{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T05:28:36Z","timestamp":1790573316218,"version":"4.1.0"},"reference-count":53,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,12,8]],"date-time":"2022-12-08T00:00:00Z","timestamp":1670457600000},"content-version":"am","delay-in-days":341,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100005010","name":"Italian Association for Cancer Research","doi-asserted-by":"publisher","award":["20075"],"award-info":[{"award-number":["20075"]}],"id":[{"id":"10.13039\/501100005010","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["R35HL135754"],"award-info":[{"award-number":["R35HL135754"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["K08HL148701"],"award-info":[{"award-number":["K08HL148701"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009578","name":"Mizutani Foundation for Glycoscience","doi-asserted-by":"publisher","award":["200039"],"award-info":[{"award-number":["200039"]}],"id":[{"id":"10.13039\/100009578","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003407","name":"Ministero dell\u2019Istruzione, dell\u2019Universit\u00e0 e della Ricerca","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003407","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006781","name":"Giovanni Armenise-Harvard Foundation","doi-asserted-by":"publisher","award":["CDA 2013"],"award-info":[{"award-number":["CDA 2013"]}],"id":[{"id":"10.13039\/100006781","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","translationalres.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Translational Research"],"published-print":{"date-parts":[[2022,1]]},"DOI":"10.1016\/j.trsl.2021.08.002","type":"journal-article","created":{"date-parts":[[2021,8,13]],"date-time":"2021-08-13T19:07:18Z","timestamp":1628881638000},"page":"1-17","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":23,"special_numbering":"C","title":["New mechanistic insights to PLOD1-mediated human vascular disease"],"prefix":"10.1016","volume":"239","author":[{"given":"Sara N","family":"Koenig","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omer","family":"Cavus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jordan","family":"Williams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Bernier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeff","family":"Tonniges","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holly","family":"Sucharski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Trevor","family":"Dew","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhannad","family":"Akel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Baker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Madiai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"De Giorgi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigi","family":"Scietti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Faravelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Forneris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter J","family":"Mohler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1479-2988","authenticated-orcid":false,"given":"Elisa A","family":"Bradley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.trsl.2021.08.002_bib0001","article-title":"National center for health statistics","year":"2019","journal-title":"Underlying Cause of Death, 1999-2017"},{"key":"10.1016\/j.trsl.2021.08.002_bib0002","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1016\/S0741-5214(97)70261-1","article-title":"Familial thoracic aortic dilatations and dissections: a case control study","volume":"25","author":"Biddinger","year":"1997","journal-title":"J Vasc Surg"},{"key":"10.1016\/j.trsl.2021.08.002_bib0003","doi-asserted-by":"crossref","first-page":"S3","DOI":"10.1016\/j.jtcvs.2014.07.070","article-title":"Use of genetics for personalized management of heritable thoracic aortic disease: how do we get there?","volume":"149","author":"Milewicz","year":"2015","journal-title":"J Thorac Cardiovasc Surg"},{"key":"10.1016\/j.trsl.2021.08.002_bib0004","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1016\/j.ccl.2010.01.017","article-title":"Genetic testing in aortic aneurysm disease: PRO","volume":"28","author":"Milewicz","year":"2010","journal-title":"Cardiol Clin"},{"key":"10.1016\/j.trsl.2021.08.002_bib0005","first-page":"89","article-title":"Smooth muscle cell to elastic lamina connections in developing mouse aorta. Role in aortic medial organization","volume":"68","author":"Davis","year":"1993","journal-title":"Lab Invest"},{"key":"10.1016\/j.trsl.2021.08.002_bib0006","doi-asserted-by":"crossref","first-page":"588","DOI":"10.1161\/CIRCRESAHA.118.312436","article-title":"Genetics of thoracic and abdominal aortic diseases","volume":"124","author":"Pinard","year":"2019","journal-title":"Circ Res"},{"key":"10.1016\/j.trsl.2021.08.002_bib0007","doi-asserted-by":"crossref","first-page":"582","DOI":"10.21037\/acs.2017.11.03","article-title":"Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome","volume":"6","author":"Meester","year":"2017","journal-title":"Ann