{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T21:12:52Z","timestamp":1788556372416,"version":"build-2803163510"},"reference-count":73,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2026,12,1]],"date-time":"2026-12-01T00:00:00Z","timestamp":1796083200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,12,1]],"date-time":"2026-12-01T00:00:00Z","timestamp":1796083200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,8,30]],"date-time":"2026-08-30T00:00:00Z","timestamp":1788048000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000780","name":"European Commission","doi-asserted-by":"publisher","award":["RRF-2.3.1\\u201321\\u20132022-00003"],"award-info":[{"award-number":["RRF-2.3.1\\u201321\\u20132022-00003"]}],"id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003827","name":"Nemzeti Kutat\u00e1si Fejleszt\u00e9si \u00e9s Innov\u00e1ci\u00f3s Hivatal","doi-asserted-by":"publisher","award":["K150826"],"award-info":[{"award-number":["K150826"]}],"id":[{"id":"10.13039\/501100003827","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003827","name":"Nemzeti Kutat\u00e1si Fejleszt\u00e9si \u00e9s Innov\u00e1ci\u00f3s Hivatal","doi-asserted-by":"publisher","award":["2020\\u20132.1.1-ED-2024-00292\/EUniWell"],"award-info":[{"award-number":["2020\\u20132.1.1-ED-2024-00292\/EUniWell"]}],"id":[{"id":"10.13039\/501100003827","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003827","name":"Nemzeti Kutat\u00e1si Fejleszt\u00e9si \u00e9s Innov\u00e1ci\u00f3s Hivatal","doi-asserted-by":"publisher","award":["EK\\u00D6P-2025-328"],"award-info":[{"award-number":["EK\\u00D6P-2025-328"]}],"id":[{"id":"10.13039\/501100003827","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003827","name":"Nemzeti Kutat\u00e1si Fejleszt\u00e9si \u00e9s Innov\u00e1ci\u00f3s Hivatal","doi-asserted-by":"publisher","award":["FK145928"],"award-info":[{"award-number":["FK145928"]}],"id":[{"id":"10.13039\/501100003827","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003825","name":"Hungarian Academy of Sciences","doi-asserted-by":"publisher","award":["BO\/00242\/24"],"award-info":[{"award-number":["BO\/00242\/24"]}],"id":[{"id":"10.13039\/501100003825","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011019","name":"Nemzeti Kutat\u00e1si Fejleszt\u00e9si \u00e9s Innov\u00e1ci\u00f3s Hivatal","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100011019","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012550","name":"Nemzeti Kutat\u00e1si, Fejleszt\u00e9si \u00e9s Innovaci\u00f3s Alap","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012550","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Matrix Biology Plus"],"published-print":{"date-parts":[[2026,12]]},"DOI":"10.1016\/j.mbplus.2026.100205","type":"journal-article","created":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T15:39:52Z","timestamp":1788190792000},"page":"100205","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["Genotype-associated structural and nanomechanical alterations of aortic fibrillin-1 microfibrils in Marfan syndrome"],"prefix":"10.1016","volume":"32","author":[{"given":"Cristina M.","family":"\u0218ulea","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominik","family":"Sziklai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e1lint","family":"Kiss","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K\u00e1lm\u00e1n","family":"Benke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikl\u00f3s","family":"P\u00f3los","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bence","family":"\u00c1gg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roland","family":"Stengl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e1t\u00e9","family":"Csonka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zolt\u00e1n","family":"Szabolcs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikl\u00f3s S.Z.","family":"Kellermayer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"9501","key":"10.1016\/j.mbplus.2026.100205_bb0010","doi-asserted-by":"crossref","first-page":"1965","DOI":"10.1016\/S0140-6736(05)67789-6","article-title":"Marfan\u2019s