{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T13:24:48Z","timestamp":1790774688096,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,12,16]],"date-time":"2019-12-16T00:00:00Z","timestamp":1576454400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100009448","name":"Universit\u00e0 degli Studi della Campania Luigi Vanvitelli","doi-asserted-by":"publisher","award":["04\/2017"],"award-info":[{"award-number":["04\/2017"]}],"id":[{"id":"10.13039\/501100009448","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003852","name":"Regione Campania","doi-asserted-by":"publisher","award":["POR\/2017"],"award-info":[{"award-number":["POR\/2017"]}],"id":[{"id":"10.13039\/501100003852","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molecular Reproduction Devel"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Myotonic dystrophy type 1 (DM1) is a multisystemic disorder caused by trinucleotide CTG expansion in\n                    <jats:italic>DMPK<\/jats:italic>\n                    gene, often affecting the neighboring genes. Endocrine system is involved, resulting in hypogonadism and reproductive abnormalities, but molecular mechanisms underlying the reduced fertility observed in DM1 are very complex and partially unknown. To better characterize these mechanisms, an analysis of sperm parameters and anti\u2010M\u00fcllerian hormone (AMH) values was performed in 20 DM1 patients. About 50% of them showed hypoposia and azoospermia; the remaining, despite an adequate volume of ejaculate, had oligo\u2010astheno\u2010teratozoospermia. Interestingly, the lowest AMH levels better correlated with the main sperm alterations. The pattern of expression of\n                    <jats:italic>DMPK, SIX5<\/jats:italic>\n                    , and\n                    <jats:italic>RSPH6A<\/jats:italic>\n                    genes, evaluated by quantitative reverse transcription polymerase chain reaction, showed a substantial reduction of the expression in both peripheral blood and in seminal plasma of patients, compared to controls. An impairment of testis\u2010specific RSPH6A protein expression and localization was observed in sperm protein extracts by WB analysis and in isolated spermatozoa by immunofluorescence. These results support the hypothesis that CTG expansion also affects the expression of neighboring genes and contributes to gonad defects observed in DM1, suggesting the possibility of using them as markers for normal fertility in humans.\n                  <\/jats:p>","DOI":"10.1002\/mrd.23307","type":"journal-article","created":{"date-parts":[[2019,12,16]],"date-time":"2019-12-16T03:46:31Z","timestamp":1576467991000},"page":"45-52","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Study of expression of genes potentially responsible for reduced fitness in patients with myotonic dystrophy type 1 and identification of new biomarkers of testicular function"],"prefix":"10.1002","volume":"87","author":[{"given":"Manuela","family":"Ergoli","sequence":"first","affiliation":[{"name":"Cardiomyology and Medical Genetics, Department of Experimental Medicine University of Campania \u201cLuigi Vanvitelli\u201d Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7357-5353","authenticated-orcid":false,"given":"Massimo","family":"Venditti","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine University of Campania, University of Campania \u201cLuigi Vanvitelli,\u201d Naples  Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Picillo","sequence":"additional","affiliation":[{"name":"Cardiomyology and Medical Genetics, Department of Experimental Medicine University of Campania \u201cLuigi Vanvitelli\u201d Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1007-7840","authenticated-orcid":false,"given":"Sergio","family":"Minucci","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine University of Campania, University of Campania \u201cLuigi Vanvitelli,\u201d Naples  Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0925-7158","authenticated-orcid":false,"given":"Luisa","family":"Politano","sequence":"additional","affiliation":[{"name":"Cardiomyology and Medical Genetics, Department of Experimental Medicine University of Campania \u201cLuigi Vanvitelli\u201d Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,12,16]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.221648"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/dew121"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(92)90154-5"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.2217\/epi.15.104"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13633-016-0038-2"},{"issue":"4","key":"e_1_2_7_7_1","first-page":"199","article-title":"Study of anti\u2010M\u00fcllerian hormone levels in patients with Myotonic Dystrophy Type 1. Preliminary results","volume":"36","author":"Ergoli M.","year":"2017","journal-title":"Acta Myologica"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.2001.4465"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.3109\/19396368.2016.1161864"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1155\/2013\/128907"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2014.05.019"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/eci.12459"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/biolre\/ioy202"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh161"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0000000000000128"},{"key":"e_1_2_7_16_1","first-page":"277","article-title":"DAAM1 and PREP are involved in human spermatogenesis","volume":"167","author":"Venditti M.","year":"2019","journal-title":"Reproduction, Fertility, and Development"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.crvi.2018.03.001"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1369\/0022155418810064"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.4111\/kju.2012.53.2.134"}],"container-title":["Molecular Reproduction and Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmrd.23307","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mrd.23307","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mrd.23307","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mrd.23307","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,7]],"date-time":"2023-09-07T15:47:04Z","timestamp":1694101624000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mrd.23307"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12,16]]},"references-count":18,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,1]]}},"alternative-id":["10.1002\/mrd.23307"],"URL":"https:\/\/doi.org\/10.1002\/mrd.23307","archive":["Portico"],"relation":{},"ISSN":["1040-452X","1098-2795"],"issn-type":[{"value":"1040-452X","type":"print"},{"value":"1098-2795","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,12,16]]},"assertion":[{"value":"2019-09-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-11-27","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-12-16","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}