{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T12:35:39Z","timestamp":1793190939462,"version":"4.5.0"},"reference-count":75,"publisher":"Elsevier BV","issue":"12","license":[{"start":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T00:00:00Z","timestamp":1669852800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T00:00:00Z","timestamp":1669852800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,6,2]],"date-time":"2023-06-02T00:00:00Z","timestamp":1685664000000},"content-version":"vor","delay-in-days":183,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100004385","name":"Universiteit Gent","doi-asserted-by":"publisher","award":["G035620N"],"award-info":[{"award-number":["G035620N"]}],"id":[{"id":"10.13039\/501100004385","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004385","name":"Universiteit Gent","doi-asserted-by":"publisher","award":["01N04516C"],"award-info":[{"award-number":["01N04516C"]}],"id":[{"id":"10.13039\/501100004385","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004385","name":"Universiteit Gent","doi-asserted-by":"publisher","award":["BOF21\/GOA\/019"],"award-info":[{"award-number":["BOF21\/GOA\/019"]}],"id":[{"id":"10.13039\/501100004385","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["384170921"],"award-info":[{"award-number":["384170921"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["397484323"],"award-info":[{"award-number":["397484323"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["73111208"],"award-info":[{"award-number":["73111208"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["FOR2722\/D1"],"award-info":[{"award-number":["FOR2722\/D1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["SFB 829\/B12"],"award-info":[{"award-number":["SFB 829\/B12"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["FOR2722\/C2"],"award-info":[{"award-number":["FOR2722\/C2"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["FOR2722\/B1"],"award-info":[{"award-number":["FOR2722\/B1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["TRR 259\/B09"],"award-info":[{"award-number":["TRR 259\/B09"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100021201","name":"European Academy of Dermatology and Venereology","doi-asserted-by":"publisher","award":["PPRC-2018-50"],"award-info":[{"award-number":["PPRC-2018-50"]}],"id":[{"id":"10.13039\/501100021201","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003130","name":"Research Foundation Flanders","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003130","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008375","name":"Universit\u00e4t Basel","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008375","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2022,12]]},"DOI":"10.1016\/j.ajhg.2022.10.010","type":"journal-article","created":{"date-parts":[[2022,11,8]],"date-time":"2022-11-08T11:01:36Z","timestamp":1667905296000},"page":"2230-2252","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":28,"title":["EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis"],"prefix":"10.1016","volume":"109","author":[{"given":"Christin S.","family":"Adamo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aude","family":"Beyens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alvise","family":"Schiavinato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglas R.","family":"Keene","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara F.","family":"Tufa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"M\u00f6rgelin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00fcrgen","family":"Brinckmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takako","family":"Sasaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anja","family":"Niehoff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maren","family":"Dreiner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lore","family":"Pottie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Mui\u00f1o-Mosquera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elif Yilmaz","family":"Gulec","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alper","family":"Gezdirici","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Braghetta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Bonaldo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raimund","family":"Wagener","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mats","family":"Paulsson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Bornaun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riet","family":"De Rycke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michiel","family":"De Bruyne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Femke","family":"Baeke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Walter