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5. The natural history of a family with aortic dissection associated with a novel ACTA2 variant. Delsart P; Vanlerberghe C; Juthier F; Sobocinski J; Domanski O; Longere B; Hanna N; Arnaud P; Marsili L Ann Vasc Surg; 2021 Nov; 77():348.e7-348.e11. PubMed ID: 34437965 [TBL] [Abstract][Full Text] [Related]
6. Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort. van den Bersselaar LM; Verhagen JMA; Bekkers JA; Kempers M; Houweling AC; Baars M; Overwater E; Hilhorst-Hofstee Y; Barge-Schaapveld DQCM; Rompen E; Krapels IPC; Dulfer E; Wessels MW; Loeys BL; Verhagen HJM; Maugeri A; Roos-Hesselink JW; Brüggenwirth HT; van de Laar IMBH Genet Med; 2022 Oct; 24(10):2112-2122. PubMed ID: 36053285 [TBL] [Abstract][Full Text] [Related]
7. Novel variants in the ACTA2 and MYH11 genes in a Cypriot family with thoracic aortic aneurysms: a case report. Keravnou A; Bashiardes E; Michailidou K; Soteriou M; Moushi A; Cariolou M BMC Med Genet; 2018 Dec; 19(1):208. PubMed ID: 30526509 [TBL] [Abstract][Full Text] [Related]
8. Acute aortic dissections with pregnancy in women with ACTA2 mutations. Regalado ES; Guo DC; Estrera AL; Buja LM; Milewicz DM Am J Med Genet A; 2014 Jan; 164A(1):106-12. PubMed ID: 24243736 [TBL] [Abstract][Full Text] [Related]
9. Clinical, pathological, and genetic analysis of a Korean family with thoracic aortic aneurysms and dissections carrying a novel Asp26Tyr mutation. Yoo EH; Choi SH; Jang SY; Suh YL; Lee I; Song JK; Choe YH; Kim JW; Ki CS; Kim DK Ann Clin Lab Sci; 2010; 40(3):278-84. PubMed ID: 20689142 [TBL] [Abstract][Full Text] [Related]
10. Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2). Disabella E; Grasso M; Gambarin FI; Narula N; Dore R; Favalli V; Serio A; Antoniazzi E; Mosconi M; Pasotti M; Odero A; Arbustini E Heart; 2011 Feb; 97(4):321-6. PubMed ID: 21212136 [TBL] [Abstract][Full Text] [Related]
11. Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. Guo DC; Papke CL; Tran-Fadulu V; Regalado ES; Avidan N; Johnson RJ; Kim DH; Pannu H; Willing MC; Sparks E; Pyeritz RE; Singh MN; Dalman RL; Grotta JC; Marian AJ; Boerwinkle EA; Frazier LQ; LeMaire SA; Coselli JS; Estrera AL; Safi HJ; Veeraraghavan S; Muzny DM; Wheeler DA; Willerson JT; Yu RK; Shete SS; Scherer SE; Raman CS; Buja LM; Milewicz DM Am J Hum Genet; 2009 May; 84(5):617-27. PubMed ID: 19409525 [TBL] [Abstract][Full Text] [Related]
12. Twins with progressive thoracic aortic aneurysm, recurrent dissection and ACTA2 mutation. Ware SM; Shikany A; Landis BJ; James JF; Hinton RB Pediatrics; 2014 Oct; 134(4):e1218-23. PubMed ID: 25225139 [TBL] [Abstract][Full Text] [Related]
13. Familial acute aortic dissection associated with a novel ACTA2 germline variant. Strecker T; Wiesmueller F; Rudnik-Schöneborn S; Hoyer J; Reis A; Weyand M; Agaimy A Virchows Arch; 2023 Feb; 482(2):437-443. PubMed ID: 35896809 [TBL] [Abstract][Full Text] [Related]
16. Vascular disease-causing mutation, smooth muscle α-actin R258C, dominantly suppresses functions of α-actin in human patient fibroblasts. Liu Z; Chang AN; Grinnell F; Trybus KM; Milewicz DM; Stull JT; Kamm KE Proc Natl Acad Sci U S A; 2017 Jul; 114(28):E5569-E5578. PubMed ID: 28652363 [TBL] [Abstract][Full Text] [Related]
17. Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections. Hoffjan S; Waldmüller S; Blankenfeldt W; Kötting J; Gehle P; Binner P; Epplen JT; Scheffold T Eur J Hum Genet; 2011 May; 19(5):520-4. PubMed ID: 21248741 [TBL] [Abstract][Full Text] [Related]
18. Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD. Renard M; Callewaert B; Baetens M; Campens L; MacDermot K; Fryns JP; Bonduelle M; Dietz HC; Gaspar IM; Cavaco D; Stattin EL; Schrander-Stumpel C; Coucke P; Loeys B; De Paepe A; De Backer J Int J Cardiol; 2013 May; 165(2):314-21. PubMed ID: 21937134 [TBL] [Abstract][Full Text] [Related]
19. Variants of Unknown Significance in Genes Associated with Heritable Thoracic Aortic Disease Can Be Low Penetrant "Risk Variants". Kwartler CS; Gong L; Chen J; Wang S; Kulmacz R; Duan XY; Janda A; Huang J; Kamm KE; Stull JT; Guo D; Milewicz DM Am J Hum Genet; 2018 Jul; 103(1):138-143. PubMed ID: 29961567 [TBL] [Abstract][Full Text] [Related]
20. Search for genetic factors in bicuspid aortic valve disease: ACTA2 mutations do not play a major role. Tortora G; Wischmeijer A; Berretta P; Alfonsi J; Di Marco L; Barbieri A; Marconi C; Isidori F; Rossi C; Leone O; Di Bartolomeo R; Seri M; Pacini D Interact Cardiovasc Thorac Surg; 2017 Nov; 25(5):813-817. PubMed ID: 29049801 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]