{"id":"https://openalex.org/W4317870970","doi":"https://doi.org/10.1093/rheumatology/kead044","title":"Detection of a rare variant inPSTPIP1through three generations in a family with an initial diagnosis of FMF/MKD-overlapping phenotype","display_name":"Detection of a rare variant inPSTPIP1through three generations in a family with an initial diagnosis of FMF/MKD-overlapping phenotype","publication_year":2023,"publication_date":"2023-01-23","ids":{"openalex":"https://openalex.org/W4317870970","doi":"https://doi.org/10.1093/rheumatology/kead044","pmid":"https://pubmed.ncbi.nlm.nih.gov/36692132"},"language":"en","primary_location":{"id":"doi:10.1093/rheumatology/kead044","doi":"https://doi.org/10.1093/rheumatology/kead044","is_oa":true,"landing_page_url":"https://doi.org/10.1093/rheumatology/kead044","pdf_url":"https://academic.oup.com/rheumatology/advance-article-pdf/doi/10.1093/rheumatology/kead044/49118284/kead044.pdf","source":{"id":"https://openalex.org/S183989336","display_name":"Rheumatology","issn_l":"1462-0324","issn":["1462-0324","1462-0332"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Rheumatology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://academic.oup.com/rheumatology/advance-article-pdf/doi/10.1093/rheumatology/kead044/49118284/kead044.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5024509890","display_name":"Merve \u00d6zk\u0131l\u0131n\u00e7 \u00d6nen","orcid":"https://orcid.org/0000-0002-3988-2464","observed_orcids":["https://orcid.org/0000-0002-3988-2464"]},"institutions":[{"id":"https://openalex.org/I48912391","display_name":"Istanbul Technical University","ror":"https://ror.org/059636586","country_code":"TR","type":"education","lineage":["https://openalex.org/I48912391"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Merve \u00d6zk\u0131l\u0131n\u00e7 \u00d6nen","raw_affiliation_strings":["Molecular Biology-Genetics and Biotechnology Program, Graduate School of Science, Engineering and Technology, Istanbul Technical University , Istanbul, Turkey"],"raw_orcid":"https://orcid.org/0000-0002-3988-2464","affiliations":[{"raw_affiliation_string":"Molecular Biology-Genetics and Biotechnology Program, Graduate School of Science, Engineering and Technology, Istanbul Technical University , Istanbul, Turkey","institution_ids":["https://openalex.org/I48912391"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023016254","display_name":"Umut \u0130nci Onat","orcid":"https://orcid.org/0000-0003-4360-9310","observed_orcids":["https://orcid.org/0000-0003-4360-9310"]},"institutions":[{"id":"https://openalex.org/I322491407","display_name":"Ac\u0131badem University","ror":"https://ror.org/01rp2a061","country_code":"TR","type":"education","lineage":["https://openalex.org/I322491407"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Umut \u0130 Onat","raw_affiliation_strings":["Department of Molecular Biology and Genetics, Faculty of Engineering and Natural Sciences, Ac\u0131badem University , Istanbul, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Biology and Genetics, Faculty of Engineering and Natural Sciences, Ac\u0131badem University , Istanbul, Turkey","institution_ids":["https://openalex.org/I322491407"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039434152","display_name":"Serdal U\u011furlu","orcid":"https://orcid.org/0000-0002-9561-2282","observed_orcids":["https://orcid.org/0000-0002-9561-2282"]},"institutions":[{"id":"https://openalex.org/I4210112471","display_name":"Istanbul University-Cerrahpa\u015fa","ror":"https://ror.org/01dzn5f42","country_code":"TR","type":"education","lineage":["https://openalex.org/I4210112471"]},{"id":"https://openalex.org/I67581229","display_name":"Istanbul University","ror":"https://ror.org/03a5qrr21","country_code":"TR","type":"education","lineage":["https://openalex.org/I67581229"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Serdal U\u011furlu","raw_affiliation_strings":["Division of Rheumatology, Department of Internal Medicine, Cerrahpa\u015fa Medical Faculty, Istanbul University-Cerrahpa\u015fa , Istanbul, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Rheumatology, Department of Internal Medicine, Cerrahpa\u015fa Medical Faculty, Istanbul University-Cerrahpa\u015fa , Istanbul, Turkey","institution_ids":["https://openalex.org/I4210112471","https://openalex.org/I67581229"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066246686","display_name":"Ahmet Can Timu\u00e7in","orcid":"https://orcid.org/0000-0002-9483-3593","observed_orcids":["https://orcid.org/0000-0002-9483-3593"]},"institutions":[{"id":"https://openalex.org/I322491407","display_name":"Ac\u0131badem University","ror":"https://ror.org/01rp2a061","country_code":"TR","type":"education","lineage":["https://openalex.org/I322491407"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Ahmet C Timu\u00e7in","raw_affiliation_strings":["Department of Molecular Biology and Genetics, Faculty of Engineering and Natural Sciences, Ac\u0131badem University , Istanbul, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Biology and Genetics, Faculty of Engineering and Natural Sciences, Ac\u0131badem University , Istanbul, Turkey","institution_ids":["https://openalex.org/I322491407"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031507978","display_name":"Devrim \u00d6z Arslan","orcid":"https://orcid.org/0000-0001-7739-2346","observed_orcids":["https://orcid.org/0000-0001-7739-2346"]},"institutions":[{"id":"https://openalex.org/I322491407","display_name":"Ac\u0131badem University","ror":"https://ror.org/01rp2a061","country_code":"TR","type":"education","lineage":["https://openalex.org/I322491407"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Devrim \u00d6z Arslan","raw_affiliation_strings":["Biophysics, Department of Basic Sciences, School of Medicine, Ac\u0131badem University , Istanbul, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biophysics, Department of Basic Sciences, School of Medicine, Ac\u0131badem University , Istanbul, Turkey","institution_ids":["https://openalex.org/I322491407"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053508841","display_name":"Elif Everest","orcid":"https://orcid.org/0000-0002-1228-3955","observed_orcids":["https://orcid.org/0000-0002-1228-3955","https://orcid.org/0000-0001-7898-7800"]},"institutions":[{"id":"https://openalex.org/I48912391","display_name":"Istanbul Technical University","ror":"https://ror.org/059636586","country_code":"TR","type":"education","lineage":["https://openalex.org/I48912391"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Elif Everest","raw_affiliation_strings":["Department of Molecular Biology and Genetics, Faculty of Science and Letters, Istanbul Technical University , Istanbul, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Biology and Genetics, Faculty of Science and Letters, Istanbul Technical University , Istanbul, Turkey","institution_ids":["https://openalex.org/I48912391"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075666115","display_name":"Huri \u00d6zdo\u011fan","orcid":"https://orcid.org/0000-0003-4632-8258","observed_orcids":["https://orcid.org/0000-0003-4632-8258"]},"institutions":[{"id":"https://openalex.org/I4210112471","display_name":"Istanbul University-Cerrahpa\u015fa","ror":"https://ror.org/01dzn5f42","country_code":"TR","type":"education","lineage":["https://openalex.org/I4210112471"]},{"id":"https://openalex.org/I67581229","display_name":"Istanbul University","ror":"https://ror.org/03a5qrr21","country_code":"TR","type":"education","lineage":["https://openalex.org/I67581229"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Huri \u00d6zdo\u011fan","raw_affiliation_strings":["Division of Rheumatology, Department of Internal Medicine, Cerrahpa\u015fa Medical Faculty, Istanbul University-Cerrahpa\u015fa , Istanbul, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Rheumatology, Department of Internal Medicine, Cerrahpa\u015fa Medical Faculty, Istanbul University-Cerrahpa\u015fa , Istanbul, Turkey","institution_ids":["https://openalex.org/I4210112471","https://openalex.org/I67581229"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5037614319","display_name":"Eda Tahir Turanl\u0131","orcid":"https://orcid.org/0000-0002-0789-0398","observed_orcids":["https://orcid.org/0000-0002-0789-0398"]},"institutions":[{"id":"https://openalex.org/I322491407","display_name":"Ac\u0131badem University","ror":"https://ror.org/01rp2a061","country_code":"TR","type":"education","lineage":["https://openalex.org/I322491407"]}],"countries":["TR"],"is_corresponding":true,"raw_author_name":"Eda Tahir Turanl\u0131","raw_affiliation_strings":["Department of Molecular