{"id":"https://openalex.org/W2080643147","doi":"https://doi.org/10.1074/jbc.a111.249656","title":"Identification and Functional Characterization of Kir2.6 Mutations Associated with Non-familial Hypokalemic Periodic Paralysis","display_name":"Identification and Functional Characterization of Kir2.6 Mutations Associated with Non-familial Hypokalemic Periodic Paralysis","publication_year":2011,"publication_date":"2011-06-11","ids":{"openalex":"https://openalex.org/W2080643147","doi":"https://doi.org/10.1074/jbc.a111.249656","mag":"2080643147","pmid":"https://pubmed.ncbi.nlm.nih.gov/21665951","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3149336"},"language":"en","primary_location":{"id":"doi:10.1074/jbc.a111.249656","doi":"https://doi.org/10.1074/jbc.a111.249656","is_oa":true,"landing_page_url":"https://doi.org/10.1074/jbc.a111.249656","pdf_url":null,"source":{"id":"https://openalex.org/S140251998","display_name":"Journal of Biological Chemistry","issn_l":"0021-9258","issn":["0021-9258","1067-8816","1083-351X"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-100","vabb-shw"],"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Biological Chemistry","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://doi.org/10.1074/jbc.a111.249656","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5113639632","display_name":"Chih-Jen Cheng","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1293718874","display_name":"Tri-Service General Hospital","ror":"https://ror.org/007h4qe29","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I1293718874"]},{"id":"https://openalex.org/I68171755","display_name":"National Defense Medical Center","ror":"https://ror.org/02bn97g32","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I68171755"]},{"id":"https://openalex.org/I867280407","display_name":"The University of Texas Southwestern Medical Center","ror":"https://ror.org/05byvp690","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I867280407"]}],"countries":["TW","US"],"is_corresponding":false,"raw_author_name":"Chih-Jen Cheng","raw_affiliation_strings":["Department of Medicine, Division of Nephrology, Tri-Service General Hospital, National Defense Medical Center, Taipei 114, Taiwan","Department of Medicine, Division of Nephrology, University of Texas, Southwestern Medical Center, Dallas, Texas 75390-8856"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, Division of Nephrology, Tri-Service General Hospital, National Defense Medical Center, Taipei 114, Taiwan","institution_ids":["https://openalex.org/I1293718874","https://openalex.org/I68171755"]},{"raw_affiliation_string":"Department of Medicine, Division of Nephrology, University of Texas, Southwestern Medical Center, Dallas, Texas 75390-8856","institution_ids":["https://openalex.org/I867280407"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110232288","display_name":"Shih-Hua Lin","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1293718874","display_name":"Tri-Service General Hospital","ror":"https://ror.org/007h4qe29","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I1293718874"]},{"id":"https://openalex.org/I68171755","display_name":"National Defense Medical Center","ror":"https://ror.org/02bn97g32","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I68171755"]}],"countries":["TW"],"is_corresponding":true,"raw_author_name":"Shih-Hua Lin","raw_affiliation_strings":["Department of Medicine, Division of Nephrology, Tri-Service General Hospital, National Defense Medical Center, Taipei 114, Taiwan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, Division of Nephrology, Tri-Service General Hospital, National Defense Medical Center, Taipei 114, Taiwan","institution_ids":["https://openalex.org/I1293718874","https://openalex.org/I68171755"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109208380","display_name":"Yi\u2010Fen Lo","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1293718874","display_name":"Tri-Service General Hospital","ror":"https://ror.org/007h4qe29","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I1293718874"]},{"id":"https://openalex.org/I68171755","display_name":"National Defense Medical Center","ror":"https://ror.org/02bn97g32","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I68171755"]}],"countries":["TW"],"is_corresponding":false,"raw_author_name":"Yi-Fen Lo","raw_affiliation_strings":["Department of Medicine, Division of Nephrology, Tri-Service General Hospital, National Defense Medical Center, Taipei 114, Taiwan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, Division of Nephrology, Tri-Service General Hospital, National Defense Medical Center, Taipei 