{"id":"https://openalex.org/W2397947268","doi":null,"title":"Molecular defects in hereditary angioneurotic edema.","display_name":"Molecular defects in hereditary angioneurotic edema.","publication_year":1997,"publication_date":"1997-03-01","ids":{"openalex":"https://openalex.org/W2397947268","mag":"2397947268","pmid":"https://pubmed.ncbi.nlm.nih.gov/9069585"},"language":"en","primary_location":{"id":"pmid:9069585","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9069585","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":"Proceedings of the Association of American Physicians","raw_type":"Journal Article"},"volume":null,"type":"article","indexed_in":["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/A5016958141","display_name":"John J. Bissler","orcid":"https://orcid.org/0000-0001-9685-9183","observed_orcids":["https://orcid.org/0000-0001-9685-9183"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J J Bissler","raw_affiliation_strings":["Children's Hospital Research Foundation, Cincinnati, OH 45229-3039, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital Research Foundation, Cincinnati, OH 45229-3039, USA","institution_ids":[]}]},{"author_position":"middle","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":[],"countries":[],"is_corresponding":false,"raw_author_name":"K S Aulak","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111533357","display_name":"V H Donaldson","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"V H Donaldson","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"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":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073049397","display_name":"Marco Cicardi","orcid":"https://orcid.org/0000-0003-1251-225X","observed_orcids":["https://orcid.org/0000-0003-1251-225X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M Cicardi","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","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":[],"countries":[],"is_corresponding":false,"raw_author_name":"R A Harrison","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5017017765","display_name":"Alvin E. Davis","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A E Davis","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":1.963,"has_fulltext":false,"cited_by_count":62,"citation_normalized_percentile":{"value":0.85545224,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"109","issue":"2","first_page":"164","last_page":"73"},"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/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"}},{"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"}}],"keywords":[{"id":"https://openalex.org/keywords/hereditary-angioedema","display_name":"hereditary angioedema","score":0.9620000123977661},{"id":"https://openalex.org/keywords/c1-inhibitor","display_name":"C1 inhibitor","score":0.9860000014305115},{"id":"https://openalex.org/keywords/serine-protease-inhibitors","display_name":"serine protease inhibitors","score":0.8489999771118164},{"id":"https://openalex.org/keywords/reactive-center-loop","display_name":"reactive center loop","score":0.9520000219345093},{"id":"https://openalex.org/keywords/protein-structure","display_name":"protein structure","score":0.5370000004768372},{"id":"https://openalex.org/keywords/conserved-residues","display_name":"conserved residues","score":0.8709999918937683},{"id":"https://openalex.org/keywords/molecular-function","display_name":"molecular function","score":0.4269999861717224},{"id":"https://openalex.org/keywords/crystal-structure","display_name":"crystal structure","score":0.5410000085830688}],"concepts":[{"id":"https://openalex.org/C2777807008","wikidata":"https://www.wikidata.org/wiki/Q87324999","display_name":"Serine protease","level":4,"score":0.6696832180023193},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.6344977617263794},{"id":"https://openalex.org/C2776414213","wikidata":"https://www.wikidata.org/wiki/Q183290","display_name":"Serine","level":3,"score":0.5899043679237366},{"id":"https://openalex.org/C2781143361","wikidata":"https://www.wikidata.org/wiki/Q55761529","display_name":"Protease inhibitor (pharmacology)","level":5,"score":0.5314452052116394},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.45184752345085144},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4501769244670868},{"id":"https://openalex.org/C2776714187","wikidata":"https://www.wikidata.org/wiki/Q212410","display_name":"Protease","level":3,"score":0.44633445143699646},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.4450244903564453},{"id":"https://openalex.org/C182220744","wikidata":"https://www.wikidata.org/wiki/Q7251226","display_name":"Proteases","level":3,"score":0.43458735942840576},{"id":"https://openalex.org/C2780886150","wikidata":"https://www.wikidata.org/wiki/Q152234","display_name":"Edema","level":2,"score":0.4341384172439575},{"id":"https://openalex.org/C2777788586","wikidata":"https://www.wikidata.org/wiki/Q2096745","display_name":"Hereditary angioedema","level":2,"score":0.4239104986190796},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.3581772446632385},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3417734205722809},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.3172500431537628},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.26712411642074585},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.2182377576828003},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.2182331681251526},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.12426573038101196},{"id":"https://openalex.org/C142462285","wikidata":"https://www.wikidata.org/wiki/Q2528140","display_name":"Viral load","level":3,"score":0.0},{"id":"https://openalex.org/C2993143319","wikidata":"https://www.wikidata.org/wiki/Q583050","display_name":"Antiretroviral therapy","level":4,"score":0.0},{"id":"https://openalex.org/C2522874641","wikidata":"https://www.wikidata.org/wiki/Q808","display_name":"Virus","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000799","descriptor_name":"Angioedema","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001665","descriptor_name":"Binding Sites","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003174","descriptor_name":"Complement C1 Inactivator Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D003174","descriptor_name":"Complement C1 Inactivator Proteins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","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":"D007438","descriptor_name":"Introns","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008958","descriptor_name":"Models, Molecular","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":"D011487","descriptor_name":"Protein Conformation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015394","descriptor_name":"Molecular Structure","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017433","descriptor_name":"Protein Structure, Secondary","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017931","descriptor_name":"DNA Primers","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D018807","descriptor_name":"Polymorphism, Single-Stranded Conformational","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:9069585","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9069585","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":"Proceedings of the Association of American Physicians","raw_type":"Journal Article"},{"id":"mag:2397947268","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9069585","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.6240000128746033}],"sustainable_development_goals_aurora":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.41999998688697815}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W180818808","https://openalex.org/W192649457","https://openalex.org/W2055963173","https://openalex.org/W1522956225","https://openalex.org/W2084205741","https://openalex.org/W2034583398","https://openalex.org/W1996995059","https://openalex.org/W2416536965","https://openalex.org/W1973820963","https://openalex.org/W2399998500"],"abstract_inverted_index":{"Thirty-eight":[0],"previously":[1],"unreported,":[2],"unrelated":[3],"patients":[4],"with":[5,86],"hereditary":[6],"angioneurotic":[7],"edema":[8],"were":[9],"studied,":[10],"and":[11,35,51,53,56,79],"each":[12],"was":[13],"found":[14],"to":[15,84,92],"have":[16],"a":[17],"single":[18],"mutation":[19],"in":[20,41,63],"the":[21,26,42,64,80,100],"C1":[22,101],"inhibitor":[23,31,102],"gene.":[24],"On":[25],"basis":[27],"of":[28,99],"serine":[29,76],"protease":[30,77],"crystal":[32],"structure,":[33],"these":[34],"published":[36],"mutations":[37,90],"affect":[38],"critical":[39,95],"domains":[40],"reactive":[43,65],"center":[44,66],"loop,":[45,67],"alpha-helices":[46],"A,":[47],"B,":[48],"C,":[49],"E,":[50],"F,":[52],"beta-sheets":[54],"A":[55],"C.":[57],"Almost":[58],"all":[59],"mutations,":[60],"other":[61],"than":[62],"occur":[68],"at":[69],"residues":[70,94],"that":[71],"are":[72,82],"highly":[73],"conserved":[74],"among":[75],"inhibitors,":[78],"others":[81],"likely":[83],"interfere":[85],"molecular":[87,97],"movement.":[88],"These":[89],"begin":[91],"identify":[93],"for":[96],"function":[98],"molecule.":[103]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":2},{"year":2013,"cited_by_count":3}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
