Results 11 to 20 of about 1,941 (169)

Painful and painless mutations of SCN9A and SCN11A voltage-gated sodium channels [PDF]

Pflügers Archiv - European Journal of Physiology, 2020
Chronic pain is a global problem affecting up to 20% of the world’s population and has a significant economic, social and personal cost to society.
A Haehner, A Lampert, A Meglic, A Snape, AC Themistocleous, AM Ritter, AM Rush, AM Rush, AN Akopian, AN Akopian, AS Yekkirala, B Coste, B Wu, BA Brouwer, BS Tanaka, BT Priest, BTA de Greef, C Han, C Han, C Han, C Han, C Moore, C Yang, CG Faber, CG Faber, CJ Klein, CR Fertleman, DL Bennett, DS Goldberg, E Leipold, E Leipold, EC Emery, EC Emery, F Amaya, F Ginanneschi, F Padilla, F Rugiero, F Zufall, H Breivik, H Maruyama, H Okuda, HA Sawal, HS Ahn, I Eijkenboom, I Vetter, J Ding, J Fjell, J Gingras, J Huang, J Huang, J Huang, J Lai, JA Ostman, JG Hoeijmakers, JIR Labau, JJ Cox, JJ Cox, JJ Michiels, JJ Toledo-Aral, JP Drenth, JR Hockley, JR Hockley, JS Choi, JS Choi, K Zimmermann, KE Sadler, KG Gwathmey, LC Stirling, LR Peddareddygari, M Eberhardt, M Estacion, M Estacion, M Estacion, M Estacion, M Ito, M Kurban, M Marchi, M Sopacua, MA Nassar, MA Nassar, MD Baker, MD Baker, MJ Beyak, MJ Lee, MK King, MR Suter, MS Minett, MT Wu, N Imai, N Mann, N Skeik, NA Singh, R Cregg, R Dabby, R Kabata, RV Haberberger, S Dib-Hajj, S Rajasekharan, SD Dib-Hajj, SD Dib-Hajj, SD Dib-Hajj, SD Shields, SG Waxman, SG Waxman, SN Lawson, SW Tham, SY Jeong, TP Harty, TR Cummins, TR Cummins, TR Cummins, TR Cummins, TZ Fischer, V Pereira, V Phatarakijnirund, WA Catterall, X Cheng, XY Zhang, Y Wang, Y Yang, Y Yang, YP Goldberg, YQ Yu, Z Cen, Z Liu, Z Shorer, Z Zhang, ZA Mohammed, ZA Mohammed   +128 more
core   +8 more sources

Genetic Analysis of SCN11A, SCN10A, and SCN9A in Familial Episodic Pain Syndrome (FEPS) in Japan and Proposal of Clinical Diagnostic Criteria. [PDF]

Int J Mol Sci
Familial episodic pain syndrome (FEPS) is an early childhood onset disorder of severe episodic limb pain caused mainly by pathogenic variants of SCN11A, SCN10A, and SCN9A, which encode three voltage-gated sodium channels (VGSCs) expressed as key ...
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.   +24 more
europepmc   +4 more sources

Sisters with no pain, no tears: A report of a new variant of hereditary sensory and autonomic neuropathy (Type IX) Caused by a novel SCN11A mutation

Indian Journal of Dermatology, 2020
Lack of pain sensation in children involves a rare group of heritable disorders; hereditary sensory and autonomic neuropathy (HSAN). Till date, eight types of HSAN have been described depending on the clinical phenotype and the underlying gene mutation ...
Shital Poojary, Saurabh Jaiswal, Kapisha Sunny Shah, Krishna B Bhalala   +3 more
doaj   +4 more sources

Genetic Variants Underlying Risk of Intracranial Aneurysms: Insights from a GWAS in Portugal. [PDF]

PLoS ONE, 2015
Subarachnoid hemorrhage (SAH) is a life-threatening event that most frequently leads to severe disability and death. Its most frequent cause is the rupture of a saccular intracranial aneurysm (IA), which is a blood vessel dilation caused by disease or ...
Patrícia Abrantes, Maria M Santos, Inês Sousa, Joana M Xavier, Vânia Francisco, Tiago Krug, João Sobral, Mafalda Matos, Madalena Martins, António Jacinto, Domingos Coiteiro, Sofia A Oliveira   +11 more
doaj   +7 more sources

