Results 171 to 180 of about 4,375 (200)

DYSF promotes monocyte activation in atherosclerotic cardiovascular disease as a DNA methylation-driven gene

Translational Research, 2022
Dysferlin (DYSF) has drawn much attention due to its involvement in dysferlinopathy and was reported to affect monocyte functions in recent studies. However, the role of DYSF in the pathogenesis of atherosclerotic cardiovascular diseases (ASCVD) and the regulation mechanism of DYSF expression have not been fully studied.
Fang Zheng
exaly   +3 more sources

Frequent DYSF rare variants/mutations in 152 Han Chinese samples with ovarian endometriosis

Archives of Gynecology and Obstetrics, 2021
Endometriosis is a common chronic gynecological disease greatly affecting women health. Prior studies have implicated that dysferlin (DYSF) aberration might be involved in the pathogenesis of ovarian endometriosis. In the present study, we explore the potential presence of DYSF mutations in a total of 152 Han Chinese samples with ovarian endometriosis ...
Yang Zou
exaly   +3 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
Mutations in the DYSF gene, encoding dysferlin, are responsible for Limb Girdle Muscular Dystrophy type R2/2B (LGMDR2/2B), Miyoshi myopathy (MM), and Distal Myopathy with Anterior Tibialis onset (MDAT). The size of the gene and the reported inter and intra familial phenotypic variability make early diagnosis difficult.
Patrizia Spadafora, Antonio Qualtieri, Francesca Cavalcanti   +2 more
exaly   +5 more sources

A novel mutation in the DYSF gene in a patient with a presumed inflammatory myopathy

Neuropathology, 2018
Dysferlinopathy, a progressive muscular dystrophy, results from mutations in the Dysferlin gene (DYSF, MIM*603009). Traditional diagnosis relies on the reduction or absence of dysferlin. However, altered dysferlin has been observed in other myopathies, leading to a precise diagnosis through molecular genetics. In this study, we report a patient who was
Jin Tang, Guang Ji
exaly   +3 more sources

REPARATIVE RHABDOMYOGENESIS IN MICE WITH DYSF MUTATION

Genes & Cells, 2019
Dysferlinopathies are a group of muscular dystrophies with autosomal-recessive inheritance caused by mutations in DYSF gene. Dysferlin is a 237 kDa transmembrane protein responsible for reparation of the sarcolemma. It has calcium-sensitive C2 domains and after dysferlin binding with calcium ions the first one activates vesicles fusion and patch ...
O. N Chernova, M. O Mavlikeev, A. K Zeynalova, A. P Kiyasov, R. V Deev   +4 more
openaire   +1 more source

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

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
exaly   +3 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 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 Vilchez, Pia Gallano, Eduard Gallardo   +2 more
exaly   +4 more sources

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

Nature Genetics, 1999
Dysferlin deletion in SJL mice (SJL- Dysf ) defines a natural model for limb girdle muscular dystrophy ...
Elizabeth Vafiadaki, Hans Lassmann, André Reis   +2 more
exaly   +3 more sources