Results 31 to 40 of about 2,516,635 (116)
Targeting progressive multiple sclerosis: Toward mechanism‐informed precision medicine
Abstract Multiple sclerosis has undergone a therapeutic revolution over the past three decades. Randomized clinical trials and real‐world data demonstrate that modern disease‐modifying therapies substantially reduce relapse rates and acute inflammatory activity detected by magnetic resonance imaging (MRI).
Fredrik Piehl +3 more
wiley +1 more source
Exploring Genetic Contributions to Prostate Cancer Risk in an Asian Population‐Based Study
ABSTRACT Background Genetic susceptibility to prostate cancer (PCa) varies across populations, yet East Asian men remain underrepresented in genome‐wide association studies (GWAS). This study aimed to identify genetic variants associated with PCa in a Taiwanese cohort and to explore their potential biological relevance using integrative annotation ...
Jiun‐Hung Geng +8 more
wiley +1 more source
Analysis of genomes isolated from rAAV5.DYSF.
DNA was isolated from rAAV5.DYSF vector preparation and used for Southern blot and PCR analysis. (A) Schematic of rAAV5.DYSF cassette. Strand specific hybridization probes used for Southern blot analysis are indicated by red bars.
Chrystal L. Montgomery (157807) +10 more
core +1 more source
Recovery of membrane repair following rAAV5.DYSF injection in muscle.
(A) Individual flexor digitorum brevis fibers were isolated from WT, 129-DYSF−/−, and 129-DYSFrAAV.DYSF mice and the sarcolemma was damaged in the context of a solution containing FM 1–43.
Chrystal L. Montgomery (157807) +10 more
core +1 more source
Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem +2 more
wiley +1 more source
Upcycling agricultural by‐products into functional resources, this study demonstrates that Cucumis melo var. makuwa leaf (CML) extract exerts a marked weight‐independent improvement of hepatic steatosis. CML extract markedly alleviates lipid accumulation, oxidative stress, and inflammation in MASLD, highlighting its potent hepatoprotective and ...
Ji Young Hwang +12 more
wiley +1 more source
RXR Gamma Enables Oligodendrocyte Differentiation by Suppressing Sonic Hedgehog Signaling
Using pharmacogenetic approaches, Baldassarro et al. demonstrate that RXRγ suppresses the SHH signaling pathway in OPCs to ensure their efficient differentiation following T3 stimulation. Accordingly, Rxrg−/− OPCs displayed compromised differentiation which was normalized by the pharmacological inhibition of the hyperactive SHH pathway.
Vito Antonio Baldassarro +4 more
wiley +1 more source
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source
Brain Atrophy Associated With Risk Variant rs10191329 Extends Beyond Multiple Sclerosis
The risk allele rs10191329*A is associated with disease severity and brain atrophy in people with multiple sclerosis (MS). We investigated the association of rs10191329 with age‐related brain atrophy in a population‐based cohort using 10,308 magnetic resonance imaging (MRI) scans of 4,815 participants aged ≥ 45 years without MS in cross‐sectional and ...
Cato E. A. Corsten +10 more
wiley +1 more source
International audienceMutations in the gene encoding dysferlin (DYSF; MIM# 603009, 2p13, GenBank NM\₀03494.2) cause primary dysferlinopathies, which are autosomal recessive muscular dystrophies. DYSF has a large mutational spectrum, and genetic diagnosis
Bartoli, Marc +4 more
core +1 more source

