Genomes and Genes
Gene Symbol: KCNV2
Description: potassium voltage-gated channel modifier subfamily V member 2
Alias: KV11.1, Kv8.2, RCD3B, potassium voltage-gated channel subfamily V member 2, potassium channel, subfamily V, member 2, potassium channel, voltage gated modifier subfamily V, member 2, voltage-gated potassium channel subunit Kv8.2
- Khan A, Alrashed M, Alkuraya F. 'Cone dystrophy with supranormal rod response' in children. Br J Ophthalmol. 2012;96:422-6 pubmed publisher..of children with 'cone dystrophy with supranormal rod response,' a distinct retinal disorder from recessive KCNV2 mutations. Retrospective case series...
- Sergouniotis P, Holder G, Robson A, Michaelides M, Webster A, Moore A. High-resolution optical coherence tomography imaging in KCNV2 retinopathy. Br J Ophthalmol. 2012;96:213-7 pubmed publisher..supernormal rod electroretinogram', a recessive childhood onset retinal dystrophy consequent upon mutation in the KCNV2 gene...
- Collison F, Park J, Fishman G, Stone E, McAnany J. Two-color pupillometry in KCNV2 retinopathy. Doc Ophthalmol. 2019;: pubmed publisherTo investigate receptor and post-receptor function in KCNV2 retinopathy [cone dystrophy with supernormal rod electroretinogram (ERG)], using the pupillary light reflex (PLR) and the ERG...
- Munoz C, Pakladok T, Almilaji A, Elvira B, Decher N, Shumilina E, et al. Up-regulation of Kir2.1 (KCNJ2) by the serum & glucocorticoid inducible SGK3. Cell Physiol Biochem. 2014;33:491-500 pubmed publisher..1 and SGK3 as in oocytes expressing K(ir)2.1 alone, suggesting that SGK3 influences channel insertion into rather than channel retrieval from the cell membrane. SGK3 is a novel regulator of K(ir)2.1. ..
- Calloe K, Rognant S, Friis S, Shaughnessy C, Klaerke D, Trachsel D. Compounds commonly used in equine medicine inhibits the voltage-gated potassium channel Kv11.1. Res Vet Sci. 2019;123:239-246 pubmed publisher..1 current at clinically relevant drug concentrations. The results suggest that drug interaction with Kv11.1 can occur in horses and that some drugs potentially may induce repolarization disorders in horses. ..
- Banderali U, Belke D, Singh A, Jayanthan A, Giles W, Narendran A. Curcumin blocks Kv11.1 (erg) potassium current and slows proliferation in the infant acute monocytic leukemia cell line THP-1. Cell Physiol Biochem. 2011;28:1169-80 pubmed publisher..We propose that the inhibition of Kv11.1 activity by curcumin may lead to interference with leukemic cell physiology and consequently the suppression of survival and proliferation of AML cells. ..
- Al Eitan L, Al Dalalah I, Elshammari A, Khreisat W, Almasri A. The Impact of Potassium Channel Gene Polymorphisms on Antiepileptic Drug Responsiveness in Arab Patients with Epilepsy. J Pers Med. 2018;8: pubmed publisherThis study aims to investigate the effects of the three potassium channel genes KCNA1, KCNA2, and KCNV2 on increased susceptibility to epilepsy as well as on responsiveness to antiepileptic drugs (AEDs)...
- Gasparoli L, D Amico M, Masselli M, Pillozzi S, Caves R, Khuwaileh R, et al. New pyrimido-indole compound CD-160130 preferentially inhibits the KV11.1B isoform and produces antileukemic effects without cardiotoxicity. Mol Pharmacol. 2015;87:183-96 pubmed publisher..1. Because leukemia and cardiac cells tend to express different ratios of the A and B KV11.1 isoforms, the pharmacological properties of CD-160130 may depend, at least in part, on isoform specificity. ..
- Bentzen B, Bahrke S, Wu K, Larsen A, Odening K, Franke G, et al. Pharmacological activation of Kv11.1 in transgenic long QT-1 rabbits. J Cardiovasc Pharmacol. 2011;57:223-30 pubmed publisher..In conclusion, K(V)11.1 channel activation shortens the cardiac APD in a rabbit model of inherited LQT1, but it comes with the risk of excessive shortening of APD. ..
