{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T14:26:36Z","timestamp":1781706396024,"version":"3.54.5"},"reference-count":62,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,11,22]],"date-time":"2025-11-22T00:00:00Z","timestamp":1763769600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100005859","name":"Heart Rhythm Society","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005859","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004240","name":"Akademie V\u011bd \u010cesk\u00e9 Republiky","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004240","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100017540","name":"National Heart Lung and Blood Institute Division of Intramural Research","doi-asserted-by":"publisher","award":["R01 HL163987"],"award-info":[{"award-number":["R01 HL163987"]}],"id":[{"id":"10.13039\/100017540","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100017540","name":"National Heart Lung and Blood Institute Division of Intramural Research","doi-asserted-by":"publisher","award":["R01 HL170521"],"award-info":[{"award-number":["R01 HL170521"]}],"id":[{"id":"10.13039\/100017540","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["jbc.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Biological Chemistry"],"published-print":{"date-parts":[[2026,1]]},"DOI":"10.1016\/j.jbc.2025.110985","type":"journal-article","created":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T00:30:58Z","timestamp":1764117058000},"page":"110985","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"title":["Large-scale functional assessment of variants of the potassium channel Kir2.1: Clinical and comparative insights"],"prefix":"10.1016","volume":"302","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6898-8479","authenticated-orcid":false,"given":"Corey L.","family":"Anderson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saba","family":"Munawar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janay K.","family":"Walters","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seamus F.","family":"McWilliams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Molly","family":"Melnick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma R.","family":"Langer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Igor","family":"Bereslavskyy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maxwell R.","family":"Milaitis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise","family":"Reilly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lee L.","family":"Eckhardt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jbc.2025.110985_bib1","doi-asserted-by":"crossref","DOI":"10.3389\/fcvm.2022.900431","article-title":"How functional genomics can keep pace with VUS identification","volume":"9","author":"Anderson","year":"2022","journal-title":"Front. Cardiovasc. Med."},{"key":"10.1016\/j.jbc.2025.110985_bib2","doi-asserted-by":"crossref","first-page":"1423","DOI":"10.1016\/j.hrthm.2021.04.008","article-title":"Cardiac potassium inward rectifier Kir2: review of structure, regulation, pharmacology and arrhythmogenesis","volume":"18","author":"Reilly","year":"2021","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.jbc.2025.110985_bib3","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1093\/cvr\/cvac118","article-title":"Molecular stratification of arrhythmogenic mechanisms in the andersen tawil syndrome","volume":"119","author":"Moreno-Manuel","year":"2022","journal-title":"Cardiovasc. Res."},{"key":"10.1016\/j.jbc.2025.110985_bib4","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for molecular pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"10.1016\/j.jbc.2025.110985_bib5","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1186\/s13073-019-0690-2","article-title":"Recommendations for application of the functional evidence PS3\/BS3 criterion using the ACMG\/AMP sequence variant interpretation framework","volume":"12","author":"Brnich","year":"2019","journal-title":"Genome Med."},{"key":"10.1016\/j.jbc.2025.110985_bib6","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGEN.124.004569","article-title":"Multisite validation of a functional assay to adjudicate SCN5A Brugada syndrome\u2013associated variants","volume":"17","author":"Ma","year":"2024","journal-title":"Circ. Genom. Precis. Med."