Results 141 to 150 of about 2,221 (162)

P.5.2 A comparison of muscle imaging in DYSF and ANO5 related muscular dystrophies

Neuromuscular Disorders, 2013
In this descriptive retrospective and cross-sectional study we compared muscle images of patients with Miyoshi distal myopathy phenotype (MMD1 and MMD3) to limb girdle muscular dystrophy 2L (LGMD2L) patients. MMD1 and MMD3 are genetically heterogenous diseases based on DYSF and ANO5 gene defects. MMD3 and LGMD2L are clinically different diseases caused
L. ten Dam, A.J. van der Kooi, F. Rövekamp, W.H. Linssen, M. de Visser   +4 more
openaire   +1 more source

Exclusion of Mutations in the Dysferlin Alternative Exons 1 of DYSF-v1 , 5a, and 40a in a Cohort of 26 Patients

Genetic Testing and Molecular Biomarkers, 2010
Mutations in the gene encoding dysferlin (DYSF; MIM# 603009, 2p13, GenBank NM_003494.2) cause primary dysferlinopathies, which are autosomal recessive muscular dystrophies. DYSF has a large mutational spectrum, and genetic diagnosis is complicated by incomplete mutation detection rates.
Krahn, Martin, Labelle, Veronique, Borges, Ana, Bartoli, Marc, Lévy, Nicolas   +4 more
openaire   +3 more sources

Dysferlinopathy, with mild cardiac involvement, from a novel mutation of DYSF gene

QJM: An International Journal of Medicine, 2023
J Y Shen, K Prasad, L L Goh, S Angkodjojo, C Y Khoo, T Umapathi   +5 more
openaire   +2 more sources

Unexpected extra exon skipping in the DYSF gene during restoring the reading frame by CRISPR/Cas9

BioSystems
The DYSF gene encoding dysferlin protein is one of the largest and has many transcripts. Pathogenic variants in the gene can lead to various types of myopathies, which makes it a good object for studying the events occurring in it during genome editing by the CRISPR/Cas method.
Olga Levchenko, Irina Panchuk, Konstantin Kochergin-Nikitsky, Irina Petrova 0003, Sabina Nagieva, Maxim Pilkin, Ivan Yakovlev, Svetlana Smirnikhina, Roman Deev, Alexander Lavrov   +9 more
openaire   +2 more sources

Development of an in vitro model of dysferlinopathy via crispr/cas-mediated transcriptional activation of the dysf gene

Citologiâ
Scientists need cell models from human tissues to develop methods of gene therapy and genome editing for monogenic diseases. It is preferable to use minimally invasive methods to obtain samples; these tissues can be applied for further screening in order to select the most effective approach to restore the synthesis of the target protein.
I. A. Yakovlev, Y. S. Slesarenko, I. G. Starostina, A. A. Shaimardanova, V. V. Solovyova, P. A. Bobrovsky, E. N. Grafskaia, L. D. Belikova, S. N. Bardakov, A. A. Rizvanov, A. A. Isaev, R. V. Deev   +11 more
openaire   +1 more source

Proteinfehlfaltung als Ursache der Muskeldystrophie Dysferlinopathie: Das Mausmodell Dysf-MMex38

2018
The aim of this thesis was the characterization of the newly generated MMex38- mouse model. It is the first animal model for the limb girdle muscular dystrophy dysferlinopathy, which is caused by a missense mutation and protein misfolding. Dysferlinopathy is a rare autosomal recessive muscle disease.
openaire   +1 more source

A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B

International Journal of Molecular Sciences, 2022
Patrizia Spadafora, Antonio Qualtieri, Francesca Cavalcanti   +2 more
exaly  

The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype–phenotype relationship and a hotspot on the inner DysF domain

Human Mutation, 2020
Naoki Suzuki, Tetsuya Niihori, Hiroya Ono   +2 more
exaly  

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

Genes, 2023
Joonhong Park, Young Jae Moon, Park Joonhong   +2 more
exaly  

Dysferlinopathy due to a homozygous DYSF DysF-domain variant in a non-consanguineous Tunisian family

Molecular Biology Reports
Ikhlass Belhassen, Pedro M. Rodríguez Cruz, Salma Sakka, Juliette Nectoux, Sawsan Daoued, Chokri Mhiri, France Leturcq, Mariem Dammak   +7 more
openaire   +1 more source