{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T13:42:43Z","timestamp":1790516563469,"version":"4.1.0"},"reference-count":20,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Circ Cardiovasc Genet"],"published-print":{"date-parts":[[2011,2]]},"abstract":"<jats:sec>\n            <jats:title>Background\u2014<\/jats:title>\n            <jats:p>Thoracic aortic aneurysms leading to acute aortic dissections are the major diseases that affect the thoracic aorta. Approximately 20% of patients with thoracic aortic aneurysms and dissections (TAAD) have a family history of TAAD, and these patients present younger with more rapidly enlarging aneurysms than patients without a family history of aortic disease.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods and Results\u2014<\/jats:title>\n            <jats:p>A large family with multiple members with TAAD inherited in an autosomal-dominant manner was identified. The ascending aortic aneurysms were associated with slow enlargement, a low risk of dissection, and decreased penetrance in women. Genome-wide linkage analysis was performed, and a novel locus on chromosome 12 was identified for the mutant gene causing disease in this family. Of the 12 male members who carry the disease-linked microsatellite haplotype, 9 had ascending aortic aneurysms with an average diameter of 4.7 cm at an average age of 52.4 years (range, 32 to 76 years) at the time of diagnosis; only 1 individual had progressed to acute aortic dissection, and no other members with aortic dissections were identified. Women harboring the disease-linked haplotype did not have thoracic aortic disease, including 1 aged 84 years. Sequencing of 9 genes within the critical interval at the chromosome 12 locus did not identify the mutant gene.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions\u2014<\/jats:title>\n            <jats:p>Mapping a locus for ascending thoracic aortic aneurysms associated with a low risk of aortic dissection supports our hypothesis that genes leading to familial disease can be associated with less-aggressive thoracic aortic disease.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1161\/circgenetics.110.958066","type":"journal-article","created":{"date-parts":[[2010,12,17]],"date-time":"2010-12-17T03:25:25Z","timestamp":1292556325000},"page":"36-42","source":"Crossref","is-referenced-by-count":46,"title":["Familial Thoracic Aortic Aneurysms and Dissections"],"prefix":"10.1161","volume":"4","author":[{"given":"Dong-Chuan","family":"Guo","sequence":"first","affiliation":[{"name":"From the University of Texas Health Science Center at Houston (D.-C.G., C.M., V.T., E.S.R, J. Coney, J. Cao, M.W., A.L.E., H.J.S., D.M.M.) and University of Texas M.D. Anderson Cancer Center (R.K.Y., S.S.S.), Houston, TX."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellen S.","family":"Regalado","sequence":"additional","affiliation":[{"name":"From the University of Texas Health Science Center at Houston (D.-C.G., C.M., V.T., E.S.R, J. Coney, J. Cao, M.W., A.L.E., H.J.S., D.M.M.) and University of Texas M.D. Anderson Cancer Center (R.K.Y., S.S.S.), Houston, TX."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles","family":"Minn","sequence":"additional","affiliation":[{"name":"From the University of Texas Health Science Center at Houston (D.-C.G., C.M., V.T., E.S.R, J. Coney, J. Cao, M.W., A.L.E., H.J.S., D.M.M.) and University of Texas M.D. Anderson Cancer Center (R.K.Y., S.S.S.), Houston, TX."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Van","family":"Tran-Fadulu","sequence":"additional","affiliation":[{"name":"From the University of Texas Health Science Center at Houston (D.-C.G., C.M., V.T., E.S.R, J. Coney, J. Cao, M.W., A.L.E., H.J.S., D.M.M.) and University of Texas M.D. Anderson Cancer Center (R.K.Y., S.S.S.), Houston, TX."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua","family":"Coney","sequence":"additional","affiliation":[{"name":"From the University of Texas Health Science Center at Houston (D.-C.G., C.M., V.T., E.S.R, J. Coney, J. Cao, M.W., A.L.E., H.J.S., D.M.M.) and University of Texas M.D. Anderson Cancer Center (R.K.Y., S.S.S.), Houston, TX."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiumei","family":"Cao","sequence":"additional","affiliation":[{"name":"From the University of Texas Health Science Center at Houston (D.-C.G., C.M., V.T., E.S.R, J. Coney, J. Cao, M.W., A.L.E., H.J.S., D.M.M.) and University of Texas M.D. Anderson Cancer Center (R.K.Y., S.S.S.), Houston, TX."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Wang","sequence":"additional","affiliation":[{"name":"From the University of Texas Health Science Center at Houston (D.-C.G., C.M., V.T., E.S.R, J. Coney, J. Cao, M.W., A.L.E., H.J.S., D.M.M.) and University of Texas M.D. Anderson Cancer Center (R.K.Y., S.S.S.), Houston, TX."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert K.","family":"Yu","sequence":"additional","affiliation":[{"name":"From the University of Texas Health Science Center at Houston (D.-C.G., C.M., V.T., E.S.R, J. Coney, J. Cao, M.W., A.L.E., H.J.S., D.M.M.) and University of Texas M.D. Anderson Cancer Center (R.K.Y., S.S.S.), Houston, TX."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony L.","family":"Estrera","sequence":"additional","affiliation":[{"name":"From the University of Texas Health Science Center at Houston (D.-C.G., C.M., V.T., E.S.R, J. Coney, J. Cao, M.W., A.L.E., H.J.S., D.M.M.) and University of Texas M.D. Anderson Cancer Center (R.K.Y., S.S.S.), Houston, TX."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hazim J.","family":"Safi","sequence":"additional","affiliation":[{"name":"From the University of Texas Health Science Center at Houston (D.-C.G., C.M., V.T., E.S.R, J. Coney, J. Cao, M.W., A.L.E., H.J.S., D.M.M.) and University of Texas M.D. Anderson Cancer Center (R.K.Y., S.S.S.), Houston, TX."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanjay S.","family":"Shete","sequence":"additional","affiliation":[{"name":"From the University of Texas Health Science Center at Houston (D.-C.G., C.M., V.T., E.S.R, J. Coney, J. Cao, M.W., A.L.E., H.J.S., D.M.M.) and University of Texas M.D. Anderson Cancer Center (R.K.Y., S.S.S.), Houston, TX."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dianna M.","family":"Milewicz","sequence":"additional","affiliation":[{"name":"From the University of Texas Health Science Center at Houston (D.-C.G., C.M., V.T., E.S.R, J. Coney, J. Cao, M.W., A.L.E., H.J.S., D.M.M.) and University of Texas M.D. Anderson Cancer Center (R.K.Y., S.S.S.), Houston, TX."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIR.0b013e3181d4739e"},{"key":"e_1_3_4_3_2","doi-asserted-by":"publisher","DOI":"10.1161\/circulationaha.107.702720"},{"key":"e_1_3_4_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0741-5214(97)70261-1"},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.athoracsur.2006.04.098"},{"key":"e_1_3_4_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9149(98)00364-6"},{"key":"e_1_3_4_7_2","doi-asserted-by":"publisher","DOI":"10.1161\/circulationaha.105.537340"},{"key":"e_1_3_4_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2007.6"},{"key":"e_1_3_4_9_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.103.20.2461"},{"key":"e_1_3_4_10_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.103.20.2469"},{"key":"e_1_3_4_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/75514"},{"key":"e_1_3_4_12_2","first-page":"175","article-title":"Thoracic aortic aneurysm: reading the enemy's playbook","volume":"81","author":"Elefteriades JA","year":"2008","unstructured":"Elefteriades JA. 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