syndrome","volume":"366","author":"Judge","year":"2005","journal-title":"Lancet"},{"issue":"1","key":"10.1016\/j.mbplus.2026.100205_bb0015","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1186\/s13023-021-01882-6","article-title":"Potential predictors of severe cardiovascular involvement in Marfan syndrome: the emphasized role of genotype-phenotype correlations in improving risk stratification-a literature review","volume":"16","author":"Stengl","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"issue":"Pt 3","key":"10.1016\/j.mbplus.2026.100205_bb0020","doi-asserted-by":"crossref","first-page":"1317","DOI":"10.1242\/jcs.108.3.1317","article-title":"Cysteine-to-arginine point mutation in a 'hybrid' eight-cysteine domain of FBN1: consequences for fibrillin aggregation and microfibril assembly","volume":"108","author":"Kielty","year":"1995","journal-title":"J. Cell Sci."},{"issue":"12","key":"10.1016\/j.mbplus.2026.100205_bb0025","doi-asserted-by":"crossref","first-page":"3843","DOI":"10.1105\/tpc.107.055053","article-title":"Exploring the molecular etiology of dominant-negative mutations","volume":"19","author":"Veitia","year":"2007","journal-title":"Plant Cell"},{"issue":"1","key":"10.1016\/j.mbplus.2026.100205_bb0030","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1186\/s13023-020-01569-4","article-title":"Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement","volume":"15","author":"Stengl","year":"2020","journal-title":"Orphanet J. Rare Dis."},{"issue":"2","key":"10.1016\/j.mbplus.2026.100205_bb0035","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1161\/CIRCGENETICS.114.000950","article-title":"Beneficial outcome of losartan therapy depends on type of FBN1 mutation in Marfan syndrome","volume":"8","author":"Franken","year":"2015","journal-title":"Circ. Cardiovasc. Genet."},{"issue":"1","key":"10.1016\/j.mbplus.2026.100205_bb0040","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1007\/s00439-007-0371-x","article-title":"Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome","volume":"122","author":"M\u00e1ty\u00e1s","year":"2007","journal-title":"Hum. Genet."},{"issue":"3","key":"10.1016\/j.mbplus.2026.100205_bb0045","doi-asserted-by":"crossref","first-page":"1892","DOI":"10.3390\/ijms23031892","article-title":"The multiple functions of Fibrillin-1 microfibrils in organismal physiology","volume":"23","author":"Asano","year":"2022","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.mbplus.2026.100205_bb0050","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1016\/S0065-3233(05)70012-7","article-title":"Fibrillin microfibrils","volume":"70","author":"Kielty","year":"2005","journal-title":"Adv. Protein Chem."},{"issue":"3","key":"10.1016\/j.mbplus.2026.100205_bb0055","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/S0248-4900(98)80018-X","article-title":"Atomic force microscopy and modeling of natural elastic fibrillin polymers","volume":"90","author":"Hanssen","year":"1998","journal-title":"Biol. Cell."},{"issue":"6 Pt 1","key":"10.1016\/j.mbplus.2026.100205_bb0060","doi-asserted-by":"crossref","first-page":"2499","DOI":"10.1083\/jcb.103.6.2499","article-title":"Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils","volume":"103","author":"Sakai","year":"1986","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.mbplus.2026.100205_bb0065","doi-asserted-by":"crossref","DOI":"10.1016\/j.arr.2021.101255","article-title":"Elastic fibers during aging and disease","volume":"66","author":"Heinz","year":"2021","journal-title":"Ageing Res. Rev."},{"issue":"8","key":"10.1016\/j.mbplus.2026.100205_bb0070","doi-asserted-by":"crossref","first-page":"1403","DOI":"10.18240\/ijo.2024.08.03","article-title":"Knockdown of fibrillin-1 suppresses retina-blood barrier dysfunction by inhibiting vascular endothelial apoptosis under diabetic conditions","volume":"17","author":"Zhang","year":"2024","journal-title":"Int. J. Ophthalmol."