P.","family":"Devine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Balram","family":"Gangaram","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allison","family":"Tam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meena","family":"Balasubramanian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sian","family":"Ellard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Moore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sofie","family":"Symoens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stacey","family":"Cole","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Schwarze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn W.","family":"Holmes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan J.","family":"Hayflick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wojciech","family":"Wiszniewski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheela","family":"Nampoothiri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine C.","family":"Davis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynn Y.","family":"Sakai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3932-1242","authenticated-orcid":false,"given":"Gerhard","family":"Sengle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bert","family":"Callewaert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2022.10.010_bib1","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1002\/iub.2213","article-title":"Unique molecular networks: Formation and role of elastin cross-links","volume":"72","author":"Schmelzer","year":"2020","journal-title":"IUBMB Life"},{"key":"10.1016\/j.ajhg.2022.10.010_bib2","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1083\/jcb.121.1.201","article-title":"Emilin, a component of elastic fibers preferentially located at the elastin-microfibrils interface","volume":"121","author":"Bressan","year":"1993","journal-title":"J.\u00a0Cell Biol."},{"key":"10.1016\/j.ajhg.2022.10.010_bib3","doi-asserted-by":"crossref","first-page":"1150","DOI":"10.1016\/j.jid.2016.02.021","article-title":"Targeting of EMILIN-1 and EMILIN-2 to Fibrillin Microfibrils Facilitates their Incorporation into the Extracellular Matrix","volume":"136","author":"Schiavinato","year":"2016","journal-title":"J.\u00a0Invest. Dermatol."},{"key":"10.1016\/j.ajhg.2022.10.010_bib4","first-page":"93","article-title":"The EMILIN\/Multimerin family","volume":"2","author":"Colombatti","year":"2011","journal-title":"Front. Immunol."},{"key":"10.1016\/j.ajhg.2022.10.010_bib5","doi-asserted-by":"crossref","first-page":"5526","DOI":"10.1038\/s41598-017-05835-7","article-title":"Fibulin-4 deposition requires EMILIN-1 in the extracellular matrix of osteoblasts","volume":"7","author":"Schiavinato","year":"2017","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ajhg.2022.10.010_bib6","doi-asserted-by":"crossref","first-page":"638","DOI":"10.1128\/MCB.24.2.638-650.2004","article-title":"EMILIN-1 deficiency induces elastogenesis and vascular cell defects","volume":"24","author":"Zanetti","year":"2004","journal-title":"Mol. Cell Biol."},{"key":"10.1016\/j.ajhg.2022.10.010_bib7","doi-asserted-by":"crossref","first-page":"8935","DOI":"10.1074\/jbc.M608204200","article-title":"Fibrillin-1 interactions with fibulins depend on the first hybrid domain and provide an adaptor function to tropoelastin","volume":"282","author":"El-Hallous","year":"2007","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2022.10.010_bib8","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1016\/j.cell.2005.12.035","article-title":"Emilin1 links TGF-beta maturation to blood pressure homeostasis","volume":"124","author":"Zacchigna","year":"2006","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2022.10.010_bib9","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1002\/humu.21462","article-title":"New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations","volume":"32","author":"Callewaert","year":"2011","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2022.10.010_bib10","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1136\/jmg.2005.034157","article-title":"Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene","volume":"43","author":"Szabo","year":"2006","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ajhg.2022.10.010_bib11","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1093\/hmg\/7.6.1021","article-title":"An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa","volume":"7","author":"Tassabehji","year":"1998","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2022.10.010_bib12","doi-asserted-by":"crossref","first-page":"1193","DOI":"10.1111\/j.0022-202X.2005.23758.x","article-title":"Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin","volume":"124","author":"Urban","year":"2005","journal-title":"J.\u00a0Invest. Dermatol."