Results 31 to 40 of about 2,976 (183)

Erratum: Multiple sclerosis severity variant in <i>DYSF-ZNF638</i> locus associates with neuronal loss and inflammation. [PDF]

iScience
The genetic variant rs10191329AA has been identified to associate with faster disability accrual in multiple sclerosis (MS). We investigated the impact of rs10191329AA carriership on MS pathology and flanking genes dysferlin (DYSF) and zinc finger protein 638 (ZNF638) in the Netherlands Brain Bank cohort (n = 290) by comparing rs10191329AA (n = 6) to ...
Engelenburg HJ, van den Bosch AMR, Chen JQA, Hsiao CC, Melief MJ, Harroud A, Huitinga I, Hamann J, Smolders J.   +8 more
europepmc   +7 more sources

Single-cell sequencing reveals potential novel insights into appendage-patterning and joint-development in a spider. [PDF]

Dev Dyn
Abstract Background Jointed appendages represent one of the key innovations of arthropods, and thus understanding the development and evolution of these structures is important for the understanding of the evolutionary success of Arthropoda. In this paper, we analyze a cell cluster that was identified in a previous single‐cell sequencing (SCS ...
Medina-Jiménez BI, Budd GE, Janssen R.
europepmc   +2 more sources

Distinct amino acid motifs carrying multiple positive charges regulate membrane targeting of dysferlin and MG53. [PDF]

PLoS ONE, 2018
Dysferlin (Dysf) and mitsugumin53 (MG53) are two key proteins involved in membrane repair of muscle cells which are efficiently recruited to the sarcolemma upon lesioning.
Lu Zhou, Volker Middel, Markus Reischl, Uwe Strähle, G Ulrich Nienhaus   +4 more
doaj   +1 more source

RUNX2 Activation in Fibro/Adipogenic Progenitors Promotes Muscle Fibrosis in Muscular Dystrophy. [PDF]

Adv Sci (Weinh)
This study revealed a novel role of the chemokine‐TGF‐β1‐RUNX2 axis in determining the fate of FAP differentiation and modulating muscle fibrosis in patients and mice with muscular dystrophies. ABSTRACT Clinical evidence indicates concurrent muscle inflammation and fibrosis in muscular dystrophies (MDs); however, the molecular mechanisms underlying ...
Wu P, Zhang Z, Zheng K, Zhu Z, Zhu Y, Kiram A, Zhao L, Chen H, Xu Z, Li X, Sun B, Li Z, Xu D.   +12 more
europepmc   +2 more sources

Models of the complete DysF region of the Type-1 ferlins; dysferlin, myoferlin, and Fer1L5.

, 2022
The inner DysF domain is positioned at the left of each model, whereas the outer domain is positioned on the right side. The models of the complete DysF region have been colored as a gradient from blue to red to highlight the crossover topology of the ...
Jon J. McCord (11977550), Matthew J. Dominguez (13171020), R. Bryan Sutton (69050)   +2 more
core   +1 more source

A rare case of dysferlinopathy with paternal isodisomy for chromosome 2 determined by exome sequencing

Molecular Genetics & Genomic Medicine, 2023
Background Dysferlinopathies are autosomal recessive muscular dystrophies resulting from defects in DYSF (MIM: 603009), which is located on chromosome 2p13 and encodes the dysferlin protein. Methods We performed exome sequencing and subsequent trio‐based
Huan Li, Liang Wang, Cheng Zhang
doaj   +1 more source

Miyoshi Muscular Dystrophy Due to Novel Splice Site Variants in DYSF Gene

Child Neurology Open, 2022
Dysferlinopathies are a group of phenotypically heterogeneous disorders caused by pathogenic variants in the DYSF (DYStrophy-associated Fer-1-like) gene encoding dysferlin. The phenotypic spectrum includes Miyoshi muscular dystrophy (MMD), limb-girdle muscular dystrophy type R2, distal myopathy with anterior tibial onset, and isolated hyperCKemia.
Grace Bryant, Steven A. Moore, James S. Nix, Grace Rice, Murat Gokden, Aravindhan Veerapandiyan   +5 more
openaire   +2 more sources

Increased nonHDL cholesterol levels cause muscle wasting and ambulatory dysfunction in the mouse model of LGMD2B

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, Nadia Milad, Zoe White, Chris Pascoe, Rayleigh Chan, Geoffrey W. Payne, Chun Seow, Fabio Rossi, Michael A. Seidman, Pascal Bernatchez   +9 more
doaj   +1 more source

Role of DYSF Genetic Variant in Limb Girdle Muscular Dystrophy: A Case Report

Gene, Cell and Tissue, 2021
Introduction: Muscular dystrophy is a hereditary degenerative muscle disease which progressively reduces the strength of the muscles that control movement. In this study, we tried to investigate genetic variants in muscular dystrophy using sequencing of whole exons.
Hadis Malek, Khadijeh Shahrokhabadi, Saeid Ghavami, Mohsen Taheri, Ehsan Ghayoor Karimiani   +4 more
openaire   +2 more sources

Limb-girdle muscular dystrophy type 2B causes HDL-C abnormalities in patients and statin-resistant muscle wasting in dysferlin-deficient mice

Skeletal Muscle, 2022
Limb-girdle muscular dystrophy (MD) type 2B (LGMD2B) and Duchenne MD (DMD) are caused by mutations to the Dysferlin and Dystrophin genes, respectively. We have recently demonstrated in typically mild dysferlin- and dystrophin-deficient mouse models that ...
Zoe White, Zeren Sun, Elodie Sauge, Dan Cox, Graham Donen, Dmitri Pechkovsky, Volker Straub, Gordon A. Francis, Pascal Bernatchez   +8 more
doaj   +1 more source