{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Van Gucht I"],"funding":["British Heart Foundation","European Research Council","Universiteit Antwerpen","Fonds Wetenschappelijk Onderzoek","National Institute for Health Research (NIHR)","Dutch Heart Foundation","European 398 Reference Network on rare multisystemic vascular disorders"],"pagination":["7111"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8269155"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["22(13)"],"pubmed_abstract":["Thoracic aortic aneurysm and dissection (TAAD) is a major cause of cardiovascular morbidity and mortality. Loss-of-function variants in <i>LOX</i>, encoding the extracellular matrix crosslinking enzyme lysyl oxidase, have been reported to cause familial TAAD. Using a next-generation TAAD gene panel, we identified five additional probands carrying <i>LOX</i> variants, including two missense variants affecting highly conserved amino acids in the <i>LOX</i> catalytic domain and three truncating variants. Connective tissue manifestations are apparent in a substantial fraction of the variant carriers. Some <i>LOX</i> variant carriers presented with TAAD early in life, while others had normal aortic diameters at an advanced age. Finally, we identified the first patient with spontaneous coronary "],"journal":["International journal of molecular sciences"],"pubmed_title":["Novel <i>LOX</i> Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings."],"pmcid":["PMC8269155"],"funding_grant_id":["PG/13/96/30608","1S81820N","2013T093","FFB190208","G042321N","NF-SI-0611-10170","771945","ERC-COG-2017-771945)","G044720N","12X8520N","769036","1S70419N","G040221N,"],"pubmed_authors":["Adlam D","Macek M","Loeys BL","Krebsova A","Verstraeten A","Diness BR","Perik M","Votypka P","Samani NJ","Van Laer L","Meester J","Laga S","Peeters N","Van Den Heuvel L","Van Gucht I","Kempers M","Webb TR","Luyckx I","Baranowska AA"],"additional_accession":[]},"is_claimable":false,"name":"Novel <i>LOX</i> Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings.","description":"Thoracic aortic aneurysm and dissection (TAAD) is a major cause of cardiovascular morbidity and mortality. Loss-of-function variants in <i>LOX</i>, encoding the extracellular matrix crosslinking enzyme lysyl oxidase, have been reported to cause familial TAAD. Using a next-generation TAAD gene panel, we identified five additional probands carrying <i>LOX</i> variants, including two missense variants affecting highly conserved amino acids in the <i>LOX</i> catalytic domain and three truncating variants. Connective tissue manifestations are apparent in a substantial fraction of the variant carriers. Some <i>LOX</i> variant carriers presented with TAAD early in life, while others had normal aortic diameters at an advanced age. Finally, we identified the first patient with spontaneous coronary ","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Jul","modification":"2026-04-08T07:23:04.742Z","creation":"2026-04-07T23:40:52.6Z"},"accession":"S-EPMC8269155","cross_references":{"pubmed":["34281165"],"doi":["10.3390/ijms22137111"]}}