{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T23:59:37Z","timestamp":1787961577230,"version":"build-2784847793"},"reference-count":20,"publisher":"Georg Thieme Verlag KG","issue":"08","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Metab Res"],"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cushing\u2019s disease (CD) is caused by rare pituitary corticotroph tumors\n                    that lead to corticotropin (ACTH) excess. Variants in FAF1, a\n                    pro-apoptotic protein involved in FAS-induced cell death, have been implicated\n                    in malignant disorders but the involvement of FAF1 in pituitary tumors\n                    has not been studied. Genetic data from patients with CD were reviewed for\n                    variants in FAF1 gene. Knockout mice (KO) were followed to assess the\n                    development of any pituitary disorder or cortisol excess. AtT-20 cells were used\n                    to study the effects of the variants of interest on ACTH secretion and cell\n                    proliferation. Three variants of interest were identified in 5 unique patients,\n                    two of which had rare allele frequency in genomic databases and were predicted\n                    to be likely pathogenic. KO mice were followed over time and no difference in\n                    their length\/weight was noted. Additionally, KO mice did not develop any\n                    pituitary lesions and retained similar corticosterone secretion with wild type.\n                    AtT-20 cells transfected with FAF1 variants of interest or WT expression\n                    plasmids showed no significant difference in cell death or Pomc gene expression.\n                    However, in silico prediction models suggested significant differences in\n                    secondary structures of the produced proteins. In conclusion, we identified two\n                        FAF1 variants in patients diagnosed with CD with a potential\n                    pathogenic effect on the protein function and structure. Our in vitro and in\n                    vivo studies did not reveal an association of FAF1 defects with pituitary\n                    tumorigenesis and further studies may be needed to understand any\n                    association.<\/jats:p>","DOI":"10.1055\/a-2192-1761","type":"journal-article","created":{"date-parts":[[2023,12,9]],"date-time":"2023-12-09T00:41:30Z","timestamp":1702082490000},"page":"604-610","source":"Crossref","is-referenced-by-count":1,"title":["FAF1 Gene Involvement in Pituitary Corticotroph\n                    Tumors"],"prefix":"10.1055","volume":"56","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4846-2058","authenticated-orcid":false,"given":"Matthew","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Unit on Hypothalamic and Pituitary Disorders, Eunice\n                    Kennedy Shriver National Institute of Child Health and\n                    Human Development (NICHD), National Institutes of\n                    Health, Bethesda, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea Gutierrez","family":"Maria","sequence":"additional","affiliation":[{"name":"Section on Molecular Dysmorphology, Eunice Kennedy\n                    Shriver National Institute of Child Health and Human\n                    Development (NICHD), National Institutes of Health,\n                    Bethesda, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabio R.","family":"Faucz","sequence":"additional","affiliation":[{"name":"Molecular Genomics Core (MGC), Eunice Kennedy Shriver\n                    National Institute of Child Health and Human Development\n                    (NICHD), National Institutes of Health, Bethesda,\n                    United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giampaolo","family":"Trivellin","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, Humanitas\n                    University, Pieve Emanuele \u2013 Milan, Italy"},{"name":"IRCCS Humanitas Research Hospital, Rozzano \u2013 Milan,\n                    Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4058-5520","authenticated-orcid":false,"given":"Constantine A.","family":"Stratakis","sequence":"additional","affiliation":[{"name":"Unit on Hypothalamic and Pituitary Disorders, Eunice\n                    Kennedy Shriver National Institute of Child Health and\n                    Human Development (NICHD), National Institutes of\n                    Health, Bethesda, United States"},{"name":"Human Genetics and Precision Medicine, IMBB, Heraklion,\n                    Greece"},{"name":"Research and Training, ELPEN Pharmaceuticals, Pikermi\n                    Attikis, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2882-4584","authenticated-orcid":false,"given":"Christina","family":"Tatsi","sequence":"additional","affiliation":[{"name":"Unit on Hypothalamic and Pituitary Disorders, Eunice\n                    Kennedy Shriver National Institute of Child Health and\n                    Human Development (NICHD), National Institutes of\n                    Health, Bethesda, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2023,12,8]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1007\/s12022-022-09703-7","article-title":"Overview of the 2022 WHO classification of pituitary tumors","volume":"33","author":"S L Asa","year":"2022","journal-title":"Endocr Pathol"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"30","DOI":"10.3390\/jcm9010030","article-title":"The genetics of pituitary 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Tissue-based map of the human proteome","volume":"347","author":"M Uhlen","year":"2015","journal-title":"Science"}],"container-title":["Hormone and Metabolic Research"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-2192-1761.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,5]],"date-time":"2024-11-05T16:29:08Z","timestamp":1730824148000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-2192-1761"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12,8]]},"references-count":20,"journal-issue":{"issue":"08","published-online":{"date-parts":[[2024,7,30]]},"published-print":{"date-parts":[[2024,8]]}},"URL":"https:\/\/doi.org\/10.1055\/a-2192-1761","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0018-5043","1439-4286"],"issn-type":[{"value":"0018-5043","type":"print"},{"value":"1439-4286","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,12,8]]}}}