Collod-Beroud G, Le Bourdelles S, Ades L, Ala-Kokko L, Booms P, Boxer M, et al. Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Hum Mutat. 2003;22(3):199–208.
Article
PubMed
CAS
Google Scholar
Franken R, Groenink M, de Waard V, Feenstra HM, Scholte AJ, van den Berg MP, et al. Genotype impacts survival in Marfan syndrome. Eur Heart J. 2016;37(43):3285–90.
Article
PubMed
CAS
Google Scholar
Franken R, Teixido-Tura G, Brion M, Forteza A, Rodriguez-Palomares J, Gutierrez L, et al. Relationship between fibrillin-1 genotype and severity of cardiovascular involvement in Marfan syndrome. Heart (Br Cardiac Soc). 2017;103(22):1795–9.
CAS
Google Scholar
Franken R, Heesterbeek TJ, de Waard V, Zwinderman AH, Pals G, Mulder BJM, et al. Diagnosis and genetics of Marfan syndrome. Expert Opin Orphan Drugs. 2014;2(10):1049–62.
Article
CAS
Google Scholar
Franken R, den Hartog AW, Radonic T, Micha D, Maugeri A, van Dijk FS, et al. Beneficial outcome of losartan therapy depends on Type of FBN1 mutation in Marfan syndrome. Circ Cardiovasc Genet. 2015;8(2):383–8.
Article
PubMed
CAS
Google Scholar
Arnaud P, Milleron O, Hanna N, Ropers J, Ould Ouali N, Affoune A, et al. Clinical relevance of genotype-phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants. Genet Med Off J Am College Med Genet. 2021.
Benarroch L, Aubart M, Gross MS, Arnaud P, Hanna N, Jondeau G, et al. Reference expression profile of three FBN1 transcript isoforms and their association with clinical variability in Marfan syndrome. Genes (Basel). 2019;10(2):128.
Article
CAS
Google Scholar
Aubart M, Gross MS, Hanna N, Zabot MT, Sznajder M, Detaint D, et al. The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele. Hum Mol Genet. 2015;24(10):2764–70.
Article
PubMed
CAS
Google Scholar
Aubart M, Gazal S, Arnaud P, Benarroch L, Gross MS, Buratti J, et al. Association of modifiers and other genetic factors explain Marfan syndrome clinical variability. Eur J Hum Genet EJHG. 2018;26(12):1759–72.
Article
PubMed
CAS
Google Scholar
Mordi IR, Forsythe RO, Gellatly C, Iskandar Z, McBride OM, Saratzis A, et al. Plasma desmosine and abdominal aortic aneurysm disease. J Am Heart Assoc. 2019;8(20):e013743.
Article
PubMed
PubMed Central
Google Scholar
Franken R, den Hartog AW, de Waard V, Engele L, Radonic T, Lutter R, et al. Circulating transforming growth factor-beta as a prognostic biomarker in Marfan syndrome. Int J Cardiol. 2013;168(3):2441–6.
Article
PubMed
Google Scholar
Yin X, Wanga S, Fellows AL, Barallobre-Barreiro J, Lu R, Davaapil H, et al. Glycoproteomic analysis of the aortic extracellular matrix in Marfan patients. Arterioscler Thromb Vasc Biol. 2019;39(9):1859–73.
Article
PubMed
PubMed Central
CAS
Google Scholar
Benke K, Ágg B, Mátyás G, Szokolai V, Harsányi G, Szilveszter B, et al. Gene polymorphisms as risk factors for predicting the cardiovascular manifestations in Marfan syndrome. Role of folic acid metabolism enzyme gene polymorphisms in Marfan syndrome. Thromb Haemost. 2015;114(4):748–56.
PubMed
Google Scholar
Arai Y, Umeyama K, Takeuchi K, Okazaki N, Hichiwa N, Yashima S, et al. Establishment of DNA methylation patterns of the Fibrillin1 (FBN1) gene in porcine embryos and tissues. J Reprod Dev. 2017;63(2):157–65.
