{"id":"https://openalex.org/W2018556148","doi":"https://doi.org/10.1002/(sici)1096-8628(19960726)67:4<401::aid-ajmg14>3.0.co;2-n","title":"Missense mutation of the cholecystokinin B receptor gene: Lack of association with panic disorder","display_name":"Missense mutation of the cholecystokinin B receptor gene: Lack of association with panic disorder","publication_year":1996,"publication_date":"1996-07-26","ids":{"openalex":"https://openalex.org/W2018556148","doi":"https://doi.org/10.1002/(sici)1096-8628(19960726)67:4<401::aid-ajmg14>3.0.co;2-n","mag":"2018556148","pmid":"https://pubmed.ncbi.nlm.nih.gov/8837709"},"language":"en","primary_location":{"id":"doi:10.1002/(sici)1096-8628(19960726)67:4<401::aid-ajmg14>3.0.co;2-n","doi":"https://doi.org/10.1002/(sici)1096-8628(19960726)67:4<401::aid-ajmg14>3.0.co;2-n","is_oa":false,"landing_page_url":"https://doi.org/10.1002/(sici)1096-8628(19960726)67:4<401::aid-ajmg14>3.0.co;2-n","pdf_url":null,"source":{"id":"https://openalex.org/S4210224978","display_name":"American Journal of Medical Genetics","issn_l":"0148-7299","issn":["0148-7299","1096-8628"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","norway-1"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","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/A5100631067","display_name":"Tadafumi Kato","orcid":"https://orcid.org/0000-0001-7856-3952","observed_orcids":["https://orcid.org/0000-0001-7856-3952"]},"institutions":[{"id":"https://openalex.org/I126307644","display_name":"University of Iowa","ror":"https://ror.org/036jqmy94","country_code":"US","type":"education","lineage":["https://openalex.org/I126307644"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Tadafumi Kato","raw_affiliation_strings":["Department of Psychiatry, University of Iowa College of Medicine, Iowa City 52242-1000, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Psychiatry, University of Iowa College of Medicine, Iowa City 52242-1000, USA","institution_ids":["https://openalex.org/I126307644"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037657021","display_name":"Zhe Wu Wang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I126307644","display_name":"University of Iowa","ror":"https://ror.org/036jqmy94","country_code":"US","type":"education","lineage":["https://openalex.org/I126307644"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Zhe Wu Wang","raw_affiliation_strings":["Department of Psychiatry, University of Iowa College of Medicine, Iowa City, Iowa"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Psychiatry, University of Iowa College of Medicine, Iowa City, Iowa","institution_ids":["https://openalex.org/I126307644"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111616683","display_name":"T\u00f3mas Zo\u00ebga","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210106610","display_name":"National University Hospital of Iceland","ror":"https://ror.org/011k7k191","country_code":"IS","type":"funder","lineage":["https://openalex.org/I4210106610"]}],"countries":["IS"],"is_corresponding":false,"raw_author_name":"Tomas Zoega","raw_affiliation_strings":["National University Hospital, Reykjavik, Iceland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National University Hospital, Reykjavik, Iceland","institution_ids":["https://openalex.org/I4210106610"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5112826621","display_name":"Raymond Crowe","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I126307644","display_name":"University of Iowa","ror":"https://ror.org/036jqmy94","country_code":"US","type":"education","lineage":["https://openalex.org/I126307644"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Raymond R. Crowe","raw_affiliation_strings":["Department of Psychiatry, University of Iowa College of Medicine, Iowa City, Iowa"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Psychiatry, University of Iowa College of Medicine, Iowa City, Iowa","institution_ids":["https://openalex.org/I126307644"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5112826621"],"corresponding_institution_ids":["https://openalex.org/I126307644"],"apc_list":null,"apc_paid":null,"fwci":6.5154,"has_fulltext":false,"cited_by_count":41,"citation_normalized_percentile":{"value":0.95957011,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":96},"biblio":{"volume":"67","issue":"4","first_page":"401","last_page":"405"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10853","display_name":"Anxiety, Depression, Psychometrics, Treatment, Cognitive