},{"key":"10.1016\/j.ajhg.2022.10.010_bib13","doi-asserted-by":"crossref","first-page":"1075","DOI":"10.1086\/504304","article-title":"Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome","volume":"78","author":"Hucthagowder","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2022.10.010_bib14","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1038\/ejhg.2010.45","article-title":"Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency","volume":"18","author":"Renard","year":"2010","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2022.10.010_bib15","doi-asserted-by":"crossref","first-page":"1700","DOI":"10.1128\/MCB.26.5.1700-1709.2006","article-title":"Targeted disruption of fibulin-4 abolishes elastogenesis and causes perinatal lethality in mice","volume":"26","author":"McLaughlin","year":"2006","journal-title":"Mol. Cell Biol."},{"key":"10.1016\/j.ajhg.2022.10.010_bib16","doi-asserted-by":"crossref","first-page":"19029","DOI":"10.1073\/pnas.0908268106","article-title":"Fibulin-4 conducts proper elastogenesis via interaction with cross-linking enzyme lysyl oxidase","volume":"106","author":"Horiguchi","year":"2009","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2022.10.010_bib17","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1042\/EBC20180050","article-title":"Lysyl oxidases: from enzyme activity to extracellular matrix cross-links","volume":"63","author":"Vallet","year":"2019","journal-title":"Essays Biochem."},{"key":"10.1016\/j.ajhg.2022.10.010_bib18","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1002\/humu.22920","article-title":"Diagnostic exome sequencing identifies a novel gene, EMILIN1, associated with autosomal-dominant hereditary connective tissue disease","volume":"37","author":"Capuano","year":"2016","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2022.10.010_bib19","doi-asserted-by":"crossref","first-page":"104757","DOI":"10.1016\/j.nbd.2020.104757","article-title":"Distal motor neuropathy associated with novel EMILIN1 mutation","volume":"137","author":"Iacomino","year":"2020","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.ajhg.2022.10.010_bib20","doi-asserted-by":"crossref","first-page":"13874","DOI":"10.1074\/jbc.M707820200","article-title":"Targeting of bone morphogenetic protein growth factor complexes to fibrillin","volume":"283","author":"Sengle","year":"2008","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2022.10.010_bib21","doi-asserted-by":"crossref","first-page":"11805","DOI":"10.1074\/jbc.M611029200","article-title":"A comparative analysis of the fibulin protein family. Biochemical characterization, binding interactions, and tissue localization","volume":"282","author":"Kobayashi","year":"2007","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2022.10.010_bib22","doi-asserted-by":"crossref","first-page":"1159","DOI":"10.1161\/CIRCRESAHA.113.301498","article-title":"Thoracic aortic aneurysm frequency and dissection are associated with fibrillin-1 fragment concentrations in circulation","volume":"113","author":"Marshall","year":"2013","journal-title":"Circ. Res."},{"key":"10.1016\/j.ajhg.2022.10.010_bib23","doi-asserted-by":"crossref","first-page":"2750","DOI":"10.1074\/jbc.M209256200","article-title":"Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein","volume":"278","author":"Isogai","year":"2003","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2022.10.010_bib24","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1074\/jbc.M115.681775","article-title":"Characterization of microfibrillar-associated Protein 4 (MFAP4) as a Tropoelastin- and Fibrillin-binding protein involved in elastic fiber formation","volume":"291","author":"Pilecki","year":"2016","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2022.10.010_bib25","doi-asserted-by":"crossref","first-page":"2386","DOI":"10.1016\/j.ajhg.2021.11.009","article-title":"Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome","volume":"108","author":"Pottie","year":"2021","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2022.10.010_bib26","doi-asserted-by":"crossref","first-page":"e93031","DOI":"10.1371\/journal.pone.0093031","article-title":"An extended DeltaCT-method facilitating normalisation with multiple reference genes suited for quantitative RT-PCR analyses of human hepatocyte-like cells","volume":"9","author":"Riedel","year":"2014","journal-title":"PLoS One"},{"key":"10.1016\/j.ajhg.2022.10.010_bib27","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/0076-6879(94)45004-8","article-title":"Fibrillin: monomers and microfibrils","volume":"245","author":"Sakai","year":"1994","journal-title":"Methods Enzymol."},{"key":"10.1016\/j.ajhg.2022.10.010_bib28","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1159\/000232587","article-title":"Collagen VI is a subepithelial adhesive target for human respiratory tract pathogens","volume":"2","author":"Bober","year":"2010","journal-title":"J.\u00a0Innate Immun."},{"key":"10.1016\/j.ajhg.2022.10.010_bib29","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1038\/nmeth.2019","article-title":"Fiji: an open-source platform for biological-image analysis","volume":"9","author":"Schindelin","year":"2012","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ajhg.2022.10.010_bib30","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1007\/978-1-59745-413-1_6","article-title":"Quantitative determination of collagen cross-links","volume":"522","author":"Avery","year":"2009","journal-title":"Methods Mol. Biol."