- Larsen A, Bentzen B, Grunnet M. Differential effects of Kv11.1 activators on Kv11.1a, Kv11.1b and Kv11.1a/Kv11.1b channels. Br J Pharmacol. 2010;161:614-28 pubmed publisher..1a and K(v)11.1b channels, the effects being relatively more pronounced on K(v)11.1b channels. This affirms the importance of testing the effect of K(v)11.1 activators on different channel isoforms. ..
- Gong Q, Stump M, Zhou Z. Regulation of Kv11.1 potassium channel C-terminal isoform expression by the RNA-binding proteins HuR and HuD. J Biol Chem. 2018;293:19624-19632 pubmed publisher..1a isoform and increased those of the Kv11.1a-USO isoform. Our findings suggest that the relative expression levels of Kv11.1 C-terminal isoforms are regulated by the RNA-binding HuR and HuD proteins. ..
- Smith J, Tester D, Hall A, Burgess D, Hsu C, Elayi S, et al. Functional Invalidation of Putative Sudden Infant Death Syndrome-Associated Variants in the KCNH2-Encoded Kv11.1 Channel. Circ Arrhythm Electrophysiol. 2018;11:e005859 pubmed publisher..We conclude that these rare Kv11.1 missense variants are not long-QT syndrome subtype 2-causative variants and therefore do not represent the pathogenic substrate for sudden infant death syndrome in the variant-positive infants. ..
- Shopp G, Helson L, Bouchard A, Salvail D, Majeed M. Liposomes ameliorate Crizotinib- and Nilotinib-induced inhibition of the cardiac IKr channel and QTc prolongation. Anticancer Res. 2014;34:4733-40 pubmed..The use of liposomal encapsulated QT-prolongation agents, or giving liposomes in combination with drugs, may decrease their cardiac liability. ..
- Barros F, Dominguez P, de la Pena P. Relative positioning of Kv11.1 (hERG) K+ channel cytoplasmic domain-located fluorescent tags toward the plasma membrane. Sci Rep. 2018;8:15494 pubmed publisher..This finding suggests the existence of additional conformational rearrangements in the hERG cytoplasmic domains, although their association with specific aspects of channel operation remains to be established. ..
- Schweikart K, Guo L, Shuler Z, Abrams R, Chiao E, Kolaja K, et al. The effects of jaspamide on human cardiomyocyte function and cardiac ion channel activity. Toxicol In Vitro. 2013;27:745-51 pubmed publisher..These results support the hypothesis that the toxicity observed in rats and dogs is due to toxic effects of jaspamide on cardiomyocytes. ..
- Staudacher I, Jehle J, Staudacher K, Pledl H, Lemke D, Schweizer P, et al. HERG K+ channel-dependent apoptosis and cell cycle arrest in human glioblastoma cells. PLoS ONE. 2014;9:e88164 pubmed publisher..Suppression of hERG protein is a crucial molecular event in GB cell apoptosis. Doxazosin and future derivatives are proposed as novel options for more effective GB treatment. ..
- Anderson C, Kuzmicki C, Childs R, Hintz C, Delisle B, January C. Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. Nat Commun. 2014;5:5535 pubmed publisher..However, pharmacological correction is dramatically improved for pore mutants when co-expressed with wild-type subunits to form heteromeric channels. ..
- Wang Y, Guo J, Perissinotti L, Lees Miller J, Teng G, Durdagi S, et al. Role of the pH in state-dependent blockade of hERG currents. Sci Rep. 2016;6:32536 pubmed publisher..Both experimental and computational findings indicate that binding to the open-inactivated state is of key importance to our understanding of the dofetilide's mode of action. ..
- Leanza L, O Reilly P, Doyle A, Venturini E, Zoratti M, Szegezdi E, et al. Correlation between potassium channel expression and sensitivity to drug-induced cell death in tumor cell lines. Curr Pharm Des. 2014;20:189-200 pubmed..Data reported in this work regarding potassium channel protein expression in different cancer cell lines may be exploited for pharmacological manipulation aiming to affect proliferation/apoptosis of cancer cells. ..
