{"id":"https://openalex.org/W2583861688","doi":"https://doi.org/10.1016/j.bpj.2016.11.2950","title":"A De Novo Loss-of-Function Mutation in KCNJ6 Associated with Idiopathic Ventricular Tachycardia","display_name":"A De Novo Loss-of-Function Mutation in KCNJ6 Associated with Idiopathic Ventricular Tachycardia","publication_year":2017,"publication_date":"2017-02-01","ids":{"openalex":"https://openalex.org/W2583861688","doi":"https://doi.org/10.1016/j.bpj.2016.11.2950","mag":"2583861688"},"language":"en","primary_location":{"id":"doi:10.1016/j.bpj.2016.11.2950","doi":"https://doi.org/10.1016/j.bpj.2016.11.2950","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.bpj.2016.11.2950","pdf_url":"http://www.cell.com/article/S0006349516339807/pdf","source":{"id":"https://openalex.org/S98085912","display_name":"Biophysical Journal","issn_l":"0006-3495","issn":["0006-3495","1542-0086"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Biophysical Journal","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"http://www.cell.com/article/S0006349516339807/pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"Franck Potet","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I111979921","display_name":"Northwestern University","ror":"https://ror.org/000e0be47","country_code":"US","type":"education","lineage":["https://openalex.org/I111979921"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Franck Potet","raw_affiliation_strings":["Department of Pharmacology, Northwestern University, Chicago, IL, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pharmacology, Northwestern University, Chicago, IL, USA","institution_ids":["https://openalex.org/I111979921"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004712955","display_name":"Ruth McGowan","orcid":"https://orcid.org/0000-0002-2188-2239","observed_orcids":["https://orcid.org/0000-0002-2188-2239"]},"institutions":[{"id":"https://openalex.org/I4210158502","display_name":"Queen Elizabeth University Hospital","ror":"https://ror.org/04y0x0x35","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800201399","https://openalex.org/I4210158502"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Ruth McGowan","raw_affiliation_strings":["Department of Clinical Genetics, Laboratories Building, Queen Elizabeth University Hospital, Glasgow, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Genetics, Laboratories Building, Queen Elizabeth University Hospital, Glasgow, United Kingdom","institution_ids":["https://openalex.org/I4210158502"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056328033","display_name":"KAREN A. McLEOD","orcid":"https://orcid.org/0000-0001-6202-8509","observed_orcids":["https://orcid.org/0000-0001-6202-8509"]},"institutions":[{"id":"https://openalex.org/I2800398797","display_name":"Royal Hospital for Children","ror":"https://ror.org/01cb0kd74","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800201399","https://openalex.org/I2800398797"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Karen McLeod","raw_affiliation_strings":["Department of Cardiology, The Royal Hospital for Sick Children, Glasgow, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cardiology, The Royal Hospital for Sick Children, Glasgow, United Kingdom","institution_ids":["https://openalex.org/I2800398797"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5013560175","display_name":"Alfred L. George","orcid":"https://orcid.org/0000-0002-3993-966X","observed_orcids":["https://orcid.org/0000-0002-3993-966X"]},"institutions":[{"id":"https://openalex.org/I111979921","display_name":"Northwestern University","ror":"https://ror.org/000e0be47","country_code":"US","type":"education","lineage":["https://openalex.org/I111979921"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Alfred L. Jr George","raw_affiliation_strings":["Department of Pharmacology, Northwestern University, Chicago, IL, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pharmacology, Northwestern University, Chicago, IL, USA","institution_ids":["https://openalex.org/I111979921"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3000,"currency":"USD","value_usd":3000},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.01689033,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"112","issue":"3","first_page":"546a","last_page":"546a"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10217","display_name":"Cardiac electrophysiology and arrhythmias","score":0.9657999873161316,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"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/T10217","display_name":"Cardiac electrophysiology and arrhythmias","score":0.9657999873161316,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"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/T10493","display_name":"Ion channel regulation and function","score":0.03269999846816063,"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/T11217","display_name":"Cardiac Arrhythmias and Treatments","score":0.0005000000237487257,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/kcnj6","display_name":"KCNJ6","score":0.9279999732971191},{"id":"https://openalex.org/keywords/girk2","display_name":"GIRK2","score":0.9079999923706055},{"id":"https://openalex.org/keywords/idiopathic-ventricular-tachycardia","display_name":"idiopathic ventricular tachycardia","score":0.8519999980926514},{"id":"https://openalex.org/keywords/de-novo-mutations","display_name":"de novo mutations","score":0.8870000243186951},{"id":"https://openalex.org/keywords/loss-of-function-variants","display_name":"loss-of-function mutations","score":0.921999990940094},{"id":"https://openalex.org/keywords/dominant-negative","display_name":"dominant negative effect","score":0.9070000052452087},{"id":"https://openalex.org/keywords/inwardly-rectifying-potassium-channels","display_name":"inwardly rectifying potassium channels","score":0.8399999737739563},{"id":"https://openalex.org/keywords/autonomic-nervous-system","display_name":"autonomic nervous system","score":0.7839999794960022},{"id":"https://openalex.org/keywords/serotonin-receptors","display_name":"serotonin receptors","score":0.5609999895095825},{"id":"https://openalex.org/keywords/pediatric-cardiac-arrhythmias","display_name":"pediatric arrhythmia","score":0.5339999794960022}],"concepts":[{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5468518137931824},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.5012810230255127},{"id":"https://openalex.org/C2776331378","wikidata":"https://www.wikidata.org/wiki/Q56002","display_name":"Ventricular tachycardia","level":2,"score":0.47166407108306885},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.463817298412323},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.44109925627708435},{"id":"https://openalex.org/C83743174","wikidata":"https://www.wikidata.org/wiki/Q423778","display_name":"Potassium channel","level":2,"score":0.43938884139060974},{"id":"https://openalex.org/C2780283014","wikidata":"https://www.wikidata.org/wiki/Q209583","display_name":"Tachycardia","level":2,"score":0.4332209825515747},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.4328632056713104},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3674296736717224},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.3536871671676636},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2986295819282532},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.2761457860469818},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.26557812094688416}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/j.bpj.2016.11.2950","doi":"https://doi.org/10.1016/j.bpj.2016.11.2950","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.bpj.2016.11.2950","pdf_url":"http://www.cell.com/article/S0006349516339807/pdf","source":{"id":"https://openalex.org/S98085912","display_name":"Biophysical Journal","issn_l":"0006-3495","issn":["0006-3495","1542-0086"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Biophysical Journal","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.1016/j.bpj.2016.11.2950","doi":"https://doi.org/10.1016/j.bpj.2016.11.2950","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.bpj.2016.11.2950","pdf_url":"http://www.cell.com/article/S0006349516339807/pdf","source":{"id":"https://openalex.org/S98085912","display_name":"Biophysical Journal","issn_l":"0006-3495","issn":["0006-3495","1542-0086"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Biophysical Journal","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.98580002784729,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":false},"content_urls":{"pdf":"https://content.openalex.org/works/W2583861688.pdf"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2086302584","https://openalex.org/W2069699972","https://openalex.org/W2160941824","https://openalex.org/W3047154471","https://openalex.org/W2032927431","https://openalex.org/W2910633817","https://openalex.org/W2088174097","https://openalex.org/W7164900011","https://openalex.org/W2805948500","https://openalex.org/W2368078234"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-09-29T14:09:16.559479","created_date":"2017-02-10T00:00:00"}