{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T16:24:54Z","timestamp":1783095894652,"version":"3.54.6"},"reference-count":85,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100017592","name":"Key Science and Technology Program of Shaanxi Province","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100017592","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012542","name":"Sichuan Province Science and Technology Support Program","doi-asserted-by":"publisher","award":["2025ZNSFSC0702"],"award-info":[{"award-number":["2025ZNSFSC0702"]}],"id":[{"id":"10.13039\/100012542","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012542","name":"Sichuan Province Science and Technology Support Program","doi-asserted-by":"publisher","award":["2022YFS0610"],"award-info":[{"award-number":["2022YFS0610"]}],"id":[{"id":"10.13039\/100012542","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Mutation Research - Reviews in Mutation Research"],"published-print":{"date-parts":[[2026,7]]},"DOI":"10.1016\/j.mrrev.2026.108592","type":"journal-article","created":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T11:56:26Z","timestamp":1778759786000},"page":"108592","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["Mutations in a-kinase anchoring protein 9\u00a0disrupt \u03b2-adrenergic modulation of delayed rectifier potassium current in long QT syndrome"],"prefix":"10.1016","volume":"798","author":[{"given":"Huan","family":"Yuan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin","family":"Lu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hu","family":"Wen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian","family":"Lu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anbi","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5019-4232","authenticated-orcid":false,"given":"Miaoling","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"19","key":"10.1016\/j.mrrev.2026.108592_bib1","doi-asserted-by":"crossref","first-page":"1866","DOI":"10.1056\/NEJMoa022147","article-title":"Risk stratification in the long-QT syndrome","volume":"348","author":"Priori","year":"2003","journal-title":"N. Engl. J. Med"},{"issue":"15","key":"10.1016\/j.mrrev.2026.108592_bib2","doi-asserted-by":"crossref","first-page":"1232","DOI":"10.1053\/euhj.2000.2222","article-title":"Congenital and acquired long QT syndrome","volume":"21","author":"Camm","year":"2000","journal-title":"Eur. Heart J."},{"key":"10.1016\/j.mrrev.2026.108592_bib3","doi-asserted-by":"crossref","first-page":"1548","DOI":"10.3389\/fphys.2018.01548","article-title":"Caveolin-3 Microdomain: Arrhythmia Implications for Potassium Inward Rectifier and Cardiac Sodium Channel","volume":"9","author":"Vaidyanathan","year":"2018","journal-title":"Front Physiol."},{"issue":"52","key":"10.1016\/j.mrrev.2026.108592_bib4","doi-asserted-by":"crossref","first-page":"20990","DOI":"10.1073\/pnas.0710527105","article-title":"Mutation of an A-kinase-anchoring protein causes long-QT syndrome","volume":"104","author":"Chen","year":"2007","journal-title":"Proc. Natl. Acad. Sci. USA"},{"issue":"1","key":"10.1016\/j.mrrev.2026.108592_bib5","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/j.jacc.2010.07.038","article-title":"Risk for life-threatening cardiac events in patients with genotype-confirmed long-QT syndrome and normal-range corrected QT intervals","volume":"57","author":"Goldenberg","year":"2011","journal-title":"J. Am. Coll. Cardiol."},{"issue":"7","key":"10.1016\/j.mrrev.2026.108592_bib6","doi-asserted-by":"crossref","first-page":"1419","DOI":"10.1007\/s00246-019-02151-x","article-title":"Long QT Syndrome: Genetics and Future Perspective","volume":"40","author":"Wallace","year":"2019","journal-title":"Pedia Cardiol."