Results 71 to 80 of about 5,273 (196)
Single‐cell analysis reveals neuroprotective histone deacetylase inhibitor pathways
Alzheimer's &Dementia, Volume 22, Issue 2, February 2026.Abstract INTRODUCTION Alzheimer's disease (AD) involves β‐amyloid (Aβ) accumulation, tau pathology, and neuroinflammation, driving cognitive decline. Despite extensive research, disease‐modifying therapies remain elusive. We integrated single‐cell RNA sequencing (scRNA‐seq), spatial transcriptomics, and in vitro validation to identify repurposable ...
Madeline Peyton +12 more
wiley +1 more source
Pediatric Erythromelalgia and SCN9A Mutations: Systematic Review and Single-Center Case Series [PDF]
The Journal of Pediatrics, 2019 To evaluate the clinical features of erythromelalgia in childhood associated with gain-of-function SCN9A mutations that increase activity of the Nav1.7 voltage-gated sodium channel, we conducted a systematic review of pediatric presentations of erythromelalgia related to SCN9A mutations, and compared pediatric clinical presentations of symptomatic ...
Luke Arthur +8 more
openaire +3 more sources
Frontiers in Pediatrics, 2022 BackgroundPrimary erythrocytic (PEM) is a rare autosomal dominant single gene disease. Most of the changes of gene loci can be found by whole exon gene sequencing, and the clinical symptoms and patient survival can be improved by specific site-to-site ...
Shuo Feng +6 more
doaj +1 more source
“It’s the end of the world as we know it and we feel fantastic: examining the end of suffering” [PDF]
, 2018 This paper examines the consequences of the transhumanist goal to eliminate the suffering of all sentient beings. While transhumanists identify numerous approaches to this goal, the endgame is genetic modification of humans and natural predators ...
Renstrom, Joelle
core
Analyzing China’s contributions to major dermatologic journals from the past 20 years [PDF]
, 2020 Background: Over the past 20 years, China has experienced an increased popularity of Western medicine. The impact of Western medicine in China on the field of dermatology is not well characterized.
Bray, Jeremy K, Feldman, Steven R
core
Conservation of alternative splicing in sodium channels reveals evolutionary focus on release from inactivation and structural insights into gating [PDF]
, 2017 Voltage-gated sodium channels are critical for neuronal activity, and highly intolerant to variation. Even mutations that cause subtle changes in the activity these channels are sufficient to cause devastating inherited neurological diseases, such as ...
Liavas, A, Lignani, G, Schorge, S
core +1 more source
BMC Neurology, 2020 Background To describe the clinical phenotype of paroxysmal extreme pain disorder, an autosomal dominant condition in four members in one family with the mutation NM_002977.3:c.3892G > T (p.Val1298Phe) in the SCN9A gene. Clinical examinations and details
Adam Stępień +4 more
doaj +1 more source
The "plus" side of epilepsy phenotyping [PDF]
, 2017 No abstract ...
Striano, Pasquale, Zuberi, Sameer M.
core +1 more source
Epilepsia, Volume 67, Issue 1, Page 299-314, January 2026.Abstract Objective Conditions presenting with both epilepsy and movement disorders (EPIMDs) range from relatively benign cases to severe developmental encephalopathies. However, the full clinical and genetic spectrum still needs to be better defined.
Davide Caputo +15 more
wiley +1 more source
Risk factors for neuropathic pain in diabetes mellitus [PDF]
, 2016 According to the International Diabetes Federation, diabetes mellitus (DM) is estimated to affect around 415 million adults worldwide, roughly 8.8% of the adult population, with the figure projected to rise to over 600 million by 2040.
Abbott +41 more
core +3 more sources