Processes","score":0.6685000061988831,"subfield":{"id":"https://openalex.org/subfields/3205","display_name":"Experimental and Cognitive Psychology"},"field":{"id":"https://openalex.org/fields/32","display_name":"Psychology"},"domain":{"id":"https://openalex.org/domains/2","display_name":"Social Sciences"}},"topics":[{"id":"https://openalex.org/T10853","display_name":"Anxiety, Depression, Psychometrics, Treatment, Cognitive Processes","score":0.6685000061988831,"subfield":{"id":"https://openalex.org/subfields/3205","display_name":"Experimental and Cognitive Psychology"},"field":{"id":"https://openalex.org/fields/32","display_name":"Psychology"},"domain":{"id":"https://openalex.org/domains/2","display_name":"Social Sciences"}},{"id":"https://openalex.org/T10814","display_name":"Neuropeptides and Animal Physiology","score":0.10100000351667404,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10056","display_name":"Neurotransmitter Receptor Influence on Behavior","score":0.06530000269412994,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/cholecystokinin-b-receptor","display_name":"cholecystokinin B receptor","score":0.9369999766349792},{"id":"https://openalex.org/keywords/panic-disorder","display_name":"panic disorder","score":0.9440000057220459},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.9829999804496765},{"id":"https://openalex.org/keywords/intronic-polymorphism","display_name":"intronic polymorphism","score":0.6150000095367432},{"id":"https://openalex.org/keywords/candidate-genes","display_name":"candidate genes","score":0.734000027179718},{"id":"https://openalex.org/keywords/genetic-association","display_name":"genetic association","score":0.8500000238418579},{"id":"https://openalex.org/keywords/extracellular-loop","display_name":"extracellular loop","score":0.6200000047683716},{"id":"https://openalex.org/keywords/familial-segregation","display_name":"family segregation","score":0.40700000524520874}],"concepts":[{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.791226863861084},{"id":"https://openalex.org/C2777529043","wikidata":"https://www.wikidata.org/wiki/Q741713","display_name":"Panic disorder","level":3,"score":0.7874224185943604},{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.6897582411766052},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.6032198667526245},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5598118305206299},{"id":"https://openalex.org/C2780712732","wikidata":"https://www.wikidata.org/wiki/Q208450","display_name":"Panic","level":3,"score":0.5524383187294006},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4778135120868683},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.43494242429733276},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.25474244356155396},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.24760133028030396},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.18745407462120056},{"id":"https://openalex.org/C558461103","wikidata":"https://www.wikidata.org/wiki/Q154430","display_name":"Anxiety","level":2,"score":0.08558204770088196}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","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":"D005091","descriptor_name":"Exons","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005190","descriptor_name":"Family","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011949","descriptor_name":"Receptors, Cholecystokinin","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D012016","descriptor_name":"Reference Values","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013758","descriptor_name":"Tetragastrin","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":"D016584","descriptor_name":"Panic Disorder","qualifier_ui":"Q000139","qualifier_name":"chemically induced","is_major_topic":false},{"descriptor_ui":"D016584","descriptor_name":"Panic Disorder","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017931","descriptor_name":"DNA Primers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018807","descriptor_name":"Polymorphism, Single-Stranded Conformational","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D043887","descriptor_name":"Receptor, Cholecystokinin B","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1002/(sici)1096-8628(19960726)67:4<401::aid-ajmg14>3.0.co;2-n","doi":"https://doi.org/10.1002/(sici)1096-8628(19960726)67:4<401::aid-ajmg14>3.0.co;2-n","is_oa":false,"landing_page_url":"https://doi.org/10.1002/(sici)1096-8628(19960726)67:4<401::aid-ajmg14>3.0.co;2-n","pdf_url":null,"source":{"id":"https://openalex.org/S4210224978","display_name":"American