{"id":"https://openalex.org/W2150044334","doi":"https://doi.org/10.1016/j.carpath.2011.09.004","title":"Single gene disorders of the aortic wall","display_name":"Single gene disorders of the aortic wall","publication_year":2011,"publication_date":"2011-10-29","ids":{"openalex":"https://openalex.org/W2150044334","doi":"https://doi.org/10.1016/j.carpath.2011.09.004","mag":"2150044334","pmid":"https://pubmed.ncbi.nlm.nih.gov/22036072"},"language":"en","primary_location":{"id":"doi:10.1016/j.carpath.2011.09.004","doi":"https://doi.org/10.1016/j.carpath.2011.09.004","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.carpath.2011.09.004","pdf_url":null,"source":{"id":"https://openalex.org/S176609843","display_name":"Cardiovascular Pathology","issn_l":"1054-8807","issn":["1054-8807","1879-1336"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-1"],"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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cardiovascular Pathology","raw_type":"journal-article"},"volume":null,"type":"review","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5010903919","display_name":"Marc K. Halushka","orcid":"https://orcid.org/0000-0002-7112-7389","observed_orcids":["https://orcid.org/0000-0002-7112-7389"]},"institutions":[{"id":"https://openalex.org/I145311948","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95","country_code":"US","type":"education","lineage":["https://openalex.org/I145311948"]},{"id":"https://openalex.org/I2799853436","display_name":"Johns Hopkins Medicine","ror":"https://ror.org/037zgn354","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799853436"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Marc K. Halushka","raw_affiliation_strings":["Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. mhalush1@jhmi.edu"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. mhalush1@jhmi.edu","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I2799853436"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5010903919"],"corresponding_institution_ids":["https://openalex.org/I145311948","https://openalex.org/I2799853436"],"apc_list":{"value":4210,"currency":"USD","value_usd":4210},"apc_paid":null,"fwci":0.4083,"has_fulltext":false,"cited_by_count":31,"citation_normalized_percentile":{"value":0.36257711,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"21","issue":"4","first_page":"240","last_page":"244"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11310","display_name":"Connective tissue disorders research","score":0.9970999956130981,"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"}},"topics":[{"id":"https://openalex.org/T11310","display_name":"Connective tissue disorders research","score":0.9970999956130981,"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"}},{"id":"https://openalex.org/T10618","display_name":"Aortic Disease and Treatment Approaches","score":0.002199999988079071,"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/T10983","display_name":"Aortic aneurysm repair treatments","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/monogenic-diseases","display_name":"monogenic disorders","score":0.7739999890327454},{"id":"https://openalex.org/keywords/aortic-wall","display_name":"aortic wall","score":0.8149999976158142},{"id":"https://openalex.org/keywords/aortic-root-dilation","display_name":"aortic root dilatation","score":0.9279999732971191},{"id":"https://openalex.org/keywords/ascending-aorta","display_name":"ascending aorta","score":0.925000011920929},{"id":"https://openalex.org/keywords/aortic-dissection","display_name":"aortic dissection","score":0.7649999856948853},{"id":"https://openalex.org/keywords/marfan-syndrome","display_name":"Marfan syndrome","score":0.8970000147819519},{"id":"https://openalex.org/keywords/vascular-ehlers-danlos-syndrome","display_name":"vascular Ehlers-Danlos syndrome","score":0.9829999804496765},{"id":"https://openalex.org/keywords/loeys-dietz-syndrome","display_name":"Loeys-Dietz syndrome","score":0.9990000128746033},{"id":"https://openalex.org/keywords/turner-syndrome","display_name":"Turner syndrome","score":1.0},{"id":"https://openalex.org/keywords/mutation","display_name":"genetic mutations","score":0.7839999794960022},{"id":"https://openalex.org/keywords/aortic-root-aneurysm","display_name":"aortic root aneurysm","score":0.7179999947547913}],"concepts":[{"id":"https://openalex.org/C2780561598","wikidata":"https://www.wikidata.org/wiki/Q208562","display_name":"Marfan syndrome","level":2,"score":0.8704538345336914},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5955109000205994},{"id":"https://openalex.org/C2778249958","wikidata":"https://www.wikidata.org/wiki/Q2349469","display_name":"Ascending aorta","level":3,"score":0.5779024958610535},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.5546558499336243},{"id":"https://openalex.org/C2777323849","wikidata":"https://www.wikidata.org/wiki/Q616003","display_name":"Aortic aneurysm","level":3,"score":0.547123372554779},{"id":"https://openalex.org/C2779993142","wikidata":"https://www.wikidata.org/wiki/Q594660","display_name":"Aortic dissection","level":3,"score":0.5368049740791321},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.46671292185783386},{"id":"https://openalex.org/C2775862295","wikidata":"https://www.wikidata.org/wiki/Q2660911","display_name":"Dissection (medical)","level":2,"score":0.4491550326347351},{"id":"https://openalex.org/C2776098176","wikidata":"https://www.wikidata.org/wiki/Q189389","display_name":"Aneurysm","level":2,"score":0.43980491161346436},{"id":"https://openalex.org/C2779980429","wikidata":"https://www.wikidata.org/wiki/Q101004","display_name":"Aorta","level":2,"score":0.41067272424697876},{"id":"https://openalex.org/C164705383","wikidata":"https://www.wikidata.org/wiki/Q10379","display_name":"Cardiology","level":1,"score":0.333312064409256},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.3139435648918152},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.22825327515602112},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000784","descriptor_name":"Aortic