Biology and Genetics, Faculty of Engineering and Natural Sciences, Ac\u0131badem University , Istanbul, Turkey","Molecular and Translational Biomedicine Program, Graduate School of Natural and Applied Sciences, Ac\u0131badem University , Istanbul, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Biology and Genetics, Faculty of Engineering and Natural Sciences, Ac\u0131badem University , Istanbul, Turkey","institution_ids":["https://openalex.org/I322491407"]},{"raw_affiliation_string":"Molecular and Translational Biomedicine Program, Graduate School of Natural and Applied Sciences, Ac\u0131badem University , Istanbul, Turkey","institution_ids":["https://openalex.org/I322491407"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5037614319"],"corresponding_institution_ids":["https://openalex.org/I322491407"],"apc_list":{"value":3192,"currency":"GBP","value_usd":3970},"apc_paid":null,"fwci":0.3089,"has_fulltext":true,"cited_by_count":4,"citation_normalized_percentile":{"value":0.41468008,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":95},"biblio":{"volume":"62","issue":"9","first_page":"3188","last_page":"3196"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11078","display_name":"Inflammasome and immune disorders","score":1.0,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/T11078","display_name":"Inflammasome and immune disorders","score":1.0,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/T11642","display_name":"Genomics and Rare Diseases","score":0.0,"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/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/pstpip1","display_name":"PSTPIP1","score":0.9980000257492065},{"id":"https://openalex.org/keywords/familial-mediterranean-fever","display_name":"familial Mediterranean fever","score":0.953000009059906},{"id":"https://openalex.org/keywords/mevalonate-kinase-deficiency","display_name":"mevalonate kinase deficiency","score":0.9990000128746033},{"id":"https://openalex.org/keywords/pyrin","display_name":"pyrin","score":0.6880000233650208},{"id":"https://openalex.org/keywords/pyrin-inflammasome","display_name":"pyrin inflammasome","score":0.9399999976158142},{"id":"https://openalex.org/keywords/caspase-1","display_name":"caspase-1","score":0.9279999732971191},{"id":"https://openalex.org/keywords/interleukin-1beta","display_name":"IL-1\u03b2","score":0.8420000076293945},{"id":"https://openalex.org/keywords/genetic-heterogeneity","display_name":"genetic heterogeneity","score":0.7870000004768372},{"id":"https://openalex.org/keywords/autoinflammatory-disease","display_name":"autoinflammatory disease","score":0.8550000190734863},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.7870000004768372},{"id":"https://openalex.org/keywords/variants-of-uncertain-significance","display_name":"variants of uncertain significance","score":0.6970000267028809},{"id":"https://openalex.org/keywords/protein-stability","display_name":"protein stability","score":0.6970000267028809}],"concepts":[{"id":"https://openalex.org/C139174496","wikidata":"https://www.wikidata.org/wiki/Q24725912","display_name":"Pyrin domain","level":4,"score":0.9786397218704224},{"id":"https://openalex.org/C2781145326","wikidata":"https://www.wikidata.org/wiki/Q14881867","display_name":"MEFV","level":5,"score":0.9424155354499817},{"id":"https://openalex.org/C2779537928","wikidata":"https://www.wikidata.org/wiki/Q1144618","display_name":"Familial Mediterranean fever","level":3,"score":0.7471526861190796},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6684098839759827},{"id":"https://openalex.org/C2777209026","wikidata":"https://www.wikidata.org/wiki/Q412405","display_name":"Inflammasome","level":3,"score":0.6091743111610413},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.5348924994468689},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.5076836347579956},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.41396987438201904},{"id":"https://openalex.org/C2776914184","wikidata":"https://www.wikidata.org/wiki/Q101991","display_name":"Inflammation","level":2,"score":0.3950307369232178},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3623526692390442},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.30372560024261475},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.25257354974746704},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.1938386857509613},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.18267443776130676},{"id":"https://openalex.org/C2994225774","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Gene