{"id":"https://openalex.org/W4283330968","doi":"https://doi.org/10.1016/j.athplu.2022.06.001","title":"Novel protein-truncating variant in the APOB gene may protect from coronary artery disease and adverse cardiovascular events","display_name":"Novel protein-truncating variant in the APOB gene may protect from coronary artery disease and adverse cardiovascular events","publication_year":2022,"publication_date":"2022-06-23","ids":{"openalex":"https://openalex.org/W4283330968","doi":"https://doi.org/10.1016/j.athplu.2022.06.001","pmid":"https://pubmed.ncbi.nlm.nih.gov/36644201","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/9833228"},"language":"en","primary_location":{"id":"doi:10.1016/j.athplu.2022.06.001","doi":"https://doi.org/10.1016/j.athplu.2022.06.001","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.athplu.2022.06.001","pdf_url":"https://www.sciencedirect.com/science/article/pii/S2667089522000189/pdf","source":{"id":"https://openalex.org/S4210236682","display_name":"Atherosclerosis Plus","issn_l":"2667-0895","issn":["2667-0895","2667-0909"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","ki-jl-1","norway-1","oarl","poland-20"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Atherosclerosis Plus","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.sciencedirect.com/science/article/pii/S2667089522000189/pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5049709176","display_name":"Gabriele Mango","orcid":"https://orcid.org/0000-0003-0352-9367","observed_orcids":["https://orcid.org/0000-0003-0352-9367"]},"institutions":[{"id":"https://openalex.org/I119439378","display_name":"University of Verona","ror":"https://ror.org/039bp8j42","country_code":"IT","type":"education","lineage":["https://openalex.org/I119439378"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Gabriele Mango","raw_affiliation_strings":["Department of Medicine, Unit of Internal Medicine, University of Verona, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, Unit of Internal Medicine, University of Verona, Italy","institution_ids":["https://openalex.org/I119439378"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069045081","display_name":"Nicola Osti","orcid":"https://orcid.org/0009-0005-4623-7649","observed_orcids":["https://orcid.org/0009-0005-4623-7649"]},"institutions":[{"id":"https://openalex.org/I119439378","display_name":"University of Verona","ror":"https://ror.org/039bp8j42","country_code":"IT","type":"education","lineage":["https://openalex.org/I119439378"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Nicola Osti","raw_affiliation_strings":["Department of Medicine, Unit of Internal Medicine, University of Verona, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, Unit of Internal Medicine, University of Verona, Italy","institution_ids":["https://openalex.org/I119439378"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011596408","display_name":"Silvia Udali","orcid":"https://orcid.org/0000-0003-1259-497X","observed_orcids":["https://orcid.org/0000-0003-1259-497X"]},"institutions":[{"id":"https://openalex.org/I119439378","display_name":"University of Verona","ror":"https://ror.org/039bp8j42","country_code":"IT","type":"education","lineage":["https://openalex.org/I119439378"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Silvia Udali","raw_affiliation_strings":["Department of Medicine, Unit of Internal Medicine, University of Verona, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, Unit of Internal Medicine, University of Verona, Italy","institution_ids":["https://openalex.org/I119439378"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006787665","display_name":"Anna Vareschi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I119439378","display_name":"University of Verona","ror":"https://ror.org/039bp8j42","country_code":"IT","type":"education","lineage":["https://openalex.org/I119439378"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Anna Vareschi","raw_affiliation_strings":["Department of Medicine, Unit of Internal Medicine, University of Verona, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, Unit of Internal Medicine, University of Verona, Italy","institution_ids":["https://openalex.org/I119439378"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037463942","display_name":"Giovanni Malerba","orcid":"https://orcid.org/0000-0001-8705-8560","observed_orcids":["https://orcid.org/0000-0001-8705-8560"]},"institutions":[{"id":"https://openalex.org/I119439378","display_name":"University of Verona","ror":"https://ror.org/039bp8j42","country_code":"IT","type":"education","lineage":["https://openalex.org/I119439378"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Giovanni Malerba","raw_affiliation_strings":["Laboratory