},{"key":"10.1016\/j.jbc.2025.110985_bib7","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.76903","article-title":"Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning","volume":"11","author":"Coyote-Maestas","year":"2022","journal-title":"eLife"},{"key":"10.1016\/j.jbc.2025.110985_bib8","doi-asserted-by":"crossref","first-page":"1102","DOI":"10.1016\/j.cell.2011.06.007","article-title":"Golgi export of the Kir2.1 channel is driven by a trafficking signal located within its tertiary structure","volume":"145","author":"Ma","year":"2011","journal-title":"Cell"},{"key":"10.1016\/j.jbc.2025.110985_bib9","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1111\/j.1469-7793.1998.025bi.x","article-title":"The selectivity filter of a potassium channel, murine Kir2.1, investigated using scanning cysteine mutagenesis","volume":"511","author":"Dart","year":"1998","journal-title":"J. Physiol."},{"key":"10.1016\/j.jbc.2025.110985_bib10","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/j.yjmcc.2007.05.005","article-title":"T75M-KCNJ2 mutation causing Andersen\u2013Tawil syndrome enhances inward rectification by changing Mg2+ sensitivity","volume":"43","author":"Tani","year":"2007","journal-title":"J. Mol. Cell. Cardiol."},{"key":"10.1016\/j.jbc.2025.110985_bib11","doi-asserted-by":"crossref","first-page":"1923","DOI":"10.1093\/cvr\/cvaa249","article-title":"Impaired cytoplasmic domain interactions cause co-assembly defect and loss of function in the p.Glu293Lys KNCJ2 variant isolated from an Andersen\u2013Tawil syndrome patient","volume":"117","author":"D\u00e9ri","year":"2020","journal-title":"Cardiovasc. Res."},{"key":"10.1016\/j.jbc.2025.110985_bib12","doi-asserted-by":"crossref","first-page":"11006","DOI":"10.1074\/jbc.RA117.001293","article-title":"Select \u03b1-arrestins control cell-surface abundance of the mammalian Kir2.1 potassium channel in a yeast model","volume":"293","author":"Hager","year":"2018","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.jbc.2025.110985_bib13","doi-asserted-by":"crossref","first-page":"500","DOI":"10.4161\/chan.5.6.18524","article-title":"Characterization of a novel, dominant negative KCNJ2 mutation associated with Andersen-Tawil syndrome","volume":"5","author":"Marrus","year":"2011","journal-title":"Channels"},{"key":"10.1016\/j.jbc.2025.110985_bib14","doi-asserted-by":"crossref","first-page":"209","DOI":"10.4161\/chan.4770","article-title":"Exaggerated Mg2+ inhibition of KCNJ2 as a consequence of reduced PIP2 sensitivity in Andersen syndrome","volume":"1","author":"Ballester","year":"2007","journal-title":"Channels"},{"key":"10.1016\/j.jbc.2025.110985_bib15","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1186\/s13059-023-02880-6","article-title":"DIMPLE: deep insertion, deletion, and missense mutation libraries for exploring protein variation in evolution, disease, and biology","volume":"24","author":"Macdonald","year":"2023","journal-title":"Genome Biol."},{"key":"10.1016\/j.jbc.2025.110985_bib16","doi-asserted-by":"crossref","DOI":"10.1126\/sciadv.abq8489","article-title":"Cryo\u2013electron microscopy unveils unique structural features of the human Kir2.1 channel","volume":"8","author":"Fernandes","year":"2022","journal-title":"Sci. Adv."},{"key":"10.1016\/j.jbc.2025.110985_bib17","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1038\/s41586-023-06045-0","article-title":"A genomic mutational constraint map using variation in 76,156 human genomes","volume":"625","author":"Chen","year":"2024","journal-title":"Nature"},{"key":"10.1016\/j.jbc.2025.110985_bib18","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCEP.117.005800","article-title":"Inward rectifier potassium channels (Kir2.x) and Caveolin-3 domain\u2013specific interaction","volume":"11","author":"Vaidyanathan","year":"2018","journal-title":"Circ. Arrhythmia Electrophysiol."},{"key":"10.1016\/j.jbc.2025.110985_bib19","doi-asserted-by":"crossref","first-page":"3292","DOI":"10.1021\/acs.biochem.1c00555","article-title":"Proteomic analysis of the functional inward rectifier potassium channel (Kir) 2.1 reveals several novel phosphorylation sites","volume":"60","author":"Brown","year":"2021","journal-title":"Biochemistry"},{"key":"10.1016\/j.jbc.2025.110985_bib20","doi-asserted-by":"crossref","first-page":"e52","DOI":"10.1161\/CIRCRESAHA.123.323895","article-title":"Extracellular Kir2.1C122Y mutant upsets Kir2.1-PIP2 bonds and is arrhythmogenic in andersen-tawil syndrome","volume":"134","author":"Cruz","year":"2024","journal-title":"Circ. Res."},{"key":"10.1016\/j.jbc.2025.110985_bib21","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1007\/s00395-013-0353-1","article-title":"Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype","volume":"108","author":"Limberg","year":"2013","journal-title":"Basic Res. Cardiol."