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Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, Holm T, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. <i>Nat Genet<\/i> 2005; 37: 275\u2013281.","DOI":"10.1038\/ng1511"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. <i>N Engl J Med<\/i> 2006; 355: 788\u2013798.","DOI":"10.1056\/NEJMoa055695"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. MacCarrick G, Black JH 3rd, Bowdin S, El-Hamamsy I, Frischmeyer-Guerrerio PA, Guerrerio AL, et al. Loeys-Dietz syndrome: A primer for diagnosis and management. <i>Genet Med<\/i> 2014; 16: 576\u2013587.","DOI":"10.1038\/gim.2014.11"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Meester JAN, Verstraeten A, Schepers D, Alaerts M, Van Laer L, Loeys BL. Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome. <i>Ann Cardiothorac Surg<\/i> 2017; 6: 582\u2013594.","DOI":"10.21037\/acs.2017.11.03"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Takeda N, Komuro I. Genetic basis of hereditary thoracic aortic aneurysms and dissections. <i>J Cardiol<\/i> 2019; 74: 136\u2013143.","DOI":"10.1016\/j.jjcc.2019.03.014"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Goudie DR, D\u2019Alessandro M, Merriman B, Lee H, Szeverenyi I, Avery S, et al. Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1. <i>Nat Genet<\/i> 2011; 43: 365\u2013369.","DOI":"10.1038\/ng.780"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Fujiwara T, Takeda N, Hara H, Morita H, Kishihara J, Inuzuka R, et al. Distinct variants affecting differential splicing of TGFBR1 exon 5 cause either Loeys-Dietz syndrome or multiple self-healing squamous epithelioma. <i>Eur J Hum Genet<\/i> 2018; 26: 1151\u20131158.","DOI":"10.1038\/s41431-018-0127-1"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Hata A, Chen YG. TGF-beta signaling from receptors to Smads. <i>Cold Spring Harb Perspect Biol<\/i> 2016; 8: a022061.","DOI":"10.1101\/cshperspect.a022061"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Jondeau G, Ropers J, Regalado E, Braverman A, Evangelista A, Teixedo G, et al. International registry of patients carrying TGFBR1 or TGFBR2 mutations: Results of the MAC (Montalcino Aortic Consortium). <i>Circ Cardiovasc Genet<\/i> 2016; 9: 548\u2013558.","DOI":"10.1161\/CIRCGENETICS.116.001485"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Gallo EM, Loch DC, Habashi JP, Calderon JF, Chen Y, Bedja D, et al. Angiotensin II-dependent TGF-beta signaling contributes to Loeys-Dietz syndrome vascular pathogenesis. <i>J Clin Invest<\/i> 2014; 124: 448\u2013460.","DOI":"10.1172\/JCI69666"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Cardoso S, Robertson SP, Daniel PB. TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating. <i>J Recept Signal Transduct Res<\/i> 2012; 32: 150\u2013155.","DOI":"10.3109\/10799893.2012.664553"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Horbelt D, Guo G, Robinson PN, Knaus P. Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity. <i>J Cell Sci<\/i> 2010; 123: 4340\u20134350.","DOI":"10.1242\/jcs.074773"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Hara H, Takeda N, Fujiwara T, Yagi H, Maemura S, Kanaya T, et al. Activation of TGF-beta signaling in an aortic aneurysm in a patient with Loeys-Dietz syndrome caused by a novel loss-of-function variant of TGFBR1. <i>Hum Genome Var<\/i> 2019; 6: 6.","DOI":"10.1038\/s41439-019-0038-x"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Akhurst RJ. The paradoxical TGF-beta vasculopathies. <i>Nat Genet<\/i> 2012; 44: 838\u2013839.","DOI":"10.1038\/ng.2366"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Takeda N, Hara H, Fujiwara T, Kanaya T, Maemura S, Komuro I. TGF-beta signaling-related genes and thoracic aortic aneurysms and dissections. <i>Int J Mol Sci<\/i> 2018; 19: E2125.","DOI":"10.3390\/ijms19072125"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. MacFarlane EG, Parker SJ, Shin JY, Kang BE, Ziegler SG, Creamer TJ, et al. Lineage-specific events underlie aortic root aneurysm pathogenesis in Loeys-Dietz syndrome. <i>J Clin Invest<\/i> 2019; 129: 659\u2013675.","DOI":"10.1172\/JCI123547"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Kohn A, Chang C. The relationship between hypermobile Ehlers-Danlos syndrome (hEDS), postural orthostatic tachycardia syndrome (POTS), and mast cell activation syndrome (MCAS). <i>Clin Rev Allergy Immunol<\/i>, doi:10.1007\/s12016-019-08755-8.","DOI":"10.1007\/s12016-019-08755-8"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Takeda N, Inuzuka R, Maemura S, Morita H, Nawata K, Fujita D, et al. Impact of pathogenic FBN1 variant types on the progression of aortic disease in patients with Marfan syndrome. <i>Circ Genom Precis Med<\/i> 2018; 11: e002058.","DOI":"10.1161\/CIRCGEN.118.002321"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Oshima T, Hara H, Takeda N, Hasumi E, Kuroda Y, Taniguchi G, et al. A novel mutation of NFIX causes Sotos-like syndrome (Malan syndrome) complicated with thoracic aortic aneurysm and dissection. <i>Hum Genome Var<\/i> 2017; 4: 17022.","DOI":"10.1038\/hgv.2017.22"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Schanze D, Neubauer D, Cormier-Daire V, Delrue MA, Dieux-Coeslier A, Hasegawa T, et al. Deletions in the 3\u2018 part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome. <i>Hum Mutat<\/i> 2014; 35: 1092\u20131100.","DOI":"10.1002\/humu.22603"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. Takeshima Y, Yagi M, Okizuka Y, Awano H, Zhang Z, Yamauchi Y, et al. Mutation spectrum of the dystrophin gene in 442 Duchenne\/Becker muscular dystrophy cases from one Japanese referral center. <i>J Hum Genet<\/i> 2010; 55: 379\u2013388.","DOI":"10.1038\/jhg.2010.49"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. McNally EM, Wyatt EJ. Mutation-based therapy for Duchenne muscular dystrophy: Antisense treatment arrives in the clinic. <i>Circulation<\/i> 2017; 136: 979\u2013981.","DOI":"10.1161\/CIRCULATIONAHA.117.028382"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23. Long C, Li H, Tiburcy M, Rodriguez-Caycedo C, Kyrychenko V, Zhou H, et al. Correction of diverse muscular dystrophy mutations in human engineered heart muscle by single-site genome editing. <i>Sci Adv<\/i> 2018; 4: eaap9004.","DOI":"10.1126\/sciadv.aap9004"},{"key":"24","doi-asserted-by":"crossref","unstructured":"24. Akimoto S, Suzuki JI, Aoyama N, Ikeuchi R, Watanabe H, Tsujimoto H, et al. A novel bioabsorbable sheet that delivers NF-kappaB decoy oligonucleotide restrains abdominal aortic aneurysm development in rats. <i>Int Heart J<\/i> 2018; 59: 1134\u20131141.","DOI":"10.1536\/ihj.17-632"},{"key":"25","doi-asserted-by":"crossref","unstructured":"25. Hosaka K, Manfredsson FP, Hoh BL. 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