Article
PubMed
PubMed Central
CAS
Google Scholar
Koroknai V, Szász I, Hernandez-Vargas H, Fernandez-Jimenez N, Cuenin C, Herceg Z, et al. DNA hypermethylation is associated with invasive phenotype of malignant melanoma. Exp Dermatol. 2020;29(1):39–50.
Article
PubMed
CAS
Google Scholar
Sharma P, Bhunia S, Poojary SS, Tekcham DS, Barbhuiya MA, Gupta S, et al. Global methylation profiling to identify epigenetic signature of gallbladder cancer and gallstone disease. Tumour Biol. 2016;37(11):14687–99.
Article
PubMed
CAS
Google Scholar
Li WH, Zhang H, Guo Q, Wu XD, Xu ZS, Dang CX, et al. Detection of SNCA and FBN1 methylation in the stool as a biomarker for colorectal cancer. Dis Markers. 2015;2015:657570.
Article
PubMed
PubMed Central
Google Scholar
Groenink M, den Hartog AW, Franken R, Radonic T, de Waard V, Timmermans J, et al. Losartan reduces aortic dilatation rate in adults with Marfan syndrome: a randomized controlled trial. Eur Heart J. 2013;34(45):3491–500.
Article
PubMed
CAS
Google Scholar
Radonic T, de Witte P, Baars MJ, Zwinderman AH, Mulder BJ, Groenink M. Losartan therapy in adults with Marfan syndrome: study protocol of the multi-center randomized controlled COMPARE trial. Trials. 2010;11:3.
Article
PubMed
PubMed Central
Google Scholar
Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010;47(7):476–85.
Article
PubMed
CAS
Google Scholar
van Andel MM, Indrakusuma R, Jalalzadeh H, Balm R, Timmermans J, Scholte AJ, et al. Long-term clinical outcomes of losartan in patients with Marfan syndrome: follow-up of the multicentre randomized controlled COMPARE trial. Eur Heart J. 2020;41(43):4181–7.
Article
PubMed
PubMed Central
Google Scholar
Houseman EA, Accomando WP, Koestler DC, Christensen BC, Marsit CJ, Nelson HH, et al. DNA methylation arrays as surrogate measures of cell mixture distribution. BMC Bioinform. 2012;13:86.
Article
Google Scholar
Echarri A, Pavón DM, Sánchez S, García-García M, Calvo E, Huerta-López C, et al. An Abl-FBP17 mechanosensing system couples local plasma membrane curvature and stress fiber remodeling during mechanoadaptation. Nat Commun. 2019;10(1):5828.
Article
PubMed
PubMed Central
CAS
Google Scholar
Rai A, Bleimling N, Vetter IR, Goody RS. The mechanism of activation of the actin binding protein EHBP1 by Rab8 family members. Nat Commun. 2020;11(1):4187.
Article
PubMed
PubMed Central
Google Scholar
Kaufman L, Potla U, Coleman S, Dikiy S, Hata Y, Kurihara H, et al. Up-regulation of the homophilic adhesion molecule sidekick-1 in podocytes contributes to glomerulosclerosis. J Biol Chem. 2010;285(33):25677–85.
Article
PubMed
PubMed Central
CAS
Google Scholar
Wang Z, Peng T, Wu H, He J, Li H. HAP1 helps to regulate actin-based transport of insulin-containing granules in pancreatic β cells. Histochem Cell Biol. 2015;144(1):39–48.
Article
PubMed
CAS
Google Scholar
Crosas-Molist E, Meirelles T, Lopez-Luque J, Serra-Peinado C, Selva J, Caja L, et al. Vascular smooth muscle cell phenotypic changes in patients with Marfan syndrome. Arterioscler Thromb Vasc Biol. 2015;35(4):960–72.