114, Taiwan","institution_ids":["https://openalex.org/I1293718874","https://openalex.org/I68171755"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110157346","display_name":"Sung-Sen Yang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1293718874","display_name":"Tri-Service General Hospital","ror":"https://ror.org/007h4qe29","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I1293718874"]},{"id":"https://openalex.org/I68171755","display_name":"National Defense Medical Center","ror":"https://ror.org/02bn97g32","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I68171755"]}],"countries":["TW"],"is_corresponding":false,"raw_author_name":"Sung-Sen Yang","raw_affiliation_strings":["Department of Medicine, Division of Nephrology, Tri-Service General Hospital, National Defense Medical Center, Taipei 114, Taiwan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, Division of Nephrology, Tri-Service General Hospital, National Defense Medical Center, Taipei 114, Taiwan","institution_ids":["https://openalex.org/I1293718874","https://openalex.org/I68171755"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054777257","display_name":"Yu\u2010Juei Hsu","orcid":"https://orcid.org/0000-0002-9696-612X","observed_orcids":["https://orcid.org/0000-0002-9696-612X"]},"institutions":[{"id":"https://openalex.org/I1293718874","display_name":"Tri-Service General Hospital","ror":"https://ror.org/007h4qe29","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I1293718874"]},{"id":"https://openalex.org/I68171755","display_name":"National Defense Medical Center","ror":"https://ror.org/02bn97g32","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I68171755"]}],"countries":["TW"],"is_corresponding":false,"raw_author_name":"Yu-Juei Hsu","raw_affiliation_strings":["Department of Medicine, Division of Nephrology, Tri-Service General Hospital, National Defense Medical Center, Taipei 114, Taiwan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, Division of Nephrology, Tri-Service General Hospital, National Defense Medical Center, Taipei 114, Taiwan","institution_ids":["https://openalex.org/I1293718874","https://openalex.org/I68171755"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082619971","display_name":"Stephen C. Cannon","orcid":"https://orcid.org/0000-0001-8428-3690","observed_orcids":["https://orcid.org/0000-0001-8428-3690"]},"institutions":[{"id":"https://openalex.org/I867280407","display_name":"The University of Texas Southwestern Medical Center","ror":"https://ror.org/05byvp690","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I867280407"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Stephen C. Cannon","raw_affiliation_strings":["Department of Neurology and Program in Neuroscience, University of Texas, Southwestern Medical Center, Dallas, Texas 75390-8856"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology and Program in Neuroscience, University of Texas, Southwestern Medical Center, Dallas, Texas 75390-8856","institution_ids":["https://openalex.org/I867280407"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5109193350","display_name":"Chou-Long Huang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I867280407","display_name":"The University of Texas Southwestern Medical Center","ror":"https://ror.org/05byvp690","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I867280407"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Chou-Long Huang","raw_affiliation_strings":["Department of Medicine, Division of Nephrology, University of Texas, Southwestern Medical Center, Dallas, Texas 75390-8856"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, Division of Nephrology, University of Texas, Southwestern Medical Center, Dallas, Texas 75390-8856","institution_ids":["https://openalex.org/I867280407"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5109193350","https://openalex.org/A5110232288"],"corresponding_institution_ids":["https://openalex.org/I1293718874","https://openalex.org/I68171755","https://openalex.org/I867280407"],"apc_list":{"value":3430,"currency":"USD","value_usd":3430},"apc_paid":{"value":3430,"currency":"USD","value_usd":3430},"fwci":2.2469,"has_fulltext":true,"cited_by_count":68,"citation_normalized_percentile":{"value":0.88782584,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"286","issue":"31","first_page":"27425","last_page":"27435"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10493","display_name":"Ion channel regulation and function","score":0.9945999979972839,"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"}},"topics":[{"id":"https://openalex.org/T10493","display_name":"Ion channel