},{"issue":"1","key":"10.1016\/j.mrrev.2026.108592_bib7","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1161\/CIRCRESAHA.110.224600","article-title":"Phenotypic manifestations of mutations in genes encoding subunits of cardiac potassium channels","volume":"109","author":"Shimizu","year":"2011","journal-title":"Circ. Res"},{"issue":"6604","key":"10.1016\/j.mrrev.2026.108592_bib8","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1038\/384080a0","article-title":"Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel","volume":"384","author":"Sanguinetti","year":"1996","journal-title":"Nature"},{"issue":"6","key":"10.1016\/j.mrrev.2026.108592_bib9","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1111\/j.1540-8167.2000.tb00035.x","article-title":"Long QT syndrome: ionic basis and arrhythmia mechanism in long QT syndrome type 1. J","volume":"11","author":"Sanguinetti","year":"2000","journal-title":"Cardiovasc Electro"},{"issue":"5","key":"10.1016\/j.mrrev.2026.108592_bib10","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGENETICS.117.001754","article-title":"Predicting the Functional Impact of KCNQ1 Variants of Unknown Significance","volume":"10","author":"Li","year":"2017","journal-title":"Circ. Cardiovasc Genet"},{"issue":"3","key":"10.1016\/j.mrrev.2026.108592_bib11","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1016\/j.jacc.2013.04.044","article-title":"Impact of genetics on the clinical management of channelopathies","volume":"62","author":"Schwartz","year":"2013","journal-title":"J. Am. Coll. Cardiol."},{"issue":"3","key":"10.1016\/j.mrrev.2026.108592_bib12","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1016\/j.cardiores.2005.04.003","article-title":"Sodium channels as macromolecular complexes: implications for inherited arrhythmia syndromes","volume":"67","author":"Meadows","year":"2005","journal-title":"Cardiovasc Res"},{"issue":"4","key":"10.1016\/j.mrrev.2026.108592_bib13","doi-asserted-by":"crossref","first-page":"1097","DOI":"10.1007\/s12551-018-0442-3","article-title":"Role of ion channels in heart failure and channelopathies","volume":"10","author":"Rahm","year":"2018","journal-title":"Biophys. Rev."},{"issue":"1","key":"10.1016\/j.mrrev.2026.108592_bib14","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1038\/s41421-024-00738-0","article-title":"Ion channel traffic jams: the significance of trafficking deficiency in long QT syndrome","volume":"11","author":"Mondejar-Parreno","year":"2025","journal-title":"Cell Discov."},{"issue":"1","key":"10.1016\/j.mrrev.2026.108592_bib15","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1152\/physrev.00008.2016","article-title":"Molecular Pathophysiology of Congenital Long QT Syndrome","volume":"97","author":"Bohnen","year":"2017","journal-title":"Physiol. Rev."},{"issue":"18","key":"10.1016\/j.mrrev.2026.108592_bib16","doi-asserted-by":"crossref","first-page":"3277","DOI":"10.1016\/j.jmb.2013.06.014","article-title":"Protein kinase A and phosphodiesterase-4D3 binding to coding polymorphisms of cardiac muscle anchoring protein (mAKAP)","volume":"425","author":"Rababa'h","year":"2013","journal-title":"J. Mol. Biol."},{"issue":"8","key":"10.1016\/j.mrrev.2026.108592_bib17","doi-asserted-by":"crossref","first-page":"2018","DOI":"10.1172\/JCI25537","article-title":"Long QT syndrome: from channels to cardiac arrhythmias","volume":"115","author":"Moss","year":"2005","journal-title":"J. Clin. Invest"},{"issue":"9","key":"10.1016\/j.mrrev.2026.108592_bib18","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1161\/CIRCULATIONAHA.112.001216","article-title":"Calmodulin mutations associated with recurrent cardiac arrest in