- Goodchild S, Macdonald L, Fedida D. Sequence of gating charge movement and pore gating in HERG activation and deactivation pathways. Biophys J. 2015;108:1435-1447 pubmed publisher..We conclude that slow on-gating charge movement can only partly account for slow hERG ionic activation, and that the rate of pore closure has a limiting role in the slow return of gating charges. ..
- Wang J, Li Y, Jiang C. MiR-133b contributes to arsenic-induced apoptosis in U251 glioma cells by targeting the hERG channel. J Mol Neurosci. 2015;55:985-94 pubmed publisher..Targeting miR-133b/hERG pathway may be a new strategy for chemotherapy of malignant gliomas. ..
- Hunter C, Kadakia T, Cooper D, Perretti M, Schwartz R, Brown S. Selective inhibitors of Kv11.1 regulate IL-6 expression by macrophages in response to TLR/IL-1R ligands. ScientificWorldJournal. 2010;10:1580-96 pubmed publisher..Our data might also explain the altered phenotypes displayed by PECAM-1 knockout mice in several disease models. ..
- Vijayvergiya V, Acharya S, POULOS J, Schmidt J. Single channel and ensemble hERG conductance measured in droplet bilayers. Biomed Microdevices. 2015;17:12 pubmed publisher..65 Î¼M for E-4031 and dofetilide, respectively. We also observed time- and voltage- dependent currents following step changes in applied potential that were similar to previously reported patch clamp measurements. ..
- Steffensen A, Bomholtz S, Andersen M, Olsen J, Mutsaers N, Lundegaard P, et al. PKD Phosphorylation as Novel Pathway of KV11.1 Regulation. Cell Physiol Biochem. 2018;47:1742-1750 pubmed publisher..1. Our data might help mitigating a long-standing controversy in the field regarding PKC regulation of KV11.1. We propose that PKD1 mediates the PKC effects on KV11.1 and we found that PKD targets S284 in the N-terminus of the channel. ..
- Wang W, MacKinnon R. Cryo-EM Structure of the Open Human Ether-à-go-go-Related K+ Channel hERG. Cell. 2017;169:422-430.e10 pubmed publisher..A subtle structural feature of the hERG selectivity filter might correlate with its fast inactivation rate, which is key to hERG's role in cardiac action potential repolarization. ..
- Zhang C, Zhou Y, Gu S, Wu Z, Wu W, Liu C, et al. In silico prediction of hERG potassium channel blockage by chemical category approaches. Toxicol Res (Camb). 2016;5:570-582 pubmed publisher..Furthermore, six privileged substructures were identified using information gain and frequency analysis methods, which could be regarded as structural alerts of cardiac toxicity mediated by hERG channel blockage. ..
- Rast G, Guth B. Solubility assessment and on-line exposure confirmation in a patch-clamp assay for hERG (human ether-a-go-go-related gene) potassium channel inhibition. J Pharmacol Toxicol Methods. 2014;70:182-7 pubmed publisher..For research compounds with challenging physicochemical properties this method provides valuable data to support the validity of the measurements. ..
- Leung Y, Govindarajah V, Cheong A, Veevers J, Song D, Gear R, et al. Gestational high-fat diet and bisphenol A exposure heightens mammary cancer risk. Endocr Relat Cancer. 2017;24:365-378 pubmed publisher..Top HBFâ€‰+â€‰BPA-dysregulated genes (ALDH1B1, ASTL, CA7, CPLX4, KCNV2, MAGEE2 and TUBA3E) are associated with poor overall survival in The Cancer Genomic Atlas (TCGA) ..
- Gong Q, Zhou Z. Regulation of Isoform Expression by Blocking Polyadenylation Signal Sequences with Morpholinos. Methods Mol Biol. 2017;1565:141-150 pubmed publisher..In this chapter, we describe methods to upregulate the functional Kv11.1 isoform expression by blocking intronic polyadenylation signal sequences with antisense morpholinos. ..
- Heide J, Zhang F, Bigos K, Mann S, Carr V, Shannon Weickert C, et al. Differential Response to Risperidone in Schizophrenia Patients by KCNH2 Genotype and Drug Metabolizer Status. Am J Psychiatry. 2016;173:53-9 pubmed publisher..1 channels play a role in the therapeutic action of antipsychotic drugs, particularly risperidone, and further highlight the promise of optimizing response with genotype-guided therapy for schizophrenia patients. ..