mutation","level":4,"score":0.17433902621269226}],"mesh":[{"descriptor_ui":"D000071198","descriptor_name":"Pyrin","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003598","descriptor_name":"Cytoskeletal Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007249","descriptor_name":"Inflammation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007963","descriptor_name":"Leukocytes, Mononuclear","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010505","descriptor_name":"Familial Mediterranean Fever","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020170","descriptor_name":"Caspase 1","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D048868","descriptor_name":"Adaptor Proteins, Signal Transducing","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D054078","descriptor_name":"Mevalonate Kinase Deficiency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1093/rheumatology/kead044","doi":"https://doi.org/10.1093/rheumatology/kead044","is_oa":true,"landing_page_url":"https://doi.org/10.1093/rheumatology/kead044","pdf_url":"https://academic.oup.com/rheumatology/advance-article-pdf/doi/10.1093/rheumatology/kead044/49118284/kead044.pdf","source":{"id":"https://openalex.org/S183989336","display_name":"Rheumatology","issn_l":"1462-0324","issn":["1462-0324","1462-0332"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Rheumatology","raw_type":"journal-article"},{"id":"pmid:36692132","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/36692132","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":"Rheumatology (Oxford, England)","raw_type":"Journal Article"},{"id":"pmh:oai:polen.itu.edu.tr:11527/37585","doi":null,"is_oa":false,"landing_page_url":"https://hdl.handle.net/11527/37585","pdf_url":null,"source":{"id":"https://openalex.org/S4306400460","display_name":"Istanbul Technical University Academic Open Archive (Istanbul Technical University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I48912391","host_organization_name":"Istanbul Technical University","host_organization_lineage":["https://openalex.org/I48912391"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Article"}],"best_oa_location":{"id":"doi:10.1093/rheumatology/kead044","doi":"https://doi.org/10.1093/rheumatology/kead044","is_oa":true,"landing_page_url":"https://doi.org/10.1093/rheumatology/kead044","pdf_url":"https://academic.oup.com/rheumatology/advance-article-pdf/doi/10.1093/rheumatology/kead044/49118284/kead044.pdf","source":{"id":"https://openalex.org/S183989336","display_name":"Rheumatology","issn_l":"1462-0324","issn":["1462-0324","1462-0332"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Rheumatology","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9907000064849854}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320324489","display_name":"Istanbul Teknik \u00dcniversitesi","ror":"https://ror.org/059636586"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4317870970.pdf","grobid_xml":"https://content.openalex.org/works/W4317870970.grobid-xml"},"referenced_works_count":51,"referenced_works":["https://openalex.org/W1529674879","https://openalex.org/W1596257295","https://openalex.org/W1892696710","https://openalex.org/W1978034623","https://openalex.org/W1992373415","https://openalex.org/W2001444906","https://openalex.org/W2004684128","https://openalex.org/W2005477006","https://openalex.org/W2008631375","https://openalex.org/W2008975916","https://openalex.org/W2013497239","https://openalex.org/W2013606896","https://openalex.org/W2023490488","https://openalex.org/W2033698154","https://openalex.org/W2066503618","https://openalex.org/W2071124826","https://openalex.org/W2081912151","https://openalex.org/W2083062923","https://openalex.org/W2101191856","https://openalex.org/W2102429140","https://openalex.org/W2103459989","https://openalex.org/W2104908778","https://openalex.org/W2108779268","https://openalex.org/W2109824852","https://openalex.org/W2120819598","https://openalex.org/W2133066387","https://openalex.org/W2135395364","https://openalex.org/W2136513422","https://openalex.org/W2149580316","https://openalex.org/W2153467