rome-San Camillo-Forlanini Hospital, Circonvallazione Gianicolense, 87, 00152 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Pizzuti","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, Sapienza University of Rome\u2014Viale Regina Elena 324, 00161 Rome, Italy"},{"name":"Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza Foundation-Viale Cappuccini, 1, 71013 San Giovanni Rotondo (FG), Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9280-8917","authenticated-orcid":false,"given":"Cinzia","family":"Marchese","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, Sapienza University of Rome\u2014Viale Regina Elena 324, 00161 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,5,21]]},"reference":[{"key":"ref_1","unstructured":"Knobil, E., and Neil, J. 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