},{"key":"10.1016\/j.ajhg.2022.10.010_bib31","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1111\/cge.13969","article-title":"Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families","volume":"100","author":"McKenzie","year":"2021","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ajhg.2022.10.010_bib32","first-page":"3562","article-title":"miR-322 stabilizes MEK1 expression to inhibit RAF\/MEK\/ERK pathway activation in cartilage","volume":"144","author":"Bluhm","year":"2017","journal-title":"Development"},{"key":"10.1016\/j.ajhg.2022.10.010_bib33","doi-asserted-by":"crossref","first-page":"1853","DOI":"10.1083\/jcb.201809056","article-title":"Respiratory chain inactivation links cartilage-mediated growth retardation to mitochondrial diseases","volume":"218","author":"Holzer","year":"2019","journal-title":"J.\u00a0Cell Biol."},{"key":"10.1016\/j.ajhg.2022.10.010_bib34","doi-asserted-by":"crossref","first-page":"6431","DOI":"10.1074\/jbc.M111.283119","article-title":"Dwarfism in mice lacking collagen-binding integrins alpha2beta1 and alpha11beta1 is caused by severely diminished IGF-1 levels","volume":"287","author":"Blumbach","year":"2012","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2022.10.010_bib35","doi-asserted-by":"crossref","first-page":"e0174798","DOI":"10.1371\/journal.pone.0174798","article-title":"NMD Classifier: A reliable and systematic classification tool for nonsense-mediated decay events","volume":"12","author":"Hsu","year":"2017","journal-title":"PLoS One"},{"key":"10.1016\/j.ajhg.2022.10.010_bib36","doi-asserted-by":"crossref","first-page":"eabc1404","DOI":"10.1126\/sciadv.abc1404","article-title":"A matricellular protein fibulin-4 is essential for the activation of lysyl oxidase","volume":"6","author":"Noda","year":"2020","journal-title":"Sci. Adv."},{"key":"10.1016\/j.ajhg.2022.10.010_bib37","first-page":"706","article-title":"COMP-assisted collagen secretion--a novel intracellular function required for fibrosis","volume":"129","author":"Schulz","year":"2016","journal-title":"J.\u00a0Cell Sci."},{"key":"10.1016\/j.ajhg.2022.10.010_bib38","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1111\/cge.13865","article-title":"Cutis laxa: A comprehensive overview of clinical characteristics and pathophysiology","volume":"99","author":"Beyens","year":"2021","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ajhg.2022.10.010_bib39","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1089\/ars.2019.7843","article-title":"Arterial tortuosity syndrome: an ascorbate compartmentalization disorder?","volume":"34","author":"Boel","year":"2021","journal-title":"Antioxidants Redox Signal."},{"key":"10.1016\/j.ajhg.2022.10.010_bib40","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1038\/ng1764","article-title":"Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome","volume":"38","author":"Coucke","year":"2006","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2022.10.010_bib41","doi-asserted-by":"crossref","first-page":"1236","DOI":"10.1038\/gim.2017.253","article-title":"Arterial tortuosity syndrome: 40 new families and literature review","volume":"20","author":"Beyens","year":"2018","journal-title":"Genet. Med."},{"key":"10.1016\/j.ajhg.2022.10.010_bib42","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.\u00a0Med. Genet."},{"key":"10.1016\/j.ajhg.2022.10.010_bib43","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1016\/j.berh.2007.12.005","article-title":"Ehlers-danlos syndromes and marfan syndrome","volume":"22","author":"Callewaert","year":"2008","journal-title":"Best Pract. Res. Clin. Rheumatol."},{"key":"10.1016\/j.ajhg.2022.10.010_bib44","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1038\/s41436-019-0609-8","article-title":"A clinical scoring system for congenital contractural arachnodactyly","volume":"22","author":"Meerschaut","year":"2020","journal-title":"Genet. Med."},{"key":"10.1016\/j.ajhg.2022.10.010_bib45","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1046\/j.1365-2362.2001.00841.x","article-title":"Relationship between bone mass density and tensile strength of the skin in women","volume":"31","author":"Pi\u00e9rard","year":"2001","journal-title":"Eur. J. Clin. Invest."},{"key":"10.1016\/j.ajhg.2022.10.010_bib46","doi-asserted-by":"crossref","first-page":"1296","DOI":"10.1074\/mcp.M000014-MCP201","article-title":"Comprehensive profiling of cartilage extracellular matrix formation and maturation using sequential extraction and label-free quantitative proteomics","volume":"9","author":"Wilson","year":"2010","journal-title":"Mol. Cell. Proteomics"},{"key":"10.1016\/j.ajhg.2022.10.010_bib47","doi-asserted-by":"crossref","DOI":"10.1074\/mcp.M111.014159","article-title":"Changes in the chondrocyte and extracellular matrix proteome during post-natal mouse cartilage development","volume":"11","author":"Wilson","year":"2012","journal-title":"Mol. Cell. Proteomics"},{"key":"10.1016\/j.ajhg.2022.10.010_bib48","first-page":"25","article-title":"Trabecular bone structure and strength - remodelling and repair","volume":"1","author":"Mosekilde","year":"2000","journal-title":"J.