of Computational Genomics, Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, 37134, Verona, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Computational Genomics, Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, 37134, Verona, Italy","institution_ids":["https://openalex.org/I119439378"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101510898","display_name":"Alejandro Giorgetti","orcid":"https://orcid.org/0000-0001-8738-6150","observed_orcids":["https://orcid.org/0000-0001-8738-6150"]},"institutions":[{"id":"https://openalex.org/I119439378","display_name":"University of Verona","ror":"https://ror.org/039bp8j42","country_code":"IT","type":"education","lineage":["https://openalex.org/I119439378"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Alejandro Giorgetti","raw_affiliation_strings":["Department of Biotechnology, University of Verona, Verona, 37134, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biotechnology, University of Verona, Verona, 37134, Italy","institution_ids":["https://openalex.org/I119439378"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073467576","display_name":"Francesca Pizzolo","orcid":"https://orcid.org/0000-0003-4419-3994","observed_orcids":["https://orcid.org/0000-0003-4419-3994"]},"institutions":[{"id":"https://openalex.org/I119439378","display_name":"University of Verona","ror":"https://ror.org/039bp8j42","country_code":"IT","type":"education","lineage":["https://openalex.org/I119439378"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Francesca Pizzolo","raw_affiliation_strings":["Department of Medicine, Unit of Internal Medicine, University of Verona, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, Unit of Internal Medicine, University of Verona, Italy","institution_ids":["https://openalex.org/I119439378"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063650307","display_name":"Simonetta Friso","orcid":"https://orcid.org/0000-0002-9606-6711","observed_orcids":["https://orcid.org/0000-0002-9606-6711"]},"institutions":[{"id":"https://openalex.org/I119439378","display_name":"University of Verona","ror":"https://ror.org/039bp8j42","country_code":"IT","type":"education","lineage":["https://openalex.org/I119439378"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Simonetta Friso","raw_affiliation_strings":["Department of Medicine, Unit of Internal Medicine, University of Verona, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, Unit of Internal Medicine, University of Verona, Italy","institution_ids":["https://openalex.org/I119439378"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023996952","display_name":"Domenico Girelli","orcid":"https://orcid.org/0000-0001-9684-1899","observed_orcids":["https://orcid.org/0000-0001-9684-1899"]},"institutions":[{"id":"https://openalex.org/I119439378","display_name":"University of Verona","ror":"https://ror.org/039bp8j42","country_code":"IT","type":"education","lineage":["https://openalex.org/I119439378"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Domenico Girelli","raw_affiliation_strings":["Department of Medicine, Unit of Internal Medicine, University of Verona, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, Unit of Internal Medicine, University of Verona, Italy","institution_ids":["https://openalex.org/I119439378"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041970756","display_name":"Oliviero Olivieri","orcid":"https://orcid.org/0000-0001-8209-9056","observed_orcids":["https://orcid.org/0000-0001-8209-9056"]},"institutions":[{"id":"https://openalex.org/I119439378","display_name":"University of Verona","ror":"https://ror.org/039bp8j42","country_code":"IT","type":"education","lineage":["https://openalex.org/I119439378"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Oliviero Olivieri","raw_affiliation_strings":["Department of Medicine, Unit of Internal Medicine, University of Verona, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, Unit of Internal Medicine, University of Verona, Italy","institution_ids":["https://openalex.org/I119439378"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041306142","display_name":"Annalisa Castagna","orcid":"https://orcid.org/0000-0001-8505-3176","observed_orcids":["https://orcid.org/0000-0001-8505-3176"]},"institutions":[{"id":"https://openalex.org/I119439378","display_name":"University of Verona","ror":"https://ror.org/039bp8j42","country_code":"IT","type":"education","lineage":["https://openalex.org/I119439378"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Annalisa Castagna","raw_affiliation_strings":["Department of Medicine, Unit of Internal Medicine, University of Verona, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, Unit of Internal Medicine, University