Results 81 to 90 of about 5,273 (196)

Development and External Validation of a Genetic Risk Score for Pain in Rheumatoid Arthritis

Arthritis Care &Research, Volume 77, Issue 12, Page 1409-1417, December 2025.
Objective Several single‐nucleotide polymorphisms (SNPs) have been associated with chronic pain syndromes. Our objective was to determine whether genetic variants are associated with pain and disease activity in rheumatoid arthritis (RA). Methods Participants were included from two independent RA cohorts: FORWARD (National Databank for Rheumatic ...
Katie J. McMenamin, Thomas R. Riley IV, Kristin Wipfler, Kaleb Michaud, Austin Wheeler, Bryant R. England, Brian Sauer, Katherine D. Wysham, Rui Xiao, Michael March, Grant W. Cannon, Sylvanus Toikumo, Henry R. Kranzler, Rachel L. Kember, Ted R. Mikuls, Joshua F. Baker   +15 more
wiley   +1 more source

Rubbing Salt in the Wound: Molecular Evolutionary Analysis of Pain-Related Genes Reveals the Pain Adaptation of Cetaceans in Seawater

Animals, 2022
Pain, usually caused by a strong or disruptive stimulus, is an unpleasant sensation that serves as a warning to organisms. To adapt to extreme environments, some terrestrial animals have evolved to be inherently insensitive to pain.
Xiaoyue Ding, Fangfang Yu, Xiaofang He, Shixia Xu, Guang Yang, Wenhua Ren   +5 more
doaj   +1 more source

Genetic neurological channelopathies: molecular genetics and clinical phenotypes [PDF]

, 2015
Evidence accumulated over recent years has shown that genetic neurological channelopathies can cause many different neurological diseases. Presentations relating to the brain, spinal cord, peripheral nerve or muscle mean that channelopathies can impact ...
Hanna, MG, Kullmann, DM, Spillane, J
core   +1 more source

Spatial Transcriptomics of Patients With Kaposi Sarcoma Identifies Mechanisms of Immune Evasion

Journal of Medical Virology, Volume 97, Issue 12, December 2025.
ABSTRACT To identify the cell types that are infected with KSHV and the immune interactions in Kaposi sarcoma (KS) lesions, we performed spatial transcriptomics with seven KS skin tumors. We used a single‐cell RNA‐sequencing reference data set from healthy skin donors with a method to conduct spatially informed cell‐type deconvolution for spatial ...
Bahman Afsari, Ramya Ramaswami, Kathryn Lurain, Takanobu Tagawa, Daphne Knudsen‐Palmer, Guruswamy Mahesh, Ameera Mungale, Robert Yarchoan, Joseph Ziegelbauer   +8 more
wiley   +1 more source

Identification and In-Silico study of non-synonymous functional SNPs in the human SCN9A gene.

PLoS ONE
Single nucleotide polymorphisms are the most common form of DNA alterations at the level of a single nucleotide in the genomic sequence. Genome-wide association studies (GWAS) were carried to identify potential risk genes or genomic regions by screening ...
Sana Waheed, Kainat Ramzan, Sibtain Ahmad, Muhammad Saleem Khan, Muhammad Wajid, Hayat Ullah, Ali Umar, Rashid Iqbal, Riaz Ullah, Ahmed Bari   +9 more
doaj   +1 more source

The non-synonymous SNP, R1150W, in SCN9A is not associated with chronic widespread pain susceptibility

Molecular Pain, 2012
Background Mutations in SCN9A, encoding the alpha subunit of the voltage-gated sodium channel (Nav1.7), have caused severe pain disorders and congenital insensitivity to pain.
Holliday Kate L, Thomson Wendy, Neogi Tuhina, Felson David T, Wang Ke, Wu Frederick C, Huhtaniemi Ilpo T, Bartfai Gyorgy, Casanueva Felipe, Forti Gianni, Kula Krzysztof, Punab Margus, Vanderschueren Dirk, Macfarlane Gary J, Horan Michael A, Ollier William, Payton Antony, Pendleton Neil, McBeth John   +18 more
doaj   +1 more source

Paroxysmal Extreme Pain Disorder (PEPD): clinical and genetic investigation [PDF]

, 2012
Objectifs 1) Caractériser une famille avec PEPD aux plans clinique, généalogique et génétique. 2) Identifier la cause génétique de la maladie dans cette famille, et en démontrer la pathogénicité. Introduction Le "Paroxysmal Extreme Pain Disorder " (PEPD)
Stauffacher, M.
core  

Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy [PDF]

