Results 121 to 130 of about 2,221 (162)

Pompe disease: a country-wide molecular screening in a cohort of 15,068 study participants. [PDF]

Front Mol Biosci
Pushkov A, Chudakova D, Zhanin I, Nikitin S, Basargina E, Kuzenkova L, Andreeva D, Vasil'eva M, Vasichkin S, Gabitova A, Gaisina E, Saifullina E, Gamzatova A, Gilvanova O, Dudin V, Ergina O, Kurbatov S, Noskova E, Osipova E, Tihonova O, Fedotova E, Nuzhny E, Chernikova V, Yamshchikova A, Kyzina L, Irinina N, Rohlenko O, Kutkova Y, Popkova N, Ahunova A, Alexeeva A, Mazanova N, Sdvigova N, Gandaeva L, Zharova O, Podkletnova T, Sukhozhenko A, Rusakova A, Demianov D, Pakhomov A, Fisenko A, Savostyanov K.   +41 more
europepmc   +1 more source

Pyroptosis-Related Molecular Clusters and Immune Infiltration in Pediatric Sepsis. [PDF]

Pediatric Health Med Ther
Lin M, Li C, Wang Y, Liu J, Ye H.
europepmc   +1 more source

Boldo Restores Vascularization and Reduces Skeletal Muscle Inflammation in Symptomatic Mice with Dysferlinopathy. [PDF]

Int J Mol Sci
Vásquez W, Troncoso F, Lira A, Escudero C, Sáez JC.   +4 more
europepmc   +1 more source

Pex30-dependent membrane contacts sites maintain ER lipid homeostasis

Ferreira JV, Ahmed Y, Heunis T, Jain A, Johnson E, Raeschle M, Ernst R, Vanni S, Carvalho P.   +8 more
europepmc   +1 more source

Analysis of theDYSFmutational spectrum in a large cohort of patients [PDF]

Human Mutation, 2009
Dysferlinopathies belong to the heterogeneous group of autosomal recessive muscular dystrophies. Mutations in the gene encoding dysferlin (DYSF) lead to distinct phenotypes, mainly Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM).
Martin Krahn, Christophe Beroud, Véronique Labelle   +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.
Qianyun Deng, 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 ...
Guo-Dong Gao, Yang Zou, Gao Guo-Dong
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