Results 11 to 20 of about 3,486 (173)

Whole Exome Sequencing Identified a Stop-Gained Mutation in DYSF Gene Associated With Dysferlinopathy in an Iranian Family [PDF]

International Journal of Genomics
Discussion: Bioinformatics analyses and clinical findings confirmed the pathogenicity of this variant in a homozygous state, consistent with autosomal recessive inheritance.
Saba Baghshomali, Asiyeh Jebelli, Mina Kazemzadeh, Farzaneh Jalalypour, Mohammad Yazdchi, Amir Ali Mokhtarzadeh, Leila Emrahi   +6 more
doaj   +3 more sources

A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B. [PDF]

Int J Mol Sci, 2022
Mutations in the DYSF gene, encoding dysferlin, are responsible for Limb Girdle Muscular Dystrophy type R2/2B (LGMDR2/2B), Miyoshi myopathy (MM), and Distal Myopathy with Anterior Tibialis onset (MDAT). The size of the gene and the reported inter and intra familial phenotypic variability make early diagnosis difficult.
Spadafora P, Qualtieri A, Cavalcanti F, Di Palma G, Gallo O, De Benedittis S, Cerantonio A, Citrigno L.   +7 more
europepmc   +7 more sources

Dual Adeno-Associated Virus 9 with Codon-Optimized DYSF Gene Promotes In Vivo Muscle Regeneration and May Decrease Inflammatory Response in Limb Girdle Muscular Dystrophy Type R2. [PDF]

Int J Mol Sci, 2023
Dysferlinopathy treatment is an active area of investigation. Gene therapy is one potential approach. We studied muscle regeneration and inflammatory response after injection of an AAV-9 with a codon-optimized DYSF gene. A dual-vector system AAV.DYSF.OVERLAP with overlapping DYSF cDNA sequences was generated.
Yakovlev IA, Emelin AM, Slesarenko YS, Limaev IS, Vetrova IA, Belikova LD, Grafskaia EN, Bobrovsky PA, Pokrovsky MV, Kuzubova EV, Pokrovsky VM, Lebedev PA, Bardakov SN, Isaev AA, Deev RV.   +14 more
europepmc   +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, Guang Ji, Hongran Wu, Shuyan Sun, Shan Lu, Yuan Li, Chi Zhang, Huiqing Zhang   +8 more
openaire   +4 more sources

Identification of a Novel Founder Mutation in the DYSF Gene Causing Clinical Variability in the Spanish Population

Archives of Neurology, 2005
Mutations in the dysferlin (DYSF) gene cause 3 different phenotypes of muscular dystrophies: Miyoshi myopathy, limb-girdle muscular dystrophy type 2B, and distal anterior compartment myopathy.To present the results of clinical and molecular analysis of 8 patients with dysferlinopathy from 5 unrelated families.Clinical assessment was performed with a ...
Ramírez P, Gallano P, Gallardo E, Lasa A, Rojas-García R, Freixas A, De Luna N, Calafell F, Sevilla T, Mayordomo F, Baiget M, Illa I   +11 more
openaire   +5 more sources

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

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   +3 more sources

Exon Skipping in a Dysf-Missense Mutant Mouse Model

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   +3 more sources

Genomics Insights Into High-Latitude Adaptation of Tibetan Macaques. [PDF]

Adv Sci (Weinh)
Tibetan macaques exhibit unique adaptations to cold, high‐latitude environments, including shortened tails and enhanced fat storage. Genomic analyses reveal a species‐specific TBX6 mutation linked to tail reduction and selection on lipid metabolism genes.
Zhang R, Hu Y, Teng Y, Qi J, Ciren Y, Zhang L, Du Q, Xu W, Zhou L, Fan Z, Xing J, Li M, Li J.   +12 more
europepmc   +2 more sources

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

Child Neurol Open, 2022
Dysferlinopathies are a group of phenotypically heterogeneous disorders caused by pathogenic variants in the DYSF (DYStrophy-associated Fer-1-like) gene encoding dysferlin. The phenotypic spectrum includes Miyoshi muscular dystrophy (MMD), limb-girdle muscular dystrophy type R2, distal myopathy with anterior tibial onset, and isolated hyperCKemia. MMD
Bryant G, Moore SA, Nix JS, Rice G, Gokden M, Veerapandiyan A.   +5 more
europepmc   +3 more sources

Impaired myogenesis in limb girdle muscular dystrophy type 2B [PDF]

Scientific Reports
The skeletal muscle tissue has a remarkable capacity of growth and regeneration. Fusion of myoblasts and myotubes elongation are fundamental processes in muscle development.
Lucas Santos Souza, Renata Ishiba, Antonio Fernando Ribeiro-Junior, Isabela Aquino Zogbi, Dounia Bouragba, Anne Bigot, Vincent Mouly, Mariz Vainzof   +7 more
doaj   +2 more sources