{"id":"https://openalex.org/W2102018289","doi":"https://doi.org/10.1111/j.1540-8167.2007.00889.x","title":"A Novel Mutation in KCNQ1 Associated with a Potent Dominant Negative Effect as the Basis for the LQT1 Form of the Long QT Syndrome","display_name":"A Novel Mutation in KCNQ1 Associated with a Potent Dominant Negative Effect as the Basis for the LQT1 Form of the Long QT Syndrome","publication_year":2007,"publication_date":"2007-07-26","ids":{"openalex":"https://openalex.org/W2102018289","doi":"https://doi.org/10.1111/j.1540-8167.2007.00889.x","mag":"2102018289","pmid":"https://pubmed.ncbi.nlm.nih.gov/17655673","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/2085492"},"language":"en","primary_location":{"id":"doi:10.1111/j.1540-8167.2007.00889.x","doi":"https://doi.org/10.1111/j.1540-8167.2007.00889.x","is_oa":false,"landing_page_url":"https://doi.org/10.1111/j.1540-8167.2007.00889.x","pdf_url":null,"source":{"id":"https://openalex.org/S143832381","display_name":"Journal of Cardiovascular Electrophysiology","issn_l":"1045-3873","issn":["1045-3873","1540-8167"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"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":"Journal of Cardiovascular Electrophysiology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2085492","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5055227838","display_name":"Yoshiyasu Aizawa","orcid":"https://orcid.org/0000-0002-8323-4229","observed_orcids":["https://orcid.org/0000-0002-8323-4229","https://orcid.org/0000-0003-2850-7906"]},"institutions":[{"id":"https://openalex.org/I4210088652","display_name":"Masonic Medical Research Laboratory","ror":"https://ror.org/004rs4477","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210088652"]},{"id":"https://openalex.org/I71395657","display_name":"Niigata University","ror":"https://ror.org/04ww21r56","country_code":"JP","type":"education","lineage":["https://openalex.org/I71395657"]}],"countries":["JP","US"],"is_corresponding":false,"raw_author_name":"YOSHIYASU AIZAWA","raw_affiliation_strings":["Masonic Medical Research Laboratory, Utica, New York 13501-1787, USA","Masonic Medical Research Laboratory, Utica, New York, USA","Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Masonic Medical Research Laboratory, Utica, New York 13501-1787, USA","institution_ids":["https://openalex.org/I4210088652"]},{"raw_affiliation_string":"Masonic Medical Research Laboratory, Utica, New York, USA","institution_ids":["https://openalex.org/I4210088652"]},{"raw_affiliation_string":"Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan","institution_ids":["https://openalex.org/I71395657"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000656584","display_name":"Kazuo Ueda","orcid":"https://orcid.org/0000-0003-3369-2771","observed_orcids":["https://orcid.org/0000-0003-3369-2771"]},"institutions":[{"id":"https://openalex.org/I125602781","display_name":"Tokyo Medical and Dental University","ror":"https://ror.org/051k3eh31","country_code":"JP","type":"education","lineage":["https://openalex.org/I125602781","https://openalex.org/I4400009020"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"KAZUO UEDA","raw_affiliation_strings":["Tokyo Medical and Dental University, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Tokyo Medical and Dental University, Tokyo, Japan","institution_ids":["https://openalex.org/I125602781"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062568173","display_name":"Fabiana S. Scornik","orcid":"https://orcid.org/0000-0002-0477-1924","observed_orcids":["https://orcid.org/0000-0002-0477-1924"]},"institutions":[{"id":"https://openalex.org/I4210088652","display_name":"Masonic Medical Research Laboratory","ror":"https://ror.org/004rs4477","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210088652"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"FABIANA SCORNIK","raw_affiliation_strings":["Masonic Medical Research Laboratory, Utica, New York, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Masonic Medical Research Laboratory, Utica, New York, USA","institution_ids":["https://openalex.org/I4210088652"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019395807","display_name":"Jonathan M. Cordeiro","orcid":"https://orcid.org/0000-0002-4311-4599","observed_orcids":["https://orcid.org/0000-0002-4311-4599"]},"institutions":[{"id":"https://openalex.org/I4210088652","display_name":"Masonic Medical Research Laboratory","ror":"https://ror.org/004rs4477","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210088652"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"JONATHAN M. CORDEIRO","raw_affiliation_strings":["Masonic Medical Research Laboratory, Utica, New York, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Masonic Medical Research Laboratory, Utica, New York, USA","institution_ids":["https://openalex.org/I4210088652"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102138359","display_name":"Yuesheng Wu","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210088652","display_name":"Masonic Medical Research