infants","volume":"127","author":"Crotti","year":"2013","journal-title":"Circulation"},{"issue":"18","key":"10.1016\/j.mrrev.2026.108592_bib19","doi-asserted-by":"crossref","first-page":"1752","DOI":"10.1161\/CIRCULATIONAHA.109.863076","article-title":"Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants","volume":"120","author":"Kapa","year":"2009","journal-title":"Circulation"},{"issue":"8","key":"10.1016\/j.mrrev.2026.108592_bib20","doi-asserted-by":"crossref","DOI":"10.1093\/europace\/euad203","article-title":"Risk stratification of sudden cardiac death: a review","volume":"25","author":"Tfelt-Hansen","year":"2023","journal-title":"Europace"},{"issue":"1","key":"10.1016\/j.mrrev.2026.108592_bib21","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1536\/ihj.16-133","article-title":"Gene-Targeted Analysis of Clinically Diagnosed Long QT Russian Families","volume":"58","author":"Maltese","year":"2017","journal-title":"Int Heart J."},{"key":"10.1016\/j.mrrev.2026.108592_bib22","series-title":"Long QT Syndrome Overview, in GeneReviews((R))","author":"Groffen","year":"1993"},{"issue":"10","key":"10.1016\/j.mrrev.2026.108592_bib23","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1016\/j.cpcardiol.2013.08.001","article-title":"Genotype- and phenotype-guided management of congenital long QT syndrome","volume":"38","author":"Giudicessi","year":"2013","journal-title":"Curr. Probl. Cardiol."},{"issue":"2","key":"10.1016\/j.mrrev.2026.108592_bib24","first-page":"171","article-title":"Novel AKAP9 mutation and long QT syndrome in a patient with torsades des pointes","volume":"56","author":"Bottigliero","year":"2019","journal-title":"J. Inter. Card. Electro"},{"issue":"11","key":"10.1016\/j.mrrev.2026.108592_bib25","doi-asserted-by":"crossref","first-page":"1503","DOI":"10.1016\/j.mayocp.2016.06.031","article-title":"Does Sudden Unexplained Nocturnal Death Syndrome Remain the Autopsy-Negative Disorder: A Gross, Microscopic, and Molecular Autopsy Investigation in Southern China","volume":"91","author":"Zhang","year":"2016","journal-title":"Mayo Clin. Proc."},{"key":"10.1016\/j.mrrev.2026.108592_bib26","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/j.forsciint.2014.06.007","article-title":"The role of clinical, genetic and segregation evaluation in sudden infant death","volume":"242","author":"Campuzano","year":"2014","journal-title":"Forensic Sci. Int"},{"issue":"7","key":"10.1016\/j.mrrev.2026.108592_bib27","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0133037","article-title":"Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: the complexity of clinical decision-making in brugada syndrome","volume":"10","author":"Allegue","year":"2015","journal-title":"PLoS One"},{"key":"10.1016\/j.mrrev.2026.108592_bib28","first-page":"119","article-title":"Brugada syndrome & AKAP9: Reconciling clinical findings with diagnostic uncertainty","volume":"57","author":"Garris","year":"2019","journal-title":"J. Electro"},{"issue":"4","key":"10.1016\/j.mrrev.2026.108592_bib29","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.1007\/s00414-018-1775-y","article-title":"Exome analysis in 34 sudden unexplained death (SUD) victims mainly identified variants in channelopathy-associated genes","volume":"132","author":"Neubauer","year":"2018","journal-title":"Int J. Leg. Med"},{"key":"10.1016\/j.mrrev.2026.108592_bib30","doi-asserted-by":"crossref","DOI":"10.1016\/j.jflm.2020.101896","article-title":"Genetic analysis of Yunnan sudden unexplained death by whole genome sequencing in Southwest of China","volume":"70","author":"Li","year":"2020","journal-title":"J. Forensic Leg. Med"},{"issue":"1","key":"10.1016\/j.mrrev.2026.108592_bib31","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1007\/s00059-019-04883-1","article-title":"Multiallelic