Results 51 to 60 of about 2,516,635 (116)

Miyoshi Muscular Dystrophy Due to Novel Splice Site Variants in DYSF Gene. [PDF]

Child Neurol Open, 2022
Bryant G, Moore SA, Nix JS, Rice G, Gokden M, Veerapandiyan A.   +5 more
europepmc   +1 more source

Two common mutations (p.Gln832X and c.663+1G>C) account for about a third of the DYSF mutations in Korean patients with dysferlinopathy

, 2012
Dysferlinopathy refers to autosomal recessive muscular dystrophies caused by mutations in dysferlin gene (DYSF). It includes two major distinct disorders, Miyoshi myopathy and limb-girdle muscular dystrophy type 2B.
최영철
core   +1 more source

Generation of a human induced pluripotent stem cell line from a Dysferlinopathy patient carrying mutations in DYSF gene

An induced pluripotent stem cell (hiPSC) line (CUKi002-A) was generated from fibroblasts of a male patient with Dysferlinopathy using lentiviral delivery of the reprogramming factors OCT4, SOX2, KLF4, and c-MYC.
Jae-in Ryu, Kee-Pyo Kim, Myunghyun Kim, Borami Shin, Ji-Young Mun, Jisun Kim, Johnny Kim, Dong-Hyun Kim, SooJin Kim, Jangjoong Kim   +9 more
core   +1 more source

O.11 Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy

, 2022
Dysferlinopathy is an autosomal recessive muscular dystrophy, caused by bi-allelic variants in the gene encoding dysferlin (DYSF). Onset typically occurs in the second to third decade and is characterised by slowly progressive skeletal muscle weakness ...
Ravenscroft, G., Hayhurst, H., Laing, N., Folland, C., Gomez, A.B., Trajanoski, D., Johnsen, R., Davis, M., Schaefer, A., Guglieri, M., Barresi, R., Lamont, P., Moore, U., Straub, V.   +13 more
core  

Vascular delivery of rAAV5.DYSF effectively transduces the lower hindlimb muscles of Dysferlin deficient mice.

, 2012
rAAV5.DYSF (1012 vg) was delivered via the femoral artery to the hindlimb of 3–4 week old Dysf−/− mice. (A) Four weeks post transfer, immunostaining demonstrated dysferlin expression in treated animals (right). (B) Western blot confirmed 237 kd dysferlin
Chrystal L. Montgomery (157807), Vinod Malik (157794), Paul M. L. Janssen (139609), William E. Grose (157775), Jerry R. Mendell (157821), Kimberly M. Shontz (157801), Robert H. Brown Jr. (157813), Danielle Griffin (157787), K. Reed Clark (157780), Louise R. Rodino-Klapac (157827), Sarah Lewis (70866)   +10 more
core   +1 more source

Molecular analysis of LGMD-2B and MM patients: Identification of novel DYSF mutations and possible founder effect in the Italian population

, 2003
Dysferlin, the protein product of the dysferlin gene (DYSF), has been shown to have a role in calcium-induced membrane fusion and repair. Dysferlin is absent or drastically reduced in patients with the following autosomal recessive disorders: limb-girdle
COMI, G. P., LOCATELLI, F., TOSCANO, Antonio, BRESOLIN, N., RODOLICO, Carmelo, PRELLE, A., FORTUNATO, F., CAGLIANI, R., SIRONI, A., D'ANGELO, M. G., GIORDA, R., BONAGLIA, M. C.   +11 more
core   +1 more source

Identification of a Dysferlin Gene Mutation in One Patient Showing Clinical Manifestation of Miyoshi Myopathy [PDF]

, 2009
Miyoshi myopathy (MM) is caused by the mutations of dysferlin gene (DYSF), which impairs the function of dysferlin protein causing muscle membrane dysfunction.
최영철
core  

Studies on muscular dystrophy associated genes [PDF]

, 2007
Muscular dystrophy is a collective group of genetic disorder that results in progressive wasting of skeletal muscle. Dysferlin, the gene responsible for Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi Myopathy (MM) was found to be a member of
Bakir, Hadil
core  

Multiple sclerosis severity variant in DYSF-ZNF638 locus associates with neuronal loss and inflammation [PDF]

The genetic variant rs10191329AA has been identified to associate with faster disability accrual in multiple sclerosis (MS). We investigated the impact of rs10191329AA carriership on MS pathology and flanking genes dysferlin (DYSF) and zinc finger ...
Melief, Marie José, Chen, J. Q.Alida, Huitinga, Inge, van den Bosch, Aletta M.R., Hsiao, Cheng Chih, Engelenburg, Hendrik J., Smolders, Joost; id_orcid, Harroud, Adil, Hamann, Jörg   +8 more
core   +1 more source

Association of Functional Gene Variants in DYSF–ZNF638, MTSS1 and Ferroptosis-Related Genes with Multiple Sclerosis Severity and Target Gene Expression

Multiple sclerosis (MS) is a chronic inflammatory, neurodegenerative disease with yet-unresolved mechanisms of progression. To address MS severity and neurological deficits, we analyzed seven potentially functional genetic variants and their haplotypes ...
Maja Zivkovic, Tamara Djuric, Đurić, Tamara, Živković, Maja, Kolaković, Ana, Ana Djordjevic, Stefanović, Milan, Jovana Kuveljic, Dinčić, Evica, Đorđević, Ana, Ana Kolakovic, Kuveljić, Jovana, Evica Dincic, Milan Stefanovic   +13 more
core   +1 more source