Article
PubMed
CAS
Google Scholar
Humphrey JD, Schwartz MA, Tellides G, Milewicz DM. Role of mechanotransduction in vascular biology: focus on thoracic aortic aneurysms and dissections. Circ Res. 2015;116(8):1448–61.
Article
PubMed
PubMed Central
CAS
Google Scholar
Hohl M, Wagner M, Reil JC, Müller SA, Tauchnitz M, Zimmer AM, et al. HDAC4 controls histone methylation in response to elevated cardiac load. J Clin Investig. 2013;123(3):1359–70.
Article
PubMed
PubMed Central
CAS
Google Scholar
Mathias RA, Guise AJ, Cristea IM. Post-translational modifications regulate class IIa histone deacetylase (HDAC) function in health and disease. Mol Cell Proteomics. 2015;14(3):456–70.
Article
PubMed
PubMed Central
CAS
Google Scholar
Nagarajan N, Oka S, Sadoshima J. Modulation of signaling mechanisms in the heart by thioredoxin 1. Free Radical Biol Med. 2017;109:125–31.
Article
CAS
Google Scholar
Wang Y, Hu G, Liu F, Wang X, Wu M, Schwarz JJ, et al. Deletion of yes-associated protein (YAP) specifically in cardiac and vascular smooth muscle cells reveals a crucial role for YAP in mouse cardiovascular development. Circ Res. 2014;114(6):957–65.
Article
PubMed
PubMed Central
CAS
Google Scholar
Usui T, Morita T, Okada M, Yamawaki H. Histone deacetylase 4 controls neointimal hyperplasia via stimulating proliferation and migration of vascular smooth muscle cells. Hypertension. 2014;63(2):397–403.
Article
PubMed
CAS
Google Scholar
Zhang B, Dong Y, Liu M, Yang L, Zhao Z. miR-149-5p inhibits vascular smooth muscle cells proliferation, invasion, and migration by targeting histone deacetylase 4 (HDAC4). Med Sci Monit. 2019;25:7581–90.
Article
PubMed
PubMed Central
CAS
Google Scholar
Li Y, Li L, Qian Z, Lin B, Chen J, Luo Y, et al. Phosphatidylinositol 3-kinase-DNA methyltransferase 1-miR-1281-Histone Deacetylase 4 regulatory axis mediates platelet-derived growth factor-induced proliferation and migration of pulmonary artery smooth muscle cells. J Am Heart Assoc. 2018;7(6):e007572.
Article
PubMed
PubMed Central
Google Scholar
Abend A, Shkedi O, Fertouk M, Caspi LH, Kehat I. Salt-inducible kinase induces cytoplasmic histone deacetylase 4 to promote vascular calcification. EMBO Rep. 2017;18(7):1166–85.
Article
PubMed
PubMed Central
CAS
Google Scholar
Kim GR, Cho SN, Kim HS, Yu SY, Choi SY, Ryu Y, et al. Histone deacetylase and GATA-binding factor 6 regulate arterial remodeling in angiotensin II-induced hypertension. J Hypertens. 2016;34(11):2206–19.
Article
PubMed
CAS
Google Scholar
Pedroza AJ, Tashima Y, Shad R, Cheng P, Wirka R, Churovich S, et al. Single-cell transcriptomic profiling of vascular smooth muscle cell phenotype modulation in Marfan syndrome aortic aneurysm. Arterioscler Thromb Vasc Biol. 2020;40:2195–211.
Article
PubMed
PubMed Central
CAS
Google Scholar
Li Y, Ren P, Dawson A, Vasquez HG, Ageedi W, Zhang C, et al. Single-cell transcriptome analysis reveals dynamic cell populations and differential gene expression patterns in control and aneurysmal human aortic tissue. Circulation. 2020;142(14):1374–88.
Article
PubMed
PubMed Central
CAS
Google Scholar
Wang Z, Cui M, Shah AM, Ye W, Tan W, Min YL, et al. Mechanistic basis of neonatal heart regeneration revealed by transcriptome and histone modification profiling. Proc Natl Acad Sci USA. 2019;116(37):18455–65.