rare variants support an oligogenic origin of sudden cardiac death in the young","volume":"46","author":"Jaouadi","year":"2021","journal-title":"Herz"},{"issue":"6","key":"10.1016\/j.mrrev.2026.108592_bib32","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1161\/CIRCULATIONAHA.119.043132","article-title":"An international, multicentered, evidence-based reappraisal of genes reported to cause congenital long QT Syndrome","volume":"141","author":"Adler","year":"2020","journal-title":"Circulation"},{"key":"10.1016\/j.mrrev.2026.108592_bib33","doi-asserted-by":"crossref","first-page":"397","DOI":"10.3389\/fimmu.2018.00397","article-title":"Centrosome- and golgi-localized protein kinase n-associated protein serves as a docking platform for protein kinase a signaling and microtubule nucleation in migrating T-Cells","volume":"9","author":"Ong","year":"2018","journal-title":"Front Immunol."},{"issue":"35","key":"10.1016\/j.mrrev.2026.108592_bib34","doi-asserted-by":"crossref","first-page":"29815","DOI":"10.1074\/jbc.M112.380568","article-title":"The A-kinase anchoring protein Yotiao facilitates complex formation between adenylyl cyclase type 9 and the IKs potassium channel in heart","volume":"287","author":"Li","year":"2012","journal-title":"J. Biol. Chem."},{"issue":"4","key":"10.1016\/j.mrrev.2026.108592_bib35","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1161\/CIRCRESAHA.111.262899","article-title":"Anchoring proteins as regulators of signaling pathways","volume":"111","author":"Perino","year":"2012","journal-title":"Circ. Res"},{"issue":"2","key":"10.1016\/j.mrrev.2026.108592_bib36","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1161\/CIRCRESAHA.107.167809","article-title":"AKAP150 is required for stuttering persistent Ca2+ sparklets and angiotensin II-induced hypertension","volume":"102","author":"Navedo","year":"2008","journal-title":"Circ. Res"},{"issue":"4","key":"10.1016\/j.mrrev.2026.108592_bib37","doi-asserted-by":"crossref","first-page":"748","DOI":"10.1161\/CIRCRESAHA.109.213363","article-title":"Increased coupled gating of L-type Ca2+ channels during hypertension and Timothy syndrome","volume":"106","author":"Navedo","year":"2010","journal-title":"Circ. Res"},{"issue":"20","key":"10.1016\/j.mrrev.2026.108592_bib38","doi-asserted-by":"crossref","first-page":"8461","DOI":"10.1073\/pnas.0610393104","article-title":"Gene-trapped mouse embryonic stem cell-derived cardiac myocytes and human genetics implicate AKAP10 in heart rhythm regulation","volume":"104","author":"Tingley","year":"2007","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.mrrev.2026.108592_bib39","doi-asserted-by":"crossref","DOI":"10.1016\/j.cellsig.2022.110569","article-title":"Interaction between A-kinase anchoring protein 5 and protein kinase A mediates CaMKII\/HDAC signaling to inhibit cardiomyocyte hypertrophy after hypoxic reoxygenation","volume":"103","author":"Zhang","year":"2023","journal-title":"Cell Signal"},{"key":"10.1016\/j.mrrev.2026.108592_bib40","doi-asserted-by":"crossref","DOI":"10.1016\/j.scr.2022.102966","article-title":"Reprogramming of a human induced pluripotent stem cell line (ZZUSAHi004-A) from a long QT syndrome patient with a heterozygous AKAP9 (c. 4021C > A) mutant","volume":"65","author":"Ding","year":"2022","journal-title":"Stem Cell Res"},{"issue":"5","key":"10.1016\/j.mrrev.2026.108592_bib41","doi-asserted-by":"crossref","DOI":"10.1097\/FJC.0b013e318232c80c","article-title":"A-kinase anchoring protein 9 and IKs channel regulation","volume":"58","author":"Chen","year":"2011","journal-title":"J. Cardiovasc Pharm."