Results 81 to 90 of about 3,466 (187)

Suzetrigine, a Non‐Opioid Small‐Molecule Analgesic: Mechanism of Action, Clinical, and Translational Science

Clinical and Translational Science, Volume 18, Issue 11, November 2025.
ABSTRACT The discovery and approval of Suzetrigine (VX‐548, Journavx) marks a significant breakthrough in pain management. It is the first non‐opioid analgesic approved since celecoxib in 1998. Suzetrigine selectively blocks voltage‐gated sodium channel Nav1.8 and acts exclusively on peripheral nociceptors without crossing the blood–brain barrier ...
Rhea Rajasingham, Yanfei Qi
wiley   +1 more source

Distribution of rs6795970 SNP variants in SCN10A gene in young population of the Republic of Moldova.

Buletinul Academiei de Ştiinţe a Moldovei: Ştiinţe Medicale, 2020
Background. PR interval reflects atrial and atrioventricular nodal conduction time and is an important determinant of arrhythmia risk. Genome-wide association studies (GWAS) have identified association of nonsynonymous SNP, rs6795970, in the SCN10A gene ...
Cristina Butovscaia, Anastasia Buza, Daniela Abduşa, G. Kurochkin   +3 more
doaj  

The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families

Scientific Reports, 2022
Global Developmental Delay/Intellectual disability (ID) is the term used to describe various disorders caused by abnormal brain development and characterized by impairments in cognition, communication, behavior, or motor skills.
Ghalia Al-Kasbi, Fathiya Al-Murshedi, Adila Al-Kindi, Nadia Al-Hashimi, Khalid Al-Thihli, Abeer Al-Saegh, Amna Al-Futaisi, Watfa Al-Mamari, Abdullah Al-Asmi, Zandre Bruwer, Khalsa Al-Kharusi, Samiya Al-Rashdi, Fahad Zadjali, Said Al-Yahyaee, Almundher Al-Maawali   +14 more
doaj   +1 more source

Fast Association Tests for Genes with FAST [PDF]

, 2013
Gene-based tests of association can increase the power of a genome-wide association study by aggregating multiple independent effects across a gene or locus into a single stronger signal.
Arking, Dan E., Bader, Joel S., Chanda, Pritam, Huang, Hailiang   +3 more
core   +3 more sources

Diffusion Tensor Imaging Reveals Altered Centrality of Pain‐Related Regions in SCN9A‐Associated Small Fiber Neuropathy

Journal of Neuroimaging, Volume 35, Issue 6, November/December 2025.
ABSTRACT Background and Purpose Small fiber neuropathy (SFN) is a neuropathic disorder that is associated with chronic pain. While most SFN cases are idiopathic, SFN can also have hereditary causes. For example, rare SCN9A gene mutations can impair the NaV1.7 sodium channel, which leads to dorsal root ganglion neuron hyperexcitability, causing SFN ...
Gerhard S. Drenthen, Dennis Kool, Amir Far, Jaymin Upadhyay, David E. J. Linden, Raquel van Gool, Celine P. Goijen, Ingemar S. J. Merkies, Walter H. Backes, Catharina G. Faber, Jacobus F. A. Jansen, Janneke G. J. Hoeijmakers   +11 more
wiley   +1 more source

Small fiber neuropathy: clinical presentation, diagnostic methods, possibly causes and treatment

Neurologijos seminarai, 2020
Small fiber neuropathy (SFN) is a disorder affecting the thin myelinated Aδ and unmyelinated C nerve fibers, which usually presents clinically with symmetrical, length-dependent neuropathic and autonomic symptoms.
E. Paulėkas , D. Garšvienė , K. Petrikonis   +2 more
doaj   +1 more source

The App-Runx1 region is critical for birth defects and electrocardiographic dysfunctions observed in a Down syndrome mouse model. [PDF]

PLoS Genetics, 2012
Down syndrome (DS) leads to complex phenotypes and is the main genetic cause of birth defects and heart diseases. The Ts65Dn DS mouse model is trisomic for the distal part of mouse chromosome 16 and displays similar features with post-natal lethality and
Matthieu Raveau, Jacques M Lignon, Valérie Nalesso, Arnaud Duchon, Yoram Groner, Andrew J Sharp, Doulaye Dembele, Véronique Brault, Yann Hérault   +8 more
doaj   +1 more source

Pre-Synaptic GABA_A in NaV1.8⁺ Primary Afferents Is Required for the Development of Punctate but Not Dynamic Mechanical Allodynia following CFA Inflammation

Cells, 2022
Hypersensitivity to mechanical stimuli is a cardinal symptom of neuropathic and inflammatory pain. A reduction in spinal inhibition is generally considered a causal factor in the development of mechanical hypersensitivity after injury.
Sheng Liu, Veronica Bonalume, Qi Gao, Jeremy Tsung-Chieh Chen, Karl Rohr, Jing Hu, Richard Carr   +6 more
doaj   +1 more source

The expanding toolkit of translating ribosome affinity purification [PDF]

, 2017
Translating ribosome affinity purification is a method initially developed for profiling mRNA from genetically defined cell types in complex tissues. It has been applied both to identify target molecules in cell types that are important for controlling a
Dougherty, Joseph D
core   +2 more sources

Die Chemie und Biologie der Tetrodotoxin Naturstofffamilie

Angewandte Chemie, Volume 137, Issue 35, August 25, 2025.
Tetrodotoxin ist vor allem als das Gift des Kugelfisches bekannt, einer Delikatesse in der japanischen Küche. Seine Toxizität beruht auf der selektiven Blockade von NaV Kanälen, wie am Beispiel der NaV1.7 Pore dargestellt, wobei das DEKA Motiv hervorgehoben ist, das für die Durchlässigkeit von Natriumionen verantwortlich ist.
Benedikt Nißl, Marcel Mülbaier, Francesca Grisoni, Dirk Trauner, Marcel Bermúdez, Clemens Dialer, David B. Konrad   +6 more
wiley   +1 more source