},{"issue":"5","key":"10.1016\/j.mbplus.2026.100205_bb0075","doi-asserted-by":"crossref","first-page":"608","DOI":"10.1038\/s41594-023-00950-8","article-title":"Fibrillin microfibril structure identifies long-range effects of inherited pathogenic mutations affecting a key regulatory latent TGF\u03b2-binding site","volume":"30","author":"Godwin","year":"2023","journal-title":"Nat. Struct. Mol. Biol."},{"issue":"2","key":"10.1016\/j.mbplus.2026.100205_bb0080","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1016\/S0968-4328(99)00082-7","article-title":"Fibrillin-rich microfibrils of the extracellular matrix: ultrastructure and assembly","volume":"32","author":"Sherratt","year":"2001","journal-title":"Micron"},{"issue":"4","key":"10.1016\/j.mbplus.2026.100205_bb0085","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1111\/iep.12239","article-title":"Fell-Muir lecture: Fibrillin microfibrils: structural tensometers of elastic tissues?","volume":"98","author":"Kielty","year":"2017","journal-title":"Int. J. Exp. Pathol."},{"issue":"5","key":"10.1016\/j.mbplus.2026.100205_bb0090","doi-asserted-by":"crossref","first-page":"1045","DOI":"10.1083\/jcb.152.5.1045","article-title":"The supramolecular organization of fibrillin-rich microfibrils","volume":"152","author":"Baldock","year":"2001","journal-title":"J. Cell Biol."},{"issue":"1","key":"10.1016\/j.mbplus.2026.100205_bb0095","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/S0022-2836(03)00829-5","article-title":"Fibrillin microfibrils are stiff reinforcing fibres in compliant tissues","volume":"332","author":"Sherratt","year":"2003","journal-title":"J. Mol. Biol."},{"issue":"Pt 20","key":"10.1016\/j.mbplus.2026.100205_bb0100","doi-asserted-by":"crossref","first-page":"3819","DOI":"10.1242\/jeb.01765","article-title":"The modulus of elasticity of fibrillin-containing elastic fibres in the mesoglea of the hydromedusa Polyorchis penicillatus","volume":"208","author":"Megill","year":"2005","journal-title":"J. Exp. Biol."},{"key":"10.1016\/j.mbplus.2026.100205_bb0105","article-title":"The extracellular matrix glycoprotein fibrillin-1 in health and disease","volume":"11","author":"Li","year":"2023","journal-title":"Front. Cell Dev. Biol."},{"key":"10.1016\/j.mbplus.2026.100205_bb0110","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/j.semcdb.2018.07.016","article-title":"Fibrillin microfibrils and elastic fibre proteins: functional interactions and extracellular regulation of growth factors","volume":"89","author":"Thomson","year":"2019","journal-title":"Semin. Cell Dev. Biol."},{"issue":"1","key":"10.1016\/j.mbplus.2026.100205_bb0115","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1038\/s41392-024-01764-w","article-title":"TGF-\u03b2 signaling in health, disease, and therapeutics","volume":"9","author":"Deng","year":"2024","journal-title":"Signal Transduct. Target. Ther."},{"key":"10.1016\/j.mbplus.2026.100205_bb0120","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1186\/1471-2261-14-47","article-title":"Possible extracardiac predictors of aortic dissection in Marfan syndrome","volume":"14","author":"Agg","year":"2014","journal-title":"BMC Cardiovasc. Disord."},{"issue":"6","key":"10.1016\/j.mbplus.2026.100205_bb0125","doi-asserted-by":"crossref","first-page":"526","DOI":"10.1161\/CIRCULATIONAHA.108.841981","article-title":"Circulating transforming growth factor-beta in Marfan syndrome","volume":"120","author":"Matt","year":"2009","journal-title":"Circulation"},{"issue":"7","key":"10.1016\/j.mbplus.2026.100205_bb0130","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1136\/jmg.2009.072785","article-title":"The revised Ghent nosology for the Marfan syndrome","volume":"47","author":"Loeys","year":"2010","journal-title":"J. Med. Genet."