Results 141 to 150 of about 2,287 (160)

New nucleotide sequence variants of the DYSF gene, identified by the next-generation sequencing

Nauchno-prakticheskii zhurnal «Medicinskaia genetika, 2023
Введение. Среди поясно-конечностных мышечных дистрофий (ПКМД) по частоте встречаемости дисферлинопатия занимает второе место в мире после кальпаинопатии. Заболевание характеризуется относительно поздней манифестацией, а сходная клиническая картина в группе ПКМД в ряде случаев создает значимые сложности в дифференциальной диагностике.
А. А. Исаев, С. Н. Бардаков, Л.А. Мкртчян, Е.В. Мусатова, Д.Н. Хмелькова, М.В. Гусева, В.С. Каймонов, Ilia A. Iakovlev, R. V Deev   +8 more
openaire   +3 more sources

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

Neuromuscular Disorders, 2007
G Bassez, F Leturcq
exaly   +3 more sources

In vivo DYSF gene viral delivery provides a histoprotective effect in skeletal muscle tissue in dysferlin-deficient mice

Bulletin of Experimental Biology and Medicine, 2022
We studied the effects of a dual-vector DYSF gene delivery system based on adeno-associated virus serotype 9 capsids on pathological manifestations of dysferlinopathy in skeletal muscles of Bla/J mice lacking DYSF expression. The mice received intravenous injection of 3×1013 genomic copies of the virus containing the dual-vector system.
I A, Yakovlev, O N, Chernova, M O, Mavlikeev, I S, Limaev, K A, Blagodatskikh, A A, Titova, A M, Aimaletdinov, A A, Shaimardanova, A A, Rizvanov, S N, Bardakov, A A, Isaev, R V, Deev   +11 more
  +5 more sources

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

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   +3 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
  +5 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   +2 more sources

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

BioSystems, 2023
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   +3 more sources

A novel biallelic mutation in the DYSF gene as a cause of Miyoshi myopathy

Neurological Sciences
Qian Sun, Qiong-Qiong Li, Hai-Yan Lyu, Chun-Ni Guo, Lin-Yuan Zhang   +4 more
openaire   +2 more sources

Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies

Neuromuscular Disorders, 2014
In this retrospective cross-sectional study clinical and muscle imaging data of patients with Miyoshi distal myopathy phenotype (MMD1 and MMD3) and limb girdle muscular dystrophy 2L (LGMD2L) were described.
Leroy Ten Dam, Marianne De Visser
exaly   +2 more sources

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[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