- Mauerhöfer M, Bauer C. Effects of Temperature on Heteromeric Kv11.1a/1b and Kv11.3 Channels. Biophys J. 2016;111:504-523 pubmed publisher..3 determined at room temperature do not necessarily apply to physiological conditions. The data provided here can aid in the design of models that will enhance our understanding of the role of Kv11 currents in excitable cells. ..
- Caballero R, Utrilla R, AmorÃ³s I, Matamoros M, PÃ©rez HernÃ¡ndez M, Tinaquero D, et al. Tbx20 controls the expression of the KCNH2 gene and of hERG channels. Proc Natl Acad Sci U S A. 2017;114:E416-E425 pubmed publisher..On the contrary, p.R311C Tbx20 specifically disables the Tbx20 protranscriptional activity over KCNH2 Therefore, TBX20 can be considered a KCNH2-modifying gene. ..
- Hyltén Cavallius L, Iepsen E, Wewer Albrechtsen N, Svendstrup M, Lubberding A, Hartmann B, et al. Patients With Long-QT Syndrome Caused by Impaired hERG-Encoded Kv11.1 Potassium Channel Have Exaggerated Endocrine Pancreatic and Incretin Function Associated With Reactive Hypoglycemia. Circulation. 2017;135:1705-1719 pubmed publisher..Furthermore, glucose ingestion increased QT interval and aggravated the cardiac repolarization disturbances in LQT2 patients. URL: http://clinicaltrials.gov. Unique identifier: NCT02775513. ..
- Li X, Zhang R, Zhao B, Lossin C, Cao Z. Cardiotoxicity screening: a review of rapid-throughput in vitro approaches. Arch Toxicol. 2016;90:1803-16 pubmed publisher..This review aims to discuss advantages and limitations of these phenotypic assays for cardiac toxicity assessment. ..
- Choi S, Ruggiero D, Sorice R, Song C, Nutile T, Vernon Smith A, et al. Six Novel Loci Associated with Circulating VEGF Levels Identified by a Meta-analysis of Genome-Wide Association Studies. PLoS Genet. 2016;12:e1005874 pubmed publisher..39 x 10(-1467); rs1740073, C6orf223, P = 2.34 x 10(-17); rs6993770, ZFPM2, P = 2.44 x 10(-60); rs2375981, KCNV2, P = 1.48 x 10(-100)). These variants collectively explained up to 52% of the VEGF phenotypic variance...
- Yu Z, Liu J, van Veldhoven J, Ijzerman A, Schalij M, Pijnappels D, et al. Allosteric Modulation of Kv11.1 (hERG) Channels Protects Against Drug-Induced Ventricular Arrhythmias. Circ Arrhythm Electrophysiol. 2016;9:e003439 pubmed publisher..1 blockers via pharmacological combination therapy. ..
- Zhu W, Varga Z, Silva J. Molecular motions that shape the cardiac action potential: Insights from voltage clamp fluorometry. Prog Biophys Mol Biol. 2016;120:3-17 pubmed publisher..Here, we review the VCF protocol, recent results, and discuss potential future developments, including potential use of these experimental findings to create novel computational models. ..
- Gayet Primo J, Yaeger D, Khanjian R, PUTHUSSERY T. Heteromeric KV2/KV8.2 Channels Mediate Delayed Rectifier Potassium Currents in Primate Photoreceptors. J Neurosci. 2018;38:3414-3427 pubmed publisher..Mutations in the KVS subunit, KV8.2 (KCNV2), lead to severe visual impairment in humans, but the basis of these deficits remains unclear...
- Kanters J, Skibsbye L, Hedley P, Dembic M, Liang B, Hagen C, et al. Combined gating and trafficking defect in Kv11.1 manifests as a malignant long QT syndrome phenotype in a large Danish p.F29L founder family. Scand J Clin Lab Invest. 2015;75:699-709 pubmed publisher..The altered channel gating kinetics in combination with defective trafficking of mutated channels is expected to result in reduced repolarizing current density and, thus, a LQTS phenotype. ..
