Giải trình tự exome xác định các yếu tố di truyền có khả năng điều chỉnh mức độ nghiêm trọng của phình động mạch chủ ngực có triệu chứng và gia đình

Kochanek, K. D., Murphy, S. L., & Xu, J. (2015). Deaths: final data for 2011. National Vital Statistics Reports, 63(3), 1–120. Hiratzka, L. F., Bakris, G. L., Beckman, J. A., Bersin, R. M., Carr, V. F., Casey Jr., D. E., et al. (2010). 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with thoracic aortic disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine. Circulation, 121(13), e266–e369. doi:10.1161/CIR.0b013e3181d4739e. Pape, L. A., Tsai, T. T., Isselbacher, E. M., Oh, J. K., O’Gara, P. T., Evangelista, A., et al. (2007). Aortic diameter >or = 5.5 cm is not a good predictor of type A aortic dissection: observations from the International Registry of Acute Aortic Dissection (IRAD). Circulation, 116(10), 1120–1127. doi:10.1161/circulationaha.107.702720. Dietz, H. C., Cutting, G. R., Pyeritz, R. E., Maslen, C. L., Sakai, L. Y., Corson, G. M., et al. (1991). Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature, 352(6333), 337–339. doi:10.1038/352337a0. Loeys, B. L., Schwarze, U., Holm, T., Callewaert, B. L., Thomas, G. H., Pannu, H., et al. (2006). Aneurysm syndromes caused by mutations in the TGF-beta receptor. The New England Journal of Medicine, 355(8), 788–798. doi:10.1056/NEJMoa055695. Superti-Furga, A., Steinmann, B., Ramirez, F., & Byers, P. H. (1989). Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV. Human Genetics, 82(2), 104–108. Milewicz, D. M., Trybus, K. M., Guo, D. C., Sweeney, H. L., Regalado, E., Kamm, K., et al. (2017). Altered smooth muscle cell force generation as a driver of thoracic aortic aneurysms and dissections. Arteriosclerosis, Thrombosis, and Vascular Biology, 37(1), 26–34. doi:10.1161/atvbaha.116.303229. Faivre, L., Collod-Beroud, G., Loeys, B. L., Child, A., Binquet, C., Gautier, E., et al. (2007). Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. American Journal of Human Genetics, 81(3), 454–466. doi:10.1086/520125. Milewicz, D. M., & Regalado, E. S. (2015). Use of genetics for personalized management of heritable thoracic aortic disease: how do we get there? The Journal of Thoracic and Cardiovascular Surgery, 149(2 Suppl), S3–S5. doi:10.1016/j.jtcvs.2014.07.070. Landis, B. J., Ware, S. M., James, J., Shikany, A. R., Martin, L. J., & Hinton, R. B. (2015). Clinical stratification of pediatric patients with idiopathic thoracic aortic aneurysm. The Journal of Pediatrics, 167(1), 131–137.e131-135. doi:10.1016/j.jpeds.2015.02.042. Colan, S. D., McElhinney, D. B., Crawford, E. C., Keane, J. F., & Lock, J. E. (2006). Validation and re-evaluation of a discriminant model predicting anatomic suitability for biventricular repair in neonates with aortic stenosis. Journal of the American College of Cardiology, 47(9), 1858–1865. doi:10.1016/j.jacc.2006.02.020. Lopez, L., Colan, S. D., Frommelt, P. C., Ensing, G. J., Kendall, K., Younoszai, A. K., et al. (2010). Recommendations for quantification methods during the performance of a pediatric echocardiogram: a report from the Pediatric Measurements Writing Group of the American Society of Echocardiography Pediatric and Congenital Heart Disease Council. Journal of the American Society of Echocardiography, 23(5), 465–495; quiz 576-467. doi:10.1016/j.echo.2010.03.019. Chen, J., Bardes, E. E., Aronow, B. J., & Jegga, A. G. (2009). ToppGene Suite for gene list enrichment analysis and candidate gene prioritization. Nucleic Acids Research, 37(Web Server issue), W305–W311. doi:10.1093/nar/gkp427. Lee, S., Emond, M. J., Bamshad, M. J., Barnes, K. C., Rieder, M. J., Nickerson, D. A., et al. (2012). Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies. American Journal of Human Genetics, 91(2), 224–237. doi:10.1016/j.ajhg.2012.06.007. Farlow, J. L., Robak, L. A., Hetrick, K., Bowling, K., Boerwinkle, E., Coban-Akdemir, Z. H., et al. (2016). Whole-exome sequencing in familial Parkinson disease. JAMA Neurology, 73(1), 68–75. doi:10.1001/jamaneurol.2015.3266. Loeys, B. L., Dietz, H. C., Braverman, A. C., Callewaert, B. L., De Backer, J., Devereux, R. B., et al. (2010). The revised Ghent nosology for the Marfan syndrome. Journal of Medical Genetics, 47(7), 476–485. doi:10.1136/jmg.2009.072785. Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., et al. (2015). Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine, 17(5), 405–424. doi:10.1038/gim.2015.30. Schubert, J. A., Landis, B. J., Shikany, A. R., Hinton, R. B., & Ware, S. M. (2016). Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing. American Journal of Medical Genetics. Part A, 170(5), 1288–1294. doi:10.1002/ajmg.a.37568. Halme, T., Savunen, T., Aho, H., Vihersaari, T., & Penttinen, R. (1985). Elastin and collagen in the aortic wall: changes in the Marfan syndrome and annuloaortic ectasia. Experimental and Molecular Pathology, 43(1), 1–12. Wang, X., LeMaire, S. A., Chen, L., Shen, Y. H., Gan, Y., Bartsch, H., et al. (2006). Increased collagen deposition and elevated expression of connective tissue growth factor in human thoracic aortic dissection. Circulation, 114(1 Suppl), I200–I205. doi:10.1161/circulationaha.105.000240. Maleszewski, J. J., Miller, D. V., Lu, J., Dietz, H. C., & Halushka, M. K. (2009). Histopathologic findings in ascending aortas from individuals with Loeys-Dietz syndrome (LDS). The American Journal of Surgical Pathology, 33(2), 194–201. doi:10.1097/PAS.0b013e31817f3661. Marneros, A. G., & Olsen, B. R. (2001). The role of collagen-derived proteolytic fragments in angiogenesis. Matrix Biology, 20(5–6), 337–345. Ware, S. M., Shikany, A., Landis, B. J., James, J. F., & Hinton, R. B. (2014). Twins with progressive thoracic aortic aneurysm, recurrent dissection and ACTA2 mutation. Pediatrics, 134(4), e1218–e1223. doi:10.1542/peds.2013-2503. Korkmaz, E., Lipska-Zietkiewicz, B. S., Boyer, O., Gribouval, O., Fourrage, C., Tabatabaei, M., et al. (2016). ADCK4-associated glomerulopathy causes adolescence-onset FSGS. Journal of the American Society of Nephrology, 27(1), 63–68. doi:10.1681/asn.2014121240. Duvvari, M. R., van de Ven, J. P., Geerlings, M. J., Saksens, N. T., Bakker, B., Henkes, A., et al. (2016). Whole exome sequencing in patients with the cuticular drusen subtype of age-related macular degeneration. PloS One, 11(3), e0152047. doi:10.1371/journal.pone.0152047. Brunetti-Pierri, N., Pignatelli, R., Fouladi, N., Towbin, J. A., Belmont, J. W., Craigen, W. J., et al. (2011). Dilation of the aortic root in mitochondrial disease patients. Molecular Genetics and Metabolism, 103(2), 167–170. doi:10.1016/j.ymgme.2011.02.007. Emrich, F. C., Okamura, H., Dalal, A. R., Penov, K., Merk, D. R., Raaz, U., et al. (2015). Enhanced caspase activity contributes to aortic wall remodeling and early aneurysm development in a murine model of Marfan syndrome. Arteriosclerosis, Thrombosis, and Vascular Biology, 35(1), 146–154. doi:10.1161/atvbaha.114.304364. Kuang, S. Q., Medina-Martinez, O., Guo, D. C., Gong, L., Regalado, E. S., Reynolds, C. L., et al. (2016). FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. The Journal of Clinical Investigation, 126(3), 948–961. doi:10.1172/jci83778. Yang, H. H., van Breemen, C., & Chung, A. W. (2010). Vasomotor dysfunction in the thoracic aorta of Marfan syndrome is associated with accumulation of oxidative stress. Vascular Pharmacology, 52(1–2), 37–45. doi:10.1016/j.vph.2009.10.005. Branchetti, E., Poggio, P., Sainger, R., Shang, E., Grau, J. B., Jackson, B. M., et al. (2013). Oxidative stress modulates vascular smooth muscle cell phenotype via CTGF in thoracic aortic aneurysm. Cardiovascular Research, 100(2), 316–324. doi:10.1093/cvr/cvt205. Lee, Y. C., Huang, H. Y., Chang, C. J., Cheng, C. H., & Chen, Y. T. (2010). Mitochondrial GLUT10 facilitates dehydroascorbic acid import and protects cells against oxidative stress: mechanistic insight into arterial tortuosity syndrome. Human Molecular Genetics, 19(19), 3721–3733. doi:10.1093/hmg/ddq286. Ashraf, S., Gee, H. Y., Woerner, S., Xie, L. X., Vega-Warner, V., Lovric, S., et al. (2013). ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. The Journal of Clinical Investigation, 123(12), 5179–5189. doi:10.1172/jci69000. Harper, A. R., Nayee, S., & Topol, E. J. (2015). Protective alleles and modifier variants in human health and disease. Nature Reviews. Genetics, 16(12), 689–701. doi:10.1038/nrg4017. Zilberberg, L., Phoon, C. K., Robertson, I., Dabovic, B., Ramirez, F., & Rifkin, D. B. (2015). Genetic analysis of the contribution of LTBP-3 to thoracic aneurysm in Marfan syndrome. Proceedings of the National Academy of Sciences of the United States of America, 112(45), 14012–14017. doi:10.1073/pnas.1507652112. Miles, L. A., Garippa, R. J., & Poirier, J. T. (2016). Design, execution, and analysis of pooled in vitro CRISPR/Cas9 screens. The FEBS Journal, 283(17), 3170–3180. doi:10.1111/febs.13770.