{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T02:22:40Z","timestamp":1760149360951,"version":"build-2065373602"},"reference-count":24,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2023,7,28]],"date-time":"2023-07-28T00:00:00Z","timestamp":1690502400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Potishman Foundation","award":["02"],"award-info":[{"award-number":["02"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Life"],"abstract":"<jats:p>Thoracic aortic aneurysms are clinical conditions that are associated with severe clinical endpoints including dissection and rupture, potentially leading to sudden death. Contrary to their abdominal counterparts, thoracic aortic aneurysms are well-recognized to have a genetic basis underlying their development. Among all patients with aneurysmal disease who underwent clinical genetic screening in our program (N = 145), two patients were found to have variants of uncertain significance (VUS) in the PRDM5 gene. This gene is responsible for multiple regulatory functions in extracellular matrix development, and this is the first report, to our knowledge, to associate this gene with aortopathy.<\/jats:p>","DOI":"10.3390\/life13081649","type":"journal-article","created":{"date-parts":[[2023,7,28]],"date-time":"2023-07-28T07:35:24Z","timestamp":1690529724000},"page":"1649","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["The Association of Novel Single-Nucleotide Variants in the Collagen Matrix-Encoding Gene PRDM5 with Aortic Aneurysmal Disease"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-6542-0746","authenticated-orcid":false,"given":"Peyton","family":"Moore","sequence":"first","affiliation":[{"name":"Sathyamoorthy Laboratory, Department of Medicine, Anne Burnett Marion School of Medicine at TCU, Fort Worth, TX 76123, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adam","family":"Wolf","sequence":"additional","affiliation":[{"name":"Sathyamoorthy Laboratory, Department of Medicine, Anne Burnett Marion School of Medicine at TCU, Fort Worth, TX 76123, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1686-9264","authenticated-orcid":false,"given":"Mohanakrishnan","family":"Sathyamoorthy","sequence":"additional","affiliation":[{"name":"Sathyamoorthy Laboratory, Department of Medicine, Anne Burnett Marion School of Medicine at TCU, Fort Worth, TX 76123, USA"},{"name":"Consultants in Cardiovascular Medicine and Science\u2014Fort Worth (CCMS-FW), 1121 5th Avenue, Suite 100, Fort Worth, TX 76104, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,7,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1016\/j.ccl.2021.06.003","article-title":"Thoracic Aortic Aneurysm: A Clinical Review","volume":"39","author":"Senser","year":"2021","journal-title":"Cardiol. 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(2023). The Novel Phenotype-to-Genotype Association of Novel Single-Nucleotide Variants in Exon 1 and Exon 2 of the Collagen Matrix-Encoding Gene ZNF469 to Arterial Aneurysmal and Dissection Diseases, manuscript in peer review."}],"container-title":["Life"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-1729\/13\/8\/1649\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T20:21:29Z","timestamp":1760127689000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-1729\/13\/8\/1649"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,28]]},"references-count":24,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2023,8]]}},"alternative-id":["life13081649"],"URL":"https:\/\/doi.org\/10.3390\/life13081649","relation":{},"ISSN":["2075-1729"],"issn-type":[{"type":"electronic","value":"2075-1729"}],"subject":[],"published":{"date-parts":[[2023,7,28]]}}}