- Skibsbye L, Ravens U. Mechanism of Proarrhythmic Effects of Potassium Channel Blockers. Card Electrophysiol Clin. 2016;8:395-410 pubmed publisher..1 (hERG) and Kv7.1 (KvLQT1) channels. Finally, the proarrhythmic propensity of atrial-selective K(+) blockers inhibiting Kv1.5, Kir3.1/3.4, SK, and K2P channels is discussed. ..
- Ng C, Gravel A, Perry M, Arnold A, Marcotte I, Vandenberg J. Tyrosine Residues from the S4-S5 Linker of Kv11.1 Channels Are Critical for Slow Deactivation. J Biol Chem. 2016;291:17293-302 pubmed publisher..Thus, the two tyrosine residues in the Kv11.1 S4S5 linker play critical but distinct roles in the slow deactivation phenotype, which is a hallmark of Kv11.1 channels. ..
- Wu W, Gardner A, Sachse F, Sanguinetti M. Ginsenoside Rg3, a Gating Modifier of EAG Family K+ Channels. Mol Pharmacol. 2016;90:469-82 pubmed publisher..Understanding the mechanism underlying the action of Rg3 may facilitate the development of more potent and selective EAG family channel activators as therapies for cardiovascular and neural disorders. ..
- Tomuschat C, O Donnell A, Coyle D, Puri P. Reduced expression of voltage-gated Kv11.1 (hERG) K(+) channels in aganglionic colon in Hirschsprung's disease. Pediatr Surg Int. 2016;32:9-16 pubmed publisher..The decreased expression of hERG in the aganglionic colon may be responsible for the increased tone in the aganglionic narrow spastic segment of bowel. ..
- de la Pena P, Dominguez P, Barros F. Gating mechanism of Kv11.1 (hERG) K+ channels without covalent connection between voltage sensor and pore domains. Pflugers Arch. 2018;470:517-536 pubmed publisher..1 and other KCNH channels. ..
- Yu Z, van Veldhoven J, Louvel J, t Hart I, Rook M, van der Heyden M, et al. Structure-Affinity Relationships (SARs) and Structure-Kinetics Relationships (SKRs) of Kv11.1 Blockers. J Med Chem. 2015;58:5916-29 pubmed publisher..Our findings strongly suggest the importance of the simultaneous study of ligand affinities and kinetic parameters, which may help to explain and predict Kv11.1-mediated cardiotoxicity. ..
- Arcangeli A, Becchetti A. Novel perspectives in cancer therapy: Targeting ion channels. Drug Resist Updat. 2015;21-22:11-9 pubmed publisher..We believe that expanding this relatively neglected field of oncology research might lead to unforeseen therapeutic benefits for cancer patients. ..
- Phan K, Ng C, David E, Shishmarev D, Kuchel P, Vandenberg J, et al. The S1 helix critically regulates the finely tuned gating of Kv11.1 channels. J Biol Chem. 2017;292:7688-7705 pubmed publisher..1 channels in cardiac myocytes, as well as the current passed in response to premature depolarizations that normally helps protect against the formation of ectopic beats. ..
- Yu Z, van Veldhoven J, t Hart I, Kopf A, Heitman L, Ijzerman A. Synthesis and biological evaluation of negative allosteric modulators of the Kv11.1(hERG) channel. Eur J Med Chem. 2015;106:50-9 pubmed publisher..1 blockers. ..
- Engelbrechtsen L, Mahendran Y, Jonsson A, Gjesing A, Weeke P, Jørgensen M, et al. Common variants in the hERG (KCNH2) voltage-gated potassium channel are associated with altered fasting and glucose-stimulated plasma incretin and glucagon responses. BMC Genet. 2018;19:15 pubmed publisher..gov ( NCT00289237 ). Trial retrospectively registered at February 9, 2006. Studies were approved by the Ethical Committee of the Central Denmark Region (journal no. 20080229) and by the Copenhagen County Ethical Committee (KA 98155). ..
- Ye F, Hu Y, Yu W, Xie Z, Hu J, Cao Z, et al. The Scorpion Toxin Analogue BmKTX-D33H as a Potential Kv1.3 Channel-Selective Immunomodulator for Autoimmune Diseases. Toxins (Basel). 2016;8:115 pubmed publisher..Together, our data indicate that BmKTX-D33H is a Kv1.3 channel-specific blocker. Finally, the remarkable selectivity of BmKTX-D33H highlights the great potential of evolutionary-guided peptide drug design in future studies. ..