\u00a0Musculoskelet. Neuronal Interact."},{"key":"10.1016\/j.ajhg.2022.10.010_bib49","doi-asserted-by":"crossref","DOI":"10.1115\/1.4029176","article-title":"Biomechanics and mechanobiology of trabecular bone: a review","volume":"137","author":"Oftadeh","year":"2015","journal-title":"J.\u00a0Biomech. Eng."},{"key":"10.1016\/j.ajhg.2022.10.010_bib50","doi-asserted-by":"crossref","first-page":"5943","DOI":"10.1128\/MCB.19.9.5943","article-title":"SMG-2 is a phosphorylated protein required for mRNA surveillance in Caenorhabditis elegans and related to Upf1p of yeast","volume":"19","author":"Page","year":"1999","journal-title":"Mol. Cell Biol."},{"key":"10.1016\/j.ajhg.2022.10.010_bib51","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1007\/s004390000285","article-title":"Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay","volume":"106","author":"Urb\u00e1n","year":"2000","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ajhg.2022.10.010_bib52","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1016\/j.jbiotec.2012.06.038","article-title":"Differences in the glycosylation of recombinant proteins expressed in HEK and CHO cells","volume":"161","author":"Croset","year":"2012","journal-title":"J.\u00a0Biotechnol."},{"key":"10.1016\/j.ajhg.2022.10.010_bib53","doi-asserted-by":"crossref","first-page":"21443","DOI":"10.1074\/jbc.M115.640425","article-title":"Fibulin-4 E57K knock-in mice recapitulate cutaneous, vascular and skeletal defects of recessive cutis laxa 1B with both elastic fiber and collagen fibril abnormalities","volume":"290","author":"Igoucheva","year":"2015","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2022.10.010_bib54","doi-asserted-by":"crossref","first-page":"5867","DOI":"10.1093\/hmg\/ddv308","article-title":"Loss of fibulin-4 disrupts collagen synthesis and maturation: implications for pathology resulting from EFEMP2 mutations","volume":"24","author":"Papke","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2022.10.010_bib55","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.matbio.2015.12.002","article-title":"Loss of fibulin-4 results in abnormal collagen fibril assembly in bone, caused by impaired lysyl oxidase processing and collagen cross-linking","volume":"50","author":"Sasaki","year":"2016","journal-title":"Matrix Biol."},{"key":"10.1016\/j.ajhg.2022.10.010_bib56","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1016\/j.matbio.2016.01.001","article-title":"Enzymatic and non-enzymatic functions of the lysyl oxidase family in bone","volume":"52-54","author":"Trackman","year":"2016","journal-title":"Matrix Biol."},{"key":"10.1016\/j.ajhg.2022.10.010_bib57","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1042\/bj1390277","article-title":"Effect of pH on thermal stability of collagen in the dispersed and aggregated states","volume":"139","author":"Russell","year":"1974","journal-title":"Biochem. J."},{"key":"10.1016\/j.ajhg.2022.10.010_bib58","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1016\/S0002-9440(10)61183-2","article-title":"Lysyl oxidase is essential for normal development and function of the respiratory system and for the integrity of elastic and collagen fibers in various tissues","volume":"167","author":"M\u00e4ki","year":"2005","journal-title":"Am. J. Pathol."},{"key":"10.1016\/j.ajhg.2022.10.010_bib59","doi-asserted-by":"crossref","first-page":"16440","DOI":"10.1074\/jbc.M115.641670","article-title":"Lysyl oxidase activity is required for ordered collagen fibrillogenesis by tendon cells","volume":"290","author":"Herchenhan","year":"2015","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2022.10.010_bib60","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1084\/jem.110.5.771","article-title":"Alterations in state of molecular aggregation of collagen induced in chick embryos by beta-aminopropionitrile (lathyrus factor)","volume":"110","author":"Levene","year":"1959","journal-title":"J.\u00a0Exp. Med."},{"key":"10.1016\/j.ajhg.2022.10.010_bib61","doi-asserted-by":"crossref","first-page":"987","DOI":"10.1242\/dmm.015255","article-title":"TGF-beta mediates early angiogenesis and latent fibrosis in an Emilin1-deficient mouse\u00a0model of aortic valve disease","volume":"7","author":"Munjal","year":"2014","journal-title":"Dis. Model. Mech."},{"key":"10.1016\/j.ajhg.2022.10.010_bib62","doi-asserted-by":"crossref","first-page":"6160","DOI":"10.1074\/jbc.M208322200","article-title":"beta 1 Integrin-dependent cell adhesion to EMILIN-1 is mediated by the gC1q domain","volume":"278","author":"Spessotto","year":"2003","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2022.10.010_bib63","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1083\/jcb.201008013","article-title":"EMILIN1-alpha4\/alpha9 integrin interaction inhibits dermal fibroblast and keratinocyte proliferation","volume":"195","author":"Danussi","year":"2011","journal-title":"J.