regulation and function","score":0.9945999979972839,"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/T10217","display_name":"Cardiac electrophysiology and arrhythmias","score":0.0024999999441206455,"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/T12876","display_name":"Potassium and Related Disorders","score":0.0015999999595806003,"subfield":{"id":"https://openalex.org/subfields/2727","display_name":"Nephrology"},"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/thyrotoxic-periodic-paralysis","display_name":"thyrotoxic periodic paralysis","score":0.9240000247955322},{"id":"https://openalex.org/keywords/inwardly-rectifying-potassium-channels","display_name":"inwardly rectifying potassium channels","score":0.9330000281333923},{"id":"https://openalex.org/keywords/dominant-negative-inhibition","display_name":"dominant negative inhibition","score":0.7870000004768372},{"id":"https://openalex.org/keywords/kir2-1","display_name":"Kir2.1","score":0.8519999980926514},{"id":"https://openalex.org/keywords/skeletal-muscle-excitability","display_name":"skeletal muscle excitability","score":0.6439999938011169},{"id":"https://openalex.org/keywords/cell-surface-expression","display_name":"cell surface expression","score":0.5759999752044678},{"id":"https://openalex.org/keywords/single-channel-conductance","display_name":"single-channel conductance","score":0.5379999876022339}],"concepts":[{"id":"https://openalex.org/C2776532573","wikidata":"https://www.wikidata.org/wiki/Q1788314","display_name":"Periodic paralysis","level":3,"score":0.7630082964897156},{"id":"https://openalex.org/C2781079590","wikidata":"https://www.wikidata.org/wiki/Q622828","display_name":"Hypokalemic periodic paralysis","level":3,"score":0.7450578212738037},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5890186429023743},{"id":"https://openalex.org/C2778242168","wikidata":"https://www.wikidata.org/wiki/Q794086","display_name":"Hypokalemia","level":2,"score":0.5506864190101624},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.497151643037796},{"id":"https://openalex.org/C2779618896","wikidata":"https://www.wikidata.org/wiki/Q107231","display_name":"Paralysis","level":2,"score":0.48693954944610596},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.44334858655929565},{"id":"https://openalex.org/C2779959927","wikidata":"https://www.wikidata.org/wiki/Q1048687","display_name":"Skeletal muscle","level":2,"score":0.43587082624435425},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.43499165773391724},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.4340791702270508},{"id":"https://openalex.org/C199096232","wikidata":"https://www.wikidata.org/wiki/Q1545001","display_name":"Sarcolemma","level":3,"score":0.42787033319473267},{"id":"https://openalex.org/C207583985","wikidata":"https://www.wikidata.org/wiki/Q128723","display_name":"Wild type","level":4,"score":0.42379334568977356},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3942517638206482},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.3714732527732849},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.2676679491996765},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2643420696258545},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.0}],"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":"D001483","descriptor_name":"Base Sequence","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":"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":true},{"descriptor_ui":"D017931","descriptor_name":"DNA Primers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020514","descriptor_name":"Hypokalemic Periodic Paralysis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D024661","descriptor_name":"Potassium Channels, Inwardly Rectifying","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":7,"locations":[{"id":"doi:10.1074/jbc.a111.249656","doi":"https://doi.org/10.1074/jbc.a111.249656","is_oa":true,"landing_page_url":"https://doi.org/10.1074/jbc.a111.249656","pdf_url":null,"source":{"id":"https://openalex.org/S140251998","display_name":"Journal of Biological Chemistry","issn_l":"0021-9258","issn":["0021-9258","1067-8816","1083-351X"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-100","vabb-shw"],"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Biological Chemistry","raw_type":"journal-article"},{"id":"doi:10.1074/jbc.m111.249656","doi":"https://doi.org/10.1074/jbc.m111.249656","is_oa":true,"landing_page_url":"https://doi.org/10.1074/jbc.m111.249656","pdf_url":"http://www.jbc.org/article/S0021925820503487/pdf","source":{"id":"https://openalex.org/S140251998","display_name":"Journal of Biological