{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T05:11:54Z","timestamp":1778130714078,"version":"3.51.4"},"reference-count":23,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2025,8,6]],"date-time":"2025-08-06T00:00:00Z","timestamp":1754438400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Perfusion"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Bicuspid aortic valve (BAV) is a common congenital cardiac malformation associated with significant morbidity, including aortic dissection and thoracic aortic aneurysms. The mechanisms underlying BAV-associated aortopathy are unknown. We aimed to identify methylation profiles in BAV patients with aortopathy and investigate associated genetic pathways.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Tissue samples from the ascending aorta were obtained from BAV patients undergoing thoracic aortic surgery. DNA methylation profiles were measured using Illumina human 850K array. Probe methylation associations were reviewed, and a regression model assessed associations with aortic dimension.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Eight patients were recruited from University Hospital Southampton. Analysis revealed HEATR5A, PHLDB2, ADAMTS17, BID, and TLK1 as significantly associated genes. These genes were implicated in aortic wall remodelling through novel mechanisms identified by an unbiased, integrated epigenomic approach.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This study provides novel insights into epigenetic regulation in BAV-associated aortopathy. Identified genes, including HEATR5A, PHLDB2, ADAMTS17, BID, and TLK1, may contribute to aortic disease in BAV patients. Further research is needed to elucidate their mechanisms and therapeutic potential. Our findings improve understanding of the molecular basis of BAV-associated aortopathy and may inform future diagnostic and therapeutic strategies.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/02676591251364499","type":"journal-article","created":{"date-parts":[[2025,8,7]],"date-time":"2025-08-07T02:52:46Z","timestamp":1754535166000},"page":"432-443","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Investigating the epigenetic basis for aortic aneurysm risk in patients with bicuspid aortic valve disease"],"prefix":"10.1177","volume":"41","author":[{"given":"Abdul","family":"Badran","sequence":"first","affiliation":[{"name":"University Hospital Southampton"},{"name":"University of Southampton"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3533-7661","authenticated-orcid":false,"given":"Christopher J","family":"Goulden","sequence":"additional","affiliation":[{"name":"University of Liverpool"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5507-5841","authenticated-orcid":false,"given":"Amer","family":"Harky","sequence":"additional","affiliation":[{"name":"Liverpool Heart and Chest Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Narain","family":"Moorjani","sequence":"additional","affiliation":[{"name":"Papworth Hospital"},{"name":"University of Cambridge"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sunil","family":"Ohri","sequence":"additional","affiliation":[{"name":"University Hospital Southampton"},{"name":"University of Southampton"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2025,8,6]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1093\/icvts\/ivt196"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jtcvs.2007.01.039"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1042\/CS20160222"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehu281"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-018-20642-4"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/cvr\/cvq291"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1097\/HCO.0000000000000328"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1097\/HCO.0000000000000481"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1532\/hsf.1247"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/cvr\/cvx050"},{"key":"e_1_3_3_12_2","unstructured":"Infinium MethylationEPIC v2. 0 Kit | Methylation profiling array for EWAS. https:\/\/www.illumina.com\/products\/by-type\/microarray-kits\/infinium-methylation-epic.html (Accessed 24 April 2023)."},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-60327-192-9_9"},{"key":"e_1_3_3_14_2","unstructured":"Administrator. EPIC array. https:\/\/www.cgs.path.cam.ac.uk\/arrays\/Epigenetics\/methylation (Accessed 24 April 2023)."},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btu049"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btw691"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkv007"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3273"},{"key":"e_1_3_3_19_2","doi-asserted-by":"publisher","DOI":"10.1161\/JAHA.112.005421"},{"key":"e_1_3_3_20_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.108.795401"},{"key":"e_1_3_3_21_2","doi-asserted-by":"publisher","DOI":"10.1038\/srep41871"},{"key":"e_1_3_3_22_2","doi-asserted-by":"publisher","DOI":"10.1159\/000358708"},{"key":"e_1_3_3_23_2","doi-asserted-by":"publisher","DOI":"10.1093\/ejcts\/ezw277"},{"key":"e_1_3_3_24_2","unstructured":"Gene: TLK1 (ENSG00000198586) - summary - Homo_sapiens - ensembl genome browser 109. https:\/\/www.ensembl.org\/Homo_sapiens\/Gene\/Summary?db=core;g=ENSG00000198586;r=2:170990823-171231314 (Accessed April 24 2023)."}],"container-title":["Perfusion"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/02676591251364499","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/02676591251364499","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/02676591251364499","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T04:23:37Z","timestamp":1778127817000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/02676591251364499"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,6]]},"references-count":23,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2026,5]]}},"alternative-id":["10.1177\/02676591251364499"],"URL":"https:\/\/doi.org\/10.1177\/02676591251364499","relation":{},"ISSN":["0267-6591","1477-111X"],"issn-type":[{"value":"0267-6591","type":"print"},{"value":"1477-111X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,8,6]]}}}