{"id":"https://openalex.org/W3040868007","doi":"https://doi.org/10.1016/j.thromres.2020.07.014","title":"Biallelic variants in PROZ as a cause of hypercoagulability and livedo racemosa","display_name":"Biallelic variants in PROZ as a cause of hypercoagulability and livedo racemosa","publication_year":2020,"publication_date":"2020-07-08","ids":{"openalex":"https://openalex.org/W3040868007","doi":"https://doi.org/10.1016/j.thromres.2020.07.014","mag":"3040868007","pmid":"https://pubmed.ncbi.nlm.nih.gov/32721632"},"language":"en","primary_location":{"id":"doi:10.1016/j.thromres.2020.07.014","doi":"https://doi.org/10.1016/j.thromres.2020.07.014","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.thromres.2020.07.014","pdf_url":null,"source":{"id":"https://openalex.org/S134546602","display_name":"Thrombosis Research","issn_l":"0049-3848","issn":["0049-3848","1879-2472"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"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":"Thrombosis Research","raw_type":"journal-article"},"volume":null,"type":"article","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/A5043429681","display_name":"Filippo Pinto e Vairo","orcid":"https://orcid.org/0000-0001-6030-1903","observed_orcids":["https://orcid.org/0000-0001-6030-1903"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Filippo Pinto e Vairo","raw_affiliation_strings":["Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA","Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018033725","display_name":"Sarah A. Kroc","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sarah A. Kroc","raw_affiliation_strings":["Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069707187","display_name":"Nicole L. Bertsch","orcid":"https://orcid.org/0000-0001-9551-4861","observed_orcids":["https://orcid.org/0000-0001-9551-4861"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Nicole L. Bertsch","raw_affiliation_strings":["Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5106858818","display_name":"Ashley N. Sigafoos","orcid":"https://orcid.org/0000-0002-4237-644X","observed_orcids":["https://orcid.org/0000-0002-4237-644X"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ashley N. Sigafoos","raw_affiliation_strings":["Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA","Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA","Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101497618","display_name":"Han B. Lee","orcid":"https://orcid.org/0000-0002-6633-966X","observed_orcids":["https://orcid.org/0000-0002-6633-966X"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Han B. Lee","raw_affiliation_strings":["Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001517067","display_name":"Nikita R. Dsouza","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I204308271","display_name":"Medical College of Wisconsin","ror":"https://ror.org/00qqv6244","country_code":"US","type":"education","lineage":["https://openalex.org/I204308271"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Nikita R. Dsouza","raw_affiliation_strings":["Bioinformatics Research and Development Laboratory, Genomics Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Bioinformatics Research and Development Laboratory, Genomics Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA","institution_ids":["https://openalex.org/I204308271"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010047567","display_name":"Karl J. Clark","orcid":"https://orcid.org/0000-0002-9637-0967","observed_orcids":["https://orcid.org/0000-0002-9637-0967"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Karl J. Clark","raw_affiliation_strings":["Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA","Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA","Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065352274","display_name":"Pavel N. Pichurin","orcid":"https://orcid.org/0000-0002-6336-136X","observed_orcids":["https://orcid.org/0000-0002-6336-136X"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Pavel N. Pichurin","raw_affiliation_strings":["Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA","Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA","Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054127002","display_name":"Michael T. Zimmermann","orcid":"https://orcid.org/0000-0001-7073-0525","observed_orcids":["https://orcid.org/0000-0001-7073-0525"]},"institutions":[{"id":"https://openalex.org/I204308271","display_name":"Medical College of Wisconsin","ror":"https://ror.org/00qqv6244","country_code":"US","type":"education","lineage":["https://openalex.org/I204308271"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Michael T. Zimmermann","raw_affiliation_strings":["Bioinformatics Research and Development Laboratory, Genomics Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI, USA. Electronic address: mtzimmermann@mcw.edu","Bioinformatics Research and Development Laboratory, Genomics Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA","Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Bioinformatics Research and Development Laboratory, Genomics Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI, USA. Electronic address: mtzimmermann@mcw.edu","institution_ids":["https://openalex.org/I204308271"]},{"raw_affiliation_string":"Bioinformatics Research and Development Laboratory, Genomics Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA","institution_ids":["https://openalex.org/I204308271"]},{"raw_affiliation_string":"Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI, USA","institution_ids":["https://openalex.org/I204308271"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5044058635","display_name":"Eric W. Klee","orcid":"https://orcid.org/0000-0003-2946-5795","observed_orcids":["https://orcid.org/0000-0003-2946-5795"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Eric