Cardiothorac Surg"},{"key":"10.1016\/j.trsl.2021.08.002_bib0008","doi-asserted-by":"crossref","first-page":"1376","DOI":"10.1002\/jbmr.3692","article-title":"SiMPLOD, a structure-integrated database of collagen lysyl hydroxylase (LH\/PLOD) enzyme variants","volume":"34","author":"Scietti","year":"2019","journal-title":"J Bone Miner Res"},{"key":"10.1016\/j.trsl.2021.08.002_bib0009","doi-asserted-by":"crossref","first-page":"18568","DOI":"10.1074\/jbc.M201389200","article-title":"Identification of amino acids important for the catalytic activity of the collagen glucosyltransferase associated with the multifunctional lysyl hydroxylase 3 (LH3)","volume":"277","author":"Wang","year":"2002","journal-title":"J Biol Chem"},{"key":"10.1016\/j.trsl.2021.08.002_bib0010","doi-asserted-by":"crossref","first-page":"548","DOI":"10.33314\/jnhrc.v17i4.1042","article-title":"The declaration of helsinki on medical research involving human subjects: a review of seventh revision","volume":"17","author":"Shrestha","year":"2020","journal-title":"J Nepal Health Res Counc"},{"key":"10.1016\/j.trsl.2021.08.002_bib0011","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1038\/gim.2013.73","article-title":"American College of Medical G and Genomics. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing","volume":"15","author":"Green","year":"2013","journal-title":"Genet Med"},{"key":"10.1016\/j.trsl.2021.08.002_bib0012","doi-asserted-by":"crossref","first-page":"1523","DOI":"10.1038\/s41467-019-09234-6","article-title":"Metascape provides a biologist-oriented resource for the analysis of systems-level datasets","volume":"10","author":"Zhou","year":"2019","journal-title":"Nat Commun"},{"key":"10.1016\/j.trsl.2021.08.002_bib0013","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1038\/nmeth.3484","article-title":"Phenolyzer: phenotype-based prioritization of candidate genes for human diseases","volume":"12","author":"Yang","year":"2015","journal-title":"Nat Methods"},{"key":"10.1016\/j.trsl.2021.08.002_bib0014","doi-asserted-by":"crossref","first-page":"H2077","DOI":"10.1152\/ajpheart.00685.2015","article-title":"The Frank-Starling mechanism involves deceleration of cross-bridge kinetics and is preserved in failing human right ventricular myocardium","volume":"309","author":"Milani-Nejad","year":"2015","journal-title":"Am J Physiol Heart Circ Physiol"},{"key":"10.1016\/j.trsl.2021.08.002_bib0015","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.ejphar.2018.10.009","article-title":"Sibutramine facilitates apoptosis and contraction of aortic smooth muscle cells through elevating production of reactive oxygen species","volume":"841","author":"Morikawa","year":"2018","journal-title":"Eur J Pharmacol"},{"key":"10.1016\/j.trsl.2021.08.002_bib0016","doi-asserted-by":"crossref","first-page":"3163","DOI":"10.1038\/s41467-018-05631-5","article-title":"Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3","volume":"9","author":"Scietti","year":"2018","journal-title":"Nat Commun"},{"key":"10.1016\/j.trsl.2021.08.002_bib0017","doi-asserted-by":"crossref","first-page":"2197","DOI":"10.1016\/j.jmb.2019.04.009","article-title":"Can predicted protein 3D structures provide reliable insights into whether missense variants are disease associated?","volume":"431","author":"Ittisoponpisan","year":"2019","journal-title":"J Mol Biol"},{"key":"10.1016\/j.trsl.2021.08.002_bib0018","doi-asserted-by":"crossref","first-page":"W350","DOI":"10.1093\/nar\/gky300","article-title":"DynaMut: predicting the impact of mutations on protein conformation, flexibility and stability","volume":"46","author":"Rodrigues","year":"2018","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.trsl.2021.08.002_bib0019","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1186\/s12859-015-0548-6","article-title":"MAESTRO\u2013multi agent stability prediction upon point mutations","volume":"16","author":"Laimer","year":"2015","journal-title":"BMC Bioinformatics"},{"key":"10.1016\/j.trsl.2021.08.002_bib0020","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1186\/1471-2105-12-151","article-title":"PoPMuSiC 2.1: a web server for the estimation of protein stability changes upon mutation and sequence optimality","volume":"12","author":"Dehouck","year":"2011","journal-title":"BMC Bioinformatics"},{"key":"10.1016\/j.trsl.2021.08.002_bib0021","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1093\/bioinformatics\/btt691","article-title":"mCSM: predicting the effects of mutations in proteins using graph-based signatures","volume":"30","author":"Pires","year":"2014","journal-title":"Bioinformatics"},{"key":"10.1016\/j.trsl.2021.08.002_bib0022","doi-asserted-by":"crossref","first-page":"1125","DOI":"10.1002\/prot.20810","article-title":"Prediction of protein stability changes for single-site mutations using support vector machines","volume":"62","author":"Cheng","year":"2006","journal-title":"Proteins"},{"key":"10.1016\/j.trsl.2021.08.002_bib0023","doi-asserted-by":"crossref","first-page":"W314","DOI":"10.1093\/nar\/gku411","article-title":"DUET: