242 related articles for article (PubMed ID: 21248741)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.
Guo DC; Pannu H; Tran-Fadulu V; Papke CL; Yu RK; Avidan N; Bourgeois S; Estrera AL; Safi HJ; Sparks E; Amor D; Ades L; McConnell V; Willoughby CE; Abuelo D; Willing M; Lewis RA; Kim DH; Scherer S; Tung PP; Ahn C; Buja LM; Raman CS; Shete SS; Milewicz DM
Nat Genet; 2007 Dec; 39(12):1488-93. PubMed ID: 17994018
[TBL] [Abstract][Full Text] [Related]
7. Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD).
Morisaki H; Akutsu K; Ogino H; Kondo N; Yamanaka I; Tsutsumi Y; Yoshimuta T; Okajima T; Matsuda H; Minatoya K; Sasaki H; Tanaka H; Ishibashi-Ueda H; Morisaki T
Hum Mutat; 2009 Oct; 30(10):1406-11. PubMed ID: 19639654
[TBL] [Abstract][Full Text] [Related]
8. Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction.
Milewicz DM; Guo DC; Tran-Fadulu V; Lafont AL; Papke CL; Inamoto S; Kwartler CS; Pannu H
Annu Rev Genomics Hum Genet; 2008; 9():283-302. PubMed ID: 18544034
[TBL] [Abstract][Full Text] [Related]
9. Autosomal dominant inheritance of a predisposition to thoracic aortic aneurysms and dissections and intracranial saccular aneurysms.
Regalado E; Medrek S; Tran-Fadulu V; Guo DC; Pannu H; Golabbakhsh H; Smart S; Chen JH; Shete S; Kim DH; Stern R; Braverman AC; Milewicz DM
Am J Med Genet A; 2011 Sep; 155A(9):2125-30. PubMed ID: 21815248
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.
Tran-Fadulu V; Pannu H; Kim DH; Vick GW; Lonsford CM; Lafont AL; Boccalandro C; Smart S; Peterson KL; Hain JZ; Willing MC; Coselli JS; LeMaire SA; Ahn C; Byers PH; Milewicz DM
J Med Genet; 2009 Sep; 46(9):607-13. PubMed ID: 19542084
[TBL] [Abstract][Full Text] [Related]
12. Alpha-actin-2 mutations in Chinese patients with a non-syndromatic thoracic aortic aneurysm.
Ke T; Han M; Zhao M; Wang QK; Zhang H; Zhao Y; Ruan X; Li H; Xu C; Sun T
BMC Med Genet; 2016 Jul; 17(1):45. PubMed ID: 27431987
[TBL] [Abstract][Full Text] [Related]
13. Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections.
Regalado ES; Guo DC; Santos-Cortez RL; Hostetler E; Bensend TA; Pannu H; Estrera A; Safi H; Mitchell AL; Evans JP; Leal SM; Bamshad M; Shendure J; Nickerson DA; ; Milewicz DM
Clin Genet; 2016 Jun; 89(6):719-23. PubMed ID: 26621581
[TBL] [Abstract][Full Text] [Related]
14. Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.
Pannu H; Fadulu VT; Chang J; Lafont A; Hasham SN; Sparks E; Giampietro PF; Zaleski C; Estrera AL; Safi HJ; Shete S; Willing MC; Raman CS; Milewicz DM
Circulation; 2005 Jul; 112(4):513-20. PubMed ID: 16027248
[TBL] [Abstract][Full Text] [Related]
15. The non-syndromic familial thoracic aortic aneurysms and dissections maps to 15q21 locus.
Keramati AR; Sadeghpour A; Farahani MM; Chandok G; Mani A
BMC Med Genet; 2010 Oct; 11():143. PubMed ID: 20937124
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Iris Flocculi as an ocular marker of ACTA2 mutation in familial thoracic aortic aneurysms and dissections.
Chamney S; McGimpsey S; McConnell V; Willoughby CE
Ophthalmic Genet; 2015 Mar; 36(1):86-8. PubMed ID: 24020716
[TBL] [Abstract][Full Text] [Related]
18. Clinical outcomes of aortic repair in young adult patients with ACTA2 mutations.
Seike Y; Minatoya K; Sasaki H; Tanaka H; Itonaga T; Inoue Y; Morisaki H; Morisaki T; Ishibashi-Ueda H; Kobayashi J
Gen Thorac Cardiovasc Surg; 2017 Dec; 65(12):686-691. PubMed ID: 28808903
[TBL] [Abstract][Full Text] [Related]
19. Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms.
Regalado ES; Guo DC; Villamizar C; Avidan N; Gilchrist D; McGillivray B; Clarke L; Bernier F; Santos-Cortez RL; Leal SM; Bertoli-Avella AM; Shendure J; Rieder MJ; Nickerson DA; ; Milewicz DM
Circ Res; 2011 Sep; 109(6):680-6. PubMed ID: 21778426
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
