{"id":"https://openalex.org/W2242165656","doi":"https://doi.org/10.1016/s0092-8674(00)80539-5","title":"Ancient Missense Mutations in a New Member of the RoRet Gene Family Are Likely to Cause Familial Mediterranean Fever","display_name":"Ancient Missense Mutations in a New Member of the RoRet Gene Family Are Likely to Cause Familial Mediterranean Fever","publication_year":1997,"publication_date":"1997-08-01","ids":{"openalex":"https://openalex.org/W2242165656","doi":"https://doi.org/10.1016/s0092-8674(00)80539-5","mag":"2242165656","pmid":"https://pubmed.ncbi.nlm.nih.gov/9288758"},"language":"en","primary_location":{"id":"doi:10.1016/s0092-8674(00)80539-5","doi":"https://doi.org/10.1016/s0092-8674(00)80539-5","is_oa":true,"landing_page_url":"https://doi.org/10.1016/s0092-8674(00)80539-5","pdf_url":"http://www.cell.com/article/S0092867400805395/pdf","source":{"id":"https://openalex.org/S110447773","display_name":"Cell","issn_l":"0092-8674","issn":["0092-8674","1097-4172"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315673","host_organization_name":"Cell Press","host_organization_lineage":["https://openalex.org/P4310315673","https://openalex.org/P4310320990"],"host_organization_lineage_names":["Cell Press","Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cell","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":"http://www.cell.com/article/S0092867400805395/pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5049912504","display_name":"The International FMF Consortium","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"The International FMF Consortium","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5049912504"],"corresponding_institution_ids":[],"apc_list":{"value":11400,"currency":"USD","value_usd":11400},"apc_paid":null,"fwci":12.0061,"has_fulltext":false,"cited_by_count":1560,"citation_normalized_percentile":{"value":0.99312547,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":99,"max":100},"biblio":{"volume":"90","issue":"4","first_page":"797","last_page":"807"},"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/T10371","display_name":"Immune Response and Inflammation","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"}},{"id":"https://openalex.org/T14245","display_name":"Biomarkers in Disease Mechanisms","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/familial-mediterranean-fever","display_name":"familial Mediterranean fever","score":0.9940000176429749},{"id":"https://openalex.org/keywords/pyrin","display_name":"pyrin","score":0.8619999885559082},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.9819999933242798},{"id":"https://openalex.org/keywords/chromosome-16p","display_name":"chromosome 16p","score":0.8259999752044678},{"id":"https://openalex.org/keywords/gene-cloning","display_name":"gene cloning","score":0.6510000228881836},{"id":"https://openalex.org/keywords/haplotype-analysis","display_name":"haplotype analysis","score":0.843999981880188},{"id":"https://openalex.org/keywords/granulocytes","display_name":"granulocytes","score":0.8519999980926514},{"id":"https://openalex.org/keywords/acute-inflammatory-response","display_name":"acute inflammatory response","score":0.5950000286102295},{"id":"https://openalex.org/keywords/serosal-inflammation","display_name":"serosal inflammation","score":0.7450000047683716}],"concepts":[{"id":"https://openalex.org/C2779537928","wikidata":"https://www.wikidata.org/wiki/Q1144618","display_name":"Familial Mediterranean fever","level":3,"score":0.9181973934173584},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.9008960723876953},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.8475173711776733},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7724655866622925},{"id":"https://openalex.org/C139174496","wikidata":"https://www.wikidata.org/wiki/Q24725912","display_name":"Pyrin domain","level":4,"score":0.7485848069190979},{"id":"https://openalex.org/C3020804800","wikidata":"https://www.wikidata.org/wiki/Q5050812","display_name":"Positional cloning","level":4,"score":0.6675615310668945},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.6287502646446228},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.5809534788131714},{"id":"https://openalex.org/C2781145326","wikidata":"https://www.wikidata.org/wiki/Q14881867","display_name":"MEFV","level":5,"score":0.5678881406784058},{"id":"https://openalex.org/C5911399","wikidata":"https://www.wikidata.org/wiki/Q2278983","display_name":"Gene family","level":4,"score":0.42426615953445435},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4075705409049988},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.3468002676963806},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.2557194232940674},{"id":"https://openalex.org/C2994225774","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Gene mutation","level":4,"score":0.2480655014514923},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.12803101539611816},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.09566247463226318},{"id":"https://openalex.org/C2777209026","wikidata":"https://www.wikidata.org/wiki/Q412405","display_name":"Inflammasome","level":3,"score":0.07432836294174194},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.0},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.0},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000070584","descriptor_name":"Tripartite Motif Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002352","descriptor_name":"Carrier Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002885","descriptor_name":"Chromosomes, Human, Pair 16","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003001","descriptor_name":"Cloning, Molecular","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006238","descriptor_name":"Haploidy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","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":true},{"descriptor_ui":"D010505","descriptor_name":"Familial