Large Deletions and Uniparental Disomy Detected by SNP Arrays in Adults with Thoracic Aortic Aneurysms and Dissections

Overview

Journal Am J Med Genet A

Specialty Genetics

Date 2010 Aug 5

PMID 20683997

Citations 2

Authors

Siddharth Prakash

Scott A LeMaire

Molly Bray

Dianna M Milewicz

John W Belmont

Affiliations

Soon will be listed here.

Citing Articles

Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease.

Mariscalco G, Debiec R, Elefteriades J, Samani N, Murphy G J Am Heart Assoc. 2018; 7(15):e009302.

PMID: 30371227 PMC: 6201478. DOI: 10.1161/JAHA.118.009302.

Epidemiology of thoracic aortic dissection.

LeMaire S, Russell L Nat Rev Cardiol. 2010; 8(2):103-13.

PMID: 21173794 DOI: 10.1038/nrcardio.2010.187.

References

Loeys B, Schwarze U, Holm T, Callewaert B, Thomas G, Pannu H . Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med. 2006; 355(8):788-98. DOI: 10.1056/NEJMoa055695. View

Conlin L, Thiel B, Bonnemann C, Medne L, Ernst L, Zackai E . Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol Genet. 2010; 19(7):1263-75. PMC: 3146011. DOI: 10.1093/hmg/ddq003. View

Jay P, Bielinska M, Erlich J, Mannisto S, Pu W, Heikinheimo M . Impaired mesenchymal cell function in Gata4 mutant mice leads to diaphragmatic hernias and primary lung defects. Dev Biol. 2006; 301(2):602-14. PMC: 1808541. DOI: 10.1016/j.ydbio.2006.09.050. View

Cooper W, Curley R, MacDonald F, Maher E . Mitotic recombination and uniparental disomy in Beckwith-Wiedemann syndrome. Genomics. 2007; 89(5):613-7. DOI: 10.1016/j.ygeno.2007.01.005. View

Xiong W, MacTaggart J, Knispel R, Worth J, Persidsky Y, Baxter B . Blocking TNF-alpha attenuates aneurysm formation in a murine model. J Immunol. 2009; 183(4):2741-6. PMC: 4028114. DOI: 10.4049/jimmunol.0803164. View

Bardin N, Anfosso F, Masse J, Cramer E, Sabatier F, Le Bivic A . Identification of CD146 as a component of the endothelial junction involved in the control of cell-cell cohesion. Blood. 2001; 98(13):3677-84. DOI: 10.1182/blood.v98.13.3677. View

Yang H, Kim J, Chum E, van Breemen C, Chung A . Long-term effects of losartan on structure and function of the thoracic aorta in a mouse model of Marfan syndrome. Br J Pharmacol. 2009; 158(6):1503-12. PMC: 2795217. DOI: 10.1111/j.1476-5381.2009.00443.x. View

Truty M, Lomberk G, Fernandez-Zapico M, Urrutia R . Silencing of the transforming growth factor-beta (TGFbeta) receptor II by Kruppel-like factor 14 underscores the importance of a negative feedback mechanism in TGFbeta signaling. J Biol Chem. 2008; 284(10):6291-300. PMC: 2649086. DOI: 10.1074/jbc.M807791200. View

Kagami M, Sekita Y, Nishimura G, Irie M, Kato F, Okada M . Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes. Nat Genet. 2008; 40(2):237-42. DOI: 10.1038/ng.2007.56. View

10.

Fortune M, Vassilopoulos C, Coolbaugh M, Siciliano M, Monckton D . Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability. Hum Mol Genet. 2000; 9(3):439-45. DOI: 10.1093/hmg/9.3.439. View

11.

Xiao P, Liu P, Weber J, Papasian C, Recker R, Deng H . Paternal uniparental isodisomy of the entire chromosome 3 revealed in a person with no apparent phenotypic disorders. Hum Mutat. 2006; 27(2):133-7. DOI: 10.1002/humu.20302. View

12.

Matt P, Fu Z, Carrel T, Huso D, Dirnhofer S, Lefkovits I . Proteomic alterations in heat shock protein 27 and identification of phosphoproteins in ascending aortic aneurysm associated with bicuspid and tricuspid aortic valve. J Mol Cell Cardiol. 2007; 43(6):792-801. PMC: 4340705. DOI: 10.1016/j.yjmcc.2007.08.011. View

13.

Li W, Su J, Sehgal S, Altura B, Altura B . Cocaine-induced relaxation of isolated rat aortic rings and mechanisms of action: possible relation to cocaine-induced aortic dissection and hypotension. Eur J Pharmacol. 2004; 496(1-3):151-8. DOI: 10.1016/j.ejphar.2004.06.015. View

14.

Hannula K, Lipsanen-Nyman M, Kontiokari T, Kere J . A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region. Am J Hum Genet. 2000; 68(1):247-53. PMC: 1234921. DOI: 10.1086/316937. View

15.

Kagami M, Nishimura G, Okuyama T, Hayashidani M, Takeuchi T, Tanaka S . Segmental and full paternal isodisomy for chromosome 14 in three patients: narrowing the critical region and implication for the clinical features. Am J Med Genet A. 2005; 138A(2):127-32. DOI: 10.1002/ajmg.a.30941. View

16.

Peiffer D, Le J, Steemers F, Chang W, Jenniges T, Garcia F . High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping. Genome Res. 2006; 16(9):1136-48. PMC: 1557768. DOI: 10.1101/gr.5402306. View

17.

Tang V, Dhirapong A, Yabes A, Weiss R . TNF-alpha-mediated apoptosis in vascular smooth muscle cells requires p73. Am J Physiol Cell Physiol. 2005; 289(1):C199-206. DOI: 10.1152/ajpcell.00477.2004. View

18.

Kohlhase J, Janssen B, Weidenauer K, Harms K, Bartels I . First confirmed case with paternal uniparental disomy of chromosome 16. Am J Med Genet. 2000; 91(3):190-1. DOI: 10.1002/(sici)1096-8628(20000320)91:3<190::aid-ajmg6>3.0.co;2-i. View

19.

Bittencourt M, Morris M, Chabod J, Gos A, Lamy B, Fellmann F . Fortuitous detection of uniparental isodisomy of chromosome 6. J Med Genet. 1997; 34(1):77-8. PMC: 1050851. DOI: 10.1136/jmg.34.1.77. View

20.

Gondek L, Tiu R, OKeefe C, Sekeres M, Theil K, Maciejewski J . Chromosomal lesions and uniparental disomy detected by SNP arrays in MDS, MDS/MPD, and MDS-derived AML. Blood. 2007; 111(3):1534-42. PMC: 2214746. DOI: 10.1182/blood-2007-05-092304. View