Results 61 to 70 of about 2,976 (183)
Clinical Genetics, Volume 110, Issue 1, Page 15-28, July 2026.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
eFood, Volume 7, Issue 3, June 2026.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
, 2012 rAAV5.DYSF (1012 vg) was delivered via the femoral artery to the hindlimb of 3–4 week old Dysf−/− mice. (A) Four weeks post transfer, immunostaining demonstrated dysferlin expression in treated animals (right). (B) Western blot confirmed 237 kd dysferlin
Chrystal L. Montgomery (157807) +10 more
core +1 more source
Bent Spine Syndrome: A Phenotype of Dysferlinopathy or a Symptomatic DYSF Gene Mutation Carrier [PDF]
European Neurology, 2012 Bent spine syndrome : a phenotype of dysferlinopathy or a symptomatic DYSF gene mutation ...
István Gáti +6 more
openaire +1 more source
Proper Voltage-Dependent Ion Channel Function in Dysferlin-Deficient Cardiomyocytes
Cellular Physiology and Biochemistry, 2015 Background/Aims: Dysferlin plays a decisive role in calcium-dependent membrane repair in myocytes. Mutations in the encoding DYSF gene cause a number of myopathies, e.g. limb-girdle muscular dystrophy type 2B (LGMD2B).
Lena Rubi +5 more
doaj +1 more source
RXR Gamma Enables Oligodendrocyte Differentiation by Suppressing Sonic Hedgehog Signaling
Glia, Volume 74, Issue 6, June 2026.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
, 2022 Aims Dysferlinopathy is an autosomal recessive muscular dystrophy, caused by bi-allelic variants in the gene encoding dysferlin (DYSF). Onset typically occurs in the second to third decade and is characterised by slowly progressive skeletal muscle ...
Schaefer, A.M. +13 more
core
Pregnancy, Volume 2, Issue 3, May 2026.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
PLoS ONE, 2011 BackgroundDysferlinopathies are caused by mutations in the dysferlin gene (DYSF). Diagnosis is complex due to the high clinical variability of the disease and because dysferlin expression in the muscle biopsy may be secondarily reduced due to a primary ...
Eduard Gallardo +8 more
doaj +1 more source
Brain Atrophy Associated With Risk Variant rs10191329 Extends Beyond Multiple Sclerosis
Annals of Neurology, Volume 99, Issue 4, Page 1083-1089, April 2026.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