733","https://openalex.org/W2163627937","https://openalex.org/W2166865493","https://openalex.org/W2167386831","https://openalex.org/W2319028007","https://openalex.org/W2392016048","https://openalex.org/W2418840180","https://openalex.org/W2475937536","https://openalex.org/W2751371044","https://openalex.org/W2787125584","https://openalex.org/W2899963725","https://openalex.org/W2914803667","https://openalex.org/W3004414131","https://openalex.org/W3023299509","https://openalex.org/W3045795522","https://openalex.org/W3103705566","https://openalex.org/W3158002050","https://openalex.org/W3177828909","https://openalex.org/W4213388533","https://openalex.org/W4236281293","https://openalex.org/W4242625755","https://openalex.org/W6776725569"],"related_works":["https://openalex.org/W4323036185","https://openalex.org/W3103705566","https://openalex.org/W2286233661","https://openalex.org/W2168943759","https://openalex.org/W2330251034","https://openalex.org/W3207340354","https://openalex.org/W4405740003","https://openalex.org/W4285193098","https://openalex.org/W7223176487","https://openalex.org/W2969534048"],"abstract_inverted_index":{"OBJECTIVE:":[0],"The":[1,126],"presence":[2,31],"of":[3,32,68,88,108,162,183,231],"FMF":[4],"cases":[5,197],"without":[6,46],"MEFV":[7],"(MEFV":[8],"innate":[9],"immunity":[10],"regulator,":[11],"pyrin)":[12],"pathogenic":[13,50],"variants":[14],"led":[15],"us":[16],"to":[17,244],"search":[18],"for":[19],"other":[20],"genes'":[21],"involvement":[22],"in":[23,35,61,82,114,123,136,147,173,180,188,226,240],"the":[24,30,148,163,176,189,211,223,227,237],"disease":[25],"development.":[26],"Here,":[27],"we":[28,234],"describe":[29],"genetic":[33,224],"heterogeneity":[34,225],"a":[36,56,139,158],"three-generation":[37],"family":[38,149],"with":[39,141,198,210,215],"an":[40,151,216],"FMF/mevalonate":[41],"kinase":[42],"deficiency":[43],"(MKD)-overlapping":[44],"phenotype":[45],"MEFV/MVK":[47],"(mevalonate":[48],"kinase)":[49],"variants.":[51],"METHOD:":[52],"Targeted":[53],"sequencing":[54],"revealed":[55],"rare,":[57],"fully":[58],"penetrant":[59],"variant":[60,140,164,213,239],"PSTPIP1":[62,69,113,131,166,206,241],"(p.Arg228Cys,":[63],"rs781341816).":[64],"Computational":[65,155],"stability":[66],"analyses":[67,156],"protein":[70,74,105],"were":[71,94],"performed.":[72],"PSTPIP1-pyrin":[73,169,249],"interaction":[75,170,250],"was":[76,98,171],"examined":[77],"by":[78,100,104],"immunoprecipitation":[79],"and":[80,90,96,112,117,120,186,203,251],"immunoblotting":[81],"peripheral":[83],"blood":[84],"mononuclear":[85],"cells":[86],"(PBMCs)":[87],"patients":[89,174,209],"healthy":[91],"controls.":[92],"PBMCs":[93],"cultured,":[95],"inflammation":[97,245],"induced":[99],"LPS+ATP":[101],"treatment,":[102],"followed":[103],"level":[106],"measurements":[107],"caspase-1,":[109],"IL1\u00df,":[110],"pyrin":[111,252],"cell":[115],"lysates":[116],"mature":[118,121,184],"caspase-1":[119,185],"IL1\u00df":[122,187],"supernatants.":[124],"RESULTS:":[125],"conserved,":[127],"rare":[128],"(GnomAD,":[129],"0.000028)":[130],"p.Arg228Cys":[132,212,238],"variant,":[133,177],"previously":[134,195],"reported":[135],"ClinVar":[137],"as":[138],"uncertain":[142],"significance,":[143],"showed":[144,157],"complete":[145],"penetrance":[146],"presenting":[150],"autosomal":[152],"dominant":[153],"pattern.":[154],"potentially":[159],"destabilizing":[160],"effect":[161],"on":[165,222],"protein.":[167],"Accordingly,":[168],"increased":[172],"harboring":[175],"which":[178],"resulted":[179],"elevated":[181],"levels":[182],"inflammation-induced":[190],"patient":[191],"samples.":[192],"CONCLUSIONS:":[193],"Unlike":[194],"described":[196],"pyogenic":[199],"arthritis,":[200],"pyoderma":[201],"gangrenosum,":[202],"acne":[204],"(PAPA)-associated":[205],"variants,":[207],"our":[208],"presented":[214],"FMF/MKD-overlapping":[217],"phenotype.":[218],"As":[219],"additional":[220],"data":[221],"variable":[228],"clinical":[229],"spectrum":[230],"autoinflammatory":[232],"syndromes,":[233],"suggest":[235],"that":[236],"is":[242],"related":[243],"responses":[246],"through":[247],"strong":[248],"inflammasome":[253],"activation.":[254]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":2},{"year":2023,"cited_by_count":1}],"updated_date":"2026-11-05T12:25:35.769452","created_date":"2023-01-25T00:00:00"}