},{"issue":"11","key":"10.1016\/j.mrrev.2026.108592_bib42","doi-asserted-by":"crossref","DOI":"10.3390\/genes13112167","article-title":"AKAP9-Related Channelopathy: Novel Pathogenic Variant and Review of the Literature","volume":"13","author":"Huynh","year":"2022","journal-title":"Genes (Basel)"},{"key":"10.1016\/j.mrrev.2026.108592_bib43","doi-asserted-by":"crossref","DOI":"10.1016\/j.bbrc.2024.149947","article-title":"A mutation in the cardiac KV7.1 channel possibly disrupts interaction with Yotiao protein","volume":"714","author":"Li","year":"2024","journal-title":"Biochem Biophys. Res Commun."},{"issue":"42","key":"10.1016\/j.mrrev.2026.108592_bib44","doi-asserted-by":"crossref","first-page":"17099","DOI":"10.1073\/pnas.1215219109","article-title":"Cardiomyocytes from AKAP7 knockout mice respond normally to adrenergic stimulation","volume":"109","author":"Jones","year":"2012","journal-title":"Proc. Natl. Acad. Sci. USA"},{"issue":"3","key":"10.1016\/j.mrrev.2026.108592_bib45","doi-asserted-by":"crossref","DOI":"10.3390\/cells12030436","article-title":"A-Kinase Anchoring Proteins in Cardiac Myocytes and Their Roles in Regulating Calcium Cycling","volume":"12","author":"Subramanian","year":"2023","journal-title":"Cells"},{"key":"10.1016\/j.mrrev.2026.108592_bib46","doi-asserted-by":"crossref","DOI":"10.1016\/j.ceca.2024.102906","article-title":"The A-kinase anchoring protein Yotiao decrease the ER calcium content by inhibiting the store operated calcium entry","volume":"121","author":"Wang","year":"2024","journal-title":"Cell Calcium"},{"issue":"3","key":"10.1016\/j.mrrev.2026.108592_bib47","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1093\/emboj\/19.3.332","article-title":"A recessive C-terminal Jervell and Lange-Nielsen mutation of the KCNQ1 channel impairs subunit assembly","volume":"19","author":"Schmitt","year":"2000","journal-title":"EMBO J."},{"issue":"5","key":"10.1016\/j.mrrev.2026.108592_bib48","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1016\/j.joa.2015.12.006","article-title":"Molecular pathogenesis of long QT syndrome type 1","volume":"32","author":"Wu","year":"2016","journal-title":"J. Arrhythm."},{"issue":"5554","key":"10.1016\/j.mrrev.2026.108592_bib49","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1126\/science.1066843","article-title":"Requirement of a macromolecular signaling complex for beta adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel","volume":"295","author":"Marx","year":"2002","journal-title":"Science"},{"issue":"2","key":"10.1016\/j.mrrev.2026.108592_bib50","doi-asserted-by":"crossref","DOI":"10.3390\/ijms24021350","article-title":"Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome KCNQ1 Variants","volume":"24","author":"Rinne","year":"2023","journal-title":"Int J. Mol. Sci."},{"issue":"36","key":"10.1016\/j.mrrev.2026.108592_bib51","doi-asserted-by":"crossref","first-page":"3751","DOI":"10.1093\/eurheartj\/ehae476","article-title":"KCNQ1 suppression-replacement gene therapy in transgenic rabbits with type 1 long QT syndrome","volume":"45","author":"Bains","year":"2024","journal-title":"Eur. Heart J."},{"issue":"Pt 18","key":"10.1016\/j.mrrev.2026.108592_bib52","first-page":"3943","article-title":"Long QT mutations at the interface between KCNQ1 helix C and KCNE1 disrupt I(KS) regulation by PKA and PIP(2)","volume":"127","author":"Dvir","year":"2014","journal-title":"J. Cell Sci."},{"issue":"11","key":"10.1016\/j.mrrev.2026.108592_bib53","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1038\/s41422-025-01182-9","article-title":"Secondary structure transitions and dual PIP2 binding define cardiac KCNQ1-KCNE1 channel gating","volume":"35","author":"Zhong","year":"2025","journal-title":"Cell Res"},{"key":"10.1016\/j.mrrev.2026.108592_bib54","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1016\/j.yjmcc.2014.03.019","article-title":"A590T mutation in KCNQ1C-terminal helix D decreases IKs channel trafficking and function but not Yotiao interaction","volume":"72","author":"Kinoshita","year":"2014","journal-title":"J. Mol. Cell Cardiol."