Chemistry","issn_l":"0021-9258","issn":["0021-9258","1067-8816","1083-351X"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-100","vabb-shw"],"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Biological Chemistry","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:2198754","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3190918","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:europepmc.org:2417296","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3149336","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:3149336","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3149336","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":"J Biol Chem","raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:3190918","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3190918","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":"J Biol Chem","raw_type":"Text"},{"id":"pmid:21665951","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21665951","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 Journal of biological chemistry","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1074/jbc.a111.249656","doi":"https://doi.org/10.1074/jbc.a111.249656","is_oa":true,"landing_page_url":"https://doi.org/10.1074/jbc.a111.249656","pdf_url":null,"source":{"id":"https://openalex.org/S140251998","display_name":"Journal of Biological Chemistry","issn_l":"0021-9258","issn":["0021-9258","1067-8816","1083-351X"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-100","vabb-shw"],"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Biological Chemistry","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9074000120162964,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G395378725","display_name":null,"funder_award_id":"P30DK079328","funder_id":"https://openalex.org/F4320310169","funder_display_name":"University of Texas Southwestern Medical Center"},{"id":"https://openalex.org/G7496888697","display_name":"Membrane Trafficking of Renal Ion Transport Proteins in Potassium Homeostasis","funder_award_id":"R01DK059530","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G7584882416","display_name":"UT Southwestern O'Brien Kidney Research Core Center","funder_award_id":"P30DK079328","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G8196324156","display_name":"Molecular Physiology of Myotonia and Periodic Paralysis","funder_award_id":"R37AR042703","funder_id":"https://openalex.org/F4320337362","funder_display_name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases"}],"funders":[{"id":"https://openalex.org/F4320310169","display_name":"University of Texas Southwestern Medical Center","ror":"https://ror.org/05byvp690"},{"id":"https://openalex.org/F4320321040","display_name":"National Science Council","ror":"https://ror.org/02kv4zf79"},{"id":"https://openalex.org/F4320324890","display_name":"Ministry of Defense","ror":"https://ror.org/04wxm6g36"},{"id":"https://openalex.org/F4320326425","display_name":"Tri-Service General Hospital","ror":"https://ror.org/007h4qe29"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337357","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73"},{"id":"https://openalex.org/F4320337362","display_name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","ror":"https://ror.org/006zn3t30"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2080643147.pdf","grobid_xml":"https://content.openalex.org/works/W2080643147.grobid-xml"},"referenced_works_count":34,"referenced_works":["https://openalex.org/W1522760876","https://openalex.org/W1566052687","https://openalex.org/W1967798714","https://openalex.org/W1969243977","https://openalex.org/W1972002662","https://openalex.org/W1972418047","https://openalex.org/W1975202593","https://openalex.org/W1982643277","https://openalex.org/W1998130848","https://openalex.org/W1999626894","https://openalex.org/W2016313902","https://openalex.org/W2018981526","https://openalex.org/W2036016525","https://openalex.org/W2041572075","https://openalex.org/W2042531363","https://openalex.org/W2052112004","https://openalex.org/W2062895124","https://openalex.org/W2064103541","https://openalex.org/W2071625473","https://openalex.org/W2081912246","https://openalex.org/W2084567320","https://openalex.org/W2087117762","https://openalex.org/W2116159595","https://openalex.org/W2121399400","https://openalex.org/W2138256148","https://openalex.org/W2148373790","https://openalex.org/W2150382251","https://openalex.org/W2153142149","https://openalex.org/W2157788198","https://openalex.org/W2159394621","https://openalex.org/W2159477041","https://openalex.org/W2161227647","https://openalex.org/W2277137046","https