},{"key":"10.1016\/j.jbc.2025.110985_bib22","doi-asserted-by":"crossref","DOI":"10.1073\/pnas.2412971122","article-title":"Integrative analysis of KCNQ1 variants reveals molecular mechanisms of type 1 long QT syndrome pathogenesis","volume":"122","author":"Brewer","year":"2025","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.jbc.2025.110985_bib23","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1186\/s13059-025-03476-y","article-title":"MaveDB 2024: a curated community database with over seven million variant effects from multiplexed functional assays","volume":"26","author":"Rubin","year":"2025","journal-title":"Genome Biol."},{"key":"10.1016\/j.jbc.2025.110985_bib24","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2021.773177","article-title":"Characterization of loss-of-function KCNJ2 mutations in atypical andersen tawil syndrome","volume":"12","author":"Tanno","year":"2021","journal-title":"Front. Genet."},{"key":"10.1016\/j.jbc.2025.110985_bib25","doi-asserted-by":"crossref","first-page":"1315","DOI":"10.1002\/yea.1333","article-title":"New phenotypes of functional expression of the mKir2.1 channel in potassium efflux-deficient Saccharomyces cerevisiae strains","volume":"22","author":"Kolacna","year":"2005","journal-title":"Yeast"},{"key":"10.1016\/j.jbc.2025.110985_bib26","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1016\/j.fob.2013.04.002","article-title":"Potential use of potassium efflux-deficient yeast for studying trafficking signals and potassium channel functions","volume":"3","author":"Bernstein","year":"2013","journal-title":"FEBS Open Bio"},{"key":"10.1016\/j.jbc.2025.110985_bib27","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-025-95062-2","article-title":"Atomic-level investigation of KCNJ2 mutations associated with ventricular arrhythmic syndrome phenotypes","volume":"15","author":"Munawar","year":"2025","journal-title":"Sci. Rep."},{"key":"10.1016\/j.jbc.2025.110985_bib28","doi-asserted-by":"crossref","first-page":"1208","DOI":"10.1016\/j.ajhg.2022.05.003","article-title":"A massively parallel assay accurately discriminates between functionally normal and abnormal variants in a hotspot domain of KCNH2","volume":"109","author":"Ng","year":"2022","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.jbc.2025.110985_bib29","article-title":"Mouse ERG K+ channel clones reveal differences in protein trafficking and function","volume":"3","author":"Lin","year":"2014","journal-title":"J. Am. Hear. Assoc."},{"key":"10.1016\/j.jbc.2025.110985_bib30","article-title":"Deep mutational scanning of proteins in mammalian cells","volume":"3","author":"Maes","year":"2023","journal-title":"Cell Rep. Methods"},{"key":"10.1016\/j.jbc.2025.110985_bib31","doi-asserted-by":"crossref","first-page":"650","DOI":"10.3390\/biom9110650","article-title":"Disease associated mutations in KIR proteins linked to aberrant inward rectifier channel trafficking","volume":"9","author":"Zangerl-Plessl","year":"2019","journal-title":"Biomolecules"},{"key":"10.1016\/j.jbc.2025.110985_bib32","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1186\/s13073-019-0683-1","article-title":"Comparative analysis of functional assay evidence use by ClinGen variant curation expert panels","volume":"11","author":"Kanavy","year":"2019","journal-title":"Genome Med."},{"key":"10.1016\/j.jbc.2025.110985_bib33","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCEP.120.009343","article-title":"Long QT syndrome KCNH2 variant induces hERG1a\/1b subunit imbalance in patient-specific induced pluripotent stem cell\u2013derived cardiomyocytes","volume":"14","author":"Feng","year":"2021","journal-title":"Circ. Arrhythmia Electrophysiol."},{"key":"10.1016\/j.jbc.2025.110985_bib34","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0032654","article-title":"Changes in channel trafficking and protein stability caused by LQT2 mutations in the PAS domain of the HERG channel","volume":"7","author":"Harley","year":"2012","journal-title":"PLoS One"},{"key":"10.1016\/j.jbc.2025.110985_bib35","doi-asserted-by":"crossref","first-page":"5535","DOI":"10.1038\/ncomms6535","article-title":"Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome","volume":"5","author":"Anderson","year":"2014","journal-title":"Nat. Commun."