Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms

Journal of Thoracic and Cardiovascular Surgery

Volumn 134, Issue 2, 2007, Pages 290-296

  McKellar, Stephen H ^a   Tester, David J ^b   Yagubyan, Marineh ^a   Majumdar, Ramanath ^a   Ackerman, Michael J ^b   Sundt III, Thoralf M ^a  

^a Mayo Clinic   (United States)

^b Molecular Pharmacology and Experimental Therapeutics and the Divisions of Cardiovascular Diseases an   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; NOTCH1 RECEPTOR;

ADULT; AGED; AORTA DISSECTION; AORTA VALVE DISEASE; ARTICLE; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA SEQUENCE; EXON; FEMALE; GENE MUTATION; GENETIC PREDISPOSITION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; THORACIC AORTA ANEURYSM;

ADULT; AGED; AORTA, THORACIC; AORTIC ANEURYSM, THORACIC; AORTIC VALVE; AORTIC VALVE INSUFFICIENCY; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; RECEPTOR, NOTCH1;

EID: 34447634252     PISSN: 00225223     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jtcvs.2007.02.041     Document Type: Article

References (23)

1. Warnes C.A. The adult with congenital heart disease: born to be bad?. J Am Coll Cardiol. 46 (2005) 1-8
2. Ward C. Clinical significance of the bicuspid aortic valve. Heart 83 (2000) 81-85
3. Russo C.F., Mazzetti S., Garatti A., Ribera E., Milazzo A., Bruschi G., et al. Aortic complications after bicuspid aortic valve replacement: long-term results. Ann Thorac Surg. 74 (2002) S1773-S1776 discussion S1792-9
4. Rankin J.S., Hammill B.G., Ferguson Jr. T.B., Glower D.D., O'Brien S.M., DeLong E.R., et al. Determinants of operative mortality in valvular heart surgery. J Thorac Cardiovasc Surg. 131 (2006) 547-557
5. Clementi M., Notari L., Borghi A., and Tenconi R. Familial congenital bicuspid aortic valve: a disorder of uncertain inheritance. Am J Med Genet. 62 (1996) 336-338
6. Cripe L., Andelfinger G., Martin L.J., Shooner K., and Benson D.W. Bicuspid aortic valve is heritable. J Am Coll Cardiol. 44 (2004) 138-143
7. Loeys B.L., Schwarze U., Holm T., Callewaert B.L., Thomas G.H., Pannu H., et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med. 355 (2006) 788-798
8. Guo D., Hasham S., Kuang S.Q., Vaughan C.J., Boerwinkle E., Chen H., et al. Familial thoracic aortic aneurysms and dissections: genetic heterogeneity with a major locus mapping to 5q13-14. Circulation 103 (2001) 2461-2468
9. Vaughan C.J., Casey M., He J., Veugelers M., Henderson K., Guo D., et al. Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder. Circulation 103 (2001) 2469-2475
10. Hasham S.N., Willing M.C., Guo D.C., Muilenburg A., He R., Tran V.T., et al. Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25. Circulation 107 (2003) 3184-3190
11. Pannu H., Tran-Fadulu V., and Milewicz D.M. Genetic basis of thoracic aortic aneurysms and aortic dissections. Am J Med Genet C Semin Med Genet. 139 (2005) 10-16
12. Baron M. An overview of the Notch signalling pathway. Semin Cell Dev Biol. 14 (2003) 113-119
13. Timmerman L.A., Grego-Bessa J., Raya A., Bertran E., Perez-Pomares J.M., Diez J., et al. Notch promotes epithelial-mesenchymal transition during cardiac development and oncogenic transformation. Genes Dev. 18 (2004) 99-115
14. Alva J.A., and Iruela-Arispe M.L. Notch signaling in vascular morphogenesis. Curr Opin Hematol. 11 (2004) 278-283
15. Garg V. Molecular genetics of aortic valve disease. Curr Opin Cardiol. 21 (2006) 180-184
16. Garg V., Muth A.N., Ransom J.F., Schluterman M.K., Barnes R., King I.N., et al. Mutations in NOTCH1 cause aortic valve disease. Nature 437 (2005) 270-274
17. Mohamed S.A., Aherrahrou Z., Liptau H., Erasmi A.W., Hagemann C., Wrobel S., et al. Novel missense mutations (p.T596M and p. P1797H) in NOTCH1 in patients with bicuspid aortic valve. Biochem Biophys Res Commun. 345 (2006) 1460-1465
18. Senni M., Tribouilloy C.M., Rodeheffer R.J., Jacobsen S.J., Evans J.M., Bailey K.R., et al. Congestive heart failure in the community: a study of all incident cases in Olmsted County, Minnesota, in 1991. Circulation 98 (1998) 2282-2289
19. Tester D.J., Will M.L., and Ackerman M.J. Mutation detection in congenital long QT syndrome. In: Wang Q.K. (Ed). Cardiovascular disease: methods and protocols. Genetics (2006), Humana Press, Totowa [NJ] 181-207 Vol 1
20. Rost B., Yachdav G., and Liu J. The PredictProtein server. Nucleic Acids Res. 32 (2004) W321-W326
21. Baron M. An overview of the Notch signalling pathway. Sem Cell Dev Biol. 14 (2003) 113-119
22. Iso T., Hamamori Y., and Kedes L. Notch signaling in vascular development. Arterioscler Thromb Vasc Biol. 23 (2003) 543-553
23. Kluppel M., and Wrana J.L. Turning it up a Notch: cross-talk between TGF beta and Notch signaling. Bioessays 27 (2005) 115-118