Results 11 to 20 of about 3,466 (187)

SCN10A Mutation in a Patient with Erythromelalgia Enhances C-Fiber Activity Dependent Slowing. [PDF]

PLoS ONE, 2016
Gain-of-function mutations in the tetrodotoxin (TTX) sensitive voltage-gated sodium channel (Nav) Nav1.7 have been identified as a key mechanism underlying chronic pain in inherited erythromelalgia.
Andreas M Kist, Dagrun Sagafos, Anthony M Rush, Cristian Neacsu, Esther Eberhardt, Roland Schmidt, Lars Kristian Lunden, Kristin Ørstavik, Luisa Kaluza, Jannis Meents, Zhiping Zhang, Thomas Hedley Carr, Hugh Salter, David Malinowsky, Patrik Wollberg, Johannes Krupp, Inge Petter Kleggetveit, Martin Schmelz, Ellen Jørum, Angelika Lampert, Barbara Namer   +20 more
doaj   +7 more sources

Modulating the activity of human nociceptors with a SCN10A promoter-specific viral vector tool

Neurobiology of Pain, 2023
Despite the high prevalence of chronic pain as a disease in our society, there is a lack of effective treatment options for patients living with this condition.
Stephanie Mouchbahani-Constance, Camille Lagard, Justine Schweizer, Isabelle Labonté, Miltiadis Georgiopoulos, Colombe Otis, Manon St-Louis, Eric Troncy, Philippe Sarret, Alfredo Ribeiro-Da-Silva, Jean A. Ouellet, Philippe Séguéla, Marie-Eve Paquet, Reza Sharif-Naeini   +13 more
doaj   +3 more sources

Homozygosity for the SCN10A Polymorphism rs6795970 Is Associated With Hypoalgesic Inflammatory Bowel Disease Phenotype [PDF]

Frontiers in Medicine, 2018
Background: Hypoalgesic inflammatory bowel disease (IBD), a condition in which patients with active disease do not perceive and/or report abdominal pain, is associated with serious complications and there is a lack of cost-effective, reliable diagnostic ...
Eugene Gonzalez-Lopez, Yuka Imamura Kawasawa, Vonn Walter, Lijun Zhang, Walter A. Koltun, Xuemei Huang, Kent E. Vrana, Matthew D. Coates   +7 more
doaj   +3 more sources

Variant Intronic Enhancer Controls SCN10A-short Expression and Heart Conduction [PDF]

Circulation, 2021
Background: Genetic variants in SCN10A , encoding the neuronal voltage-gated sodium channel Na V 1.8, are strongly associated with atrial fibrillation, Brugada syndrome, cardiac conduction velocities, and heart rate.
Joyce C.K. Man, Fernanda M. Bosada, Koen T. Scholman, Joost A. Offerhaus, Roddy Walsh, Karel van Duijvenboden, Vincent W.W. van Eif, Connie R. Bezzina, Arie O. Verkerk, Bastiaan J. Boukens, Phil Barnett, Vincent M. Christoffels   +11 more
  +18 more sources

Regulation of PVT‐CeA Circuit in Deoxynivalenol‐Induced Anorexia and Aversive‐Like Emotions

Advanced Science
Neuronal plasticity in the central amygdala (CeA) is essential for modulating feeding behaviors and emotional responses, potentially influencing reactions to Deoxynivalenol (DON).
Liu‐Nan Yang, Mingmeng Tang, Andreas K. Nüssler, Liegang Liu, Wei Yang   +4 more
doaj   +2 more sources

A SCN10A SNP biases human pain sensitivity [PDF]

Molecular Pain, 2016
Background: Nav1.8 sodium channels, encoded by SCN10A, are preferentially expressed in nociceptive neurons and play an important role in human pain. Although rare gain-of-function variants in SCN10A have been identified in individuals with painful peripheral neuropathies, whether more common variants in SCN10A can have an effect at the channel level ...
Duan, Guangyou, Han, Chongyang, Wang, Qingli, Guo, Shanna, Zhang, Yuhao, Ying, Ying, Huang, Penghao, Zhang, Li, Macala, Lawrence, Shah, Palak, Zhang, Mi, Li, Ningbo, Dib-Hajj, Sulayman D, Waxman, Stephen G, Zhang, Xianwei   +14 more
  +11 more sources

Genomic Structural Equation Modeling Combined With Post-GWAS Analysis Identifies Two Risk Gene Loci and Functionally Sensitive Genes Associated With Cardiac Conduction Block. [PDF]

Genet Res (Camb)
Background Cardiac conduction disorders (CCDs) represent a broad spectrum of severe cardiovascular conditions associated with syncope and sudden cardiac death. Therefore, identification of reliable biomarkers is necessary to significantly improve the diagnostic accuracy and therapeutic outcomes of CCDs. This study analyzed GWAS summary datasets using a
Wang T, Miao X, Xia Y.
europepmc   +2 more sources

An enhancer cluster controls gene activity and topology of the SCN5A-SCN10A locus in vivo [PDF]

Nature Communications, 2019
Mutations associated with SCN5A, which encodes the major cardiac sodium channel, influence impulse conduction and are associated with arrhythmia disorders.
Joyce C. K. Man, Rajiv A. Mohan, Malou van den Boogaard, Catharina R. E. Hilvering, Catherine Jenkins, Vincent Wakker, Valerio Bianchi, Wouter de Laat, Phil Barnett, Bastiaan J. Boukens, Vincent M. Christoffels   +10 more
doaj   +7 more sources

The para^bss1 Drosophila melanogaster as Model for Chronic Nociception: Insights Into Cannabidiol Analgesic Effects. [PDF]

Eur J Pain
ABSTRACT Background Chronic pain, which is often unrelated to ongoing injury, is poorly understood and difficult to treat. Genetic studies have identified voltage‐gated sodium (Nav) channels, particularly gain‐of‐function mutations such as L858F and R1150W in human NaV1.7, as involved in the development of chronic pain. Methods A chronic pain model was
Malta SM, Correia LIV, Marquez AS, Bernardes LMM, Howland JG, Mendes-Silva AP, Espíndola FS, Ueira-Vieira C.   +7 more
europepmc   +2 more sources

SCN10A variants associated with congenital harlequin syndrome

British Journal of Dermatology, 2022
Background: Dominant and recessive autosomal pathogenic variants in the three major genes (COL6A1-A2-A3) encoding the extracellular matrix protein collagen VI underlie a group of myopathies ranging from early-onset severe conditions (Ullrich congenital muscular dystrophy) to milder forms maintaining independent ambulation (Bethlem myopathy).
Halle, Aurelie, de Becdelièvre, Alix, Funalot, Benoit, Labrèze, Christine, Morice-Picard, Fanny, Boralevi, Franck   +5 more
openaire   +2 more sources