of Verona, Italy","institution_ids":["https://openalex.org/I119439378"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5038797557","display_name":"Nicola Martinelli","orcid":"https://orcid.org/0000-0001-6465-5119","observed_orcids":["https://orcid.org/0000-0001-6465-5119"]},"institutions":[{"id":"https://openalex.org/I119439378","display_name":"University of Verona","ror":"https://ror.org/039bp8j42","country_code":"IT","type":"education","lineage":["https://openalex.org/I119439378"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"Nicola Martinelli","raw_affiliation_strings":["Department of Medicine, Unit of Internal Medicine, University of Verona, Italy"],"raw_orcid":"https://orcid.org/0000-0001-6465-5119","affiliations":[{"raw_affiliation_string":"Department of Medicine, Unit of Internal Medicine, University of Verona, Italy","institution_ids":["https://openalex.org/I119439378"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5038797557"],"corresponding_institution_ids":["https://openalex.org/I119439378"],"apc_list":{"value":2050,"currency":"USD","value_usd":2050},"apc_paid":{"value":2050,"currency":"USD","value_usd":2050},"fwci":0.1755,"has_fulltext":true,"cited_by_count":3,"citation_normalized_percentile":{"value":0.47545175,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"49","issue":null,"first_page":"42","last_page":"46"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10394","display_name":"Lipoproteins and Cardiovascular Health","score":0.9961000084877014,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10394","display_name":"Lipoproteins and Cardiovascular Health","score":0.9961000084877014,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T13430","display_name":"Lipid metabolism and disorders","score":0.0012000000569969416,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.0008999999845400453,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/apob-gene","display_name":"APOB gene","score":0.8199999928474426},{"id":"https://openalex.org/keywords/truncating-variants","display_name":"truncating mutations","score":0.8999999761581421},{"id":"https://openalex.org/keywords/coronary-artery-disease","display_name":"coronary artery disease","score":0.7760000228881836},{"id":"https://openalex.org/keywords/familial-hypercholesterolemia","display_name":"familial hypercholesterolemia","score":0.968999981880188},{"id":"https://openalex.org/keywords/ldlr-variants","display_name":"LDLR variants","score":0.6959999799728394},{"id":"https://openalex.org/keywords/ldl-cholesterol","display_name":"LDL cholesterol","score":0.5789999961853027},{"id":"https://openalex.org/keywords/very-low-ldl-cholesterol","display_name":"very low LDL cholesterol","score":0.5929999947547913},{"id":"https://openalex.org/keywords/apob-48","display_name":"apoB-48","score":0.824999988079071},{"id":"https://openalex.org/keywords/vldl-secretion","display_name":"VLDL secretion","score":0.9559999704360962},{"id":"https://openalex.org/keywords/major-adverse-cardiovascular-events","display_name":"major adverse cardiovascular events","score":0.6899999976158142},{"id":"https://openalex.org/keywords/genetic-testing","display_name":"genetic testing","score":0.5440000295639038},{"id":"https://openalex.org/keywords/targeted-next-generation-sequencing","display_name":"targeted next-generation sequencing","score":0.6629999876022339},{"id":"https://openalex.org/keywords/rare-variants","display_name":"rare variants","score":0.4830000102519989}],"concepts":[{"id":"https://openalex.org/C62746215","wikidata":"https://www.wikidata.org/wiki/Q14890615","display_name":"Apolipoprotein B","level":3,"score":0.8807764053344727},{"id":"https://openalex.org/C2779120738","wikidata":"https://www.wikidata.org/wiki/Q2711291","display_name":"Familial hypercholesterolemia","level":3,"score":0.6438324451446533},{"id":"https://openalex.org/C43554185","wikidata":"https://www.wikidata.org/wiki/Q425649","display_name":"LDL receptor","level":4,"score":0.604629397392273},{"id":"https://openalex.org/C11772777","wikidata":"https://www.wikidata.org/wiki/Q423126","display_name":"Chylomicron","level":5,"score":0.5876991152763367},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.5796846151351929},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5522890686988831},{"id":"https://openalex.org/C2778096610","wikidata":"https://www.wikidata.org/wiki/Q1476525","display_name":"Dyslipidemia","level":3,"score":0.5325918197631836},{"id":"https://openalex.org/C20580545","wikidata":"https://www.wikidata.org/wiki/Q28354","display_name":"Stop