Results 131 to 140 of about 2,221 (162)

Novel DYSF mutations in Thai patients with distal myopathy

Clinical Neurology and Neurosurgery, 2009
Dysferlinopathy refers to a variety of autosomal recessive, skeletal muscle disorders due to the mutations of dysferlin-encoding gene, DYSF. It encompasses limb-girdle muscular dystrophy type 2B (LGMD2B), Miyoshi myopathy (MM), distal myopathy with anterior tibial onset (DMAT), isolated hyperCKemia, rigid spine syndrome and congenital muscular ...
Teerin, Liewluck, Sunsanee, Pongpakdee, Rawiphan, Witoonpanich, Tumtip, Sangruchi, Theeraphong, Pho-Iam, Chanin, Limwongse, Wanna, Thongnoppakhun, Kanokwan, Boonyapisit, Varisa, Sopassathit, Suchart, Phudhichareonrat, Udom, Suthiponpaisan, Natte, Raksadawan, Kanako, Goto, Yukiko K, Hayashi, Ichizo, Nishino   +14 more
openaire   +2 more sources

DYSF mutation analysis in a group of Chinese patients with dysferlinopathy

Clinical Neurology and Neurosurgery, 2013
Dysferlinopathies belong to heterogeneous group of autosomal recessive muscular disorders caused by mutations in the gene encoding dysferlin. The classifications of the dysferlinopathies mainly include limb-girdle muscular dystrophy 2B (LGMD2B) with predominantly proximal weakness, Miyoshi myopathy (MM) with calf muscle weakness and atrophy, and distal
Zhe, Zhao, Jing, Hu, Yusuke, Sakiyama, Yuji, Okamoto, Itsuro, Higuchi, Na, Li, Hongrui, Shen, Hiroshi, Takashima   +7 more
openaire   +2 more sources

Identification of a novel heterozygous DYSF variant in a large family with a dominantly‐inherited dysferlinopathy

Neuropathology and Applied Neurobiology, 2022
Abstract Aims Dysferlinopathy is an autosomal recessive muscular dystrophy, caused by bi‐allelic variants in the gene encoding dysferlin ( DYSF ).
Folland C, Johnsen R, Botero Gomez A, Trajanoski D, Davis MR, Moore U, Straub V, Barresi R, Guglieri M, Hayhurst H, Schaefer AM, Laing NG, Lamont PJ, Ravenscroft G   +13 more
openaire   +3 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. MMD1 and MMD3 are genetically heterogenous diseases based on DYSF and ANO5 gene defects.
Leroy Ten Dam, Marianne De Visser
exaly   +3 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

Identification of a Novel Founder Mutation in the DYSF Gene Causing Clinical Variability in the Spanish Population

Archives of Neurology, 2005
Mutations in the dysferlin (DYSF) gene cause 3 different phenotypes of muscular dystrophies: Miyoshi myopathy, limb-girdle muscular dystrophy type 2B, and distal anterior compartment myopathy.To present the results of clinical and molecular analysis of 8 patients with dysferlinopathy from 5 unrelated families.Clinical assessment was performed with a ...
Juan J Vílchez, Eduard Gallardo, Noémi De Luna   +2 more
exaly   +4 more sources

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
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Pathogenic mutation R959W alters recognition dynamics of dysferlin inner DysF domain

Molecular BioSystems, 2016
Abstract Dysferlin, a 220 kD protein, plays a major role in regulating plasma membrane repair in muscle cells. Mutations in the dysferlin inner DysF domain are known to cause different types of muscular dystrophy, including limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM).
openaire   +2 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
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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