Results 101 to 110 of about 2,287 (160)

Studies on muscular dystrophy associated genes [PDF]

, 2007
Muscular dystrophy is a collective group of genetic disorder that results in progressive wasting of skeletal muscle. Dysferlin, the gene responsible for Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi Myopathy (MM) was found to be a member of
Bakir, Hadil
core  

The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments

Biomolecules
Dysferlinopathies refer to a spectrum of muscular dystrophies that cause progressive muscle weakness and degeneration. They are caused by mutations in the DYSF gene, which encodes the dysferlin protein that is crucial for repairing muscle membranes. This
Saeed Anwar, Toshifumi Yokota
doaj   +1 more source

Construction of Human Neuromuscular Disease-Related Gene Site-Specific Mutant Cell Line by Cas9 Mutation System

, 2020
Objective: to construct human neuromuscular disease-related gene site-specific mutant cell line by Cas9 mutation system. Methods: according to the principle of CRISPR/Cas9 target design, the exon region of CXCR4 gene sequence was found in the National ...
Du, Cheng, Wang, Yuxin, Zhang, Yinbing
core   +1 more source

Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report

BMC Musculoskeletal Disorders
Background Dysferlinopathy is a phenotypically heterogeneous group of hereditary diseases caused by mutations in the DYSF gene. Early contractures are considered rare, and rigid spine syndrome in dysferlinopathy has been previously reported only once ...
Sergey N. Bardakov, Angelina A. Titova, Sergey S. Nikitin, Valentin Nikitins, Margarita O. Sokolova, Vadim A. Tsargush, Elena A. Yuhno, Oleg V. Vetrovoj, Pierre G. Carlier, Yana V. Sofronova, Аrtur А. Isaev, Roman V. Deev   +11 more
doaj   +1 more source

Analysis of Exon Skipping Applicability for Dysferlinopathies

Cells
Exon skipping, mediated through antisense oligonucleotides (ASOs), is a promising approach to exclude pathogenic variants from the DYSF gene and treat dysferlinopathies.
Jamie Leckie, Sebastian Hernandez Rodriguez, Martin Krahn, Toshifumi Yokota   +3 more
doaj   +1 more source

Formation of the recombinant adenovirus encoding codon-optimized dysferlin gene and analysis of the recombinant protein expression in cell culture in vitro

, 2020
Dysferlinopathies belong to neuromuscular diseases associated with aberrant expression and/or function of dysferlin protein in skeletal muscle, which is caused by mutations in the dysf (dystrophy-associated fer-1-like, DYSF) gene.
Solovyeva V., Starostina I., Shevchenko K., Isaev A., Rizvanov A., Deev R.   +5 more
core  

Formation of the recombinant adenovirus encoding codon-optimized dysferlin gene and analysis of the recombinant protein expression in cell culture in vitro [PDF]

, 2012
Dysferlinopathies belong to neuromuscular diseases associated with aberrant expression and/or function of dysferlin protein in skeletal muscle, which is caused by mutations in the dysf (dystrophy-associated fer-1-like, DYSF) gene.
Solovyeva V., Starostina I., Shevchenko K., Isaev A., Rizvanov A., Deev R.   +5 more
core  

Миопатия Миоши: диагностика семейного случая дисферлинопатии

, 2016
Miyoshi myopathy (MM) is a rare distal form of limb-girdle muscular dystrophies characterized by weakness primarily affecting the calves in adolescence or young adulthood, with slow progression, the ascending pattern of involvement of muscle groups in an
O. P. Ryzhkova, А. В. Поляков, В. П. Федотов, V. P. Fedotov, A. V. Polyakov, О. П. Рыжкова   +5 more
core   +1 more source

Characterization of FER1L5, a novel dysferlin myoferlin related protein [PDF]

, 2009
The ferlins are mammalian homologues of the C-elegans sperm vesicle fusion protein FER-1 characterised by multiple C2 domains and a C-terminal anchor.
Ramachandran, Usha Kalyani
core  

Identification of glucocorticoid-related genes in systemic lupus erythematosus using bioinformatics analysis and machine learning.

PLoS ONE
BackgroundSystemic lupus erythematosus (SLE) is a complex autoimmune disease that has significant impacts on patients' quality of life and poses a substantial economic burden on society.ObjectiveThis study aimed to elucidate the molecular mechanisms ...
Yinghao Ren, Weiqiang Chen, Yuhao Lin, Zeyu Wang, Weiliang Wang   +4 more
doaj   +1 more source