codon","level":3,"score":0.4957974851131439},{"id":"https://openalex.org/C2780948078","wikidata":"https://www.wikidata.org/wiki/Q21130010","display_name":"PCSK9","level":5,"score":0.4524296224117279},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.4156549572944641},{"id":"https://openalex.org/C2780072125","wikidata":"https://www.wikidata.org/wiki/Q28350","display_name":"Lipoprotein","level":3,"score":0.39824122190475464},{"id":"https://openalex.org/C2778163477","wikidata":"https://www.wikidata.org/wiki/Q43656","display_name":"Cholesterol","level":2,"score":0.38154086470603943},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.36157456040382385},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.33369553089141846},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.32834500074386597},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.21186918020248413},{"id":"https://openalex.org/C8243546","wikidata":"https://www.wikidata.org/wiki/Q419074","display_name":"Very low-density lipoprotein","level":4,"score":0.1848665177822113}],"mesh":[],"locations_count":5,"locations":[{"id":"doi:10.1016/j.athplu.2022.06.001","doi":"https://doi.org/10.1016/j.athplu.2022.06.001","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.athplu.2022.06.001","pdf_url":"https://www.sciencedirect.com/science/article/pii/S2667089522000189/pdf","source":{"id":"https://openalex.org/S4210236682","display_name":"Atherosclerosis Plus","issn_l":"2667-0895","issn":["2667-0895","2667-0909"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","ki-jl-1","norway-1","oarl","poland-20"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Atherosclerosis Plus","raw_type":"journal-article"},{"id":"doi:10.2139/ssrn.4061448","doi":"https://doi.org/10.2139/ssrn.4061448","is_oa":true,"landing_page_url":"https://doi.org/10.2139/ssrn.4061448","pdf_url":null,"source":{"id":"https://openalex.org/S4210172589","display_name":"SSRN Electronic Journal","issn_l":"1556-5068","issn":["1556-5068"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1318003438","host_organization_name":"RELX Group (Netherlands)","host_organization_lineage":["https://openalex.org/I1318003438"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":null,"raw_type":"posted-content"},{"id":"pmh:oai:pubmedcentral.nih.gov:9833228","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/9833228","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Atheroscler Plus","raw_type":"Text"},{"id":"pmid:36644201","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/36644201","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Atherosclerosis plus","raw_type":"Journal Article"},{"id":"pmh:oai:doaj.org/article:1dc939bde54d463eb67694b264f9cbf7","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/1dc939bde54d463eb67694b264f9cbf7","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Atherosclerosis Plus, Vol 49, Iss , Pp 42-46 (2022)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1016/j.athplu.2022.06.001","doi":"https://doi.org/10.1016/j.athplu.2022.06.001","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.athplu.2022.06.001","pdf_url":"https://www.sciencedirect.com/science/article/pii/S2667089522000189/pdf","source":{"id":"https://openalex.org/S4210236682","display_name":"Atherosclerosis Plus","issn_l":"2667-0895","issn":["2667-0895","2667-0909"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","ki-jl-1","norway-1","oarl","poland-20"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Atherosclerosis Plus","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":1.0,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320324084","display_name":"Fondazione Cassa di Risparmio di Verona Vicenza Belluno e Ancona","ror":"https://ror.org/04wkyys07"},{"id":"https://openalex.org/F4320324120","display_name":"Universit\u00e0 degli Studi di Verona","ror":"https://ror.org/039bp8j42"},{"id":"https://openalex.org/F4320325582","display_name":"Karl-Franzens-Universit\u00e4t Graz","ror":"https://ror.org/01faaaf77"},{"id":"https://openalex.org/F4320326239","display_name":"Medizinische Universit\u00e4t Graz","ror":"https://ror.org/02n0bts35"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4283330968.pdf","grobid_xml":"https://content.openalex.org/works/W4283330968.grobid-xml"},"referenced_works_count":49,"referenced_works":["https://openalex.org/W1524184984","https://openalex.org/W1541084827","https://openalex.org/W1544456416","https://openalex.org/W1859156177","https://openalex.org/W1965416784","https://openalex.org/W2012079242","https://openalex.org/W2019757445","https://openalex.org/W2020949762","https://openalex.org/W2021043456","https://openalex.org/W2023069842","https://openalex.org/W2031265447","https://openalex.org/W2040612932","https://openalex.org/W2061645854","https://openalex.org/W2061971339","https://openalex.org/W2075026967","https://openalex.org/W2092882480","https://openalex.org/W2097536581","https