Laboratory","ror":"https://ror.org/004rs4477","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210088652"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"YUESHENG WU","raw_affiliation_strings":["Masonic Medical Research Laboratory, Utica, New York, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Masonic Medical Research Laboratory, Utica, New York, USA","institution_ids":["https://openalex.org/I4210088652"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008653190","display_name":"Mayurika Desai","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210088652","display_name":"Masonic Medical Research Laboratory","ror":"https://ror.org/004rs4477","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210088652"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"MAYURIKA DESAI","raw_affiliation_strings":["Masonic Medical Research Laboratory, Utica, New York, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Masonic Medical Research Laboratory, Utica, New York, USA","institution_ids":["https://openalex.org/I4210088652"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032859480","display_name":"Alejandra Guerchicoff","orcid":"https://orcid.org/0000-0003-3932-9834","observed_orcids":["https://orcid.org/0000-0003-3932-9834"]},"institutions":[{"id":"https://openalex.org/I4210088652","display_name":"Masonic Medical Research Laboratory","ror":"https://ror.org/004rs4477","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210088652"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"ALEJANDRA GUERCHICOFF","raw_affiliation_strings":["Masonic Medical Research Laboratory, Utica, New York, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Masonic Medical Research Laboratory, Utica, New York, USA","institution_ids":["https://openalex.org/I4210088652"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085731598","display_name":"Yasutoshi Nagata","orcid":"https://orcid.org/0000-0002-2484-5919","observed_orcids":["https://orcid.org/0000-0002-2484-5919"]},"institutions":[{"id":"https://openalex.org/I4210088654","display_name":"Tsuchiura Kyodo General Hospital","ror":"https://ror.org/004t34t94","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210088654"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"YASUTOSHI NAGATA","raw_affiliation_strings":["Tsuchiura Kyodo General Hospital, Ibaragi, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Tsuchiura Kyodo General Hospital, Ibaragi, Japan","institution_ids":["https://openalex.org/I4210088654"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048754839","display_name":"Yoshito Iesaka","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210088654","display_name":"Tsuchiura Kyodo General Hospital","ror":"https://ror.org/004t34t94","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210088654"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"YOSHITO IESAKA","raw_affiliation_strings":["Tsuchiura Kyodo General Hospital, Ibaragi, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Tsuchiura Kyodo General Hospital, Ibaragi, Japan","institution_ids":["https://openalex.org/I4210088654"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110195244","display_name":"AKINORI KIMURA","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I125602781","display_name":"Tokyo Medical and Dental University","ror":"https://ror.org/051k3eh31","country_code":"JP","type":"education","lineage":["https://openalex.org/I125602781","https://openalex.org/I4400009020"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"AKINORI KIMURA","raw_affiliation_strings":["Tokyo Medical and Dental University, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Tokyo Medical and Dental University, Tokyo, Japan","institution_ids":["https://openalex.org/I125602781"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085280644","display_name":"Masayasu Hiraoka","orcid":"https://orcid.org/0000-0001-9533-6153","observed_orcids":["https://orcid.org/0000-0001-9533-6153"]},"institutions":[{"id":"https://openalex.org/I125602781","display_name":"Tokyo Medical and Dental University","ror":"https://ror.org/051k3eh31","country_code":"JP","type":"education","lineage":["https://openalex.org/I125602781","https://openalex.org/I4400009020"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"MASAYASU HIRAOKA","raw_affiliation_strings":["Tokyo Medical and Dental University, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Tokyo Medical and Dental University, Tokyo, Japan","institution_ids":["https://openalex.org/I125602781"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5005749391","display_name":"Charles N Antzelevitch","orcid":"https://orcid.org/0000-0001-7349-1582","observed_orcids":["https://orcid.org/0000-0001-7349-1582"]},"institutions":[{"id":"https://openalex.org/I4210088652","display_name":"Masonic Medical Research Laboratory","ror":"https://ror.org/004rs4477","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210088652"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"CHARLES ANTZELEVITCH","raw_affiliation_strings":["Masonic Medical Research Laboratory, Utica, New York, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Masonic Medical Research Laboratory, Utica, New