},{"issue":"2","key":"10.1016\/j.mrrev.2026.108592_bib55","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1161\/CIRCRESAHA.111.249482","article-title":"Dominant-negative control of cAMP-dependent IKs upregulation in human long-QT syndrome type 1","volume":"110","author":"Heijman","year":"2012","journal-title":"Circ. Res"},{"issue":"5","key":"10.1016\/j.mrrev.2026.108592_bib56","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1161\/CIRCGENETICS.113.000580","article-title":"AKAP9 is a genetic modifier of congenital long-QT syndrome type 1","volume":"7","author":"de Villiers","year":"2014","journal-title":"Circ. Cardiovasc Genet"},{"issue":"12","key":"10.1016\/j.mrrev.2026.108592_bib57","doi-asserted-by":"crossref","first-page":"2899","DOI":"10.12998\/wjcc.v9.i12.2899","article-title":"Torsades de pointes episode in a woman with high-grade fever and inflammatory activation: A case report","volume":"9","author":"Qiu","year":"2021","journal-title":"World J. Clin. Cases"},{"key":"10.1016\/j.mrrev.2026.108592_bib58","article-title":"Frequent torsades de pointes in a child with novel AKAP9 mutation: A case report and literature review","volume":"10","author":"Wang","year":"2022","journal-title":"Front Pedia"},{"key":"10.1016\/j.mrrev.2026.108592_bib59","doi-asserted-by":"crossref","DOI":"10.3389\/fcvm.2021.608592","article-title":"Territory-Wide Chinese Cohort of Long QT syndrome: random survival forest and cox analyses","volume":"8","author":"Tse","year":"2021","journal-title":"Front Cardiovasc Med"},{"issue":"4","key":"10.1016\/j.mrrev.2026.108592_bib60","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1002\/ana.24596","article-title":"Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy","volume":"79","author":"Bagnall","year":"2016","journal-title":"Ann. Neurol."},{"issue":"4","key":"10.1016\/j.mrrev.2026.108592_bib61","first-page":"213","article-title":"Early repolarization syndrome: A case report focusing on dynamic electrocardiographic changes before ventricular arrhythmias and genetic analysis","volume":"1","author":"Tan","year":"2015","journal-title":"Heart Case Rep."},{"issue":"10","key":"10.1016\/j.mrrev.2026.108592_bib62","doi-asserted-by":"crossref","first-page":"894","DOI":"10.1093\/europace\/eul083","article-title":"Effect of physical training on ventricular repolarization in type 1 long QT syndrome: a pilot study in asymptomatic carriers of the G589D KCNQ1 mutation","volume":"8","author":"Perhonen","year":"2006","journal-title":"Europace"},{"issue":"7","key":"10.1016\/j.mrrev.2026.108592_bib63","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1161\/CIRCRESAHA.124.325009","article-title":"Targeting the I(Ks) Channel PKA Phosphorylation Axis to Restore Its Function in High-Risk LQT1 Variants","volume":"135","author":"Zhong","year":"2024","journal-title":"Circ. Res"},{"issue":"4","key":"10.1016\/j.mrrev.2026.108592_bib64","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1161\/CIRCRESAHA.110.224592","article-title":"Defining a new paradigm for human arrhythmia syndromes: phenotypic manifestations of gene mutations in ion channel- and transporter-associated proteins","volume":"107","author":"Ackerman","year":"2010","journal-title":"Circ. Res"},{"key":"10.1016\/j.mrrev.2026.108592_bib65","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1146\/annurev.pharmtox.42.083101.135801","article-title":"AKAP mediated signal transduction","volume":"42","author":"Michel","year":"2002","journal-title":"Annu Rev. Pharm. Toxicol."