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The paradoxical TGF-β vasculopathies.

Akhurst RJ.

Nat Genet. 2012 Jul 27;44(8):838-9. doi: 10.1038/ng.2366. No abstract available.


TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.

Boileau C, Guo DC, Hanna N, Regalado ES, Detaint D, Gong L, Varret M, Prakash SK, Li AH, d'Indy H, Braverman AC, Grandchamp B, Kwartler CS, Gouya L, Santos-Cortez RL, Abifadel M, Leal SM, Muti C, Shendure J, Gross MS, Rieder MJ, Vahanian A, Nickerson DA, Michel JB; National Heart, Lung, and Blood Institute (NHLBI) Go Exome Sequencing Project, Jondeau G, Milewicz DM.

Nat Genet. 2012 Jul 8;44(8):916-21. doi: 10.1038/ng.2348.


Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2.

Renard M, Callewaert B, Malfait F, Campens L, Sharif S, del Campo M, Valenzuela I, Mcwilliam C, Coucke P, De Paepe A, De Backer J.

Int J Cardiol. 2013 May 25;165(3):584-7. doi: 10.1016/j.ijcard.2012.09.029. Epub 2012 Oct 25. No abstract available.


A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm.

Leutermann R, Sheikhzadeh S, Brockstädt L, Rybczynski M, van Rahden V, Kutsche K, von Kodolitsch Y, Rosenberger G.

Eur J Hum Genet. 2014 Jul;22(7):944-8. doi: 10.1038/ejhg.2013.252. Epub 2013 Nov 6.


Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation.

Ritelli M, Chiarelli N, Dordoni C, Quinzani S, Venturini M, Maroldi R, Calzavara-Pinton P, Colombi M.

BMC Med Genet. 2014 Aug 28;15:91. doi: 10.1186/s12881-014-0091-8.


Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease.

Gago-Díaz M, Blanco-Verea A, Teixidó-Turà G, Valenzuela I, Del Campo M, Borregan M, Sobrino B, Amigo J, García-Dorado D, Evangelista A, Carracedo A, Brion M.

Clin Chim Acta. 2014 Nov 1;437:88-92. doi: 10.1016/j.cca.2014.07.016. Epub 2014 Jul 19.


Role of TGF-β pathway polymorphisms in sporadic thoracic aortic aneurysm: rs900 TGF-β2 is a marker of differential gender susceptibility.

Scola L, Di Maggio FM, Vaccarino L, Bova M, Forte GI, Pisano C, Candore G, Colonna-Romano G, Lio D, Ruvolo G, Balistreri CR.

Mediators Inflamm. 2014;2014:165758. doi: 10.1155/2014/165758. Epub 2014 Feb 24.


TGFβRIIb mutations trigger aortic aneurysm pathogenesis by altering transforming growth factor β2 signal transduction.

Bee KJ, Wilkes DC, Devereux RB, Basson CT, Hatcher CJ.

Circ Cardiovasc Genet. 2012 Dec;5(6):621-9. doi: 10.1161/CIRCGENETICS.112.964064. Epub 2012 Oct 24.


Heritable thoracic aortic disorders.

Pyeritz RE.

Curr Opin Cardiol. 2014 Jan;29(1):97-102. doi: 10.1097/HCO.0000000000000023. Review.


Thoracic aortic dissection: genes, molecules, and the knife.

Choi JC, LeMaire SA.

Tex Heart Inst J. 2012;39(6):838-9. Review. No abstract available.


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 26;112(4):513-20. Epub 2005 Jul 18.


Perturbations of mechanotransduction and aneurysm formation in heritable aortopathies.

Jeremy RW, Robertson E, Lu Y, Hambly BD.

Int J Cardiol. 2013 Oct 25;169(1):7-16. doi: 10.1016/j.ijcard.2013.08.056. Epub 2013 Aug 27. Review.


The Loeys-Dietz syndrome: an update for the clinician.

Van Hemelrijk C, Renard M, Loeys B.

Curr Opin Cardiol. 2010 Nov;25(6):546-51. doi: 10.1097/HCO.0b013e32833f0220. Review.


Identification and surgical repair of familial thoracic aortic aneurysm and dissection caused by TGFBR1 mutation.

Dong SB, Zheng J, Ma WG, Chen MJ, Cheng LJ, He L, Xing QH, Sun LZ.

Ann Vasc Surg. 2014 Nov;28(8):1909-12. doi: 10.1016/j.avsg.2014.07.013. Epub 2014 Aug 7.


Candidate gene association analysis of thoracic aortic aneurysm and dissection.

Ahmad U, Javed MA, Fatimi SH.

J Thorac Cardiovasc Surg. 2006 Oct;132(4):988; author reply 988-9. No abstract available.


Gene mutations and familial thoracic aortic aneurysms: a walk on the mild side.

Spin JM.

Circ Cardiovasc Genet. 2011 Feb;4(1):4-6. doi: 10.1161/CIRCGENETICS.110.959171. No abstract available.


Transforming growth factor-β/Smad signaling function in the aortopathies.

Yuan SM, Wang J, Hu XN, Li DM, Jing H.

Rev Bras Cir Cardiovasc. 2011 Jul-Sep;26(3):393-403.


MMP17/MT4-MMP and thoracic aortic aneurysms: OPNing new potential for effective treatment.

Papke CL, Yamashiro Y, Yanagisawa H.

Circ Res. 2015 Jul 3;117(2):109-12. doi: 10.1161/CIRCRESAHA.117.306851. No abstract available.


[Another case of dissecting aortic aneurysm with familial incidence].

Conte MR, Restagno G, Mangiardi L, Orzan F, Valesio R, Brusca A.

Cardiologia. 1992 Jul;37(7):513-7. Review. Italian.


A deletion mutation in myosin heavy chain 11 causing familial thoracic aortic dissection in two Japanese pedigrees.

Imai Y, Morita H, Takeda N, Miya F, Hyodo H, Fujita D, Tajima T, Tsunoda T, Nagai R, Kubo M, Komuro I.

Int J Cardiol. 2015 Sep 15;195:290-2. doi: 10.1016/j.ijcard.2015.05.178. Epub 2015 Jun 3. No abstract available.


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