{"id":"https://openalex.org/W2101991699","doi":"https://doi.org/10.1093/bioinformatics/btg370","title":"Disease-associated variants in PYPAF1 and NOD2 result in similar alterations of conserved sequence","display_name":"Disease-associated variants in PYPAF1 and NOD2 result in similar alterations of conserved sequence","publication_year":2003,"publication_date":"2003-11-20","ids":{"openalex":"https://openalex.org/W2101991699","doi":"https://doi.org/10.1093/bioinformatics/btg370","mag":"2101991699","pmid":"https://pubmed.ncbi.nlm.nih.gov/14630645"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/btg370","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btg370","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/19/17/2171/48904662/bioinformatics_19_17_2171.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":false,"is_in_doaj":true,"is_core":true,"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":"Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://academic.oup.com/bioinformatics/article-pdf/19/17/2171/48904662/bioinformatics_19_17_2171.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5108484144","display_name":"Mario Albrecht","orcid":null},"institutions":[{"id":"https://openalex.org/I149899117","display_name":"Max Planck Society","ror":"https://ror.org/01hhn8329","country_code":"DE","type":"funder","lineage":["https://openalex.org/I149899117"]},{"id":"https://openalex.org/I4210109712","display_name":"Max Planck Institute for Informatics","ror":"https://ror.org/01w19ak89","country_code":"DE","type":"facility","lineage":["https://openalex.org/I149899117","https://openalex.org/I4210109712"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Mario Albrecht","raw_affiliation_strings":["Max-Planck-Institute for Informatics, Stuhlsatzenhausweg 85, 66123 Saarbr\u00fccken, Germany. maario.albrecht@mpi-sb.mpg.de","Computational Biology and Applied Algorithmics, MPI for Informatics, Max Planck Society"],"affiliations":[{"raw_affiliation_string":"Max-Planck-Institute for Informatics, Stuhlsatzenhausweg 85, 66123 Saarbr\u00fccken, Germany. maario.albrecht@mpi-sb.mpg.de","institution_ids":["https://openalex.org/I4210109712"]},{"raw_affiliation_string":"Computational Biology and Applied Algorithmics, MPI for Informatics, Max Planck Society","institution_ids":["https://openalex.org/I149899117"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023556977","display_name":"Thomas Lengauer","orcid":"https://orcid.org/0000-0003-3801-2640"},"institutions":[{"id":"https://openalex.org/I149899117","display_name":"Max Planck Society","ror":"https://ror.org/01hhn8329","country_code":"DE","type":"funder","lineage":["https://openalex.org/I149899117"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Thomas Lengauer","raw_affiliation_strings":["Computational Biology and Applied Algorithmics, MPI for Informatics, Max Planck Society"],"affiliations":[{"raw_affiliation_string":"Computational Biology and Applied Algorithmics, MPI for Informatics, Max Planck Society","institution_ids":["https://openalex.org/I149899117"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5059435501","display_name":"Stefan Schreiber","orcid":"https://orcid.org/0000-0003-2254-7771"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Stefan Schreiber","raw_affiliation_strings":[],"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5108484144"],"corresponding_institution_ids":["https://openalex.org/I149899117","https://openalex.org/I4210109712"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":null,"fwci":0.6863,"has_fulltext":false,"cited_by_count":19,"citation_normalized_percentile":{"value":0.67794962,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":96},"biblio":{"volume":"19","issue":"17","first_page":"2171","last_page":"2175"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11482","display_name":"RNA modifications and cancer","score":0.9987000226974487,"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/T11482","display_name":"RNA modifications and cancer","score":0.9987000226974487,"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/T10583","display_name":"Cancer-related Molecular Pathways","score":0.9923999905586243,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"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/T10294","display_name":"Cell death mechanisms and regulation","score":0.9921000003814697,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/sequence","display_name":"Sequence (biology)","score":0.740842342376709},{"id":"https://openalex.org/keywords/conserved-sequence","display_name":"Conserved sequence","score":0.6313508152961731},{"id":"https://openalex.org/keywords/disease","display_name":"Disease","score":0.6215927004814148},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.6088725328445435},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.5760345458984375},{"id":"https://openalex.org/keywords/nod2","display_name":"NOD2","score":0.5602864623069763},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.5496403574943542},{"id":"https://openalex.org/keywords/sequence-alignment","display_name":"Sequence alignment","score":0.44198980927467346},{"id":"https://openalex.org/keywords/peptide-sequence","display_name":"Peptide sequence","score":0.29479336738586426},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.22457897663116455},{"id":"https://openalex.org/keywords/medicine","display_name":"Medicine","score":0.16580814123153687},{"id":"https://openalex.org/keywords/internal-medicine","display_name":"Internal medicine","score":0.08833739161491394}],"concepts":[{"id":"https://openalex.org/C2778112365","wikidata":"https://www.wikidata.org/wiki/Q3511065","display_name":"Sequence (biology)","level":2,"score":0.740842342376709},{"id":"https://openalex.org/C199216141","wikidata":"https://www.wikidata.org/wiki/Q4995178","display_name":"Conserved sequence","level":4,"score":0.6313508152961731},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.6215927004814148},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6088725328445435},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5760345458984375},{"id":"https://openalex.org/C7573103","wikidata":"https://www.wikidata.org/wiki/Q416481","display_name":"NOD2","level":4,"score":0.5602864623069763},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5496403574943542},{"id":"https://openalex.org/C45484198","wikidata":"https://www.wikidata.org/wiki/Q827246","display_name":"Sequence alignment","level":4,"score":0.44198980927467346},{"id":"https://openalex.org/C167625842","wikidata":"https://www.wikidata.org/wiki/Q899763","display_name":"Peptide sequence","level":3,"score":0.29479336738586426},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.22457897663116455},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.16580814123153687},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.08833739161491394},{"id":"https://openalex.org/C136449434","wikidata":"https://www.wikidata.org/wiki/Q428253","display_name":"Innate immune system","level":3,"score":0.0},{"id":"https://openalex.org/C8891405","wikidata":"https://www.wikidata.org/wiki/Q1059","display_name":"Immune system","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000071199","descriptor_name":"NLR Family, Pyrin Domain-Containing 3 Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000071199","descriptor_name":"NLR Family, Pyrin Domain-Containing 3 Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000071199","descriptor_name":"NLR Family, Pyrin Domain-Containing 3 Protein","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":"D000818","descriptor_name":"Animals","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":"D001327","descriptor_name":"Autoimmune Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001327","descriptor_name":"Autoimmune Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001327","descriptor_name":"Autoimmune Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002352","descriptor_name":"Carrier Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002352","descriptor_name":"Carrier Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002352","descriptor_name":"Carrier Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002352","descriptor_name":"Carrier Proteins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D002352","descriptor_name":"Carrier Proteins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D002352","descriptor_name":"Carrier Proteins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D002417","descriptor_name":"Cattle","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002417","descriptor_name":"Cattle","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002417","descriptor_name":"Cattle","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005819","descriptor_name":"Genetic Markers","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005819","descriptor_name":"Genetic Markers","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005819","descriptor_name":"Genetic Markers","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":"D006801","descriptor_name":"Humans","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":"D007249","descriptor_name":"Inflammation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D007249","descriptor_name":"Inflammation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D007249","descriptor_name":"Inflammation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D013045","descriptor_name":"Species Specificity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013045","descriptor_name":"Species Specificity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013045","descriptor_name":"Species Specificity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013329","descriptor_name":"Structure-Activity Relationship","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013329","descriptor_name":"Structure-Activity Relationship","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013329","descriptor_name":"Structure-Activity Relationship","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016415","descriptor_name":"Sequence Alignment","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D016415","descriptor_name":"Sequence Alignment","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D016415","descriptor_name":"Sequence Alignment","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D017124","descriptor_name":"Conserved Sequence","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017124","descriptor_name":"Conserved Sequence","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017124","descriptor_name":"Conserved Sequence","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020539","descriptor_name":"Sequence Analysis, Protein","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D020539","descriptor_name":"Sequence Analysis, Protein","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D020539","descriptor_name":"Sequence Analysis, Protein","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D020869","descriptor_name":"Gene Expression Profiling","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D020869","descriptor_name":"Gene Expression Profiling","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D020869","descriptor_name":"Gene Expression