- Lainez S, Doray A, Hancox J, Cannell M. Regulation of Kv4.3 and hERG potassium channels by KChIP2 isoforms and DPP6 and response to the dual K+ channel activator NS3623. Biochem Pharmacol. 2018;150:120-130 pubmed publisher..The agonist effect of NS3623 on hERG channels was not affected by KChIP2.1, KChIP2.2 or DPP6 co-expression. ..
- de la Pena P, Dominguez P, Barros F. Functional characterization of Kv11.1 (hERG) potassium channels split in the voltage-sensing domain. Pflugers Arch. 2018;470:1069-1085 pubmed publisher..Furthermore, our data suggest that the short and probably rigid characteristics of the extracellular S3-S4 linker are not an essential component of the Kv11.1 voltage sensing machinery. ..
- Lee W, Mann S, Windley M, Imtiaz M, Vandenberg J, Hill A. In silico assessment of kinetics and state dependent binding properties of drugs causing acquired LQTS. Prog Biophys Mol Biol. 2016;120:89-99 pubmed publisher..Further, incorporation of this information into sophisticated in silico models should be able to better predict arrhythmia risk and therefore more accurately assess safety of new drugs in development. ..
- Perez Neut M, Rao V, Gentile S. hERG1/Kv11.1 activation stimulates transcription of p21waf/cip in breast cancer cells via a calcineurin-dependent mechanism. Oncotarget. 2016;7:58893-58902 pubmed publisher..Our results reveal a novel mechanism by which stimulation of Kv11.1 channel leads to transcription of a potent tumor suppressor and suggest a potential therapeutic use for Kv11.1 channel activators. ..
- Fujinami K, Tsunoda K, Nakamura N, Kato Y, Noda T, Shinoda K, et al. Molecular characteristics of four Japanese cases with KCNV2 retinopathy: report of novel disease-causing variants. Mol Vis. 2013;19:1580-90 pubmed..screening of the coding regions and flanking intronic sequences of the potassium channel, subfamily V, member 2 (KCNV2) gene was performed with bidirectional sequencing...
- Jorge B, Campbell C, Miller A, Rutter E, Gurnett C, Vanoye C, et al. Voltage-gated potassium channel KCNV2 (Kv8.2) contributes to epilepsy susceptibility. Proc Natl Acad Sci U S A. 2011;108:5443-8 pubmed publisher..We previously mapped modifier loci that influence Scn2a(Q54) phenotype severity and identified Kcnv2, encoding the voltage-gated potassium channel subunit Kv8.2, as a candidate modifier...
- Gessner G, Sahoo N, Swain S, Hirth G, Schönherr R, Mede R, et al. CO-independent modification of K+ channels by tricarbonyldichlororuthenium(II) dimer (CORM-2). Eur J Pharmacol. 2017;815:33-41 pubmed publisher..Off-site effects similar to those reported here for CORM-2 are found for CORM-3, another ruthenium-based CORM, but are diminished when using iron-based CORM-S1 and absent for manganese-based CORM-EDE1. ..
- Xu D, Su D, Nusinowitz S, Sarraf D. CENTRAL ELLIPSOID LOSS ASSOCIATED WITH CONE DYSTROPHY AND KCNV2 MUTATION. Retin Cases Brief Rep. 2017;: pubmed publisherTo report a case of central ellipsoid loss with supernormal rod electroretinogram and KCNV2 gene mutation.
- Moreels L, Peigneur S, Galan D, De Pauw E, Béress L, Waelkens E, et al. APETx4, a Novel Sea Anemone Toxin and a Modulator of the Cancer-Relevant Potassium Channel KV10.1. Mar Drugs. 2017;15: pubmed publisher..This newly identified KV10.1 inhibitor can be used as a tool to further characterize the oncogenic channel KV10.1 or as a scaffold for the design and synthesis of more potent and safer anticancer drugs. ..
- Ottschytsch N, Raes A, Van Hoorick D, Snyders D. Obligatory heterotetramerization of three previously uncharacterized Kv channel alpha-subunits identified in the human genome. Proc Natl Acad Sci U S A. 2002;99:7986-91 pubmed..Including the subunits described here, the "silent subunits" represent one-third of all Kv subunits, suggesting that obligatory heterotetramer formation is more widespread than previously thought. ..