://openalex.org/W2115470275","https://openalex.org/W2116015900","https://openalex.org/W2120297447","https://openalex.org/W2121366725","https://openalex.org/W2122865563","https://openalex.org/W2124924684","https://openalex.org/W2130626257","https://openalex.org/W2135905398","https://openalex.org/W2140622082","https://openalex.org/W2141446322","https://openalex.org/W2157815953","https://openalex.org/W2159054534","https://openalex.org/W2163488353","https://openalex.org/W2171864287","https://openalex.org/W2182053180","https://openalex.org/W2301230890","https://openalex.org/W2410774145","https://openalex.org/W2460791123","https://openalex.org/W2523320370","https://openalex.org/W2548661231","https://openalex.org/W2556697253","https://openalex.org/W2580792129","https://openalex.org/W2604768034","https://openalex.org/W2760771213","https://openalex.org/W2887629426","https://openalex.org/W2894660847","https://openalex.org/W2946343948","https://openalex.org/W2996185966","https://openalex.org/W3132162962","https://openalex.org/W3139070968","https://openalex.org/W3183475563","https://openalex.org/W6677231274"],"related_works":["https://openalex.org/W4226054561","https://openalex.org/W2946343948","https://openalex.org/W4408532171","https://openalex.org/W4389958528","https://openalex.org/W3028233253","https://openalex.org/W2014109581","https://openalex.org/W2615960845","https://openalex.org/W2918480330","https://openalex.org/W7124724395","https://openalex.org/W7134221974"],"abstract_inverted_index":{"Background":[0],"and":[1,65,119,125,127,139,184,214],"aims:":[2],"Genetic":[3],"testing":[4],"is":[5,19],"still":[6],"rarely":[7],"used":[8],"for":[9,206],"the":[10,21,94,174,201,231],"diagnosis":[11],"of":[12,26,35,41,51,60,191,233],"dyslipidemia,":[13,207],"even":[14],"though":[15],"Familial":[16],"Hypercholesterolemia":[17],"(FH)":[18],"considered":[20],"most":[22],"common":[23],"genetic":[24,241],"cause":[25],"coronary":[27,210],"artery":[28],"disease":[29],"(CAD).":[30],"To":[31],"perform":[32],"a":[33,49,130,157,166,195,224],"pilot-analysis":[34],"targeted":[36,234],"Next":[37],"Generation":[38],"Sequencing":[39],"(NGS)":[40],"FH":[42],"related":[43],"genes":[44,67],"in":[45,70,113,129,161,236],"patients":[46],"selected":[47],"within":[48],"cohort":[50],"subjects":[52,72,99,144,151],"with":[53,96,152,169],"or":[54,83],"without":[55],"angiographically-demonstrated":[56],"CAD.":[57,149],"Methods:":[58],"NGS":[59,235],"LDLR,":[61],"APOB,":[62],"PCSK9,":[63],"HMGCR,":[64],"APOE":[66],"was":[68],"performed":[69],"24":[71],"not":[73,216],"taking":[74],"lipid-lowering":[75],"drugs,":[76],"presenting":[77],"very":[78,84,196],"high":[79],"(\u2265190":[80],"mg/dL,":[81,87],"n=18)":[82],"low":[85,153],"(\u226460":[86],"n=6)":[88],"LDL-cholesterol":[89,154],"plasma":[90],"levels.":[91,187],"Results:":[92],"Within":[93],"group":[95],"hypercholesterolemia,":[97],"6":[98],"(33.3%)":[100],"had":[101,148,208],"7":[102],"rare":[103,159],"variants":[104,111,147,242],"predicted":[105],"to":[106],"be":[107],"potentially":[108],"pathogenic.":[109],"Five":[110],"were":[112,141],"LDLR":[114,146],"gene:":[115],"2":[116,122],"nonsense,":[117],"c.274C>T(rs774467219)":[118],"c.126C>A":[120],"(rs751317621),":[121],"missense,":[123],"c.662A>G(rs373822756)":[124],"c.1735G>T(rs875989929),":[126],"1":[128],"splice":[131],"region,":[132],"c.2312-3C>A(rs875989942).":[133],"Two":[134],"APOB":[135,162,192,240],"missense":[136],"variants,":[137],"c.5741A>G(rs1801699)":[138],"c.3337G>C(rs12713844)":[140],"found.":[142],"All":[143],"carrying":[145],"Among":[150],"we":[155],"found":[156],"novel":[158],"mutation":[160],"gene,":[163],"c.6943G>T,":[164,193],"determining":[165],"truncating":[167],"variant":[168],"premature":[170],"stop":[171],"codon":[172],"after":[173],"ApoB-48,":[175],"thus":[176],"allowing":[177],"chylomicron":[178],"synthesis":[179],"but":[180],"reducing":[181,243],"VLDL":[182],"secretion":[183],"then":[185],"LDL":[186],"The":[188],"heterozygous":[189],"carrier":[190],"despite":[194],"high-risk":[197],"profile":[198],"encompassing":[199],"all":[200],"traditional":[202],"risk":[203],"factors":[204],"except":[205],"normal":[209],"arteries":[211],"by":[212],"angiography":[213],"did":[215],"report":[217],"any":[218],"major":[219],"adverse":[220],"cardiovascular":[221,248],"event":[222],"during":[223],"20-years":[225],"follow-up.":[226],"Conclusions:":[227],"Our":[228],"data":[229],"support":[230],"use":[232],"well-characterized":[237],"clinical":[238],"settings.":[239],"ApoB":[244],"production":[245],"may":[246],"improve":[247],"outcomes.":[249]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2023,"cited_by_count":1}],"updated_date":"2026-11-08T12:12:28.789561","created_date":"2022-06-24T00:00:00"}