, 2016
Background Copy number variants (CNVs) have been linked to neurodevelopmental disorders such as intellectual disability (ID), autism, epilepsy and psychiatric disease. There are few studies of CNVs in patients with both ID and epilepsy.
A Escayg, A Ingason, A Ramalingam, A Suls, A Zangaladze, AA Kashevarova, Andrew E. Fry, Angus Clarke, B Lang, BC Lim, C Depienne, Catharine White, CB Catarino, CG Vanoye, Cheney Drew, Clare Taylor, D Carranza Rojo, D Pinto, Daniela T. Pilz, DT Miller, E Daalen van, E Matthews, E Rees, EL Heinzen, Elliott Rees, EM Reinthaler, Emma McCann, Frances Gibbon, G Kirov, Gareth Thomas, George Kirov, GJ Noh, Glyn Jones, GM Cooper, H Meng, H Saitsu, Hayley Archer, HC Mefford, HC Mefford, HC Mefford, HE Yu, Hood Mugalaasi, IA Adzhubei, J Sebat, Jaya Natarajan, JC Hodge, JL Groen, Johann Te Water Naude, K Wang, Kiran Mantripragada, KS Pollard, L Claes, L Weehi Te, LA Harkin, LA Weiss, Louise Hartley, M Bartnik, M Kircher, M Mantegazza, M Shinawi, MA Gillentine, Mark I. Rees, ME Talkowski, Michael J. Owen, Michael P. Kerr, MK Rudd, NA Singh, P Kumar, P Striano, Penny Blake, Peter Holmans, R Grantham, R Ullmann, Rhys H. Thomas, Rose Thompson, S Girirajan, SA Mullen, Sally Davies, SE Heron, Seo-Kyung Chung, Sian Jose, Sian Morgan, SR Williams, T Kleefstra, T Kleefstra, T Kleefstra, VM Kalscheuer, Wellcome Trust Case Control Consortium, X Shi, Y Chen   +89 more
core   +2 more sources

Regenerating the Senses: Stem Cell‐Derived Sensory Neurons and Functional Genomics in Neurological Disorders

Sensory Neuroscience, Volume 1, Issue 3, December 2025.
ABSTRACT Sensory neuron disorders, such as peripheral neuropathies and trigeminal neuralgia, cause chronic pain and sensory dysfunction; however, regenerative treatments are limited. Human pluripotent stem cells (hPSCs) provide a powerful platform to model these diseases by generating functional sensory neuron subtypes, including nociceptors and ...
Pushpanathan Muthuirulan, Avanthika Nityanand, Anjali Pandit, Vaishnavi Gururajan   +3 more
wiley   +1 more source

The Concise Guide to PHARMACOLOGY 2025/26: Ion channels

British Journal of Pharmacology, Volume 182, Issue S1, Page S152-S241, December 2025.
The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander, Jörg Striessnig, Alasdair J. Gibb, Alistair A. Mathie, Emma L. Veale, Eamonn Kelly, Chloe J. Peach, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Christopher Southan, Jamie A. Davies, Richard W. Aldrich, Bernard Attali, Austin M. Baggetta, Elvir Becirovic, David J. Beech, Martin Biel, Roslyn M. Bill, Ana I. Caceres, William A. Catterall, Han Chow Chua, Alex C. Conner, Henry Danahay, Paul Davies, Katrien De Clerq, Markus Delling, Francesco Di Virgilio, Simonetta Falzoni, Wei Fang, Stefanie Fenske, Anna Fortuny‐Gomez, Samuel Fountain, George K. Chandy, Mohammad‐Reza Ghovanloo, Steve A. N. Goldstein, Martin Gosling, Christian Grimm, Stephan Grissmer, Kotdaji Ha, Tim G. Hales, Verena Hammelmann, Israel Hanukoglu, Meiqin Hu, Ad P. Ijzerman, Sairam V. Jabba, Mike Jarvis, Anders A. Jensen, Sven E. Jordt, Leonard K. Kaczmarek, Stephan Kellenberger, Charles Kennedy, Brian King, Philip Kitchen, Qiang Liu, Joseph W. Lynch, Rian W. Manville, Jessica Meades, Verena Mehlfeld, Annette Nicke, Stefan Offermanns, Edward Pérez‐Reyes, Leigh D. Plant, Stephan A. Pless, Lachlan D. Rash, Dejian Ren, Hussein N. Rubaiy, Mootaz M. Salman, Werner Sieghart, Lucia G. Sivilotti, Trevor G. Smart, Terrance P. Snutch, Paolo Tammaro, Jinbin Tian, James S. Trimmer, Charlotte Van den Eynde, Paola Vergani, Joris Vriens, Stephen G. Waxman, Aguan D. Wei, Brenda T. Winn, Heike Wulff, Haoxing Xu, Fan Yang, Lixia Yue, Xiaoli Zhang, Michael Zhu   +86 more
wiley   +1 more source