- Huang L, Xiao X, Li S, Jia X, Wang P, Sun W, et al. Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands. Exp Eye Res. 2016;146:252-8 pubmed publisher..5%), CRX (1.8%), PDE6C (1.8%), CNGB3 (1.8%), GUCA1A (1.2%), UNC119 (0.6%), RPGRIP1 (1.2%), RDH12 (0.6%), KCNV2 (0.6%), C21orf2 (0.6%), CEP290 (0.6%), USH2A (0.6%) and SNRNP200 (0.6%)...
- Zelinger L, Wissinger B, Eli D, Kohl S, Sharon D, Banin E. Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype. Ophthalmology. 2013;120:2338-43 pubmed publisherTo study the clinical variability and KCNV2 mutation spectrum in cone dystrophy with supernormal rod response (CDSRR) in the Israeli population. Case series. Patients with cone-dominated diseases and unaffected relatives were included...
- Dou Y, Macdonald L, Wu Y, Fedida D. The Fast Component of hERG Gating Charge: An Interaction between D411 in the S1 and S4 Residues. Biophys J. 2017;113:1979-1991 pubmed publisher..Disruption of the D411-S4 interactions destabilizes these early closed states, leaving hERG channels able to activate at a rate similar to conventional potassium channels. ..
- Vandenberg J, Perry M, Perrin M, Mann S, Ke Y, Hill A. hERG K(+) channels: structure, function, and clinical significance. Physiol Rev. 2012;92:1393-478 pubmed..In the first part of this review, the properties of Kv11.1 channels, including biogenesis, trafficking, gating, and pharmacology are discussed, while the second part focuses on the pathophysiology of Kv11.1 channels...
- Au Yeung S, Lam H, Schooling C. Vascular Endothelial Growth Factor and Ischemic Heart Disease Risk: A Mendelian Randomization Study. J Am Heart Assoc. 2017;6: pubmed publisher..Based on 9 SNPs independently predicting VEGF (rs1740073 [C6orf223], rs2375981 [KCNV2], rs2639990 [ZADH2], rs4782371 [ZFPM1], rs6921438 [LOC100132354], rs7043199 [VLDLR-AS1<..
- Al Owais M, Hettiarachchi N, Kirton H, Hardy M, Boyle J, Scragg J, et al. A key role for peroxynitrite-mediated inhibition of cardiac ERG (Kv11.1) K+ channels in carbon monoxide-induced proarrhythmic early afterdepolarizations. FASEB J. 2017;31:4845-4854 pubmed publisher..M., Hardy, M. E., Boyle, J. P., Scragg, J. L., Steele, D. S., Peers, C. A key role for peroxynitrite-mediated inhibition of cardiac ERG (Kv11.1) K+ channels in carbon monoxide-induced proarrhythmic early afterdepolarizations. ..
- Gong Q, Stump M, Zhou Z. Upregulation of functional Kv11.1a isoform expression by modified U1 small nuclear RNA. Gene. 2018;641:220-225 pubmed publisher..1a-USO isoform. In patch-clamp experiments, modified U1 snRNA significantly increased Kv11.1 current. Our findings suggest that relative expression of Kv11.1 C-terminal isoforms can be regulated by modified U1 snRNA. ..
- Royal A, Tinker A, Harmer S. Phosphatidylinositol-4,5-bisphosphate is required for KCNQ1/KCNE1 channel function but not anterograde trafficking. PLoS ONE. 2017;12:e0186293 pubmed publisher..In conclusion, we identify that the Q1/E1 channel does not require PIP2 or PI(4)P for anterograde trafficking, but is heavily reliant on PIP2 for channel function once at the PM. ..
- Balijepalli R, Delisle B, Balijepalli S, Foell J, Slind J, Kamp T, et al. Kv11.1 (ERG1) K+ channels localize in cholesterol and sphingolipid enriched membranes and are modulated by membrane cholesterol. Channels (Austin). 2007;1:263-72 pubmed..We conclude that Kv11.1 protein localizes in cholesterol and sphingolipid enriched membranes and that membrane cholesterol can modulate I(Kv11.1) and I(Kr). ..
