| Functional modulation of the human voltage-gated sodium channel NaV1.8 by auxiliary beta subunits. | Functional modulation of the human voltage-gated sodium channel Na(V)1.8 by auxiliary β subunits.
Nevin ST, Lawrence N, Nicke A, Lewis RJ, Adams DJ., Free PMC Article | 08/27/2024 |
| Genetic Analysis of SCN11A, SCN10A, and SCN9A in Familial Episodic Pain Syndrome (FEPS) in Japan and Proposal of Clinical Diagnostic Criteria. | Genetic Analysis of SCN11A, SCN10A, and SCN9A in Familial Episodic Pain Syndrome (FEPS) in Japan and Proposal of Clinical Diagnostic Criteria.
Noguchi A, Tezuka T, Okuda H, Kobayashi H, Harada KH, Yoshida T, Akioka S, Wada K, Takeya A, Kabata-Murasawa R, Kondo D, Ishikawa K, Asano T, Fujiwara M, Hishikawa N, Mizukami T, Hitomi T, Youssefian S, Nagai Y, Tanaka M, Eto K, Shiraishi H, Amaya F, Koizumi A, Takahashi T., Free PMC Article | 08/8/2024 |
| Heterologous expression of the human wild-type and variant NaV 1.8 (A1073V) in rat sensory neurons. | Heterologous expression of the human wild-type and variant Na(V) 1.8 (A1073V) in rat sensory neurons.
Kapur MM, Soliman M, Blanke EN, Herold PB, Janicki PK, Vrana KE, Coates MD, Ruiz-Velasco V., | 02/22/2024 |
| Molecular and Functional Relevance of NaV1.8-Induced Atrial Arrhythmogenic Triggers in a Human SCN10A Knock-Out Stem Cell Model. | Molecular and Functional Relevance of Na(V)1.8-Induced Atrial Arrhythmogenic Triggers in a Human SCN10A Knock-Out Stem Cell Model.
Hartmann N, Knierim M, Maurer W, Dybkova N, Hasenfuß G, Sossalla S, Streckfuss-Bömeke K., Free PMC Article | 06/30/2023 |
| Patient-specific induced pluripotent stem cell properties implicate Ca[2+]-homeostasis in clinical arrhythmia associated with combined heterozygous RYR2 and SCN10A variants. | Patient-specific induced pluripotent stem cell properties implicate Ca(2+)-homeostasis in clinical arrhythmia associated with combined heterozygous RYR2 and SCN10A variants.
Zhou Y, Huang W, Liu L, Li A, Jiang C, Zhou R, Wang J, Tan X, Huang CL, Zhang Y., Free PMC Article | 05/15/2023 |
| Biallelic Loss of Function Mutation in Sodium Channel Gene SCN10A in an Autism Spectrum Disorder Trio from Pakistan. | Biallelic Loss of Function Mutation in Sodium Channel Gene SCN10A in an Autism Spectrum Disorder Trio from Pakistan.
Rabia A, Harripaul R, Mikhailov A, Mahmood S, Maqbool S, Vincent JB, Ayub M., Free PMC Article | 10/8/2022 |
| Clinical Implications of SCN10A Loss-of-Function Variants in 169 610 Exomes Representing the General Population. | Clinical Implications of SCN10A Loss-of-Function Variants in 169 610 Exomes Representing the General Population.
Paludan-Müller C, Larsen S, Ahlberg G, Andreasen L, Monfort LM, Svendsen JH, Jespersen T, Bundgaard H, Kanters JK, Olesen MS. | 07/30/2022 |
| Common variants in SCN10A gene associated with Brugada syndrome. | Common variants in SCN10A gene associated with Brugada syndrome.
Huang Y, Chen XM, Barajas-Martinez H, Jiang H, Antzelevitch C, Hu D., Free PMC Article | 04/16/2022 |
| Contributions of NaV1.8 and NaV1.9 to excitability in human induced pluripotent stem-cell derived somatosensory neurons. | Contributions of Na(V)1.8 and Na(V)1.9 to excitability in human induced pluripotent stem-cell derived somatosensory neurons.
Alsaloum M, Labau JIR, Liu S, Estacion M, Zhao P, Dib-Hajj F, Waxman SG., Free PMC Article | 02/26/2022 |
| Detrimental proarrhythmogenic interaction of Ca(2+)/calmodulin-dependent protein kinase II and NaV1.8 in heart failure. | Detrimental proarrhythmogenic interaction of Ca(2+)/calmodulin-dependent protein kinase II and Na(V)1.8 in heart failure.
