Results 121 to 130 of about 6,430 (245)
Phenotypic Drug Screening for Dysferlinopathy Using Patient‐Derived Induced Pluripotent Stem Cells
Stem Cells Translational Medicine, 2019 Dysferlinopathy is a progressive muscle disorder that includes limb‐girdle muscular dystrophy type 2B and Miyoshi myopathy (MM). It is caused by mutations in the dysferlin (DYSF) gene, whose function is to reseal the muscular membrane.
Yuko Kokubu +9 more
doaj +1 more source
Journal of Extracellular Vesicles, Volume 14, Issue 9, September 2025.ABSTRACT Extracellular vesicles (EVs) represent a cytokine‐independent pathway though which skeletal muscle (SkM) cells influence the fate of neighbouring cells, thereby regulating SkM metabolic homeostasis and regeneration. Although SkM‐EVs are increasingly being explored as a therapeutic strategy to enhance muscle regeneration or to induce the ...
Rhyma Hakkar +23 more
wiley +1 more source
DNA methylation dynamics in muscle development and disease [PDF]
, 2015 DNA methylation is an essential epigenetic modification for mammalian development and is crucial for the establishment and maintenance of cellular identity.
Carrió Gaspar, Elvira +1 more
core +3 more sources
Asian Journal of Medical Sciences, 2017 Background: Duchenne muscular dystrophy (DMD), one of the most common X linked muscular disorder, affecting 1 in 3500 male births and is caused by mutation in dystrophin gene. 65% of DMD cases are caused by large deletion of dystrophin gene, followed by
Rachna Agarwal
doaj +1 more source
Cytokines and chemokines as regulators of skeletal muscle inflammation: presenting the case of Duchenne muscular dystrophy [PDF]
, 2013 Duchenne muscular dystrophy is a severe inherited muscle disease that affects 1 in 3500 boys worldwide. Infiltration of skeletal muscle by inflammatory cells is an important facet of disease pathophysiology and is strongly associated with disease ...
De Bleecker, Jan, De Paepe, Boel
core +3 more sources
United European Gastroenterology Journal, Volume 13, Issue 7, Page 1155-1170, September 2025.ABSTRACT Background Cholangiocarcinoma presents a global health challenge due to its increasing incidence and poor prognosis, primarily resulting from delayed diagnosis. There is an urgent need for a reliable biomarker to enhance early detection. Materials and Methods Patients with cholangiocarcinoma were enrolled into three cohorts: a discovery set (n
Lichieh Julie Chu +6 more
wiley +1 more source
Europace, 2020 AIMS The multi-C2 domain protein dysferlin localizes to the T-Tubule system of skeletal and heart muscles. In skeletal muscle, dysferlin is known to play a role in membrane repair and in T-tubule biogenesis and maintenance. Dysferlin deficiency manifests
Julia Hofhuis +13 more
semanticscholar +1 more source
Innate immune system activation in zebrafish and cellular models of Diamond Blackfan Anemia. [PDF]
, 2018 Deficiency of ribosomal proteins (RPs) leads to Diamond Blackfan Anemia (DBA) associated with anemia, congenital defects, and cancer. While p53 activation is responsible for many features of DBA, the role of immune system is less defined.
Bibikova, Elena +5 more
core +2 more sources
A Multiancestral Genome-Wide Exome Array Study of Alzheimer Disease, Frontotemporal Dementia, and Progressive Supranuclear Palsy [PDF]
, 2015 Importance Previous studies have indicated a heritable component of the etiology of neurodegenerative diseases such as Alzheimer disease (AD), frontotemporal dementia (FTD), and progressive supranuclear palsy (PSP).
Beekly, Duane L. +34 more
core +2 more sources
Journal of Lipid Research, 2018 Progressive limb and girdle muscle atrophy leading to loss of ambulation is a hallmark of dysferlinopathies, which include limb-girdle muscular dystrophy type 2B and Miyoshi myopathy.
Stephanie L. Sellers +9 more
doaj +1 more source