a server for predicting effects of mutations on protein stability using an integrated computational approach","volume":"42","author":"Pires","year":"2014","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.trsl.2021.08.002_bib0024","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1093\/nar\/gki375","article-title":"I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure","volume":"33","author":"Capriotti","year":"2005","journal-title":"Nucleic Acids Res"},{"issue":"8","key":"10.1016\/j.trsl.2021.08.002_bib0025","doi-asserted-by":"crossref","first-page":"e3998","DOI":"10.21769\/BioProtoc.3998","article-title":"Optimized recombinant production of secreted proteins using human embryonic kidney (hek293) cells grown in suspension","volume":"11","author":"Faravelli","year":"2021","journal-title":"Bio-protocol"},{"key":"10.1016\/j.trsl.2021.08.002_bib0026","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1111\/cge.12358","article-title":"The revised ghent nosology; reclassifying isolated ectopia lentis","volume":"87","author":"Chandra","year":"2015","journal-title":"Clin Genet"},{"key":"10.1016\/j.trsl.2021.08.002_bib0027","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1590\/S0102-76382011000100019","article-title":"Cystic medial necrosis: pathological findings and clinical implications","volume":"26","author":"Yuan","year":"2011","journal-title":"Rev Bras Cir Cardiovasc"},{"key":"10.1016\/j.trsl.2021.08.002_bib0028","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1016\/j.mex.2015.02.007","article-title":"Determination of collagen content within picrosirius red stained paraffin-embedded tissue sections using fluorescence microscopy","volume":"2","author":"Vogel","year":"2015","journal-title":"MethodsX"},{"key":"10.1016\/j.trsl.2021.08.002_bib0029","doi-asserted-by":"crossref","first-page":"4459","DOI":"10.1096\/fj.201700653R","article-title":"Inhibition of enzymes involved in collagen cross-linking reduces vascular smooth muscle cell calcification","volume":"32","author":"Jover","year":"2018","journal-title":"FASEB J"},{"key":"10.1016\/j.trsl.2021.08.002_bib0030","doi-asserted-by":"crossref","first-page":"1034","DOI":"10.1101\/gr.3715005","article-title":"Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes","volume":"15","author":"Siepel","year":"2005","journal-title":"Genome Res"},{"key":"10.1016\/j.trsl.2021.08.002_bib0031","doi-asserted-by":"crossref","first-page":"2745","DOI":"10.1093\/bioinformatics\/btv195","article-title":"PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels","volume":"31","author":"Choi","year":"2015","journal-title":"Bioinformatics"},{"key":"10.1016\/j.trsl.2021.08.002_bib0032","doi-asserted-by":"crossref","first-page":"e46688","DOI":"10.1371\/journal.pone.0046688","article-title":"Predicting the functional effect of amino acid substitutions and indels","volume":"7","author":"Choi","year":"2012","journal-title":"PLoS One"},{"key":"10.1016\/j.trsl.2021.08.002_bib0033","doi-asserted-by":"crossref","first-page":"1553","DOI":"10.1101\/gr.092619.109","article-title":"Identification of deleterious mutations within three human genomes","volume":"19","author":"Chun","year":"2009","journal-title":"Genome Res"},{"key":"10.1016\/j.trsl.2021.08.002_bib0034","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1101\/gr.3577405","article-title":"Distribution and intensity of constraint in mammalian genomic sequence","volume":"15","author":"Cooper","year":"2005","journal-title":"Genome Res"},{"key":"10.1016\/j.trsl.2021.08.002_bib0035","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/nmeth.2890","article-title":"MutationTaster2: mutation prediction for the deep-sequencing age","volume":"11","author":"Schwarz","year":"2014","journal-title":"Nat Methods"},{"key":"10.1016\/j.trsl.2021.08.002_bib0036","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1093\/bib\/bbq072","article-title":"PHAST and RPHAST: phylogenetic analysis with space\/time models","volume":"12","author":"Hubisz","year":"2011","journal-title":"Brief Bioinform"},{"key":"10.1016\/j.trsl.2021.08.002_bib0037","doi-asserted-by":"crossref","first-page":"W449","DOI":"10.1093\/nar\/gkw329","article-title":"PEP-FOLD3: faster de novo structure prediction for linear peptides in solution and in complex","volume":"44","author":"Lamiable","year":"2016","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.trsl.2021.08.002_bib0038","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1042\/BST20200767","article-title":"Collagen hydroxylysine glycosylation: non-conventional substrates for atypical glycosyltransferase enzymes","volume":"49","author":"De Giorgi","year":"2021","journal-title":"Biochem Soc Trans"},{"key":"10.1016\/j.trsl.2021.08.002_bib0039","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1111\/cas.14700","article-title":"Differential glycosylation of collagen modulates lung cancer stem cell subsets through beta1 