Results 91 to 100 of about 4,001 (193)
JCSM Communications, Volume 9, Issue 1, January/June 2026.ABSTRACT Background Muscular dystrophies (MD) are a genetically diverse group of muscle disorders, many of which arise from mutations in genes encoding components of the sarcolemma dystrophin‐associated glycoprotein complex (DGC). Despite their notorious heterogeneity, MDs consistently lead to chronic myofiber weakening, necrosis and loss of muscle ...
Yejin Kang, Pascal Bernatchez
wiley +1 more source
Dysferlin is a new marker for leaky brain blood vessels in multiple sclerosis
, 2006 Dysferlin is a muscle protein involved in cell membrane repair and its deficiency is associated with muscular dystrophy. We describe that dysferlin is also expressed in leaky endothelial cells.
Bauer, Jan +11 more
core +1 more source
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
Methylation Landscapes of Cartilage in Hip Osteoarthritis
Genetics Research , Volume 2026, Issue 1, 2026.Objective To elucidate different methylation landscapes between cartilage of femoral neck fracture and preserved and damaged cartilages in hip osteoarthritis (OA). Methods Genome‐wide DNA methylation data were acquired from two data sets in GEO database (GSE63106 and GSE63695), which were based on Illumina HumanMethylation450 BeadChip arrays.
Ruiyang Jiang +8 more
wiley +1 more source
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
Dysferlin Exon 32 Skipping in Patient Cells [PDF]
, 2018 Dysferlinopathies are rare genetic diseases affecting muscles due to mutations in DYSF. Exon 32 of DYSF has been shown to be dispensable for dysferlin functions. Here we present a method to visualize the skipping of exon 32 at the RNA and protein levels using an antisense oligonucleotide on cells derived from a dysferlinopathy-affected patient.
Barthelemy, Florian +4 more
openaire +3 more sources
mSphere, 2016 Sporulation of Saccharomyces cerevisiae is a developmental process in which an ascus containing four haploid spores forms from a diploid cell. During this process, newly formed membrane structures called prospore membranes extend along the nuclear ...
Yuuya Okumura +9 more
doaj +1 more source
Dysferlin-peptides redirect mutant dysferlin to the sarcolemma in primary human myotubes.
, 2012 Primary human myotubes carrying dysferlin missense mutations were treated with the TAT-labeled dysferlin-peptides. Dysferlin was detected by anti-dysferlin ab. Nuclei are stained with Hoechst. Missense mutated dysferlin aggregates within the myotubes (A,
Peter T. Daniel (118346) +7 more
core +1 more source
Improved genotyping of the dysferlin null mouse
, 2015 <p>The dysferlin-null mouse line that we generated has been an invaluable tool for exploring the function of dysferlin and studying the pathogenesis of dysferlin-deficient muscular dystrophy (1-3).
sprotocols
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