},{"issue":"36","key":"10.1016\/j.mrrev.2026.108592_bib66","doi-asserted-by":"crossref","first-page":"31347","DOI":"10.1074\/jbc.M505191200","article-title":"Phosphorylation of the A-kinase-anchoring protein Yotiao contributes to protein kinase A regulation of a heart potassium channel","volume":"280","author":"Chen","year":"2005","journal-title":"J. Biol. Chem."},{"issue":"7","key":"10.1016\/j.mrrev.2026.108592_bib67","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1016\/j.ejcb.2006.03.002","article-title":"Dual roles of the A kinase-anchoring protein Yotiao in the modulation of a cardiac potassium channel: a passive adaptor versus an active regulator","volume":"85","author":"Chen","year":"2006","journal-title":"Eur. J. Cell Biol."},{"key":"10.1016\/j.mrrev.2026.108592_bib68","article-title":"Brugada syndrome in a patient with AKAP9 mutation: case report and review of the literature","volume":"86","author":"Zhou","year":"2024","journal-title":"J. Electro"},{"issue":"10","key":"10.1016\/j.mrrev.2026.108592_bib69","doi-asserted-by":"crossref","first-page":"pgae452","DOI":"10.1093\/pnasnexus\/pgae452","article-title":"The fully activated open state of KCNQ1controls the cardiac \"fight-or-flight\" response","volume":"3","author":"Hou","year":"2024","journal-title":"PNAS Nexus"},{"issue":"2","key":"10.1016\/j.mrrev.2026.108592_bib70","doi-asserted-by":"crossref","first-page":"562","DOI":"10.1016\/S0735-1097(00)01124-4","article-title":"A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics","volume":"37","author":"Piippo","year":"2001","journal-title":"J. Am. Coll. Cardiol."},{"issue":"10","key":"10.1016\/j.mrrev.2026.108592_bib71","first-page":"1178","article-title":"Spectrum of mutations in long-QT syndrome genes","volume":"102","author":"Splawski","year":"2000","journal-title":"KVLQT1 HERG SCN5A KCNE1 KCNE2. Circ."},{"issue":"15","key":"10.1016\/j.mrrev.2026.108592_bib72","doi-asserted-by":"crossref","first-page":"1834","DOI":"10.1161\/01.CIR.0000125524.34234.13","article-title":"Compound mutations: a common cause of severe long-QT syndrome","volume":"109","author":"Westenskow","year":"2004","journal-title":"Circulation"},{"issue":"9","key":"10.1016\/j.mrrev.2026.108592_bib73","doi-asserted-by":"crossref","first-page":"2778","DOI":"10.1161\/01.CIR.96.9.2778","article-title":"KVLQT1C-terminal missense mutation causes a forme fruste long-QT syndrome","volume":"96","author":"Donger","year":"1997","journal-title":"Circulation"},{"issue":"5","key":"10.1016\/j.mrrev.2026.108592_bib74","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1159\/000530513","article-title":"Clinical heterogeneity in patients with long QT syndrome and segregation of single nucleotide variants and clinical symptoms in 17 affected families","volume":"14","author":"Bora","year":"2023","journal-title":"Mol. Syndr."},{"issue":"7","key":"10.1016\/j.mrrev.2026.108592_bib75","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0130329","article-title":"Exome analyses of long QT syndrome reveal candidate pathogenic mutations in calmodulin-interacting genes","volume":"10","author":"Shigemizu","year":"2015","journal-title":"PLoS One"},{"issue":"7","key":"10.1016\/j.mrrev.2026.108592_bib76","doi-asserted-by":"crossref","first-page":"1014","DOI":"10.1038\/s41431-018-0119-1","article-title":"Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice","volume":"26","author":"Mates","year":"2018","journal-title":"Eur. J. Hum. Genet"},{"key":"10.1016\/j.mrrev.2026.108592_bib77","article-title":"Retraction: territory-wide Chinese cohort of long QT syndrome: random survival forest and Cox analyses","volume":"11","author":"Frontiers Editorial","year":"2024","journal-title":"Front Cardiovasc