},{"issue":"4","key":"10.1016\/j.mbplus.2026.100205_bb0135","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1007\/s00408-019-00236-1","article-title":"Lung function changes are more common in Marfan patients who need major thoracic surgery","volume":"197","author":"Kolonics-Farkas","year":"2019","journal-title":"Lung"},{"issue":"1","key":"10.1016\/j.mbplus.2026.100205_bb0140","first-page":"95","article-title":"Airway obstruction can be better predicted using global lung function initiative spirometry reference equations in Marfan syndrome","volume":"108","author":"Kolonics-Farkas","year":"2021","journal-title":"Physiol Int"},{"key":"10.1016\/j.mbplus.2026.100205_bb0145","doi-asserted-by":"crossref","DOI":"10.1016\/j.vph.2023.107215","article-title":"Insights into elastic fiber fragmentation: mechanisms and treatment of aortic aneurysm in Marfan syndrome","volume":"153","author":"Seeburun","year":"2023","journal-title":"Vasc. Pharmacol."},{"issue":"3","key":"10.1016\/j.mbplus.2026.100205_bb0150","doi-asserted-by":"crossref","first-page":"227","DOI":"10.5603\/CJ.2013.0066","article-title":"The role of transforming growth factor-beta in Marfan syndrome","volume":"20","author":"Benke","year":"2013","journal-title":"Cardiol. J."},{"issue":"18","key":"10.1016\/j.mbplus.2026.100205_bb0155","doi-asserted-by":"crossref","first-page":"2223","DOI":"10.1093\/eurheartj\/ehq258","article-title":"Cardiovascular manifestations in men and women carrying a FBN1 mutation","volume":"31","author":"D\u00e9taint","year":"2010","journal-title":"Eur. Heart J."},{"issue":"3","key":"10.1016\/j.mbplus.2026.100205_bb0160","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1086\/520125","article-title":"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","volume":"81","author":"Faivre","year":"2007","journal-title":"Am. J. Hum. Genet."},{"issue":"2","key":"10.1016\/j.mbplus.2026.100205_bb0165","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1086\/341581","article-title":"Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes","volume":"71","author":"Schrijver","year":"2002","journal-title":"Am. J. Hum. Genet."},{"issue":"6","key":"10.1016\/j.mbplus.2026.100205_bb0170","doi-asserted-by":"crossref","first-page":"633","DOI":"10.21037\/acs.2017.10.03","article-title":"Aortic dissection in patients with Marfan syndrome based on the IRAD data","volume":"6","author":"de Beaufort","year":"2017","journal-title":"Ann. Cardiothorac. Surg."},{"issue":"17","key":"10.1016\/j.mbplus.2026.100205_bb0175","doi-asserted-by":"crossref","first-page":"1846","DOI":"10.1161\/CIRCULATIONAHA.117.031264","article-title":"Insights from the international registry of acute aortic dissection: a 20-year experience of collaborative clinical research","volume":"137","author":"Evangelista","year":"2018","journal-title":"Circulation"},{"issue":"8","key":"10.1016\/j.mbplus.2026.100205_bb0180","doi-asserted-by":"crossref","first-page":"7561","DOI":"10.3390\/ijms24087561","article-title":"Nanoscale structural comparison of Fibrillin-1 microfibrils isolated from Marfan and non-Marfan syndrome human aorta","volume":"24","author":"\u0218ulea","year":"2023","journal-title":"Int. J. Mol. Sci."},{"issue":"4","key":"10.1016\/j.mbplus.2026.100205_bb0185","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1016\/S0092-8674(00)81259-3","article-title":"Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders","volume":"85","author":"Downing","year":"1996","journal-title":"Cell"},{"issue":"22","key":"10.1016\/j.mbplus.2026.100205_bb0190","doi-asserted-by":"crossref","first-page":"6659","DOI":"10.1093\/emboj\/16.22.6659","article-title":"Solution structure of the transforming growth factor beta-binding protein-like module, a domain associated with matrix fibrils","volume":"16","author":"Yuan","year":"1997","journal-title":"EMBO J."},{"issue":"14","key":"10.1016\/j.mbplus.2026.100205_bb0195","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1101\/gad.997502","article-title":"A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer","volume":"16","author":"Caputi","year":"2002","journal-title":"Genes Dev."},{"issue":"2","key":"10.1016\/j.mbplus.2026.100205_bb0200","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1016\/j.jsb.2006.03.021","article-title":"Tissue specific differences in fibrillin microfibrils analysed using single particle image analysis","volume":"155","author":"Lu","year":"2006","journal-title":"J. Struct. Biol."