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Items: 1 to 20 of 100

1.

ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome.

Meuwissen ME, Lequin MH, Bindels-de Heus K, Bruggenwirth HT, Knapen MF, Dalinghaus M, de Coo R, van Bever Y, Winkelman BH, Mancini GM.

Am J Med Genet A. 2013 Jun;161A(6):1376-80. doi: 10.1002/ajmg.a.35858. Epub 2013 Apr 23.

PMID:
23613326
2.

A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations.

Munot P, Saunders DE, Milewicz DM, Regalado ES, Ostergaard JR, Braun KP, Kerr T, Lichtenbelt KD, Philip S, Rittey C, Jacques TS, Cox TC, Ganesan V.

Brain. 2012 Aug;135(Pt 8):2506-14. doi: 10.1093/brain/aws172. Epub 2012 Jul 24.

3.

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. doi: 10.1002/humu.21081.

PMID:
19639654
4.

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. 2010 Oct;152A(10):2437-43. doi: 10.1002/ajmg.a.33657.

5.

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 10;165(2):314-21. doi: 10.1016/j.ijcard.2011.08.079. Epub 2011 Sep 19.

6.

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 Summer;40(3):278-84.

PMID:
20689142
7.

Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation.

Moosa AN, Traboulsi EI, Reid J, Prieto L, Moran R, Friedman NR.

J Child Neurol. 2013 Apr;28(4):531-4. doi: 10.1177/0883073812446631. Epub 2012 Jun 29.

PMID:
22752479
8.

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. doi: 10.1542/peds.2013-2503. Epub 2014 Sep 15.

9.

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. doi: 10.1038/ejhg.2010.239. Epub 2011 Jan 19.

10.

Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome.

Moller HU, Fledelius HC, Milewicz DM, Regalado ES, Ostergaard JR.

Br J Ophthalmol. 2012 Sep;96(9):1227-31. doi: 10.1136/bjophthalmol-2011-301462. Epub 2012 Jul 11.

11.

Progressive Aortic Dilation Associated With ACTA2 Mutations Presenting in Infancy.

Yetman AT, Starr LJ, Bleyl SB, Meyers L, Delaney JW.

Pediatrics. 2015 Jul;136(1):e262-6. doi: 10.1542/peds.2014-3032. Epub 2015 Jun 1.

PMID:
26034244
12.

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. doi: 10.1136/hrt.2010.204388. Epub 2011 Jan 6.

PMID:
21212136
13.

Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus.

Harakalova M, van der Smagt J, de Kovel CG, Van't Slot R, Poot M, Nijman IJ, Medic J, Joziasse I, Deckers J, Roos-Hesselink JW, Wessels MW, Baars HF, Weiss MM, Pals G, Golmard L, Jeunemaitre X, Lindhout D, Cuppen E, Baas AF.

Eur J Hum Genet. 2013 May;21(5):487-93. doi: 10.1038/ejhg.2012.206. Epub 2012 Sep 12.

14.

Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease.

Williams JA, Loeys BL, Nwakanma LU, Dietz HC, Spevak PJ, Patel ND, François K, DeBacker J, Gott VL, Vricella LA, Cameron DE.

Ann Thorac Surg. 2007 Feb;83(2):S757-63; discussion S785-90.

PMID:
17257922
15.

Congenital fixed dilated pupils due to ACTA2- multisystemic smooth muscle dysfunction syndrome.

Roulez FM, Faes F, Delbeke P, Van Bogaert P, Rodesch G, De Zaeytijd J, Depasse F, Coucke PJ, Meire FM.

J Neuroophthalmol. 2014 Jun;34(2):137-43. doi: 10.1097/WNO.0000000000000090.

PMID:
24621862
16.

Congenital heart defects are rarely caused by mutations in cardiac and smooth muscle actin genes.

Khodyuchenko T, Zlotina A, Pervunina T, Zverev D, Malashicheva A, Kostareva A.

Biomed Res Int. 2015;2015:127807. doi: 10.1155/2015/127807. Epub 2015 Mar 10.

17.

Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.

Stheneur C, Collod-Béroud G, Faivre L, Gouya L, Sultan G, Le Parc JM, Moura B, Attias D, Muti C, Sznajder M, Claustres M, Junien C, Baumann C, Cormier-Daire V, Rio M, Lyonnet S, Plauchu H, Lacombe D, Chevallier B, Jondeau G, Boileau C.

Hum Mutat. 2008 Nov;29(11):E284-95. doi: 10.1002/humu.20871.

PMID:
18781618
18.

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. doi: 10.1016/j.ajhg.2009.04.007. Epub 2009 Apr 30.

19.

The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD).

Lerner-Ellis JP, Aldubayan SH, Hernandez AL, Kelly MA, Stuenkel AJ, Walsh J, Joshi VA.

Mol Genet Metab. 2014 Jun;112(2):171-6. doi: 10.1016/j.ymgme.2014.03.011. Epub 2014 Apr 2.

PMID:
24793577
20.

R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations.

Richer J, Milewicz DM, Gow R, de Nanassy J, Maharajh G, Miller E, Oppenheimer L, Weiler G, O'Connor M.

Am J Med Genet A. 2012 Mar;158A(3):664-8. doi: 10.1002/ajmg.a.35206. Epub 2012 Feb 2.

PMID:
22302747
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