{"id":"https://openalex.org/W1952408005","doi":"https://doi.org/10.1042/bj2530615","title":"Dysfunctional C1-inhibitor(At), isolated from a type II hereditary-angio-oedema plasma, contains a P1 \u2018reactive centre\u2019 (Arg444\u2192His) mutation","display_name":"Dysfunctional C1-inhibitor(At), isolated from a type II hereditary-angio-oedema plasma, contains a P1 \u2018reactive centre\u2019 (Arg444\u2192His) mutation","publication_year":1988,"publication_date":"1988-07-15","ids":{"openalex":"https://openalex.org/W1952408005","doi":"https://doi.org/10.1042/bj2530615","mag":"1952408005","pmid":"https://pubmed.ncbi.nlm.nih.gov/3178731","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/1149343"},"language":"en","primary_location":{"id":"doi:10.1042/bj2530615","doi":"https://doi.org/10.1042/bj2530615","is_oa":true,"landing_page_url":"https://doi.org/10.1042/bj2530615","pdf_url":"https://portlandpress.com/biochemj/article-pdf/253/2/615/594141/bj2530615.pdf","source":{"id":"https://openalex.org/S44425019","display_name":"Biochemical Journal","issn_l":"0264-6021","issn":["0264-6021","1470-8728"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310311608","host_organization_name":"Portland Press","host_organization_lineage":["https://openalex.org/P4310311608","https://openalex.org/P4310311715"],"host_organization_lineage_names":["Portland Press","Biochemical Society"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Biochemical Journal","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://portlandpress.com/biochemj/article-pdf/253/2/615/594141/bj2530615.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5110756018","display_name":"Kulwant S. Aulak","orcid":"https://orcid.org/0000-0003-2169-7727","observed_orcids":["https://orcid.org/0000-0003-2169-7727"]},"institutions":[{"id":"https://openalex.org/I241749","display_name":"University of Cambridge","ror":"https://ror.org/013meh722","country_code":"GB","type":"education","lineage":["https://openalex.org/I241749"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"K S Aulak","raw_affiliation_strings":["MIP Unit, MRC Centre, Hills Road, Cambridge CB2 2QH, U.K.,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"MIP Unit, MRC Centre, Hills Road, Cambridge CB2 2QH, U.K.,","institution_ids":["https://openalex.org/I241749"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048854923","display_name":"Philip A. Pemberton","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I241749","display_name":"University of Cambridge","ror":"https://ror.org/013meh722","country_code":"GB","type":"education","lineage":["https://openalex.org/I241749"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"P A Pemberton","raw_affiliation_strings":["Department of Haematological Medicine, University Medical Schools, Hills Road, Cambridge CB2 2QH, U.K"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Haematological Medicine, University Medical Schools, Hills Road, Cambridge CB2 2QH, U.K","institution_ids":["https://openalex.org/I241749"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111433586","display_name":"Fred S. Rosen","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"F S Rosen","raw_affiliation_strings":["The Center for Blood Research, 800 Huntington Avenue, Boston, MA 02115, U.S.A"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Center for Blood Research, 800 Huntington Avenue, Boston, MA 02115, U.S.A","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005679926","display_name":"Robin W. Carrell","orcid":"https://orcid.org/0000-0001-6898-9319","observed_orcids":["https://orcid.org/0000-0001-6898-9319"]},"institutions":[{"id":"https://openalex.org/I241749","display_name":"University of Cambridge","ror":"https://ror.org/013meh722","country_code":"GB","type":"education","lineage":["https://openalex.org/I241749"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"R W Carrell","raw_affiliation_strings":["Department of Haematological Medicine, University Medical Schools, Hills Road, Cambridge CB2 2QH, U.K"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Haematological Medicine, University Medical Schools, Hills Road, Cambridge CB2 2QH, U.K","institution_ids":["https://openalex.org/I241749"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109933867","display_name":"Peter Julius Lachmann","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I241749","display_name":"University of Cambridge","ror":"https://ror.org/013meh722","country_code":"GB","type":"education","lineage":["https://openalex.org/I241749"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"P J Lachmann","raw_affiliation_strings":["MIP