},{"issue":"1","key":"10.1016\/j.mbplus.2026.100205_bb0205","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1016\/j.jmb.2009.02.062","article-title":"Fibrillin microfibrils: a key role for the interbead region in elasticity","volume":"388","author":"Wang","year":"2009","journal-title":"J. Mol. Biol."},{"issue":"14","key":"10.1016\/j.mbplus.2026.100205_bb0210","doi-asserted-by":"crossref","first-page":"5117","DOI":"10.1074\/jbc.RA117.001483","article-title":"Structural and compositional diversity of fibrillin microfibrils in human tissues","volume":"293","author":"Eckersley","year":"2018","journal-title":"J. Biol. Chem."},{"issue":"1","key":"10.1016\/j.mbplus.2026.100205_bb0215","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1006\/jmbi.1996.0237","article-title":"Fibrillin-1: organization in microfibrils and structural properties","volume":"258","author":"Reinhardt","year":"1996","journal-title":"J. Mol. Biol."},{"issue":"14","key":"10.1016\/j.mbplus.2026.100205_bb0220","doi-asserted-by":"crossref","first-page":"5117","DOI":"10.1074\/jbc.RA117.001483","article-title":"Structural and compositional diversity of fibrillin microfibrils in human tissues","volume":"293","author":"Eckersley","year":"2018","journal-title":"J. Biol. Chem."},{"issue":"1","key":"10.1016\/j.mbplus.2026.100205_bb0225","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1002\/pmic.200401340","article-title":"Proteomic analysis of fibrillin-rich microfibrils","volume":"6","author":"Cain","year":"2006","journal-title":"Proteomics"},{"issue":"Pt 1","key":"10.1016\/j.mbplus.2026.100205_bb0230","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1042\/bj3400171","article-title":"Fibrillin degradation by matrix metalloproteinases: implications for connective tissue remodelling","volume":"340","author":"Ashworth","year":"1999","journal-title":"Biochem. J."},{"issue":"16","key":"10.1016\/j.mbplus.2026.100205_bb0235","doi-asserted-by":"crossref","first-page":"12339","DOI":"10.1074\/jbc.275.16.12339","article-title":"Mutations in calcium-binding epidermal growth factor modules render fibrillin-1 susceptible to proteolysis. A potential disease-causing mechanism in Marfan syndrome","volume":"275","author":"Reinhardt","year":"2000","journal-title":"J. Biol. Chem."},{"issue":"2","key":"10.1016\/j.mbplus.2026.100205_bb0240","doi-asserted-by":"crossref","first-page":"1231","DOI":"10.1074\/jbc.272.2.1231","article-title":"Calcium stabilizes fibrillin-1 against proteolytic degradation","volume":"272","author":"Reinhardt","year":"1997","journal-title":"J. Biol. Chem."},{"issue":"3","key":"10.1016\/j.mbplus.2026.100205_bb0245","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1056\/NEJM199007193230303","article-title":"Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome","volume":"323","author":"Hollister","year":"1990","journal-title":"N. Engl. J. Med."},{"issue":"1","key":"10.1016\/j.mbplus.2026.100205_bb0250","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1172\/JCI117298","article-title":"Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms","volume":"94","author":"Aoyama","year":"1994","journal-title":"J. Clin. Invest."},{"issue":"2","key":"10.1016\/j.mbplus.2026.100205_bb0255","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1006\/geno.1993.1349","article-title":"Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome","volume":"17","author":"Dietz","year":"1993","journal-title":"Genomics"},{"key":"10.1016\/j.mbplus.2026.100205_bb0260","doi-asserted-by":"crossref","first-page":"S34","DOI":"10.1002\/humu.1380110112","article-title":"Two novel fibrillin-1 mutations resulting in premature termination codons but in different mutant transcript levels and clinical phenotypes","volume":"1","author":"Karttunen","year":"1998","journal-title":"Hum. Mutat. Suppl"},{"key":"10.1016\/j.mbplus.2026.100205_bb0265","article-title":"Case report: biochemical and clinical phenotypes caused by cysteine substitutions in the epidermal growth factor-like domains of fibrillin-1","volume":"13","author":"Liu","year":"2022","journal-title":"Front. Genet."