Bengel P, Dybkova N, Tirilomis P, Ahmad S, Hartmann N, A Mohamed B, Krekeler MC, Maurer W, Pabel S, Trum M, Mustroph J, Gummert J, Milting H, Wagner S, Ljubojevic-Holzer S, Toischer K, Maier LS, Hasenfuss G, Streckfuss-Bömeke K, Sossalla S., Free PMC Article | 12/18/2021 |
| Disordered breathing in a Pitt-Hopkins syndrome model involves Phox2b-expressing parafacial neurons and aberrant Nav1.8 expression. | Disordered breathing in a Pitt-Hopkins syndrome model involves Phox2b-expressing parafacial neurons and aberrant Nav1.8 expression.
Cleary CM, James S, Maher BJ, Mulkey DK., Free PMC Article | 11/6/2021 |
| Family-based exome sequencing identifies rare coding variants in age-related macular degeneration. | Family-based exome sequencing identifies rare coding variants in age-related macular degeneration.
Ratnapriya R, Acar İE, Geerlings MJ, Branham K, Kwong A, Saksens NTM, Pauper M, Corominas J, Kwicklis M, Zipprer D, Starostik MR, Othman M, Yashar B, Abecasis GR, Chew EY, Ferrington DA, Hoyng CB, Swaroop A, den Hollander AI., Free PMC Article | 08/28/2021 |
| Pathogenic mutations perturb calmodulin regulation of Nav1.8 channel. | Pathogenic mutations perturb calmodulin regulation of Na(v)1.8 channel.
Hong L, Zhang M, Sridhar A, Darbar D., Free PMC Article | 03/20/2021 |
| Comparable clinical characteristics in Brugada syndrome patients harboring SCN5A or novel SCN10A variants. | Comparable clinical characteristics in Brugada syndrome patients harboring SCN5A or novel SCN10A variants.
Monasky MM, Micaglio E, Vicedomini G, Locati ET, Ciconte G, Giannelli L, Giordano F, Crisà S, Vecchi M, Borrelli V, Ghiroldi A, D'Imperio S, Di Resta C, Benedetti S, Ferrari M, Santinelli V, Anastasia L, Pappone C. | 10/31/2020 |
| Impact of the NaV1.8 variant, A1073V, on post-sigmoidectomy pain and electrophysiological function in rat sympathetic neurons. | Impact of the Na(V)1.8 variant, A1073V, on post-sigmoidectomy pain and electrophysiological function in rat sympathetic neurons.
Coates MD, Kim JS, Carkaci-Salli N, Vrana KE, Koltun WA, Puhl HL, Adhikary SD, Janicki PK, Ruiz-Velasco V., Free PMC Article | 09/26/2020 |
| Our results suggest that the rs11708996 and rs10428132 polymorphisms of the SCN5A and SCN10A genes may contribute to an elevated risk of developing VA [ventricular arrhythmia] in the context of MI[myocardial infarction]. The associated alleles or genotypes may be used to predict the risk, and thus prevent eventual SCD [sudden cardiac death. | Single nucleotide polymorphisms of SCN5A and SCN10A genes increase the risk of ventricular arrhythmias during myocardial infarction.
Foddha H, Bouzidi N, Foddha A, Chouchene S, Touhami R, Leban N, Maatoug MF, Gamra H, Ferchichi S, Chibani JB, Khelil AH. | 07/11/2020 |
| Functional NaV1.8 channels are absent in non-diseased atrial and ventricular cardiac myocytes. | Absence of Functional Na(v)1.8 Channels in Non-diseased Atrial and Ventricular Cardiomyocytes.
Casini S, Marchal GA, Kawasaki M, Nariswari FA, Portero V, van den Berg NWE, Guan K, Driessen AHG, Veldkamp MW, Mengarelli I, de Groot JR, Verkerk AO, Remme CA., Free PMC Article | 06/6/2020 |
| SCN10A and SST were identified as biomarkers for Neuropathic pain (NP). In conclusion, our study showed the expression pattern of gene about NP. These identified biomarkers could serve as potential therapeutic targets for treating NP | Identification of novel therapeutic targets for neuropathic pain based on gene expression patterns.
