Citations for
1ACTA2, TAAD4
Vascular disease-causing mutation R258C in ACTA2 disrupts actin dynamics and interaction with myosin.
Lu H, Fagnant PM, Bookwalter CS, Joel P, Trybus KM.
Proc Natl Acad Sci U S A 112(31):E4168-77. doi: 10.1073/pnas.1507587112. Epub 2015 Jul 7. 2015
2ACTA2, TAAD4
Progressive Aortic Dilation Associated With ACTA2 Mutations Presenting in Infancy.
Yetman AT, Starr LJ, Bleyl SB, Meyers L, Delaney JW.
Pediatrics 136(1):e262-6. doi: 10.1542/peds.2014-3032. Epub 2015 Jun 1. 2015
3ACTA2, MSMD1
Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation.
Brodsky MC, Turan KE, Khanna CL, Patton A, Kirmani S.
J AAPOS 18(4):393-5. doi: 10.1016/j.jaapos.2014.02.010. Epub 2014 Jul 3. Erratum in: J AAPOS. 2014 Oct;18(5):518. 2014
4ACTA2, AKT1
Akt1 mediates α-smooth muscle actin expression and myofibroblast differentiation via myocardin and serum response factor.
Abdalla M, Goc A, Segar L, Somanath PR.
J Biol Chem 288(46):33483-93. doi: 10.1074/jbc.M113.504290. Epub 2013 Oct 8. 2013
5ACTA2, PURB
Structural basis of multisite single-stranded DNA recognition and ACTA2 repression by purine-rich element binding protein B (Purβ).
Rumora AE, Wang SX, Ferris LA, Everse SJ, Kelm RJ Jr.
Biochemistry 52(26):4439-50. doi: 10.1021/bi400283r. Epub 2013 Jun 20. 2013
6ACTA2
Smooth muscle hyperplasia due to loss of smooth muscle α-actin is driven by activation of focal adhesion kinase, altered p53 localization and increased levels of platelet-derived growth factor receptor-β.
Papke CL, Cao J, Kwartler CS, Villamizar C, Byanova KL, Lim SM, Sreenivasappa H, Fischer G, Pham J, Rees M, Wang M, Chaponnier C, Gabbiani G, Khakoo AY, Chandra J, Trache A, Zimmer W, Milewicz DM.
Hum Mol Genet 22(15):3123-37. doi: 10.1093/hmg/ddt167. Epub 2013 Apr 15. 2013
7ACTA2, TAAD4
Thoracic aortic aneurysm (TAAD)-causing mutation in actin affects formin regulation of polymerization.
Malloy LE, Wen KK, Pierick AR, Wedemeyer EW, Bergeron SE, Vanderpool ND, McKane M, Rubenstein PA, Bartlett HL.
J Biol Chem 287(34):28398-408. doi: 10.1074/jbc.M112.371914. Epub 2012 Jun 29. 2012
8ACTA2, PTGS2
Monocytes-macrophages that express α-smooth muscle actin preserve primitive hematopoietic cells in the bone marrow.
Ludin A, Itkin T, Gur-Cohen S, Mildner A, Shezen E, Golan K, Kollet O, Kalinkovich A, Porat Z, D'Uva G, Schajnovitz A, Voronov E, Brenner DA, Apte RN, Jung S, Lapidot T.
Nat Immunol 13(11):1072-82. doi: 10.1038/ni.2408. Epub 2012 Sep 16. 2012
9ACTA2
Smooth muscle α actin is specifically required for the maintenance of lactation.
Weymouth N, Shi Z, Rockey DC.
Dev Biol 363(1):1-14. doi: 10.1016/j.ydbio.2011.11.002. Epub 2011 Nov 12. 2012
10ACTA2, LDS1A, LDS1B, TAAD4, TGFBR1, TGFBR2
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 155A(9):2125-30. doi: 10.1002/ajmg.a.34050. Epub 2011 Aug 3. 2011
11ACTA2, MYMY5
Analysis of ACTA2 in European Moyamoya disease patients.
Roder C, Peters V, Kasuya H, Nishizawa T, Wakita S, Berg D, Schulte C, Khan N, Tatagiba M, Krischek B.
Eur J Paediatr Neurol 15(2):117-22. doi: 10.1016/j.ejpn.2010.09.002. Epub 2010 Oct 20. 2011
12ACTA2, MSMD1
De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.
Milewicz DM, Østergaard JR, Ala-Kokko LM, Khan N, Grange DK, Mendoza-Londono R, Bradley TJ, Olney AH, Adès L, Maher JF, Guo D, Buja LM, Kim D, Hyland JC, Regalado ES.
Am J Med Genet A 152A(10):2437-43. doi: 10.1002/ajmg.a.33657. 2010
13ACTA2
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 84(5):617-27. Epub 2009 Apr 30. 2009
14ACTA2
Presence of alpha-smooth muscle actin-positive endothelial cells in the luminal surface of adult aorta.
Azuma K, Ichimura K, Mita T, Nakayama S, Jin WL, Hirose T, Fujitani Y, Sumiyoshi K, Shimada K, Daida H, Sakai T, Mitsumata M, Kawamori R, Watada H.
Biochem Biophys Res Commun 380(3):620-6. Epub 2009 Jan 27. 2009
15ACTA2, TAAD4
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 30(10):1406-11.PMID: 19639654 2009
16ACTA2, MSMD1, MYMY5, TAAD4
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 84(5):617-27. doi: 10.1016/j.ajhg.2009.04.007. Epub 2009 Apr 30. 2009
17ACTA2, ACTC1, ASD3, ASD5, CMD1R, CMD1S, CMH1, CMH6, CMHNE, MYBPC3, MYH11, MYH6, MYH7, TAAD1, TAAD4
Mutations in sarcomeric protein genes not only lead to cardiomyopathy but also to congenital cardiovascular malformations.
Wessels MW, Willems PJ.
Clin Genet 74(1):16-9. Epub 2008 Apr 8. 2008
18ACTA2, TAAD4
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 39(12):1488-93. Epub 2007 Nov 11. 2007
19ACTA2
Dependence of collagen remodelling on alpha-smooth muscle actin expression by fibroblasts.
Arora PD, McCulloch CA.
J Cell Physiol 159(1):161-75. 1994
20ACTA2
Assignment of the vascular smooth muscle actin gene ACTSA to human chromosome 10.
Ueyama H, et al.
Jpn J Hum Genet 35 : 145-150. 1990
21ACTA2
TaqI polymorphism in the 3' flanking region of the human aortic smooth muscle actin gene.
Ueyama H, et al.
Nucleic Acids Res 18 : 1318. 1990
22ACTA2
Structure of a human smooth muscle actin gene (aortic type) with a intron site.
Ueyama H, et al.
Mol Cell Biol 4 : 1073-1078. 1984