York, USA","institution_ids":["https://openalex.org/I4210088652"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5005749391"],"corresponding_institution_ids":["https://openalex.org/I4210088652"],"apc_list":{"value":4500,"currency":"USD","value_usd":4500},"apc_paid":null,"fwci":3.3476,"has_fulltext":false,"cited_by_count":30,"citation_normalized_percentile":{"value":0.92796157,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"18","issue":"9","first_page":"972","last_page":"977"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10217","display_name":"Cardiac electrophysiology and arrhythmias","score":0.9945999979972839,"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":0.9945999979972839,"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":0.005400000140070915,"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/T10724","display_name":"Ion Transport and Channel Regulation","score":0.0,"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/kcnq1","display_name":"KCNQ1","score":0.9769999980926514},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.6190000176429749},{"id":"https://openalex.org/keywords/dominant-negative","display_name":"dominant negative effect","score":0.9390000104904175},{"id":"https://openalex.org/keywords/iks","display_name":"IKs","score":0.925000011920929},{"id":"https://openalex.org/keywords/kcne1","display_name":"KCNE1","score":0.9760000109672546},{"id":"https://openalex.org/keywords/ventricular-arrhythmias","display_name":"ventricular arrhythmias","score":0.5080000162124634}],"concepts":[{"id":"https://openalex.org/C2779703243","wikidata":"https://www.wikidata.org/wiki/Q653924","display_name":"Long QT syndrome","level":3,"score":0.8404028415679932},{"id":"https://openalex.org/C54009773","wikidata":"https://www.wikidata.org/wiki/Q1429031","display_name":"Transfection","level":3,"score":0.6717116236686707},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.6580402851104736},{"id":"https://openalex.org/C147944092","wikidata":"https://www.wikidata.org/wiki/Q176366","display_name":"Patch clamp","level":3,"score":0.5967349410057068},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5958852767944336},{"id":"https://openalex.org/C118441451","wikidata":"https://www.wikidata.org/wiki/Q12074763","display_name":"QT interval","level":2,"score":0.49419620633125305},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.4868301749229431},{"id":"https://openalex.org/C175656101","wikidata":"https://www.wikidata.org/wiki/Q56646","display_name":"Chinese hamster ovary cell","level":3,"score":0.4395272135734558},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.4186546802520752},{"id":"https://openalex.org/C185263204","wikidata":"https://www.wikidata.org/wiki/Q1154774","display_name":"Electrophysiology","level":2,"score":0.4021160304546356},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.37176498770713806},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3293626606464386},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.312187522649765},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.19323402643203735},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","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":"D003412","descriptor_name":"Cricetulus","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":"D005799","descriptor_name":"Genes, Dominant","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006224","descriptor_name":"Cricetinae","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006329","descriptor_name":"Heart Conduction System","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008133","descriptor_name":"Long QT Syndrome","qualifier_ui":"Q000145","qualifier_name":"classification","is_major_topic":true},{"descriptor_ui":"D008133","descriptor_name":"Long QT Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008133","descriptor_name":"Long QT Syndrome","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D016466","descriptor_name":"CHO Cells","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D051657","descriptor_name":"KCNQ1 Potassium Channel","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1111/j.1540-8167.2007.00889.x","doi":"https://doi.org/10.1111/j.1540-8167.2007.00889.x","is_oa":false,"landing_page_url":"https://doi.org/10.1111/j.1540-8167.2007.00889.x","pdf_url":null,"source":{"id":"https://openalex.org/S143832381","display_name":"Journal of Cardiovascular Electrophysiology","issn_l":"1045-3873","issn":["1045-3873","1540-8167"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"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":"Journal of Cardiovascular Electrophysiology","raw_type":"journal-article"},{"id":"pmid:17655673","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/17655673","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":"Journal of cardiovascular electrophysiology","raw_type":"Case Reports"},{"id":"pmh:oai:pubmedcentral.nih.gov:2085492","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2085492","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":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"J Cardiovasc