Zhu D, Liu K, Wan CL, Lu J, Zhao HX. | 05/30/2020 |
| A gain-of-function disease mutation (G1662S) in Nav1.8 that induces nociceptor hyperexcitability increases resurgent currents in DRG neurons which greatly prolong action potential duration and enhance repetitive firing. The transfected G1662S mutation doubled resurgent currents in rat DRG cells. Nav1.8 open-channel block is a major factor in Nav1.8-associated pain mechanisms. | Increased Resurgent Sodium Currents in Nav1.8 Contribute to Nociceptive Sensory Neuron Hyperexcitability Associated with Peripheral Neuropathies.
Xiao Y, Barbosa C, Pei Z, Xie W, Strong JA, Zhang JM, Cummins TR., Free PMC Article | 01/4/2020 |
| The frequency of (potentially) pathogenic variants was 5.1% (n=58/1139) for SCN9A, 3.7% (n=42/1139) for SCN10A and 2.9% (n=33/1139) for SCN11A in pure small fibre neuropathy. | Yield of peripheral sodium channels gene screening in pure small fibre neuropathy.
Eijkenboom I, Sopacua M, Hoeijmakers JGJ, de Greef BTA, Lindsey P, Almomani R, Marchi M, Vanoevelen J, Smeets HJM, Waxman SG, Lauria G, Merkies ISJ, Faber CG, Gerrits MM. | 12/14/2019 |
| Up-regulation of NaV1.8 detrimentally influences cellular electrophysiology by prolonging action potential duration, increasing RyR2-leakiness, thereby making cellular proarrhythmic events more likely to occur in heart failure cardiomyocytes. | Differential regulation of sodium channels as a novel proarrhythmic mechanism in the human failing heart.
Dybkova N, Ahmad S, Pabel S, Tirilomis P, Hartmann N, Fischer TH, Bengel P, Tirilomis T, Ljubojevic S, Renner A, Gummert J, Ellenberger D, Wagner S, Frey N, Maier LS, Streckfuss-Bömeke K, Hasenfuss G, Sossalla S. | 10/26/2019 |
| loss-of-function mutations of SCN10A were associated with kidney stone disease in the families studied. | Loss-of-function mutations of SCN10A encoding Na(V)1.8 α subunit of voltage-gated sodium channel in patients with human kidney stone disease.
Nettuwakul C, Praditsap O, Sawasdee N, Rungroj N, Ruamyod K, Watanapa WB, Junking M, Sangnual S, Sritippayawan S, Cheunsuchon B, Chuawattana D, Rojsatapong S, Chaowagul W, Dib-Hajj SD, Waxman SG, Yenchitsomanus PT., Free PMC Article | 10/26/2019 |
| Our findings implicate SCN10A in Long QT syndrome (LQT). The presence of frameshift mutations suggests loss-of-function as the underlying disease mechanism. The common association with atrial fibrillation suggests a unique mechanism of disease for this LQT gene | Deleterious protein-altering mutations in the SCN10A voltage-gated sodium channel gene are associated with prolonged QT.
Abou Ziki MD, Seidelmann SB, Smith E, Atteya G, Jiang Y, Fernandes RG, Marieb MA, Akar JG, Mani A., Free PMC Article | 10/5/2019 |
| D1639N variant, identified in a patient with chronic pain, causes loss-of-function of the channel due to impaired cell surface trafficking. This trafficking defect can be rescued by lidocaine. | Loss-of-function of Nav1.8/D1639N linked to human pain can be rescued by lidocaine.
Kaluza L, Meents JE, Hampl M, Rösseler C, Hautvast PAI, Detro-Dassen S, Hausmann R, Schmalzing G, Lampert A. | 09/28/2019 |
| These findings suggest an association between genetic variation in SCN10A, the late sodium current, and alterations in cardiac conduction. | Common Coding Variants in SCN10A Are Associated With the Nav1.8 Late Current and Cardiac Conduction.
Macri V, Brody JA, Arking DE, Hucker WJ, Yin X, Lin H, Mills RW, Sinner MF, Lubitz SA, Liu CT, Morrison AC, Alonso A, Li N, Fedorov VV, Janssen PM, Bis JC, Heckbert SR, Dolmatova EV, Lumley T, Sitlani CM, Cupples LA, Pulit SL, Newton-Cheh C, Barnard J, Smith JD, Van Wagoner DR, Chung MK, Vlahakes GJ, O'Donnell CJ, Rotter JI, Margulies KB, Morley MP, Cappola TP, Benjamin EJ, Muzny D, Gibbs RA, Jackson RD, Magnani JW, Herndon CN, Rich SS, Psaty BM, Milan DJ, Boerwinkle E, Mohler PJ, Sotoodehnia N, Ellinor PT., Free PMC Article | 07/20/2019 |