Results 141 to 150 of about 2,976 (183)

DAB2 in LGMD R2: a molecular link between disease progression and lipid dysregulation. [PDF]

JCI Insight
Bruge C, Bourg N, Pellier E, Miagoux Q, Benabides M, Grossi N, Hayat H, Jarrige M, Polveche H, Agostini V, Brureau A, Vassilopoulos S, Evangelista T, Fernández-Eulate G, Stojkovic T, Richard I, Nissan X.   +16 more
europepmc   +1 more source

Limb-Girdle Muscular Dystrophy Type 2B and Morbihan Disease: A Case Report With an Atypical Presentation. [PDF]

Cureus
Briceño Moya F, Hernández Hernández AB, Delgado Carmona DK.   +2 more
europepmc   +1 more source

Identification of neutrophil extracellular trap-related biomarkers in ulcerative colitis based on bioinformatics and machine learning. [PDF]

Front Genet
Li J, Liu Y, Sun Z, Zeng S, Zheng C.
europepmc   +1 more source

Estimating the Prevalence of Autosomal Recessive Neuromuscular Diseases in the Korean Population. [PDF]

J Korean Med Sci
Kim SH, Choi Y, Choi YC, Kim SW, Shin HY, Park HJ.   +5 more
europepmc   +1 more source

UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene† [PDF]

Human Mutation, 2012
International audienceMutations in the dysferlin gene (DYSF) lead to a complete or partial absence of the dysferlin protein in skeletal muscles and are at the origin of dysferlinopathies, a heterogeneous group of rare autosomal recessive inherited ...
Nicolas Levy, Laura E. Rufibach, Dalil Hamroun   +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, Xueqin Song, Hongran Wu
exaly   +3 more sources

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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