Electrophysiol","raw_type":"Text"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:2085492","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2085492","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":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"J Cardiovasc Electrophysiol","raw_type":"Text"},"sustainable_development_goals":[{"score":0.9391000270843506,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G380388557","display_name":null,"funder_award_id":"HL-47678","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G700104064","display_name":"Development of Novel Approaches for the Pharmacologic Treatment of Atrial Fibrill","funder_award_id":"R01HL047678","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"}],"funders":[{"id":"https://openalex.org/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":22,"referenced_works":["https://openalex.org/W1938060089","https://openalex.org/W1973522972","https://openalex.org/W1982019406","https://openalex.org/W1988015754","https://openalex.org/W1993563786","https://openalex.org/W1994172923","https://openalex.org/W1995081108","https://openalex.org/W1999104552","https://openalex.org/W2021617984","https://openalex.org/W2026326856","https://openalex.org/W2046045346","https://openalex.org/W2082058976","https://openalex.org/W2082116513","https://openalex.org/W2085024045","https://openalex.org/W2085199612","https://openalex.org/W2092288620","https://openalex.org/W2109020572","https://openalex.org/W2116371588","https://openalex.org/W2121677695","https://openalex.org/W2145378539","https://openalex.org/W2155455801","https://openalex.org/W2167208958"],"related_works":["https://openalex.org/W6906460411","https://openalex.org/W1993563786","https://openalex.org/W2055091318","https://openalex.org/W2039933709","https://openalex.org/W2280213617","https://openalex.org/W2124068092","https://openalex.org/W2996829816","https://openalex.org/W2138066777","https://openalex.org/W2082116513","https://openalex.org/W2075754895"],"abstract_inverted_index":{"INTRODUCTION:":[0],"Long":[1],"QT":[2,12],"Syndrome":[3],"(LQTS)":[4],"is":[5,24,236],"an":[6,247],"inherited":[7],"disorder":[8],"characterized":[9],"by":[10,21,59],"prolonged":[11],"intervals":[13],"and":[14,49,83,88,120,161,185,255],"life-threatening":[15],"polymorphic":[16],"ventricular":[17],"tachyarrhythmias.":[18],"LQT1":[19,261],"caused":[20,58],"KCNQ1":[22,57,79,187,235],"mutations":[23,42],"the":[25,64,101,104,131],"most":[26],"common":[27],"form":[28,262],"of":[29,70,78,103,133,183,224,251,253,263],"LQTS.":[30,264],"METHODS":[31],"AND":[32],"RESULTS:":[33],"Patients":[34],"diagnosed":[35],"with":[36,92,118,130,159,190,238],"LQTS":[37],"were":[38,86],"screened":[39],"for":[40],"disease-associated":[41],"in":[43,56,75,96,234],"KCNQ1,":[44],"KCNH2,":[45],"KCNE1,":[46,191],"KCNE2,":[47],"KCNJ2,":[48],"SCN5A.":[50],"A":[51],"novel":[52],"mutation":[53,233],"was":[54,149],"identified":[55],"a":[60,68,93,143,214,231,239,260],"three-base":[61],"deletion":[62,69],"at":[63,72,139],"position":[65],"824-826,":[66],"predicting":[67],"phenylalanine":[71],"codon":[73],"275":[74],"segment":[76],"5":[77],"(DeltaF275).":[80],"Wild-type":[81],"(WT)":[82],"DeltaF275-KCNQ1":[84,160],"constructs":[85],"generated":[87],"transiently":[89],"transfected":[90,117,158],"together":[91],"KCNE1":[94,121,162],"construct":[95],"CHO-K1":[97],"cells":[98],"to":[99,146,194,246],"characterize":[100],"properties":[102],"slowly":[105,126],"activating":[106,127],"delayed":[107],"rectifier":[108],"current":[109,129,136,168,196,198],"(IKs)":[110],"using":[111],"conventional":[112],"whole-cell":[113],"patch-clamp":[114],"techniques.":[115],"Cells":[116,157],"WT-KCNQ1":[119],"(1:1.3":[122],"molar":[123],"ratio)":[124],"produced":[125,192],"outward":[128],"characteristics":[132],"IKs.":[134],"Tail":[135],"density":[137],"measured":[138],"-40":[140],"mV":[141,148],"following":[142],"two-second":[144],"step":[145],"+60":[147],"381.3":[150],"+/-":[151,171,201],"62.6":[152],"pA/pF":[153],"(n":[154],"=":[155,175,178,205,208],"11).":[156],"exhibited":[163],"essentially":[164],"no":[165,195],"current.":[166],"(Tail":[167],"density:":[169,199],"0.8":[170],"2.1":[172],"pA/pF,":[173,203],"n":[174,204],"11,":[176,206],"P":[177,207],"0.00001":[179,209],"vs":[180,210],"WT).":[181],"Cotransfection":[182],"WT-":[184],"DeltaF275-":[186],"(50/50),":[188],"along":[189],"little":[193],"(tail":[197],"10.3":[200],"3.5":[202],"WT":[211],"alone),":[212],"suggesting":[213],"potent":[215,241],"dominant":[216,242],"negative":[217,243],"effect.":[218],"Immunohistochemistry":[219],"showed":[220],"normal":[221],"membrane":[222],"trafficking":[223],"DeltaF275-KCNQ1.":[225],"CONCLUSION:":[226],"Our":[227],"data":[228],"suggest":[229],"that":[230,256],"DeltaF275":[232],"associated":[237],"very":[240],"effect":[244],"leading":[245],"almost":[248],"complete":[249],"loss":[250],"function":[252],"IKs":[254],"this":[257],"defect":[258],"underlies":[259]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2015,"cited_by_count":3},{"year":2014,"cited_by_count":2},{"year":2013,"cited_by_count":1}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}