{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T03:13:30Z","timestamp":1787022810588,"version":"build-2736575974"},"reference-count":0,"publisher":"Oxford University Press (OUP)","issue":"6","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,12,1]]},"abstract":"<jats:p>\n                    Recent studies have shown a novel mechanism of combined pituitary hormone deficiency associated with mutations in\n                    <jats:italic>POU1F1<\/jats:italic>\n                    , altering the balance of alternative-splicing, which results in over-expression of the beta isoform of POU1F1. These studies underscore the need for biologists, in the context of routine molecular diagnosis of this condition, to investigate alternative splicing in\n                    <jats:italic>POU1F1<\/jats:italic>\n                    as well as in other genes.\n                  <\/jats:p>","DOI":"10.1530\/eje-21-0949","type":"journal-article","created":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T12:29:56Z","timestamp":1633091396000},"page":"C19-C25","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-7","source":"Crossref","is-referenced-by-count":6,"title":["Novel mechanism of pituitary hormone deficiency: genetic variants shift splicing to produce a dominant negative transcription factor isoform"],"prefix":"10.1093","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8482-6691","authenticated-orcid":true,"given":"Thierry","family":"Brue","sequence":"first","affiliation":[{"name":"1Assistance Publique-H\u00f4pitaux de Marseille (AP-HM), Department of Endocrinology, H\u00f4pital de la Conception, Centre de R\u00e9f\u00e9rence des Maladies Rares de l\u2019hypophyse HYPO, Marseille, France"},{"name":"2Aix-Marseille Universit\u00e9, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM), U1251, Marseille Medical Genetics (MMG), Institut Marseille Maladies Rares (MarMaRa), Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sally A","family":"Camper","sequence":"additional","affiliation":[{"name":"3Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","container-title":["European Journal of Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/185\/6\/EJE-21-0949.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/eje.bioscientifica.com\/downloadpdf\/journals\/eje\/185\/6\/EJE-21-0949.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T11:17:22Z","timestamp":1676373442000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ejendo\/article\/185\/6\/C19\/6654305"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12,1]]},"references-count":0,"journal-issue":{"issue":"6"},"URL":"https:\/\/doi.org\/10.1530\/eje-21-0949","relation":{},"ISSN":["0804-4643","1479-683X"],"issn-type":[{"value":"0804-4643","type":"print"},{"value":"1479-683X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,12,1]]}}}