Dissection","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D000784","descriptor_name":"Aortic Dissection","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000784","descriptor_name":"Aortic Dissection","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D001011","descriptor_name":"Aorta","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D001018","descriptor_name":"Aortic Diseases","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D001018","descriptor_name":"Aortic Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D001018","descriptor_name":"Aortic Diseases","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004535","descriptor_name":"Ehlers-Danlos Syndrome","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D004535","descriptor_name":"Ehlers-Danlos Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004535","descriptor_name":"Ehlers-Danlos Syndrome","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008382","descriptor_name":"Marfan Syndrome","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D008382","descriptor_name":"Marfan Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008382","descriptor_name":"Marfan Syndrome","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014424","descriptor_name":"Turner Syndrome","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D014424","descriptor_name":"Turner Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014424","descriptor_name":"Turner Syndrome","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D017545","descriptor_name":"Aortic Aneurysm, Thoracic","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D017545","descriptor_name":"Aortic Aneurysm, Thoracic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017545","descriptor_name":"Aortic Aneurysm, Thoracic","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D055947","descriptor_name":"Loeys-Dietz Syndrome","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D055947","descriptor_name":"Loeys-Dietz Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D055947","descriptor_name":"Loeys-Dietz Syndrome","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1016/j.carpath.2011.09.004","doi":"https://doi.org/10.1016/j.carpath.2011.09.004","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.carpath.2011.09.004","pdf_url":null,"source":{"id":"https://openalex.org/S176609843","display_name":"Cardiovascular Pathology","issn_l":"1054-8807","issn":["1054-8807","1879-1336"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-1"],"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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cardiovascular Pathology","raw_type":"journal-article"},{"id":"pmid:22036072","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/22036072","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":"Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology","raw_type":"Journal Article"},{"id":"mag:2783992301","doi":null,"is_oa":false,"landing_page_url":"https://www.cardiovascularpathology.com/article/S1054-8807(11)00107-4/pdf","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320306134","display_name":"Doris Duke Charitable Foundation","ror":"https://ror.org/04n65rp89"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":40,"referenced_works":["https://openalex.org/W1483015270","https://openalex.org/W1978521363","https://openalex.org/W1981639608","https://openalex.org/W1982992457","https://openalex.org/W1984138395","https://openalex.org/W1986105178","https://openalex.org/W1987891430","https://openalex.org/W1996593920","https://openalex.org/W2009919294","https://openalex.org/W2012654546","https://openalex.org/W2013963084","https://openalex.org/W2021507021","https://openalex.org/W2023431960","https://openalex.org/W2030217247","https://openalex.org/W2035630676","https://openalex.org/W2041938961","https://openalex.org/W2053146170","https://openalex.org/W2054351373","https://openalex.org/W2056775084","https://openalex.org/W2065691575","https://openalex.org/W2077510229","https://openalex.org/W2081983661","https://openalex.org/W2087669419","https://openalex.org/W2099396948","https://openalex.org/W2108271440","https://openalex.org/W2108373584","https://openalex.org/W2114115666","https://openalex.org/W2114232003","https://openalex.org/W2122588714","https://openalex.org/W2122982779","https://openalex.org/W2125633197","https://openalex.org/W2128831381","https://openalex.org/W2130989394","https://openalex.org/W2152350731","https://openalex.org/W2153707891","https://openalex.org/W2156222569","https://openalex.org/W2313594428","https://openalex.org/W2613454590","https://openalex.org/W3151966351","https://openalex.org/W3216619223"],"related_works":["https://openalex.org/W2783992301","https://openalex.org/W2080876000","https://openalex.org/W2097793667","https://openalex.org/W1986105178","https://openalex.org/W7097991975","https://openalex.org/W7097845376","https://openalex.org/W2794491793","https://openalex.org/W3125988301","https://openalex.org/W3092464832","https://openalex.org/W7047412682"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2023,"cited_by_count":2},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":5},{"year":2016,"cited_by_count":3},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":8},{"year":2013,"cited_by_count":3},{"year":2012,"cited_by_count":2}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