},{"key":"10.1016\/j.jbc.2025.110985_bib36","first-page":"637","article-title":"Investigating potassium channels in budding yeast: a genetic sandbox","volume":"209","author":"Mackie","year":"2018","journal-title":"Genetics"},{"key":"10.1016\/j.jbc.2025.110985_bib37","doi-asserted-by":"crossref","first-page":"15432","DOI":"10.1074\/jbc.M901586200","article-title":"Specific and slow inhibition of the Kir2.1 K+ channel by gambogic acid","volume":"284","author":"Zaks-Makhina","year":"2009","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.jbc.2025.110985_bib38","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pcbi.1007749","article-title":"Complementary computational and experimental evaluation of missense variants in the ROMK potassium channel","volume":"16","author":"Ponzoni","year":"2020","journal-title":"PLoS Comput. Biol."},{"key":"10.1016\/j.jbc.2025.110985_bib39","doi-asserted-by":"crossref","first-page":"MSB177908","DOI":"10.15252\/msb.20177908","article-title":"A framework for exhaustively mapping functional missense variants","volume":"13","author":"Weile","year":"2017","journal-title":"Mol. Syst. Biol."},{"key":"10.1016\/j.jbc.2025.110985_bib40","doi-asserted-by":"crossref","first-page":"2180","DOI":"10.1016\/j.hrthm.2020.05.041","article-title":"High-throughput discovery of trafficking-deficient variants in the cardiac potassium channel KV11.1","volume":"17","author":"Kozek","year":"2020","journal-title":"Hear. Rhythm"},{"key":"10.1016\/j.jbc.2025.110985_bib41","doi-asserted-by":"crossref","first-page":"1642","DOI":"10.1038\/s41436-020-0842-1","article-title":"A rapid solubility assay of protein domain misfolding for pathogenicity assessment of rare DNA sequence variants","volume":"22","author":"Anderson","year":"2020","journal-title":"Genet. Med."},{"key":"10.1016\/j.jbc.2025.110985_bib42","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1186\/s13073-024-01340-5","article-title":"High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology","volume":"16","author":"Muhammad","year":"2024","journal-title":"Genome Med."},{"key":"10.1016\/j.jbc.2025.110985_bib43","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGEN.119.002786","article-title":"Deep mutational scan of an SCN5A voltage sensor","volume":"13","author":"Glazer","year":"2020","journal-title":"Circ. Genom Precis Med."},{"key":"10.1016\/j.jbc.2025.110985_bib44","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGEN.123.004377","article-title":"Multiplexed functional assessments of MYH7 variants in human cardiomyocytes","volume":"17","author":"Friedman","year":"2024","journal-title":"Circ. Genom. Precis. Med."},{"key":"10.1016\/j.jbc.2025.110985_bib45","doi-asserted-by":"crossref","first-page":"899","DOI":"10.1002\/ana.25607","article-title":"Spectrum of KV2.1 dysfunction in KCNB1-Associated neurodevelopmental disorders","volume":"86","author":"Kang","year":"2019","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.jbc.2025.110985_bib46","doi-asserted-by":"crossref","first-page":"17000","DOI":"10.1074\/jbc.M212243200","article-title":"Surface expression of inward rectifier potassium channels is controlled by selective golgi export","volume":"278","author":"Stockklausner","year":"2003","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.jbc.2025.110985_bib47","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGEN.118.002345","article-title":"High-throughput functional evaluation of KCNQ1 decrypts variants of unknown significance","volume":"11","author":"Vanoye","year":"2018","journal-title":"Circ. Genom. Precis. Med."},{"key":"10.1016\/j.jbc.2025.110985_bib48","doi-asserted-by":"crossref","first-page":"2983","DOI":"10.1016\/j.hrthm.2025.03.2005","article-title":"The role of iPSC research for insight in inherited arrhythmia conditions","volume":"22","author":"Josvai","year":"2025","journal-title":"Hear. Rhythm"},{"key":"10.1016\/j.jbc.2025.110985_bib49","doi-asserted-by":"crossref","first-page":"H1611","DOI":"10.1152\/ajpheart.00481.2015","article-title":"IK1-enhanced human-induced pluripotent stem cell-derived cardiomyocytes: an improved cardiomyocyte model to investigate inherited arrhythmia syndromes","volume":"310","author":"Vaidyanathan","year":"2016","journal-title":"Am. J. Physiol.Heart Circ. Physiol."},{"key":"10.1016\/j.jbc.2025.110985_bib50","article-title":"investigation of missense mutations in KCNJ2 gene: a computational approach","volume":"8","author":"Verma","year":"2015","journal-title":"Res. J. Pharm. Technol."