Unit, MRC Centre, Hills Road, Cambridge CB2 2QH, U.K.,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"MIP Unit, MRC Centre, Hills Road, Cambridge CB2 2QH, U.K.,","institution_ids":["https://openalex.org/I241749"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5047954289","display_name":"Richard A. Harrison","orcid":"https://orcid.org/0000-0002-2408-6043","observed_orcids":["https://orcid.org/0000-0002-2408-6043"]},"institutions":[{"id":"https://openalex.org/I241749","display_name":"University of Cambridge","ror":"https://ror.org/013meh722","country_code":"GB","type":"education","lineage":["https://openalex.org/I241749"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"R A Harrison","raw_affiliation_strings":["MIP Unit, MRC Centre, Hills Road, Cambridge CB2 2QH, U.K.,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"MIP Unit, MRC Centre, Hills Road, Cambridge CB2 2QH, U.K.,","institution_ids":["https://openalex.org/I241749"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":6.5179,"has_fulltext":true,"cited_by_count":63,"citation_normalized_percentile":{"value":0.96990218,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":94},"biblio":{"volume":"253","issue":"2","first_page":"615","last_page":"618"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11917","display_name":"Coagulation, Bradykinin, Polyphosphates, and Angioedema","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics"},"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/T11917","display_name":"Coagulation, Bradykinin, Polyphosphates, and Angioedema","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics"},"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/T10620","display_name":"Protease and Inhibitor Mechanisms","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"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/T10993","display_name":"Complement system in diseases","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/c1-inhibitor","display_name":"C1 inhibitor","score":0.8920000195503235},{"id":"https://openalex.org/keywords/hereditary-angioedema","display_name":"hereditary angioedema","score":0.8880000114440918},{"id":"https://openalex.org/keywords/reactive-center-loop","display_name":"reactive center loop","score":0.7229999899864197},{"id":"https://openalex.org/keywords/protein-mutations","display_name":"protein mutations","score":0.46799999475479126},{"id":"https://openalex.org/keywords/protein-structure","display_name":"protein structure","score":0.44699999690055847},{"id":"https://openalex.org/keywords/plasma-proteins","display_name":"plasma proteins","score":0.3370000123977661}],"concepts":[{"id":"https://openalex.org/C27502469","wikidata":"https://www.wikidata.org/wiki/Q906343","display_name":"Dysfunctional family","level":2,"score":0.5986919403076172},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5986566543579102},{"id":"https://openalex.org/C2779931649","wikidata":"https://www.wikidata.org/wiki/Q416510","display_name":"C1-inhibitor","level":3,"score":0.5805640816688538},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.39590325951576233},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.39525362849235535},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.359762966632843},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.35961294174194336},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.27817732095718384},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.22662228345870972},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.10054048895835876},{"id":"https://openalex.org/C2777995640","wikidata":"https://www.wikidata.org/wiki/Q1129007","display_name":"Angioedema","level":2,"score":0.0},{"id":"https://openalex.org/C70410870","wikidata":"https://www.wikidata.org/wiki/Q199906","display_name":"Clinical psychology","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000799","descriptor_name":"Angioedema","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":true},{"descriptor_ui":"D000799","descriptor_name":"Angioedema","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001665","descriptor_name":"Binding Sites","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002851","descriptor_name":"Chromatography, High Pressure Liquid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003174","descriptor_name":"Complement C1 Inactivator Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D004591","descriptor_name":"Electrophoresis, Polyacrylamide