Results 181 to 190 of about 4,375 (200)

Molecular landscape ofDYSFmutations in dysferlinopathy: From a Chinese multicenter analysis to a worldwide perspective

Human Mutation, 2021
Dysferlinopathy is one of the most common subgroup of autosomal recessive limb-girdle muscular dystrophies that is caused by mutations in DYSF gene. However, there is currently no worldwide comprehensive genetic analysis of DYSF variants. Through a national multicenter collaborative effort in China, we identified 222 DYSF variants with 40 novel ...
Huahua Zhong, Meng Yu, Pengfei Lin, Zhe Zhao, Xueying Zheng, Jianying Xi, Wenhua Zhu, Yiming Zheng, Wei Zhang, He Lv, Chuanzhu Yan, Jing Hu, Zhaoxia Wang, Jiahong Lu, Chongbo Zhao, Sushan Luo, Yun Yuan   +16 more
openaire   +2 more sources

Pathogenic mutation R959W alters recognition dynamics of dysferlin inner DysF domain

Molecular BioSystems, 2016
We have used atomistic simulations to demonstrate that the pathogenic mutation R959W alters recognition dynamics of dysferlin inner DysF domain. Based on these simulations, we propose a novel role for the inner DysF domain in muscle membrane repair through recruitment of dysferlin to plasma membrane.
openaire   +2 more sources

Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation

Neuroreport, 2001
The SJL mouse strain has been widely used as an animal model for experimental autoimmune encephalitis (EAE), inflammatory muscle disease and lymphomas and has also been used as a background strain for the generation of animal models for a variety of diseases including motor neurone disease, multiple sclerosis and atherosclerosis. Recently the SJL mouse
Vafiadaki, E., Reis, A., Keers, S., Harrison, R., Anderson, L. V. B., Raffelsberger, T., Ivanova, S., Hoger, H., Bittner, R. E., Bushby, K., Bashir, R.   +10 more
openaire   +3 more sources

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

Compound heterozygous DYSF variants causing limb‐girdle muscular dystrophy type 2B in a Chinese family

The Journal of Gene Medicine, 2020
AbstractBackgroundThe dysferlin gene or the DYSF gene encodes the Ca2+‐dependent phospholipid‐binding protein dysferlin, which belongs to the ferlin family and is associated with muscle membrane regeneration and repair. Variants in the DYSF gene are responsible for limb‐girdle muscular dystrophy type 2B (LGMD2B), also called limb‐girdle muscular ...
Liangshan Li, Zhongcui Jing, Lei Cheng, Wenmiao Liu, Haiyan Wang, Yinglei Xu, Xueping Zheng, Xiaoling Yu, Shiguo Liu   +8 more
openaire   +2 more sources

P.173Ketogenic diet ameliorates dysferlinopathy phenotype in Dysf-/-mice by promoting mitochondrial function

Neuromuscular Disorders, 2019
Presentado a: 24th International Annual Congress of the World-Muscle-Society (WMS)en: Copenhagen, DENMARK, OCT 01-05 ...
C. Astorga, C. Basualto-Alarcon, P. Caviedes, J. Bevilacqua, J. Cárdenas   +4 more
openaire   +1 more source

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.
openaire   +1 more source

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

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