Results 161 to 170 of about 3,486 (173)

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, Sabina Nagieva, Maxim Pilkin, Ivan Yakovlev, Svetlana Smirnikhina, Roman Deev, Alexander Lavrov   +9 more
openaire   +2 more sources

Behavioral variant frontotemporal dementia and the DYSF gene: causal relationship or coincidence? A case report

Arquivos de Neuro-Psiquiatria
Case presentation: The patient is a 75-year-old woman, daughter of consanguineous parents, with a family history of muscular dystrophy and neurofibromatosis, but no reported familial cases of dementia. She was diagnosed with behavioral variant (bv) frontotemporal dementia (FTD) at the age of 65, presenting symptoms such as forgetfulness, visual ...
Thamires Marx da Silva Santos, Paulo Caramelli, Leonardo Cruz de Souza, Elisa de Paula França Resende   +2 more
openaire   +1 more source

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

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

[Analysis of DYSF gene mutations in two pedigrees affected with limb-girdle muscular dystrophy type 2B].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2019
To analyze mutations of DYSF gene in two pedigrees affected with limb-girdle muscular dystrophy 2B (LGMD-2B).Genomic DNA was extracted from peripheral blood samples of the two probands and unaffected family members. Variant sites were screened by next-generation sequencing using gene panel as well as Sanger sequencing.Four pathogenic mutations of the ...
Zhenjun, Liu, Hong, Liao, Xuemei, Zhang, Haixia, Zhang, Hongqian, Liu, He, Wang, Shanling, Liu   +6 more
openaire   +1 more source

G.P.4.01 Mutational spectrum of the DYSF gene based on a large cohort of dysferlin deficient patients

Neuromuscular Disorders, 2007
M. Krahn, R. Bernard, K. Nguyen, V. Labelle, G. Bassez, D. Figarella-Branger, J. Pouget, E. Di Salvo, E. Hammouda, C. Béroud, B. Eymard, J.A. Urtizberea, F. Leturcq, N. Lévy   +13 more
openaire   +1 more source

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
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
Masashi Aoki, Naoki Suzuki, Tetsuya Niihori   +2 more
exaly  

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

Human Mutation, 2012
Gaelle Blandin, Christophe Beroud, Karine Nguyen   +2 more
exaly  

Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B

Nature Genetics, 1999
Elizabeth Vafiadaki, Hans Lassmann, André Reis   +2 more
exaly