- Andersen M, Skibsbye L, Saljic A, Larsen M, Rasmussen H, Jespersen T. Regulation of Kv1.4 potassium channels by PKC and AMPK kinases. Channels (Austin). 2017;: pubmed publisher..In the light of previous reports, our results demonstrate an impressive heterogeneity in the molecular pathways controlling the surface expression of highly related potassium channel subunits...
- Ritter M, Vodopiutz J, Lechner S, Moser E, Schmidt Erfurth U, Janecke A. Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family. Br J Ophthalmol. 2013;97:169-73 pubmed publisher..non-contact biometry, ultrasonography, electroretinography (ERG) and analysis of the mutational status of the KCNV2 and MFRP genes in genomic DNA...
- Debette S, Visvikis Siest S, Chen M, Ndiaye N, Song C, DESTEFANO A, et al. Identification of cis- and trans-acting genetic variants explaining up to half the variation in circulating vascular endothelial growth factor levels. Circ Res. 2011;109:554-63 pubmed publisher..Genetic variants explaining up to half the heritability of serum VEGF levels were identified. These new insights provide important clues to the pathways regulating circulating VEGF levels. ..
- Pillozzi S, D Amico M, Bartoli G, Gasparoli L, Petroni G, Crociani O, et al. The combined activation of KCa3.1 and inhibition of Kv11.1/hERG1 currents contribute to overcome Cisplatin resistance in colorectal cancer cells. Br J Cancer. 2018;118:200-212 pubmed publisher..1 and inhibitor of Kv11.1 channels, is in clinical use, our results suggest that this compound may be useful in the clinic to improve Cisplatin efficacy and overcome Cisplatin resistance in CRC. ..
- Lee W, Windley M, Vandenberg J, Hill A. In Vitro and In Silico Risk Assessment in Acquired Long QT Syndrome: The Devil Is in the Details. Front Physiol. 2017;8:934 pubmed publisher..accurately predict risk and further, how much of this detail can be retrieved from protocols that are practical to implement in high throughout screens as part of next generation of preclinical in silico drug screening approaches?..
- Kamboh M, Barmada M, Demirci F, Minster R, Carrasquillo M, Pankratz V, et al. Genome-wide association analysis of age-at-onset in Alzheimer's disease. Mol Psychiatry. 2012;17:1340-6 pubmed publisher..These findings need to be confirmed in additional well-powered samples. ..
- Fukumoto D, Ding W, Wada Y, Fujii Y, Ichikawa M, Takayama K, et al. Novel intracellular transport-refractory mutations in KCNH2 identified in patients with symptomatic long QT syndrome. J Cardiol. 2018;71:401-408 pubmed publisher..1. Low-temperature incubation rescued plasma membrane expression of Kv11.1-T826I but not G785D. Both mutations exerted loss-of-function effects on Kv11.1 and explained the phenotypes of the mutation carriers. ..
- Qu J, Lu S, Lu Z, Xu P, Xiang D, Qu Q. Pharmacogenetic and case-control study on potassium channel related gene variants and genetic generalized epilepsy. Medicine (Baltimore). 2017;96:e7321 pubmed publisher..1 and Kv1.2 channels, which are essential roles in the initiation and shaping of action potentials. KCNV2 encodes Kv8.2, which is a regional overlap with Kv2 subunits as functional heterotetramers...
- Smith K, Wilkie S, Tebbs Warner J, Jarvis B, Gallasch L, Stocker M, et al. Functional analysis of missense mutations in Kv8.2 causing cone dystrophy with supernormal rod electroretinogram. J Biol Chem. 2012;287:43972-83 pubmed publisherMutations in KCNV2 have been proposed as the molecular basis for cone dystrophy with supernormal rod electroretinogram. KCNV2 codes for the modulatory voltage-gated potassium channel ?-subunit, Kv8...
- Gong Q, Zhou Z. Nonsense-Mediated mRNA Decay of hERG Mutations in Long QT Syndrome. Methods Mol Biol. 2018;1684:37-49 pubmed publisher..In this chapter, we describe methods to study NMD of hERG nonsense and frameshift mutations in long QT syndrome. ..