},{"key":"10.1016\/j.jbc.2025.110985_bib51","doi-asserted-by":"crossref","first-page":"1805","DOI":"10.1093\/europace\/eut160","article-title":"Cardiac characteristics and long-term outcome in Andersen\u2013Tawil syndrome patients related to KCNJ2 mutation","volume":"15","author":"Delannoy","year":"2013","journal-title":"Europace"},{"key":"10.1016\/j.jbc.2025.110985_bib52","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1016\/j.hrthm.2006.10.025","article-title":"KCNJ2 mutations in arrhythmia patients referred for LQT testing: A mutation T305A with novel effect on rectification properties","volume":"4","author":"Eckhardt","year":"2007","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.jbc.2025.110985_bib53","doi-asserted-by":"crossref","first-page":"51779","DOI":"10.1074\/jbc.M310278200","article-title":"Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome\u2217","volume":"278","author":"Bendahhou","year":"2003","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.jbc.2025.110985_bib54","first-page":"344","article-title":"Phenotype variability in patients carrying KCNJ2 mutations","volume":"5","author":"Kimura","year":"2012","journal-title":"Circ.: Cardiovasc. Genet."},{"key":"10.1016\/j.jbc.2025.110985_bib55","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1186\/s12881-017-0472-x","article-title":"Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients","volume":"18","author":"Scheiper","year":"2017","journal-title":"BMC M\u00e9d. Genet."},{"key":"10.1016\/j.jbc.2025.110985_bib56","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1002\/humu.9483","article-title":"Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome","volume":"28","author":"Haruna","year":"2007","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.jbc.2025.110985_bib57","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1016\/S0022-2828(03)00046-4","article-title":"Function, subcellular localization and assembly of a novel mutation of KCNJ2 in Andersen\u2019s syndrome","volume":"35","author":"Hosaka","year":"2003","journal-title":"J. Mol. Cell. Cardiol."},{"key":"10.1016\/j.jbc.2025.110985_bib58","first-page":"51","article-title":"Biophysical and molecular characterization of a novel de novo KCNJ2 mutation associated with andersen-tawil syndrome and catecholaminergic polymorphic ventricular tachycardia mimicry","volume":"4","author":"Barajas-Martinez","year":"2010","journal-title":"Circ.: Cardiovasc. Genet."},{"key":"10.1016\/j.jbc.2025.110985_bib59","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1093\/cvr\/cvr329","article-title":"A novel gain-of-function KCNJ2 mutation associated with short-QT syndrome impairs inward rectification of Kir2.1 currents","volume":"93","author":"Hattori","year":"2012","journal-title":"Cardiovasc. Res."},{"key":"10.1016\/j.jbc.2025.110985_bib60","doi-asserted-by":"crossref","first-page":"672","DOI":"10.3389\/fphar.2020.00672","article-title":"Andersen\u2013Tawil syndrome is associated with impaired PIP2 regulation of the potassium channel Kir2.1","volume":"11","author":"Handklo-Jamal","year":"2020","journal-title":"Front. Pharmacol."},{"key":"10.1016\/j.jbc.2025.110985_bib61","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1113\/jphysiol.2004.081620","article-title":"In vivo and in vitro functional characterization of Andersen\u2019s syndrome mutations","volume":"565","author":"Bendahhou","year":"2005","journal-title":"J. Physiol."},{"key":"10.1016\/j.jbc.2025.110985_bib62","doi-asserted-by":"crossref","DOI":"10.1096\/fj.202401567R","article-title":"Biochemical, biophysical, and structural investigations of two mutants (C154Y and R312H) of the human Kir2.1 channel involved in the Andersen-Tawil syndrome","volume":"38","author":"Zuniga","year":"2024","journal-title":"FASEB J"}],"container-title":["Journal of Biological Chemistry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0021925825028376?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0021925825028376?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T11:10:31Z","timestamp":1773918631000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0021925825028376"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":62,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["S0021925825028376"],"URL":"https:\/\/doi.org\/10.1016\/j.jbc.2025.110985","relation":{},"ISSN":["0021-9258"],"issn-type":[{"value":"0021-9258","type":"print"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Large-scale functional assessment of variants of the potassium channel Kir2.1: Clinical and comparative insights","name":"articletitle","label":"Article Title"},{"value":"Journal of Biological Chemistry","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jbc.2025.110985","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Published by Elsevier Inc on behalf of American Society for Biochemistry and Molecular Biology.","name":"copyright","label":"Copyright"}],"article-number":"110985"}}