Results 21 to 30 of about 2,287 (160)

High Prevalence of a c.5979dupA Variant in the Dysferlin Gene (DYSF) in Individuals from a Semiarid Region of Brazil [PDF]

Current Genomics, 2023
Background: Dysferlinopathies represent a group of limb girdle or distal muscular dystrophies with an autosomal-recessive inheritance pattern resulting from the presence of pathogenic variants in the dysferlin gene (DYSF). Objective: In this work, we describe a population from a small city in Brazil carrying the c.5979dupA pathogenic variant of DYSF
Motta, Isabella A., Gouveia, Maria L.A., Braga, Ana P.M., Andrade, Rafael S., Montenegro, Mayra F.F., Gurgel, Sandra N., Albuquerque, Keila M.F., Souto, Priscilla A.N.G., Cardoso, Flávia P.B.F., Araujo, Joseane S., Pinheiro, Mirella C.L., da Silva, Carlos E.P., Gurgel, Pamella A.S., Feder, David, Perez, Matheus M., da Veiga, Glaucia L., Alves, Beatriz C.A., Fonseca, Fernando L.A., Carvalho, Alzira A.S.   +18 more
openaire   +3 more sources

Identification of Novel Antisense-Mediated Exon Skipping Targets in DYSF for Therapeutic Treatment of Dysferlinopathy [PDF]

Molecular Therapy: Nucleic Acids, 2018
Dysferlinopathy is a progressive myopathy caused by mutations in the dysferlin (DYSF) gene. Dysferlin protein plays a major role in plasma-membrane resealing.
Joshua J.A. Lee, Rika Maruyama, William Duddy, Hidetoshi Sakurai, Toshifumi Yokota   +4 more
doaj   +2 more sources

Exon Skipping in a Dysf-Missense Mutant Mouse Model [PDF]

Molecular Therapy: Nucleic Acids, 2018
Limb girdle muscular dystrophy 2B (LGMD2B) is without treatment and caused by mutations in the dysferlin gene (DYSF). One-third is missense mutations leading to dysferlin aggregation and amyloid formation, in addition to defects in sarcolemmal repair and
Jakub Malcher, Leonie Heidt, Aurélie Goyenvalle, Helena Escobar, Andreas Marg, Cyriaque Beley, Rachid Benchaouir, Michael Bader, Simone Spuler, Luis García, Verena Schöwel   +10 more
doaj   +2 more sources

Genetically confirmed limb-girdle muscular dystrophy type 2B with DYSF mutation using gene panel sequencing

Medicine, 2020
Abstract Rationale: The limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of disorders characterized by progressive proximal muscle weakness and have more than 30 different subtypes linked to specific gene loci, which manifest as highly overlapping and heterogeneous phenotypes.
Sook Joung Lee, Eunseok Choi, Soyoung Shin, Joonhong Park   +3 more
openaire   +3 more sources

Generation of a novel Dysferlin microdeletion knock-in mouse model mimicking muscular dystrophy–like pathology [PDF]

Scientific Reports
Limb-Girdle Muscular Dystrophy type R2 (LGMD-R2) is caused by mutations in the DYSFERLIN (DYSF) gene, leading to progressive muscle weakness and defective membrane repair. In our previous study, we identified a novel five-nucleotide microdeletion in DYSF
Yen-Lin Chen, Wei-Ning Lin, Pei-Yi Pan, Wei-Chi Ku, Pei Wang, Ping-Keung Yip, Ko-Chung Tsui, Yi-No Wu, Ying-Hung Lin   +8 more
doaj   +2 more sources

Bent Spine Syndrome: A Phenotype of Dysferlinopathy or a Symptomatic DYSF Gene Mutation Carrier [PDF]

European Neurology, 2012
Bent spine syndrome : a phenotype of dysferlinopathy or a symptomatic DYSF gene mutation ...
István Gáti, Olof Danielsson, Cecilia Gunnarsson, Magnus Vrethem, Bo Häggqvist, Bengt-Arne Fredriksson, Anne-Marie Landtblom   +6 more
openaire   +2 more sources

Clinical and Genetic Analysis of Korean Patients with Miyoshi Myopathy: Identification of Three Novel Mutations in the DYSF Gene [PDF]

Journal of Korean Medical Science, 2006
Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy caused by mutations in the dysferlin gene (DYSF) on chromosome 2p13. Although MM patients and their mutations in the DYSF gene have been found from all over the world, there is only one report of genetically confirmed case of MM in Korea.
Cho, Hyun-Jung, Sung, Duck Hyun, Kim, Eun-Jin, Yoon, Chul Ho, Ki, Chang-Seok, Kim, Jong-Won   +5 more
openaire   +4 more sources

A Dysferlin Exon 32 Nonsense Mutant Mouse Model Shows Pathological Signs of Dysferlinopathy

Biomedicines, 2023
Dysferlinopathies are a group of autosomal recessive muscular dystrophies caused by pathogenic variants in the DYSF gene. While several animal models of dysferlinopathy have been developed, most of them involve major disruptions of the Dysf gene locus ...
Océane Ballouhey, Marie Chapoton, Benedicte Alary, Sébastien Courrier, Nathalie Da Silva, Martin Krahn, Nicolas Lévy, Noah Weisleder, Marc Bartoli   +8 more
doaj   +2 more sources

Novel homozygous mutation in DYSF gene with limb-girdle muscular dystrophy type 2B through whole exome sequencing in Iran [PDF]

, 2023
Abstract Limb-girdle muscular dystrophy (LGMD) is a type of genetically heterogeneous disorders. The goal of current training is discovering novel mutations or deletion in an Iranian family with limb-girdle muscular dystrophy type 2B patient by whole exome sequencing.
Mandana Rastegar, Aazam Ahmadi Shadmehri, Mohammad Dehghani Firoozabadi, Zahra Sorosh, Hossein Dehghani, negin parsamanesh   +5 more
openaire   +2 more sources

Dysregulation of testis mRNA expression levels in hatchery-produced vs wild greater amberjack Seriola dumerili [PDF]

Scientific Reports, 2023
Reproductive dysfunctions have been recently documented in male greater amberjack Seriola dumerili caught from the wild and reared in captivity. In the present study, we compared testis transcriptome in wild fish (WILD), hatchery-produced fish with ...
Anna Lavecchia, Caterina Manzari, Chrysovalentinos Pousis, Luigi Mansi, Sharon N. Cox, Constantinos C. Mylonas, Rosa Zupa, Claudio Lo Giudice, Caterina De Virgilio, Ernesto Picardi, Gianluca Ventriglia, Graziano Pesole, Aldo Corriero   +12 more
doaj   +2 more sources