Results 161 to 170 of about 2,976 (183)

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

DYSF expression in clear cell renal cell carcinoma: A retrospective study of 2 independent cohorts

Urologic Oncology: Seminars and Original Investigations, 2019
Renal cell carcinoma (RCC) is the most typical type of kidney cancer in adults. Hypercalcemia is a well known paraneoplastic syndrome associated with RCC and recent studies have reported that hypercalcemia is closely related to the poor prognosis of RCC patients. Clear cell RCC (ccRCC) is the most common and aggressive subtype of RCC.
Mihyang Ha, Hoim Jeong, Jong Seong Roh, Beomgu Lee, Myoung-Eun Han, Sae-Ock Oh, Dong Hyun Sohn, Yun Hak Kim   +7 more
openaire   +2 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   +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
openaire   +1 more source

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   +2 more sources

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

International Journal of Molecular Sciences, 2022
Francesca Cavalcanti, Patrizia Spadafora, Luigi Citrigno   +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
Hitoshi Warita, Naoki Suzuki, Tetsuya Niihori   +2 more
exaly  

Emočně-sociální obtíže u dětí s vývojovou dysfázií

Listy Klinické Logopedie, 2021
Barbora Richtrová
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
exaly