Results 11 to 20 of about 2,287 (160)

In Vitro Correction of Point Mutations in the <i>DYSF</i> Gene Using Prime Editing. [PDF]

Int J Mol Sci
Dysferlinopathy is caused by over 500 mutations in the gene encoding dysferlin, including close to 300 point mutations. One option to cure the disease is to use a gene therapy to correct these mutations at the root. Prime editing is a technique which can replace the mutated nucleotide with the wild-type nucleotide.
Bouchard C, Rousseau J, Lamothe G, Dubost M, Bastrenta L, Ramezani S, Tremblay JP.   +6 more
europepmc   +6 more sources

Miyoshi Muscular Dystrophy Type 1 with Mutated DYSF Gene Misdiagnosed as Becker Muscular Dystrophy: A Case Report and Literature Review. [PDF]

Genes (Basel), 2023
Dysferlinopathy covers a spectrum of muscle disorder categorized by two major phenotypes, namely Miyoshi muscular dystrophy type 1 (MMD1, OMIM #254130) and limb-girdle muscular dystrophy autosomal recessive 2 (LGMDR2, OMIM #253601), and two minor symptoms, including asymptomatic hyperCKemia and distal myopathy with anterior tibial onset (DMAT, OMIM ...
Park J, Moon YJ, Kim DS.
europepmc   +6 more sources

Association of Functional Gene Variants in DYSF-ZNF638, MTSS1 and Ferroptosis-Related Genes with Multiple Sclerosis Severity and Target Gene Expression. [PDF]

Int J Mol Sci
Multiple sclerosis (MS) is a chronic inflammatory, neurodegenerative disease with yet-unresolved mechanisms of progression. To address MS severity and neurological deficits, we analyzed seven potentially functional genetic variants and their haplotypes in 845 MS patients.
Djuric T, Djordjevic A, Kuveljic J, Stefanovic M, Dincic E, Kolakovic A, Zivkovic M.   +6 more
europepmc   +7 more sources

Assessment of physiological parameters in the application of a double adeno-associated virus 9 with a codon-optimized DYSF gene for limb girdle muscular dystrophy type R2

Research Results in Pharmacology
Introduction: Gene therapy for Myoshi myopathy is extremely relevant, as it may become the first pathogenetic treatment for dysferlinopathy. The aim of this study was to study the efficacy and safety of the use of a genetic construct, the AAV9-DYSF-DV3 ...
Elеna V. Kuzubova, Alexandra I. Radchenko, Andrey А. Manuylov, Ariana M. Korokina, Natalia V. Koroleva, Ivan A. Yakovlev, Arthur A. Isaev, Roman V. Deev, Mikhail V. Korokin   +8 more
doaj   +5 more sources

UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene [PDF]

Human Mutation, 2011
Mutations in the dysferlin gene (DYSF) lead to a complete or partial absence of the dysferlin protein in skeletal muscles and are at the origin of dysferlinopathies, a heterogeneous group of rare autosomal recessive inherited neuromuscular disorders.
Blandin, Gaëlle, Béroud, Christophe, Labelle, Veronique, Nguyen, Karine, Wein, Nicolas, Hamroun, Dalil, Williams, Brad, Monnier, Nilah, Rufibach, Laura E., Urtizberea, Jon Andoni, Cau, Pierre, Bartoli, Marc, Lévy, Nicolas, Krahn, Martin   +13 more
core   +6 more sources

Novel duplication mutation of the DYSF gene in a Pakistani family with Miyoshi Myopathy. [PDF]

Saudi Med J, 2017
To identify the underlying gene mutation in a large consanguineous Pakistani family.  Methods: This is an observational descriptive study carried out at the Department of Biochemistry, Shifa International Hospital, Quaid-i-Azam University, and Atta-ur-Rahman School of Applied Biosciences, National University of Sciences and Technology, Islamabad ...
Ullah MI, Ahmad A, Zarkovic M, Shah SS, Nasir A, Mahmood S, Ahmad W, Hubner CA, Hassan MJ.   +8 more
europepmc   +6 more sources

A novel mutation in the DYSF gene in a patient with a presumed inflammatory myopathy

Neuropathology, 2018
Dysferlinopathy, a progressive muscular dystrophy, results from mutations in the Dysferlin gene (DYSF, MIM*603009). Traditional diagnosis relies on the reduction or absence of dysferlin. However, altered dysferlin has been observed in other myopathies, leading to a precise diagnosis through molecular genetics. In this study, we report a patient who was
Jin Tang, Xueqin Song, Hongran Wu
exaly   +4 more sources

Uncovering compound heterozygous DYSF variants in a Chinese family affected by limb-girdle muscular dystrophy type 2B [PDF]

Frontiers in Genetics
This case concerns a Chinese female patient who was referred to our clinic having complained of weakness in her lower limbs. Following a series of diagnostic procedures, including electrophysiology, muscle biopsy and genetic analysis, the patient was ...
Jinlan Li, Jinlan Li, Jie Zhou, Jie Zhou, Chunbo Ji, Chunbo Ji, Siqing Ma, Siqing Ma, Jianying Zhu, Jianying Zhu, Tiejun Yang, Tiejun Yang, Danyang Dong, Danyang Dong, Yang Ping   +14 more
doaj   +4 more sources

Identification of a Novel Founder Mutation in the DYSF Gene Causing Clinical Variability in the Spanish Population

Archives of Neurology, 2005
Mutations in the dysferlin (DYSF) gene cause 3 different phenotypes of muscular dystrophies: Miyoshi myopathy, limb-girdle muscular dystrophy type 2B, and distal anterior compartment myopathy.To present the results of clinical and molecular analysis of 8 patients with dysferlinopathy from 5 unrelated families.Clinical assessment was performed with a ...
Juan J Vílchez, Eduard Gallardo, Noémi De Luna   +2 more
exaly   +5 more sources

DYSF Gene [PDF]

, 2020
National Cancer Institute
core   +3 more sources