Article
PubMed
PubMed Central
CAS
Google Scholar
Akerberg AA, Burns CE, Burns CG. Exploring the activities of RBPMS proteins in myocardial biology. Pediatr Cardiol. 2019;40(7):1410–8.
Article
PubMed
PubMed Central
Google Scholar
Huang RT, Xue S, Wang J, Gu JY, Xu JH, Li YJ, et al. CASZ1 loss-of-function mutation associated with congenital heart disease. Gene. 2016;595(1):62–8.
Article
PubMed
CAS
Google Scholar
Su W, Wang RC, Lohano MK, Wang L, Zhu P, Luo Y, et al. Identification of two mutations in PCDHGA4 and SLFN14 genes in an atrial septal defect family. Curr Med Sci. 2018;38(6):989–96.
Article
PubMed
CAS
Google Scholar
Oguri M, Kato K, Yokoi K, Yoshida T, Watanabe S, Metoki N, et al. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. Am J Hypertens. 2010;23(1):70–7.
Article
PubMed
Google Scholar
Takeuchi F, Isono M, Katsuya T, Yamamoto K, Yokota M, Sugiyama T, et al. Blood pressure and hypertension are associated with 7 loci in the Japanese population. Circulation. 2010;121(21):2302–9.
Article
PubMed
Google Scholar
Xie G, Myint PK, Voora D, Laskowitz DT, Shi P, Ren F, et al. Genome-wide association study on progression of carotid artery intima media thickness over 10 years in a Chinese cohort. Atherosclerosis. 2015;243(1):30–7.
Article
PubMed
CAS
Google Scholar
Neves JS, Vale C, von Hafe M, Borges-Canha M, Leite AR, Almeida-Coelho J, et al. Thyroid hormones and modulation of diastolic function: a promising target for heart failure with preserved ejection fraction. Ther Adv Endocrinol Metab. 2020;11:2042018820958331.
Article
PubMed
PubMed Central
CAS
Google Scholar
Pol CJ, Muller A, Simonides WS. Cardiomyocyte-specific inactivation of thyroid hormone in pathologic ventricular hypertrophy: an adaptative response or part of the problem? Heart Fail Rev. 2010;15(2):133–42.
Article
PubMed
CAS
Google Scholar
Ali MM, Naquiallah D, Qureshi M, Mirza MI, Hassan C, Masrur M, et al. DNA methylation profile of genes involved in inflammation and autoimmunity correlates with vascular function in morbidly obese adults. Epigenetics. 2021:1–17.
Takata M, Amiya E, Watanabe M, Omori K, Imai Y, Fujita D, et al. Impairment of flow-mediated dilation correlates with aortic dilation in patients with Marfan syndrome. Heart Vessels. 2014;29(4):478–85.
Article
PubMed
Google Scholar
Lomeli O, Perez-Torres I, Marquez R, Criales S, Mejia AM, Chiney C, et al. The evaluation of flow-mediated vasodilation in the brachial artery correlates with endothelial dysfunction evaluated by nitric oxide synthase metabolites in Marfan syndrome patients. Front Physiol. 2018;9:965.
Article
PubMed
PubMed Central
Google Scholar
Chen PY, Chu A, Liao WW, Rubbi L, Janzen C, Hsu FM, et al. Prenatal growth patterns and birthweight are associated with differential DNA methylation and gene expression of cardiometabolic risk genes in human placentas: a discovery-based approach. Reprod Sci. 2018;25(4):523–39.
Article
PubMed
CAS
Google Scholar
Agha G, Mendelson MM, Ward-Caviness CK, Joehanes R, Huan T, Gondalia R, et al. Blood leukocyte DNA methylation predicts risk of future myocardial infarction and coronary heart disease. Circulation. 2019;140(8):645–57.