Profiling","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D047908","descriptor_name":"Intracellular Signaling Peptides and Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D047908","descriptor_name":"Intracellular Signaling Peptides and Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D047908","descriptor_name":"Intracellular Signaling Peptides and Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D053473","descriptor_name":"Nod2 Signaling Adaptor Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D053473","descriptor_name":"Nod2 Signaling Adaptor Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D053473","descriptor_name":"Nod2 Signaling Adaptor Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1093/bioinformatics/btg370","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btg370","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/19/17/2171/48904662/bioinformatics_19_17_2171.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":false,"is_in_doaj":true,"is_core":true,"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":"Bioinformatics","raw_type":"journal-article"},{"id":"pmid:14630645","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/14630645","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,"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":"Bioinformatics (Oxford, England)","raw_type":null},{"id":"pmh:oai:edoc.mpg.de:201895","is_oa":false,"landing_page_url":"http://edoc.mpg.de/201895","pdf_url":null,"source":{"id":"https://openalex.org/S4406922265","display_name":"Max Planck Institute for Plasma Physics","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Bioinformatics, v.19, 2171-2175 (2003)","raw_type":"Article"},{"id":"pmh:oai:pure.mpg.de:item_1330030","is_oa":false,"landing_page_url":"http://hdl.handle.net/11858/00-001M-0000-000F-2CBA-0","pdf_url":null,"source":{"id":"https://openalex.org/S4306400654","display_name":"MPG.PuRe (Max Planck Society)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I149899117","host_organization_name":"Max Planck Society","host_organization_lineage":["https://openalex.org/I149899117"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Bioinformatics","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.1093/bioinformatics/btg370","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btg370","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/19/17/2171/48904662/bioinformatics_19_17_2171.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":false,"is_in_doaj":true,"is_core":true,"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":"Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.6200000047683716,"id":"https://metadata.un.org/sdg/3"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320320879","display_name":"Deutsche Forschungsgemeinschaft","ror":"https://ror.org/018mejw64"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2101991699.pdf","grobid_xml":"https://content.openalex.org/works/W2101991699.grobid-xml"},"referenced_works_count":26,"referenced_works":["https://openalex.org/W186478785","https://openalex.org/W1524848610","https://openalex.org/W1525759724","https://openalex.org/W1542410645","https://openalex.org/W1585737615","https://openalex.org/W1642457845","https://openalex.org/W1670573097","https://openalex.org/W1972745528","https://openalex.org/W1978335738","https://openalex.org/W1985629904","https://openalex.org/W2003144438","https://openalex.org/W2008708467","https://openalex.org/W2010958487","https://openalex.org/W2052284400","https://openalex.org/W2055987716","https://openalex.org/W2064027072","https://openalex.org/W2071950147","https://openalex.org/W2082062343","https://openalex.org/W2093524746","https://openalex.org/W2106882534","https://openalex.org/W2130479394","https://openalex.org/W2142529984","https://openalex.org/W2146527682","https://openalex.org/W2152532561","https://openalex.org/W2164013854","https://openalex.org/W2164450207"],"related_works":["https://openalex.org/W2181549235","https://openalex.org/W1973727281","https://openalex.org/W1996543580","https://openalex.org/W2046212479","https://openalex.org/W3209520725","https://openalex.org/W2003319012","https://openalex.org/W2031006065","https://openalex.org/W2044507120","https://openalex.org/W2514476306","https://openalex.org/W2023479323"],"abstract_inverted_index":{"Sequence":[0],"variations":[1],"in":[2,41,62,91],"the":[3,36,46,56,69],"gene":[4,78],"products":[5],"PYPAF1/CIAS1":[6],"and":[7,49,64],"NOD2/CARD15":[8],"have":[9],"been":[10],"associated":[11],"with":[12],"several":[13],"autoinflammatory":[14],"diseases":[15],"that,":[16],"although":[17],"clinically":[18],"different,":[19],"share":[20],"a":[21,92],"similar":[22,93],"inflammatory":[23],"pathophysiology.":[24],"A":[25],"multiple":[26],"sequence":[27,90],"alignment":[28,71],"of":[29,35,45,55],"homologous":[30],"proteins":[31],"demonstrates":[32],"that":[33,76],"some":[34],"missense":[37],"variants":[38,87],"are":[39],"located":[40,67],"highly":[42],"conserved":[43,89],"regions":[44],"NTPase":[47],"domain":[48],"possibly":[50],"impair":[51],"NTP-hydrolysis.":[52],"Intriguingly,":[53],"one":[54],"variations,":[57],"which":[58],"is":[59,66],"found":[60],"identically":[61],"PYPAF1":[63],"NOD2,":[65],"at":[68],"same":[70],"position.":[72],"Our":[73],"findings":[74],"suggest":[75],"evolutionary":[77],"duplication":[79],"can":[80],"give":[81],"rise":[82],"to":[83],"disease":[84],"families":[85],"because":[86],"affect":[88],"fashion.":[94]},"counts_by_year":[{"year":2017,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":2}],"updated_date":"2026-04-04T16:13:02.066488","created_date":"2025-10-10T00:00:00"}