},{"issue":"16","key":"10.1016\/j.mbplus.2026.100205_bb0270","doi-asserted-by":"crossref","first-page":"12339","DOI":"10.1074\/jbc.275.16.12339","article-title":"Mutations in calcium-binding epidermal growth factor modules render fibrillin-1 susceptible to proteolysis. A potential disease-causing mechanism in Marfan syndrome","volume":"275","author":"Reinhardt","year":"2000","journal-title":"J. Biol. Chem."},{"issue":"6","key":"10.1016\/j.mbplus.2026.100205_bb0275","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGEN.117.002058","article-title":"Impact of pathogenic FBN1 variant types on the progression of aortic disease in patients with Marfan syndrome","volume":"11","author":"Takeda","year":"2018","journal-title":"Circ. Genom. Precis. Med."},{"issue":"Pt 8","key":"10.1016\/j.mbplus.2026.100205_bb0280","doi-asserted-by":"crossref","first-page":"1817","DOI":"10.1242\/jeb.199.8.1817","article-title":"Morphology and biomechanics of the microfibrillar network of sea cucumber dermis","volume":"199","author":"Thurmond","year":"1996","journal-title":"J. Exp. Biol."},{"issue":"1\u20132","key":"10.1016\/j.mbplus.2026.100205_bb0285","doi-asserted-by":"crossref","first-page":"121","DOI":"10.3109\/03008209809028905","article-title":"Mechanical role of elastin-associated microfibrils in pig aortic elastic tissue","volume":"37","author":"Lillie","year":"1998","journal-title":"Connect. Tissue Res."},{"issue":"4509","key":"10.1016\/j.mbplus.2026.100205_bb0290","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1126\/science.7256277","article-title":"Elastic arteries in invertebrates: mechanics of the octopus aorta","volume":"213","author":"Shadwick","year":"1981","journal-title":"Science"},{"issue":"Pt 21","key":"10.1016\/j.mbplus.2026.100205_bb0295","doi-asserted-by":"crossref","first-page":"3011","DOI":"10.1242\/jeb.202.21.3011","article-title":"The supramolecular organisation of fibrillin-rich microfibrils determines the mechanical properties of bovine zonular filaments","volume":"202","author":"Wright","year":"1999","journal-title":"J. Exp. Biol."},{"issue":"2","key":"10.1016\/j.mbplus.2026.100205_bb0300","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1172\/JCI200420641","article-title":"Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome","volume":"114","author":"Judge","year":"2004","journal-title":"J. Clin. Invest."},{"issue":"7","key":"10.1016\/j.mbplus.2026.100205_bb0305","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1042\/BJ20151108","article-title":"New insights into the structure, assembly and biological roles of 10-12 nm connective tissue microfibrils from fibrillin-1 studies","volume":"473","author":"Jensen","year":"2016","journal-title":"Biochem. J."},{"issue":"8","key":"10.1016\/j.mbplus.2026.100205_bb0310","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1093\/hmg\/ddm035","article-title":"Cellular and molecular studies of Marfan syndrome mutations identify co-operative protein folding in the cbEGF12-13 region of fibrillin-1","volume":"16","author":"Whiteman","year":"2007","journal-title":"Hum. Mol. Genet."},{"issue":"10","key":"10.1016\/j.mbplus.2026.100205_bb0315","doi-asserted-by":"crossref","first-page":"1743","DOI":"10.1016\/j.str.2013.08.004","article-title":"Structure of the fibrillin-1 N-terminal domains suggests that heparan sulfate regulates the early stages of microfibril assembly","volume":"21","author":"Yadin","year":"2013","journal-title":"Structure"},{"issue":"4","key":"10.1016\/j.mbplus.2026.100205_bb0320","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1016\/S0092-8674(00)81259-3","article-title":"Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders","volume":"85","author":"Downing","year":"1996","journal-title":"Cell"},{"issue":"22","key":"10.1016\/j.mbplus.2026.100205_bb0325","doi-asserted-by":"crossref","first-page":"14763","DOI":"10.1016\/S0021-9258(18)98752-1","article-title":"Purification and partial characterization of fibrillin, a cysteine-rich structural component of connective tissue microfibrils","volume":"266","author":"Sakai","year":"1991","journal-title":"J. Biol. Chem."