Article
PubMed
PubMed Central
CAS
Google Scholar
Wang L, Hauser ER, Shah SH, Seo D, Sivashanmugam P, Exum ST, et al. Polymorphisms of the tumor suppressor gene LSAMP are associated with left main coronary artery disease. Ann Hum Genet. 2008;72(Pt 4):443–53.
Article
PubMed
PubMed Central
CAS
Google Scholar
Dungan JR, Qin X, Horne BD, Carlquist JF, Singh A, Hurdle M, et al. Case-only survival analysis reveals unique effects of genotype, sex, and coronary disease severity on survivorship. PLoS ONE. 2016;11(5):e0154856.
Article
PubMed
PubMed Central
Google Scholar
Grossman TR, Gamliel A, Wessells RJ, Taghli-Lamallem O, Jepsen K, Ocorr K, et al. Over-expression of DSCAM and COL6A2 cooperatively generates congenital heart defects. PLoS Genet. 2011;7(11):e1002344.
Article
PubMed
PubMed Central
CAS
Google Scholar
Pelleri MC, Gennari E, Locatelli C, Piovesan A, Caracausi M, Antonaros F, et al. Genotype-phenotype correlation for congenital heart disease in Down syndrome through analysis of partial trisomy 21 cases. Genomics. 2017;109(5–6):391–400.
Article
PubMed
CAS
Google Scholar
Gileta AF, Helgeson ML, Leonard JMM, Pyle LC, Subramanian HP, Arndt K, et al. Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variants. Am J Med Genet A. 2021;185(3):889–93.
Article
PubMed
CAS
Google Scholar
Dimopoulos A, Sicko RJ, Kay DM, Rigler SL, Druschel CM, Caggana M, et al. Rare copy number variants in a population-based investigation of hypoplastic right heart syndrome. Birth Defects Res. 2017;109(1):8–15.
Article
PubMed
PubMed Central
CAS
Google Scholar
Padget RL, Mohite SS, Hoog TG, Justis BS, Green BE, Udan RS. Hemodynamic force is required for vascular smooth muscle cell recruitment to blood vessels during mouse embryonic development. Mech Dev. 2019;156:8–19.
Article
PubMed
CAS
Google Scholar
Bergwerff M, Gittenberger-de Groot AC, Wisse LJ, DeRuiter MC, Wessels A, Martin JF, et al. Loss of function of the Prx1 and Prx2 homeobox genes alters architecture of the great elastic arteries and ductus arteriosus. Virchows Arch. 2000;436(1):12–9.
Article
PubMed
CAS
Google Scholar
Chen X, Gao B, Ponnusamy M, Lin Z, Liu J. MEF2 signaling and human diseases. Oncotarget. 2017;8(67):112152–65.
Article
PubMed
PubMed Central
Google Scholar
Liao YC, Lo SH. Tensins—emerging insights into their domain functions, biological roles and disease relevance. J Cell Sci. 2021;134(4):jcs254029.
Article
PubMed
CAS
Google Scholar
Dina C, Bouatia-Naji N, Tucker N, Delling FN, Toomer K, Durst R, et al. Genetic association analyses highlight biological pathways underlying mitral valve prolapse. Nat Genet. 2015;47(10):1206–11.
Article
PubMed
PubMed Central
CAS
Google Scholar
Kyryachenko S, Georges A, Yu M, Berrandou T, Guo L, Bruneval P, et al. Chromatin accessibility of human mitral valves and functional assessment of MVP risk loci. Circ Res. 2021;128(5):e84–101.
Article
PubMed
CAS
Google Scholar
Rybczynski M, Mir TS, Sheikhzadeh S, Bernhardt AM, Schad C, Treede H, et al. Frequency and age-related course of mitral valve dysfunction in the Marfan syndrome. Am J Cardiol. 2010;106(7):1048–53.
Article
PubMed
Google Scholar
Schunkert H, König IR, Kathiresan S, Reilly MP, Assimes TL, Holm H, et al. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet. 2011;43(4):333–8.