Journal of Medical Genetics","issn_l":"0148-7299","issn":["0148-7299","1096-8628"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","norway-1"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics","raw_type":"journal-article"},{"id":"pmid:8837709","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8837709","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":"American journal of medical genetics","raw_type":"Comparative Study"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.98580002784729}],"sustainable_development_goals_aurora":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.75}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G16160824","display_name":null,"funder_award_id":"MH 00735","funder_id":"https://openalex.org/F4320337346","funder_display_name":"National Institute of Mental Health"},{"id":"https://openalex.org/G2129954753","display_name":null,"funder_award_id":"MH34728","funder_id":"https://openalex.org/F4320337346","funder_display_name":"National Institute of Mental Health"},{"id":"https://openalex.org/G4763687321","display_name":"LINKAGE STUDY OF PANIC DISORDER","funder_award_id":"R01MH034728","funder_id":"https://openalex.org/F4320337346","funder_display_name":"National Institute of Mental Health"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337346","display_name":"National Institute of Mental Health","ror":"https://ror.org/04xeg9z08"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":20,"referenced_works":["https://openalex.org/W196104318","https://openalex.org/W207069409","https://openalex.org/W568490075","https://openalex.org/W1494899399","https://openalex.org/W1497506244","https://openalex.org/W1792501514","https://openalex.org/W1974670959","https://openalex.org/W1984967391","https://openalex.org/W1996027687","https://openalex.org/W2016736211","https://openalex.org/W2019683883","https://openalex.org/W2024476894","https://openalex.org/W2042061501","https://openalex.org/W2091964121","https://openalex.org/W2126681559","https://openalex.org/W2139767135","https://openalex.org/W2337852520","https://openalex.org/W2468365491","https://openalex.org/W3149340324","https://openalex.org/W4210957923"],"related_works":["https://openalex.org/W2029086268","https://openalex.org/W2892548237","https://openalex.org/W2025937889","https://openalex.org/W1973353873","https://openalex.org/W2000187419","https://openalex.org/W64527425","https://openalex.org/W2025366741","https://openalex.org/W2045386912","https://openalex.org/W2085753045","https://openalex.org/W2093343280"],"abstract_inverted_index":{"Cholecystokinin":[0],"tetrapeptide":[1],"(CCK4)":[2],"is":[3,29],"known":[4],"to":[5],"induce":[6],"panic":[7,12,34,48,110,126,140,160],"attacks":[8],"in":[9,19,40,44,63,75,83,95,104,123,131,142,159],"patients":[10,108,124],"with":[11,109,125,139],"disorder":[13,49,111,127,141],"at":[14],"a":[15,30],"lower":[16],"dose":[17],"than":[18],"normal":[20],"controls.":[21,114],"Therefore,":[22],"the":[23,41,84],"cholecystokinin":[24],"B":[25],"(CCKB)":[26],"receptor":[27],"gene":[28,32,43],"candidate":[31],"for":[33,38],"disorder.":[35,161],"We":[36],"searched":[37],"mutations":[39],"CCKB":[42],"22":[45,78],"probands":[46],"of":[47,77,87,118,156],"pedigrees,":[50],"using":[51],"single-strand":[52],"conformation":[53],"polymorphism":[54,62],"(SSCP)":[55],"analysis.":[56],"Two":[57],"polymorphisms":[58],"were":[59],"detected.":[60],"A":[61,80],"an":[64],"intron":[65],"(2491":[66],"C-->A)":[67],"between":[68],"exons":[69],"4":[70],"and":[71,112,129],"5":[72],"was":[73,93,101,121],"observed":[74],"10":[76],"probands.":[79],"missense":[81],"mutation":[82,100,120,135,158],"extracellular":[85],"loop":[86],"exon":[88],"2":[89],"(1550":[90],"G-->A,":[91],"Val125-->Ile)":[92],"found":[94],"only":[96],"one":[97],"proband.":[98],"This":[99],"also":[102],"examined":[103],"additional":[105],"34":[106],"unrelated":[107],"112":[113],"The":[115,134],"prevalence":[116],"rate":[117],"this":[119,146,157],"8.8%":[122],"(3/34)":[128],"4.4%":[130],"controls":[132],"(5/112).":[133],"did":[136],"not":[137],"segregate":[138],"two":[143],"families":[144],"where":[145],"could":[147],"be":[148],"tested.":[149],"These":[150],"results":[151],"suggest":[152],"no":[153],"pathophysiological":[154],"significance":[155]},"counts_by_year":[{"year":2022,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2018,"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":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
