Results 81 to 90 of about 2,976 (183)

Insights into lipid accumulation in skeletal muscle in dysferlin-deficient mice

Journal of Lipid Research, 2019
Loss of dysferlin (DYSF) protein in humans results in limb-girdle muscular dystrophy 2B, characterized by progressive loss of muscles in the distal limbs with impaired locomotion.
Anil K. Agarwal, Katie Tunison, Matthew A. Mitsche, Jeffrey G. McDonald, Abhimanyu Garg   +4 more
doaj   +1 more source

Comparison of ovarian mRNA expression levels in wild and hatchery-produced greater amberjack Seriola dumerili

Scientific Reports
The greater amberjack Seriola dumerili is a promising candidate for aquaculture production. This study compares the ovary transcriptome of greater amberjack sampled in the wild (WILD) with hatchery-produced breeders reared in aquaculture sea cages in the
Anna Lavecchia, Caterina De Virgilio, Luigi Mansi, Caterina Manzari, Constantinos C. Mylonas, Ernesto Picardi, Chrysovalentinos Pousis, Sharon N. Cox, Gianluca Ventriglia, Rosa Zupa, Graziano Pesole, Aldo Corriero   +11 more
doaj   +1 more source

Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect

Orphanet Journal of Rare Diseases, 2020
Background Limb-girdle muscular dystrophies are a group of genetically heterogeneous diseases that are inherited in both autosomal dominant (LGMDD) and autosomal recessive forms (LGMDR), the latter is more common especially in populations with high ...
Marzieh Mojbafan, Reza Bahmani, Samira Dabbagh Bagheri, Zohreh Sharifi, Sirous Zeinali   +4 more
doaj   +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  

Full-length Dysferlin Transfer by the Hyperactive Sleeping Beauty Transposase Restores Dysferlin-deficient Muscle

Molecular Therapy: Nucleic Acids, 2016
Dysferlin-deficient muscular dystrophy is a progressive disease characterized by muscle weakness and wasting for which there is no treatment. It is caused by mutations in DYSF, a large, multiexonic gene that forms a coding sequence of 6.2 kb.
Helena Escobar, Verena Schöwel, Simone Spuler, Andreas Marg, Zsuzsanna Izsvák   +4 more
doaj   +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

Brain of miyoshi myopathy/dysferlinopathy patients presents with structural and metabolic anomalies

Scientific Reports
Miyoshi myopathy/dysferlinopathy (MMD) is a rare muscle disease caused by DYSF gene mutations. Apart from skeletal muscles, DYSF is also expressed in the brain.
Petra Hnilicova, Marian Grendar, Monika Turcanova Koprusakova, Alzbeta Trancikova Kralova, Jana Harsanyiova, Martin Krssak, Ivica Just, Nadezda Misovicova, Martina Hikkelova, Jan Grossmann, Peter Spalek, Iveta Meciarova, Egon Kurca, Norbert Zilka, Kamil Zelenak, Wolfgang Bogner, Martin Kolisek   +16 more
doaj   +1 more source

Bis I inhibited PMA-induced DYSF expression in a dose-dependent manner.

, 2013
Cells were treated with 0.25% DMSO (CTRL), 10 nM PMA, or 10 nM PMA plus 0.1 or 1.0 µM Bis I for 72 h. Cell lysates were generated and immunoblots were probed with anti-DYSF.
William E. Ackerman IV (155503), Dale D. Vandre (483968), Waka Omata (483967), John M. Robinson (203671)   +3 more
core   +1 more source

A comparison of AAV strategies distinguishes overlapping vectors for efficient systemic delivery of the 6.2 kb Dysferlin coding sequence

Molecular Therapy: Methods & Clinical Development, 2015
Recombinant adeno-associated virus (rAAV) is currently the best vector for gene delivery into the skeletal muscle. However, the 5-kb packaging size of this virus is a major obstacle for large gene transfer.
Marina Pryadkina, William Lostal, Nathalie Bourg, Karine Charton, Carinne Roudaut, Matthew L Hirsch, Isabelle Richard   +6 more
doaj   +1 more source

Genetic and phenotypic characteristics of 3 patients with limb-girdle muscular dystrophy: experience in a medical center in Mexico

Egyptian Journal of Medical Human Genetics
Introduction Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of genetically inherited muscular disorders. Due to the inherent phenotypic variation among different LGMD forms, clinical diagnosis remains challenging.
Valentina Martínez-Montoya, Alejandro Martínez-Herrera, Oscar Mancera-Páez, Alberto Hidalgo-Bravo, María R. Rivera-Vega   +4 more
doaj   +1 more source