Article
PubMed
PubMed Central
CAS
Google Scholar
Aravani D, Morris GE, Jones PD, Tattersall HK, Karamanavi E, Kaiser MA, et al. HHIPL1, a gene at the 14q32 coronary artery disease locus, positively regulates hedgehog signaling and promotes atherosclerosis. Circulation. 2019;140(6):500–13.
Article
PubMed
PubMed Central
CAS
Google Scholar
Meester JAN, Verstraeten A, Alaerts M, Schepers D, Van Laer L, Loeys BL. Overlapping but distinct roles for NOTCH receptors in human cardiovascular disease. Clin Genet. 2019;95(1):85–94.
Article
PubMed
CAS
Google Scholar
Baldini A, Fulcoli FG, Illingworth E. Tbx1: transcriptional and developmental functions. Curr Top Dev Biol. 2017;122:223–43.
Article
PubMed
CAS
Google Scholar
Pancho A, Aerts T, Mitsogiannis MD, Seuntjens E. Protocadherins at the crossroad of signaling pathways. Front Mol Neurosci. 2020;13:117.
Article
PubMed
PubMed Central
CAS
Google Scholar
Tsai TY, Sikora M, Xia P, Colak-Champollion T, Knaut H, Heisenberg CP, et al. An adhesion code ensures robust pattern formation during tissue morphogenesis. Science (New York, NY). 2020;370(6512):113–6.
Article
CAS
Google Scholar
Yagi H, Liu X, Gabriel GC, Wu Y, Peterson K, Murray SA, et al. The genetic landscape of hypoplastic left heart syndrome. Pediatr Cardiol. 2018;39(6):1069–81.
Article
PubMed
PubMed Central
Google Scholar
Ortega A, Gil-Cayuela C, Tarazón E, García-Manzanares M, Montero JA, Cinca J, et al. New cell adhesion molecules in human ischemic cardiomyopathy. PCDHGA3 implications in decreased stroke volume and ventricular dysfunction. PLoS ONE. 2016;11(7):e0160168.
Article
PubMed
PubMed Central
Google Scholar
Quijada P, Trembley MA, Small EM. The role of the epicardium during heart development and repair. Circ Res. 2020;126(3):377–94.
Article
PubMed
PubMed Central
CAS
Google Scholar
Hong Y, Kim WJ. DNA methylation markers in lung cancer. Curr Genom. 2021;22(2):79–87.
Article
CAS
Google Scholar
Domingo-Relloso A, Huan T, Haack K, Riffo-Campos AL, Levy D, Fallin MD, et al. DNA methylation and cancer incidence: lymphatic-hematopoietic versus solid cancers in the Strong Heart Study. Clin Epigenet. 2021;13(1):43.
Article
CAS
Google Scholar
Bitterman AD, Sponseller PD. Marfan syndrome: a clinical update. J Am Acad Orthop Surg. 2017;25(9):603–9.
Article
PubMed
Google Scholar
Stanley S, Balic Z, Hubmacher D. Acromelic dysplasias: how rare musculoskeletal disorders reveal biological functions of extracellular matrix proteins. Ann N Y Acad Sci. 2021;1490(1):57–76.
Article
PubMed
Google Scholar
Sponseller PD, Hobbs W, Riley LH 3rd, Pyeritz RE. The thoracolumbar spine in Marfan syndrome. J Bone Joint Surg Am. 1995;77(6):867–76.
Article
PubMed
CAS
Google Scholar
Kato N, Loh M, Takeuchi F, Verweij N, Wang X, Zhang W, et al. Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation. Nat Genet. 2015;47(11):1282–93.
Article
PubMed
PubMed Central
CAS
Google Scholar
Meder B, Haas J, Sedaghat-Hamedani F, Kayvanpour E, Frese K, Lai A, et al. Epigenome-wide association study identifies cardiac gene patterning and a novel class of biomarkers for heart failure. Circulation. 2017;136(16):1528–44.
Article
PubMed
CAS
Google Scholar