Correlational analysis for identifying genes whose regulation contributes to chronic neuropathic pain [PDF]

Molecular Pain, 2009
Background Nerve injury-triggered hyperexcitability in primary sensory neurons is considered a major source of chronic neuropathic pain. The hyperexcitability, in turn, is thought to be related to transcriptional switching in afferent cell somata ...
Wiesenfeld-Hallin Zsuzsanna, Xu Xiao-Jun, Thun Jonas, Ding-Pfennigdorff Danping, Schneider Hans-Christoph, Schulte Anke M, Metz-Weidmann Christiane, Jordan Suzana, Gebauer Mathias, Persson Anna-Karin, Darvasi Ariel, Fried Kaj, Devor Marshall   +12 more
doaj   +4 more sources

Genetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies. [PDF]

Int J Mol Sci, 2023
Neuropathic pain is a frequent feature of diabetic peripheral neuropathy (DPN) and small fiber neuropathy (SFN). Resolving the genetic architecture of these painful neuropathies will lead to better disease management strategies, counselling and ...
Almomani R, Sopacua M, Marchi M, Ślęczkowska M, Lindsey P, de Greef BTA, Hoeijmakers JGJ, Salvi E, Merkies ISJ, Ferdousi M, Malik RA, Ziegler D, Derks KWJ, Boenhof G, Martinelli-Boneschi F, Cazzato D, Lombardi R, Dib-Hajj S, Waxman SG, Smeets HJM, Gerrits MM, Faber CG, Lauria G, On Behalf Of The Propane Study Group.   +23 more
europepmc   +2 more sources

SCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathology [PDF]

Neurology Genetics, 2018
Objective The SCN11A gene encodes the NaV1.9 sodium channel found exclusively in peripheral nociceptive neurons. Methods All enrolled participants were evaluated clinically by electrophysiologic studies, DNA sequencing, and punch skin biopsies.
R. Castoro, M. Simmons, Vignesh Ravi, De-Wang Huang, Christopher P. Lee, Jean-François Sergent, Lan Zhou, Jun Li   +7 more
semanticscholar   +3 more sources

Pathophysiology of Nociception and Rare Genetic Disorders with Increased Pain Threshold or Pain Insensitivity

Pathophysiology, 2022
Pain and nociception are different phenomena. Nociception is the result of complex activity in sensory pathways. On the other hand, pain is the effect of interactions between nociceptive processes, and cognition, emotions, as well as the social context ...
Marco Cascella, Maria Rosaria Muzio, Federica Monaco, Davide Nocerino, Alessandro Ottaiano, Francesco Perri, Massimo Antonio Innamorato   +6 more
doaj   +2 more sources

SCN11A variants may influence postoperative pain sensitivity after gynecological surgery in Chinese Han female patients

Medicine, 2017
Nav1.9, encoded by sodium voltage-gated channel alpha subunit 11 (SCN11A), is one of the main sodium channels involved in pain transmission. Dysfunction of Nav1.9 alters pain sensitivity, resulting in insensitivity to pain or familial episodic pain.
Jiaoli Sun, Guangyou Duan, Ningbo Li, Shanna Guo, Yuhao Zhang, Ying Ying, Mi Zhang, Qingli Wang, Jing Yu Liu, Xianwei Zhang   +9 more
semanticscholar   +3 more sources

Anatomical Analysis of Transient Potential Vanilloid Receptor 1 (Trpv1+) and Mu-Opioid Receptor (Oprm1+) Co-expression in Rat Dorsal Root Ganglion Neurons [PDF]

Frontiers in Molecular Neuroscience, 2022
Primary afferent neurons of the dorsal root ganglia (DRG) transduce peripheral nociceptive signals and transmit them to the spinal cord. These neurons also mediate analgesic control of the nociceptive inputs, particularly through the μ-opioid receptor ...
Wenting Ma, Matthew R. Sapio, Allison P. Manalo, Dragan Maric, Mary Kate Dougherty, Taichi Goto, Taichi Goto, Andrew J. Mannes, Michael J. Iadarola   +8 more
doaj   +2 more sources