Med"},{"issue":"4","key":"10.1016\/j.mrrev.2026.108592_bib78","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1007\/s00414-014-1105-y","article-title":"Next-generation sequencing of 34 genes in sudden unexplained death victims in forensics and in patients with channelopathic cardiac diseases","volume":"129","author":"Hertz","year":"2015","journal-title":"Int J. Leg. Med"},{"issue":"1","key":"10.1016\/j.mrrev.2026.108592_bib79","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1186\/2040-2392-5-5","article-title":"Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case\/control population","volume":"5","author":"Matsunami","year":"2014","journal-title":"Mol. Autism"},{"issue":"7","key":"10.1016\/j.mrrev.2026.108592_bib80","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0181842","article-title":"Targeted next-generation sequencing detects novel gene-phenotype associations and expands the mutational spectrum in cardiomyopathies","volume":"12","author":"Forleo","year":"2017","journal-title":"PLoS One"},{"issue":"6","key":"10.1016\/j.mrrev.2026.108592_bib81","doi-asserted-by":"crossref","first-page":"894","DOI":"10.1016\/j.amjcard.2015.06.030","article-title":"Diagnostic approach to unexplained cardiac arrest (from the fivi-gen study)","volume":"116","author":"Jimenez-Jaimez","year":"2015","journal-title":"Am. J. Cardiol."},{"key":"10.1016\/j.mrrev.2026.108592_bib82","doi-asserted-by":"crossref","DOI":"10.1155\/2018\/4862480","article-title":"Atrial structural remodeling gene variants in patients with atrial fibrillation","volume":"2018","author":"Donate Puertas","year":"2018","journal-title":"Biomed. Res Int"},{"issue":"1","key":"10.1016\/j.mrrev.2026.108592_bib83","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1038\/s41431-019-0500-8","article-title":"The yield of postmortem genetic testing in sudden death cases with structural findings at autopsy","volume":"28","author":"Lahrouchi","year":"2020","journal-title":"Eur. J. Hum. Genet"},{"key":"10.1016\/j.mrrev.2026.108592_bib84","doi-asserted-by":"crossref","first-page":"72","DOI":"10.3389\/fcvm.2017.00072","article-title":"Molecular autopsy for sudden death in the young: is data aggregation the key?","volume":"4","author":"Rueda","year":"2017","journal-title":"Front Cardiovasc Med"},{"issue":"6","key":"10.1016\/j.mrrev.2026.108592_bib85","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1007\/s12471-019-1250-5","article-title":"Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance","volume":"27","author":"van Lint","year":"2019","journal-title":"Neth. Heart J."}],"container-title":["Mutation Research - Reviews in Mutation Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1383574226000086?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1383574226000086?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T16:02:19Z","timestamp":1783094539000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1383574226000086"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7]]},"references-count":85,"alternative-id":["S1383574226000086"],"URL":"https:\/\/doi.org\/10.1016\/j.mrrev.2026.108592","relation":{},"ISSN":["1383-5742"],"issn-type":[{"value":"1383-5742","type":"print"}],"subject":[],"published":{"date-parts":[[2026,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mutations in a-kinase anchoring protein 9\u00a0disrupt \u03b2-adrenergic modulation of delayed rectifier potassium current in long QT syndrome","name":"articletitle","label":"Article Title"},{"value":"Mutation Research - Reviews in Mutation Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.mrrev.2026.108592","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 Elsevier B.V. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"108592"}}