{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T06:07:57Z","timestamp":1779170877691,"version":"3.51.4"},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T00:00:00Z","timestamp":1779062400000},"content-version":"vor","delay-in-days":137,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["U24A20651"],"award-info":[{"award-number":["U24A20651"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82270415"],"award-info":[{"award-number":["82270415"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>\n                    Loeys\u2013Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder characterized by aggressive aortic pathology, primarily caused by pathogenic variants in genes such as\n                    <jats:italic>TGFBR1<\/jats:italic>\n                    . We report a 44\u2010year\u2010old female with a known LDS diagnosis who presented with a symptomatic, rapidly expanding abdominal aortic aneurysm (44.8\u2009mm) with concurrent iliac and renal artery involvement. Given the high rupture risk, she underwent open abdominal aortic reconstruction. However, she subsequently developed a Type B aortic dissection nearly 2 months after the initial repair, necessitating a second open thoracic surgery. Whole\u2010exome sequencing confirmed a novel, de novo heterozygous missense variant in the\n                    <jats:italic>TGFBR1<\/jats:italic>\n                    gene: c.1051G&gt;T (p.Asp351Tyr), located within the highly conserved kinase domain and classified as likely pathogenic. Structural modeling suggested that this variant enhances binding affinity to SMAD2, and immunohistochemistry of the patient\u2032s aortic tissue confirmed hyperactivation of the TGF\u2010\n                    <jats:italic>\u03b2<\/jats:italic>\n                    pathway via increased SMAD2\/SMAD3 phosphorylation. This case expands the pathogenic variant spectrum of\n                    <jats:italic>TGFBR1<\/jats:italic>\n                    \u2010related LDS. Furthermore, it provides valuable clinical insights into the management of abdominal aortic aneurysms in LDS, suggesting that symptoms and rapid growth may warrant surgical intervention before conventional diameter thresholds are met. It also serves as a stark reminder of the residual vascular fragility, reinforcing the need for lifelong, whole\u2010body vascular surveillance.\n                  <\/jats:p>","DOI":"10.1155\/humu\/2951304","type":"journal-article","created":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T05:34:27Z","timestamp":1779168867000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Type B Aortic Dissection Following Abdominal Aortic Aneurysm Repair in Loeys\u2013Dietz Syndrome: A Novel\n                    <i>TGFBR1<\/i>\n                    Variant"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-2561-8175","authenticated-orcid":false,"given":"Yuchong","family":"Zhang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9120-1710","authenticated-orcid":false,"given":"Shouji","family":"Qiu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chengkai","family":"Hu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9924-638X","authenticated-orcid":false,"given":"Wei","family":"Guo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-2396-0114","authenticated-orcid":false,"given":"Weiguo","family":"Fu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1379-3906","authenticated-orcid":false,"given":"Lixin","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,5,18]]},"reference":[{"key":"e_1_2_12_1_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1511"},{"key":"e_1_2_12_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2022.05.065"},{"key":"e_1_2_12_3_2","doi-asserted-by":"publisher","DOI":"10.21037\/acs.2017.11.03"},{"key":"e_1_2_12_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2025.04.023"},{"key":"e_1_2_12_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2022.08.004"},{"key":"e_1_2_12_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41392-024-01764-w"},{"key":"e_1_2_12_7_2","doi-asserted-by":"publisher","DOI":"10.3389\/fphar.2022.888563"},{"key":"e_1_2_12_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejvs.2025.01.033"},{"key":"e_1_2_12_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-024-07487-w"},{"key":"e_1_2_12_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_12_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btv195"},{"key":"e_1_2_12_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_12_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2025.133477"},{"key":"e_1_2_12_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41439-019-0038-x"},{"key":"e_1_2_12_15_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms19072125"},{"key":"e_1_2_12_16_2","doi-asserted-by":"publisher","DOI":"10.3390\/genes16040357"},{"key":"e_1_2_12_17_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.125.326230"},{"key":"e_1_2_12_18_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.121.054744"},{"key":"e_1_2_12_19_2","doi-asserted-by":"publisher","DOI":"10.1161\/jaha.120.019276"},{"key":"e_1_2_12_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejvs.2023.11.002"},{"key":"e_1_2_12_21_2","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehae179"},{"key":"e_1_2_12_22_2","doi-asserted-by":"publisher","DOI":"10.1038\/aps.2017.212"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/humu\/2951304","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/humu\/2951304","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/humu\/2951304","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T05:34:34Z","timestamp":1779168874000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/humu\/2951304"}},"subtitle":[],"editor":[{"given":"Finlay","family":"Macrae","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":22,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1155\/humu\/2951304"],"URL":"https:\/\/doi.org\/10.1155\/humu\/2951304","archive":["Portico"],"relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"2025-09-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-05-02","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-05-18","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"2951304"}}