://openalex.org/W2419769163"],"related_works":["https://openalex.org/W2965557885","https://openalex.org/W2302443729","https://openalex.org/W2466761209","https://openalex.org/W2150382251","https://openalex.org/W2418391001","https://openalex.org/W2948034909","https://openalex.org/W1649985056","https://openalex.org/W2073944083","https://openalex.org/W2075005354","https://openalex.org/W1973458913"],"abstract_inverted_index":{"Hypokalemic":[0,255],"periodic":[1,44,49,256,299,304],"paralysis":[2,9,45,50,95,257,264,300,305,350],"(hypoKPP)":[3,258],"is":[4,52,259,307],"characterized":[5,260],"by":[6,24,149,261,279,404],"episodic":[7,262],"flaccid":[8,263],"of":[10,19,26,42,77,89,131,142,213,232,253,265,274,281,297,332,344,386,397,468,487,508],"muscle":[11,266],"and":[12,47,86,111,126,144,151,165,172,184,251,267,302,341,366,381,399,406,420,427,439,506],"acute":[13,268],"hypokalemia":[14,269],"during":[15,241,270,496],"attacks.":[16,271],"Familial":[17,272],"forms":[18,273],"hypoKPP":[20,85,275,340],"are":[21,96,215,276,351,470],"predominantly":[22,277],"caused":[23,278],"mutations":[25,56,76,88,115,121,212,280,311,331,343,370,376,467],"either":[27,282],"voltage-gated":[28,283],"Ca2+":[29,284],"or":[30,285],"Na+":[31,248,286,503],"channels.":[32,287],"The":[33,288],"pathogenic":[34,289],"gene":[35,290],"mutation":[36,104,291,359],"in":[37,57,71,80,105,107,116,123,207,244,292,312,326,335,360,362,371,378,462,499],"non-familial":[38,84,293,339],"hypoKPP,":[39,294],"consisting":[40,295],"mainly":[41,296],"thyrotoxic":[43,298],"(TPP)":[46,301],"sporadic":[48,303],"(SPP),":[51,306],"largely":[53,308],"unknown.":[54,97,309,352],"Recently,":[55,310],"KCNJ18,":[58,313],"which":[59,243,314,498],"encodes":[60,315],"a":[61,316],"skeletal":[62,209,317,464],"muscle-specific":[63,318],"inwardly":[64,319],"rectifying":[65,320],"K+":[66,228,321,483],"channel":[67,91,163,205,249,322,346,418,460,504],"Kir2.6,":[68,132,323,387],"were":[69,147,168,324,402,423],"reported":[70,325],"some":[72,327],"TPP":[73,109,328,364],"patients.":[74,119,329,374],"Whether":[75,330],"Kir2.6":[78,196,214,233,333,451,469,488],"occur":[79,334],"other":[81,336],"patients":[82,93,110,337,348,365],"with":[83,135,217,338,390,472],"how":[87,342],"the":[90,136,159,208,235,345,391,414,463,490],"predispose":[92,347],"to":[94,237,247,349,492,502],"Here,":[98,353],"we":[99,354],"report":[100,355],"one":[101,356],"conserved":[102,357],"heterozygous":[103,114,358,369],"KCNJ18":[106,361],"two":[108,112,117,363,367,372],"separate":[113,368],"SPP":[118,218,373,473],"These":[120,375],"result":[122,377],"V168M,":[124,173,379,428],"R43C,":[125,380],"A200P":[127,160,382,415],"amino":[128,383],"acid":[129,384],"substitution":[130,385],"respectively.":[133,153,174,388,408,429],"Compared":[134,389],"wild":[137,194,200,392,449,455],"type":[138,195,201,393,450,456],"channel,":[139,394],"whole-cell":[140,395],"currents":[141,396],"R43C":[143,171,183,398,426,438],"V168M":[145,400],"mutants":[146,188,401,443],"reduced":[148,169,178,403,424,433],"\u223c78":[150,405],"43%,":[152,407],"No":[154,409],"current":[155,229,410,484],"was":[156,411],"detected":[157,412],"for":[158,170,182,413,425,437],"mutant.":[161,416],"Single":[162,417],"conductance":[164,419],"open":[166,421],"probability":[167,422],"Biotinylation":[175,430],"assays":[176,431],"showed":[177,432],"cell":[179,434],"surface":[180,435],"abundance":[181,436],"A200P.":[185,440],"All":[186,441],"three":[187,442],"exerted":[189,444],"dominant":[190,445],"negative":[191,446],"inhibition":[192,447],"on":[193,448],"as":[197,199,219,221,452,454,474,476],"well":[198,220,453,475],"Kir2.1,":[202,457],"another":[203,458],"Kir":[204,459],"expressed":[206,461],"muscle.":[210,465],"Thus,":[211,466],"associated":[216,471],"TPP.":[222,477],"We":[223,478],"suggest":[224,479],"that":[225,480],"decreased":[226,481],"outward":[227,482],"from":[230,485],"hypofunction":[231,486],"predisposes":[234,489],"sarcolemma":[236,491],"hypokalemia-induced":[238,493],"paradoxical":[239,494],"depolarization":[240,495],"attacks,":[242,497],"turn":[245,500],"leads":[246,501],"inactivation":[250,505],"inexcitability":[252,507],"muscles.":[254,509]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":5},{"year":2023,"cited_by_count":5},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":7},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":5},{"year":2017,"cited_by_count":3},{"year":2016,"cited_by_count":6},{"year":2015,"cited_by_count":7},{"year":2014,"cited_by_count":7},{"year":2013,"cited_by_count":7},{"year":2012,"cited_by_count":5}],"updated_date":"2026-11-06T12:05:46.655746","created_date":"2016-06-24T00:00:00"}