\u00a0Cell Biol."},{"key":"10.1016\/j.ajhg.2022.10.010_bib64","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1016\/j.biocel.2004.01.004","article-title":"The thrombospondins","volume":"36","author":"Adams","year":"2004","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"10.1016\/j.ajhg.2022.10.010_bib65","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1161\/01.ATV.21.1.47","article-title":"Cartilage oligomeric matrix protein (thrombospondin-5) is expressed by human vascular smooth muscle cells","volume":"21","author":"Riessen","year":"2001","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"key":"10.1016\/j.ajhg.2022.10.010_bib66","doi-asserted-by":"crossref","first-page":"24591","DOI":"10.1074\/jbc.M611390200","article-title":"Interaction of cartilage oligomeric matrix protein\/thrombospondin 5 with aggrecan","volume":"282","author":"Chen","year":"2007","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2022.10.010_bib67","doi-asserted-by":"crossref","first-page":"e83120","DOI":"10.1371\/journal.pone.0083120","article-title":"Cartilage oligomeric matrix protein in idiopathic pulmonary fibrosis","volume":"8","author":"Vuga","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.ajhg.2022.10.010_bib68","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1016\/j.matbio.2013.02.010","article-title":"Enhanced deposition of cartilage oligomeric matrix protein is a common feature in fibrotic skin pathologies","volume":"32","author":"Agarwal","year":"2013","journal-title":"Matrix Biol."},{"key":"10.1016\/j.ajhg.2022.10.010_bib69","doi-asserted-by":"crossref","first-page":"16695","DOI":"10.1038\/s41598-021-95805-x","article-title":"Cartilage oligomeric matrix protein as a marker of progressive liver fibrosis in biliary atresia","volume":"11","author":"Udomsinprasert","year":"2021","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ajhg.2022.10.010_bib70","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1016\/j.jid.2016.02.802","article-title":"Cartilage oligomeric matrix protein increases in photodamaged skin","volume":"136","author":"Kobayashi","year":"2016","journal-title":"J.\u00a0Invest. Dermatol."},{"key":"10.1016\/j.ajhg.2022.10.010_bib71","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1080\/03008207.2019.1593391","article-title":"TSP1 and TSP2 deficiencies affect LOX protein distribution in the femoral diaphysis and pro-peptide removal in marrow-derived mesenchymal stem cells in\u00a0vitro","volume":"60","author":"Shearer","year":"2019","journal-title":"Connect. Tissue Res."},{"key":"10.1016\/j.ajhg.2022.10.010_bib72","doi-asserted-by":"crossref","first-page":"eaar2566","DOI":"10.1126\/scisignal.aar2566","article-title":"Thrombospondin-1 promotes matrix homeostasis by interacting with collagen and lysyl oxidase precursors and collagen cross-linking sites","volume":"11","author":"Rosini","year":"2018","journal-title":"Sci. Signal."},{"key":"10.1016\/j.ajhg.2022.10.010_bib73","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1016\/j.matbio.2003.10.005","article-title":"Overlapping, complementary and site-specific expression pattern of genes of the EMILIN\/Multimerin family","volume":"22","author":"Braghetta","year":"2004","journal-title":"Matrix Biol."},{"key":"10.1016\/j.ajhg.2022.10.010_bib74","doi-asserted-by":"crossref","first-page":"2178","DOI":"10.1161\/ATVBAHA.112.254664","article-title":"Vascular smooth muscle Emilin-1 is a regulator of arteriolar myogenic response and blood pressure","volume":"32","author":"Litteri","year":"2012","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"key":"10.1016\/j.ajhg.2022.10.010_bib75","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1161\/CIRCRESAHA.115.307130","article-title":"LOX mutations predispose to thoracic aortic aneurysms and dissections","volume":"118","author":"Guo","year":"2016","journal-title":"Circ. Res."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000292972200458X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000292972200458X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T01:34:54Z","timestamp":1778636094000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S000292972200458X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12]]},"references-count":75,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2022,12]]}},"alternative-id":["S000292972200458X"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2022.10.010","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2022,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2022.10.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 American Society of Human Genetics.","name":"copyright","label":"Copyright"}]}}