},{"issue":"2","key":"10.1016\/j.mbplus.2026.100205_bb0330","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1016\/S0022-2836(02)00306-6","article-title":"The mechanical hierarchies of fibronectin observed with single-molecule AFM","volume":"319","author":"Oberhauser","year":"2002","journal-title":"J. Mol. Biol."},{"issue":"1","key":"10.1016\/j.mbplus.2026.100205_bb0335","doi-asserted-by":"crossref","first-page":"16844","DOI":"10.1038\/s41598-020-73969-2","article-title":"Steered molecular dynamic simulations reveal Marfan syndrome mutations disrupt fibrillin-1 cbEGF domain mechanosensitive calcium binding","volume":"10","author":"Haller","year":"2020","journal-title":"Sci. Rep."},{"issue":"2","key":"10.1016\/j.mbplus.2026.100205_bb0340","doi-asserted-by":"crossref","first-page":"H189","DOI":"10.1152\/ajpheart.00087.2018","article-title":"Elastin, arterial mechanics, and cardiovascular disease","volume":"315","author":"Cocciolone","year":"2018","journal-title":"Am. J. Physiol. Heart Circ. Physiol."},{"key":"10.1016\/j.mbplus.2026.100205_bb0345","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/j.matbio.2019.06.006","article-title":"The role of fibrillin and microfibril binding proteins in elastin and elastic fibre assembly","volume":"84","author":"Godwin","year":"2019","journal-title":"Matrix Biol."},{"issue":"1","key":"10.1016\/j.mbplus.2026.100205_bb0350","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1007\/s00441-009-0822-x","article-title":"Biogenesis and function of fibrillin assemblies","volume":"339","author":"Ramirez","year":"2010","journal-title":"Cell Tissue Res."},{"issue":"8","key":"10.1016\/j.mbplus.2026.100205_bb0355","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1556\/OH.2012.29295","article-title":"The establishment of the Marfan syndrome biobank in Hungary","volume":"153","author":"Agota","year":"2012","journal-title":"Orv. Hetil."},{"key":"10.1016\/j.mbplus.2026.100205_bb0360","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.rvsc.2020.09.006","article-title":"Investigation of fibrillin microfibrils in the canine cruciate ligament in dogs with different predispositions to ligament rupture","volume":"133","author":"Cox","year":"2020","journal-title":"Res. Vet. Sci."},{"issue":"Pt 4","key":"10.1016\/j.mbplus.2026.100205_bb0365","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1242\/jcs.99.4.797","article-title":"Isolation and ultrastructural analysis of microfibrillar structures from foetal bovine elastic tissues. Relative abundance and supramolecular architecture of type VI collagen assemblies and fibrillin","volume":"99","author":"Kielty","year":"1991","journal-title":"J. Cell Sci."},{"key":"10.1016\/j.mbplus.2026.100205_bb0370","doi-asserted-by":"crossref","first-page":"181","DOI":"10.2478\/s11534-011-0096-2","article-title":"Gwyddion: an open-source software for SPM data analysis","author":"Ne\u010das","year":"2012","journal-title":"Open Phys."}],"container-title":["Matrix Biology Plus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2590028526000165?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2590028526000165?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T20:22:40Z","timestamp":1788553360000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2590028526000165"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,12]]},"references-count":73,"alternative-id":["S2590028526000165"],"URL":"https:\/\/doi.org\/10.1016\/j.mbplus.2026.100205","relation":{},"ISSN":["2590-0285"],"issn-type":[{"value":"2590-0285","type":"print"}],"subject":[],"published":{"date-parts":[[2026,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genotype-associated structural and nanomechanical alterations of aortic fibrillin-1 microfibrils in Marfan syndrome","name":"articletitle","label":"Article Title"},{"value":"Matrix Biology Plus","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.mbplus.2026.100205","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 The Authors. Published by Elsevier B.V.","name":"copyright","label":"Copyright"}],"article-number":"100205"}}