Mediterranean Fever","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017386","descriptor_name":"Sequence Homology, Amino Acid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D044767","descriptor_name":"Ubiquitin-Protein Ligases","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1016/s0092-8674(00)80539-5","doi":"https://doi.org/10.1016/s0092-8674(00)80539-5","is_oa":true,"landing_page_url":"https://doi.org/10.1016/s0092-8674(00)80539-5","pdf_url":"http://www.cell.com/article/S0092867400805395/pdf","source":{"id":"https://openalex.org/S110447773","display_name":"Cell","issn_l":"0092-8674","issn":["0092-8674","1097-4172"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315673","host_organization_name":"Cell Press","host_organization_lineage":["https://openalex.org/P4310315673","https://openalex.org/P4310320990"],"host_organization_lineage_names":["Cell Press","Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cell","raw_type":"journal-article"},{"id":"pmid:9288758","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9288758","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":"Cell","raw_type":"Journal Article"},{"id":"pmh:oai:digital.library.adelaide.edu.au:2440/11402","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/2440/11402","pdf_url":null,"source":{"id":"https://openalex.org/S4306401835","display_name":"Adelaide Research & Scholarship (AR&S) (University of Adelaide)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I5681781","host_organization_name":"The University of Adelaide","host_organization_lineage":["https://openalex.org/I5681781"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"https://doi.org/10.1016/s0092-8674(00)80539-5","raw_type":"Journal article"},{"id":"mag:2523844788","doi":null,"is_oa":false,"landing_page_url":"https://www.scienceopen.com/document?vid=a4eda3be-6aab-4304-867e-10ce9c251d40","pdf_url":null,"source":{"id":"https://openalex.org/S110447773","display_name":"Cell","issn_l":"0092-8674","issn":["0092-8674","1097-4172"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315673","host_organization_name":"Cell Press","host_organization_lineage":["https://openalex.org/P4310315673","https://openalex.org/P4310320990"],"host_organization_lineage_names":["Cell Press","Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"Cell","raw_type":null}],"best_oa_location":{"id":"doi:10.1016/s0092-8674(00)80539-5","doi":"https://doi.org/10.1016/s0092-8674(00)80539-5","is_oa":true,"landing_page_url":"https://doi.org/10.1016/s0092-8674(00)80539-5","pdf_url":"http://www.cell.com/article/S0092867400805395/pdf","source":{"id":"https://openalex.org/S110447773","display_name":"Cell","issn_l":"0092-8674","issn":["0092-8674","1097-4172"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315673","host_organization_name":"Cell Press","host_organization_lineage":["https://openalex.org/P4310315673","https://openalex.org/P4310320990"],"host_organization_lineage_names":["Cell Press","Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cell","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.8371999859809875}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2242165656.pdf"},"referenced_works_count":49,"referenced_works":["https://openalex.org/W1483242733","https://openalex.org/W1528194826","https://openalex.org/W1544327090","https://openalex.org/W1582182853","https://openalex.org/W1595484010","https://openalex.org/W1599826790","https://openalex.org/W1738521646","https://openalex.org/W1880966689","https://openalex.org/W1907677934","https://openalex.org/W1965010154","https://openalex.org/W1973929401","https://openalex.org/W1977990574","https://openalex.org/W1980442164","https://openalex.org/W1980614922","https://openalex.org/W1985818354","https://openalex.org/W1991447837","https://openalex.org/W1991971961","https://openalex.org/W1992743511","https://openalex.org/W1994704939","https://openalex.org/W2000035207","https://openalex.org/W2003991011","https://openalex.org/W2006337228","https://openalex.org/W2013136212","https://openalex.org/W2036847912","https://openalex.org/W2041985900","https://openalex.org/W2046572926","https://openalex.org/W2051119339","https://openalex.org/W2052463861","https://openalex.org/W2055043387","https://openalex.org/W2058389782","https://openalex.org/W2060088582","https://openalex.org/W2069383167","https://openalex.org/W2074059423","https://openalex.org/W2074952408","https://openalex.org/W2087418803","https://openalex.org/W2089852194","https://openalex.org/W2092264647","https://openalex.org/W2112259768","https://openalex.org/W2112852533","https://openalex.org/W2116656855","https://openalex.org/W2119278180","https://openalex.org/W2144299376","https://openalex.org/W2156867933","https://openalex.org/W2336779395","https://openalex.org/W2412333388","https://openalex.org/W2915190566","https://openalex.org/W2917261338","https://openalex.org/W6631534264","https://openalex.org/W6635662696"],"related_works":["https://openalex.org/W2523844788","https://openalex.org/W4237212712","https://openalex.org/W2147333496","https://openalex.org/W7097157303","https://openalex.org/W1525063803","https://openalex.org/W2188065723","https://openalex.org/W4321602128","https://openalex.org/W7095530115","https://openalex.org/W2054912787","https://openalex.org/W2164905155"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":28},{"year":2025,"cited_by_count":38},{"year":2024,"cited_by_count":39},{"year":2023,"cited_by_count":54},{"year":2022,"cited_by_count":47},{"year":2021,"cited_by_count":65},{"year":2020,"cited_by_count":75},{"year":2019,"cited_by_count":76},{"year":2018,"cited_by_count":47},{"year":2017,"cited_by_count":61},{"year":2016,"cited_by_count":64},{"year":2015,"cited_by_count":69},{"year":2014,"cited_by_count":72},{"year":2013,"cited_by_count":68},{"year":2012,"cited_by_count":67}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}