integrin-mediated interactions","volume":"112","author":"Gardelli","year":"2021","journal-title":"Cancer Sci"},{"key":"10.1016\/j.trsl.2021.08.002_bib0040","series-title":"GeneReviews((R))","article-title":"PLOD1-related kyphoscoliotic ehlers-danlos syndrome","author":"HN","year":"1993"},{"key":"10.1016\/j.trsl.2021.08.002_bib0041","first-page":"229","article-title":"The Ehlers-Danlos syndromes","volume":"12","author":"Yeowell","year":"1993","journal-title":"Semin Dermatol"},{"key":"10.1016\/j.trsl.2021.08.002_bib0042","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1016\/S0022-3476(89)80839-X","article-title":"Ehlers-Danlos syndrome type VI: clinical manifestations of collagen lysyl hydroxylase deficiency","volume":"115","author":"Wenstrup","year":"1989","journal-title":"J Pediatr"},{"key":"10.1016\/j.trsl.2021.08.002_bib0043","doi-asserted-by":"crossref","first-page":"562","DOI":"10.1038\/gim.2017.138","article-title":"Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review","volume":"20","author":"D'Hondt","year":"2018","journal-title":"Genet Med"},{"key":"10.1016\/j.trsl.2021.08.002_bib0044","doi-asserted-by":"crossref","DOI":"10.1136\/bcr-2018-224423","article-title":"Arterial fragility in kyphoscoliotic Ehlers-Danlos syndrome","author":"Henneton","year":"2018","journal-title":"BMJ Case Rep"},{"key":"10.1016\/j.trsl.2021.08.002_bib0045","doi-asserted-by":"crossref","DOI":"10.1161\/JAHA.112.000034","article-title":"Impaired collagen biosynthesis and cross-linking in aorta of patients with bicuspid aortic valve","volume":"2","author":"Wagsater","year":"2013","journal-title":"J Am Heart Assoc"},{"key":"10.1016\/j.trsl.2021.08.002_bib0046","doi-asserted-by":"crossref","first-page":"2479","DOI":"10.1016\/j.bbamcr.2013.04.008","article-title":"A molecular ensemble in the rER for procollagen maturation","volume":"1833","author":"Ishikawa","year":"2013","journal-title":"Biochim Biophys Acta"},{"key":"10.1016\/j.trsl.2021.08.002_bib0047","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1016\/S1096-7192(02)00036-7","article-title":"The kyphoscoliotic type of Ehlers-Danlos syndrome (type VI): differential effects on the hydroxylation of lysine in collagens I and II revealed by analysis of cross-linked telopeptides from urine","volume":"76","author":"Eyre","year":"2002","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.trsl.2021.08.002_bib0048","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1136\/jmedgenet-2019-106019","article-title":"Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications","volume":"56","author":"Ewans","year":"2019","journal-title":"J Med Genet"},{"key":"10.1016\/j.trsl.2021.08.002_bib0049","doi-asserted-by":"crossref","first-page":"e10454","DOI":"10.1002\/jbm4.10454","article-title":"Abnormal bone collagen cross-linking in osteogenesis imperfecta\/bruck syndrome caused by compound heterozygous PLOD2 mutations","volume":"5","author":"Gistelinck","year":"2021","journal-title":"JBMR Plus"},{"key":"10.1016\/j.trsl.2021.08.002_bib0050","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1016\/j.ajhg.2008.09.004","article-title":"A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene","volume":"83","author":"Salo","year":"2008","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.trsl.2021.08.002_bib0051","first-page":"356","article-title":"A subcellular map of the human proteome","author":"Thul","year":"2017","journal-title":"Science"},{"key":"10.1016\/j.trsl.2021.08.002_bib0052","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1152\/physrev.00041.2003","article-title":"Molecular regulation of vascular smooth muscle cell differentiation in development and disease","volume":"84","author":"Owens","year":"2004","journal-title":"Physiol Rev"},{"key":"10.1016\/j.trsl.2021.08.002_bib0053","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1093\/cvr\/cvq230","article-title":"TGFBR2 mutations alter smooth muscle cell phenotype and predispose to thoracic aortic aneurysms and dissections","volume":"88","author":"Inamoto","year":"2010","journal-title":"Cardiovasc Res"}],"container-title":["Translational Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1931524421001924?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1931524421001924?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T08:14:09Z","timestamp":1778832849000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1931524421001924"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1]]},"references-count":53,"alternative-id":["S1931524421001924"],"URL":"https:\/\/doi.org\/10.1016\/j.trsl.2021.08.002","relation":{},"ISSN":["1931-5244"],"issn-type":[{"value":"1931-5244","type":"print"}],"subject":[],"published":{"date-parts":[[2022,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"New mechanistic insights to PLOD1-mediated human vascular disease","name":"articletitle","label":"Article Title"},{"value":"Translational Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.trsl.2021.08.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}