Gel","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006639","descriptor_name":"Histidine","qualifier_ui":"Q000032","qualifier_name":"analysis","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":false}],"locations_count":3,"locations":[{"id":"doi:10.1042/bj2530615","doi":"https://doi.org/10.1042/bj2530615","is_oa":true,"landing_page_url":"https://doi.org/10.1042/bj2530615","pdf_url":"https://portlandpress.com/biochemj/article-pdf/253/2/615/594141/bj2530615.pdf","source":{"id":"https://openalex.org/S44425019","display_name":"Biochemical Journal","issn_l":"0264-6021","issn":["0264-6021","1470-8728"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310311608","host_organization_name":"Portland Press","host_organization_lineage":["https://openalex.org/P4310311608","https://openalex.org/P4310311715"],"host_organization_lineage_names":["Portland Press","Biochemical Society"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Biochemical Journal","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:1149343","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/1149343","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"Biochem J","raw_type":"Text"},{"id":"pmid:3178731","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/3178731","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":"The Biochemical journal","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1042/bj2530615","doi":"https://doi.org/10.1042/bj2530615","is_oa":true,"landing_page_url":"https://doi.org/10.1042/bj2530615","pdf_url":"https://portlandpress.com/biochemj/article-pdf/253/2/615/594141/bj2530615.pdf","source":{"id":"https://openalex.org/S44425019","display_name":"Biochemical Journal","issn_l":"0264-6021","issn":["0264-6021","1470-8728"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310311608","host_organization_name":"Portland Press","host_organization_lineage":["https://openalex.org/P4310311608","https://openalex.org/P4310311715"],"host_organization_lineage_names":["Portland Press","Biochemical Society"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Biochemical Journal","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.8199999928474426,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320311904","display_name":"Wellcome Trust","ror":"https://ror.org/029chgv08"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W1952408005.pdf","grobid_xml":"https://content.openalex.org/works/W1952408005.grobid-xml"},"referenced_works_count":31,"referenced_works":["https://openalex.org/W247198690","https://openalex.org/W330357786","https://openalex.org/W348107195","https://openalex.org/W1497280552","https://openalex.org/W1516630913","https://openalex.org/W1522956225","https://openalex.org/W1541482973","https://openalex.org/W1701395031","https://openalex.org/W1968760032","https://openalex.org/W1985484598","https://openalex.org/W1988606065","https://openalex.org/W1994541394","https://openalex.org/W2013219189","https://openalex.org/W2014720148","https://openalex.org/W2018289835","https://openalex.org/W2032954616","https://openalex.org/W2035429559","https://openalex.org/W2043330027","https://openalex.org/W2067128089","https://openalex.org/W2084465075","https://openalex.org/W2092924717","https://openalex.org/W2093523386","https://openalex.org/W2100240173","https://openalex.org/W2100837269","https://openalex.org/W2138218584","https://openalex.org/W2143253900","https://openalex.org/W2158623312","https://openalex.org/W2168795864","https://openalex.org/W2317432276","https://openalex.org/W4211186185","https://openalex.org/W6634823717"],"related_works":["https://openalex.org/W1985150422","https://openalex.org/W1989416993","https://openalex.org/W2339559209","https://openalex.org/W2022756053","https://openalex.org/W180818808","https://openalex.org/W141671769","https://openalex.org/W2904001763","https://openalex.org/W2416536965","https://openalex.org/W261089091","https://openalex.org/W1973046576"],"abstract_inverted_index":{"Simple":[0],"rapid":[1],"procedures":[2],"for":[3,51],"identification":[4],"and":[5,20],"analysis":[6],"of":[7],"dysfunctional":[8],"C1-inhibitor":[9,26],"proteins":[10],"mutated":[11],"at":[12],"the":[13,48,54],"reactive-centre":[14],"P1":[15],"residue":[16],"have":[17],"been":[18],"developed":[19],"used":[21,50],"to":[22],"define":[23],"structurally":[24],"a":[25,43],"protein,":[27],"C1-inhibitor(At),":[28],"isolated":[29],"from":[30],"an":[31],"individual":[32],"with":[33,42],"hereditary":[34],"angio-oedema.":[35],"The":[36],"observed":[37],"mutation,":[38],"Arg444----His,":[39],"is":[40],"compatible":[41],"single":[44],"base":[45],"change":[46],"in":[47,53],"codon":[49],"Arg444":[52],"native":[55],"protein.":[56]},"counts_by_year":[{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}