W. Klee","raw_affiliation_strings":["Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA. Electronic address: klee.eric@mayo.edu","Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA","Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA","Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA. Electronic address: klee.eric@mayo.edu","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA","institution_ids":["https://openalex.org/I1330342723"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5044058635","https://openalex.org/A5054127002"],"corresponding_institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I204308271"],"apc_list":{"value":3150,"currency":"USD","value_usd":3150},"apc_paid":null,"fwci":0.1666,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.47409871,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"195","issue":null,"first_page":"187","last_page":"189"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10881","display_name":"Blood Coagulation and Thrombosis Mechanisms","score":0.9976000189781189,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"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/T10881","display_name":"Blood Coagulation and Thrombosis Mechanisms","score":0.9976000189781189,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"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/T10993","display_name":"Complement system in diseases","score":0.000699999975040555,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10746","display_name":"Platelet Disorders and Treatments","score":0.0003000000142492354,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"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/protein-z","display_name":"protein Z","score":0.8730000257492065},{"id":"https://openalex.org/keywords/biallelic-mutations","display_name":"biallelic variants","score":0.9240000247955322},{"id":"https://openalex.org/keywords/hypercoagulability","display_name":"hypercoagulability","score":0.9079999923706055},{"id":"https://openalex.org/keywords/livedo-racemosa","display_name":"livedo racemosa","score":0.9290000200271606},{"id":"https://openalex.org/keywords/inherited-thrombophilia","display_name":"inherited thrombophilia","score":0.9660000205039978},{"id":"https://openalex.org/keywords/venous-thromboembolism","display_name":"venous thromboembolism","score":0.9800000190734863},{"id":"https://openalex.org/keywords/protein-z-dependent-protease-inhibitor","display_name":"protein Z-dependent protease inhibitor","score":0.8389999866485596},{"id":"https://openalex.org/keywords/factor-xa-inhibition","display_name":"factor Xa inhibition","score":0.6759999990463257},{"id":"https://openalex.org/keywords/gla-domain","display_name":"Gla domain","score":0.628000020980835},{"id":"https://openalex.org/keywords/serine-protease-domain","display_name":"serine protease domain","score":0.7139999866485596},{"id":"https://openalex.org/keywords/egf-like-domain","display_name":"EGF-like domain","score":0.5080000162124634},{"id":"https://openalex.org/keywords/protein-z-deficiency","display_name":"protein Z deficiency","score":0.4099999964237213},{"id":"https://openalex.org/keywords/inherited-coagulation-disorders","display_name":"inherited coagulation disorders","score":0.47699999809265137}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6324222683906555},{"id":"https://openalex.org/C16005928","wikidata":"https://www.wikidata.org/wiki/Q171171","display_name":"Dermatology","level":1,"score":0.4087945818901062}],"mesh":[{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019851","descriptor_name":"Thrombophilia","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D019851","descriptor_name":"Thrombophilia","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D019851","descriptor_name":"Thrombophilia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D054068","descriptor_name":"Livedo Reticularis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1016/j.thromres.2020.07.014","doi":"https://doi.org/10.1016/j.thromres.2020.07.014","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.thromres.2020.07.014","pdf_url":null,"source":{"id":"https://openalex.org/S134546602","display_name":"Thrombosis Research","issn_l":"0049-3848","issn":["0049-3848","1879-2472"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"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":"Thrombosis Research","raw_type":"journal-article"},{"id":"pmid:32721632","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/32721632","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":"Thrombosis research","raw_type":"Letter"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.98580002784729,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320306143","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03"},{"id":"https://openalex.org/F4320310914","display_name":"Medical College of Wisconsin","ror":"https://ror.org/00qqv6244"},{"id":"https://openalex.org/F4320333659","display_name":"Center for Individualized Medicine, Mayo Clinic","ror":"https://ror.org/03zzw1w08"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":8,"referenced_works":["https://openalex.org/W2013279581","https://openalex.org/W2017101151","https://openalex.org/W2022692513","https://openalex.org/W2051813173","https://openalex.org/W2053868883","https://openalex.org/W2064736463","https://openalex.org/W2071095575","https://openalex.org/W2078065841"],"related_works":["https://openalex.org/W3214246029","https://openalex.org/W2039406355","https://openalex.org/W1836360081","https://openalex.org/W2035280958","https://openalex.org/W2313383830","https://openalex.org/W2115885282","https://openalex.org/W4392588800","https://openalex.org/W2045473459","https://openalex.org/W1593290072","https://openalex.org/W1994948289"],"abstract_inverted_index":null,"counts_by_year":[{"year":2020,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2020-07-16T00:00:00"}