Results 1 to 10 of about 2,242 (111)

Dysferlin promotes inflammatory macrophage responses and modulates Ca 2+ -dependent STAT1 signaling [PDF]

Life Science Alliance
This study links macrophage dysferlin to Ca²⁺-dependent STAT1-associated inflammatory responses and impaired myogenic differentiation in cellular models. Macrophage differentiation and activation shape tissue homeostasis and regeneration. Dysferlin (DYSF)
Kana Tominaga, Naoomi Tominaga
doaj   +2 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

Peptide-phosphorodiamidate morpholino oligomer therapy for dysferlinopathy induces pseudoexon skipping and restoration of functional protein [PDF]

JCI Insight
The dysferlinopathies are a spectrum of autosomal recessive muscle diseases caused by mutations in the dysferlin gene (DYSF). Clinical manifestations vary from asymptomatic hyperCKemia to severe muscle pathology and loss of muscle function.
James E. Gooding, Gyeongsu Park, Atish Wagh, Jonathan K. Watts, Janice A. Dominov, Robert H. Brown Jr   +5 more
doaj   +2 more sources

A female case report of LGMD2B with compound heterozygous mutations of the DYSF gene and asymptomatic mutation of the X-linked DMD gene

Frontiers in Neurology, 2023
We report the case of a 31-year-old Chinese woman with a chief complaint of weakness in the lower limbs, which was diagnosed as limb-girdle muscular dystrophy 2B (LGMD2B) with compound heterozygous mutations of the DYSF gene.
Xiaojie Cao, Li Zeng, Zhijie Lu, Jin Fan, Song Tan, Mingjie Zhang, Zegang Yin   +6 more
exaly   +3 more sources

Uncovering compound heterozygous DYSF variants in a Chinese family affected by limb-girdle muscular dystrophy type 2B [PDF]

Frontiers in Genetics
This case concerns a Chinese female patient who was referred to our clinic having complained of weakness in her lower limbs. Following a series of diagnostic procedures, including electrophysiology, muscle biopsy and genetic analysis, the patient was ...
Jinlan Li, Jinlan Li, Jie Zhou, Jie Zhou, Chunbo Ji, Chunbo Ji, Siqing Ma, Siqing Ma, Jianying Zhu, Jianying Zhu, Tiejun Yang, Tiejun Yang, Danyang Dong, Danyang Dong, Yang Ping   +14 more
doaj   +2 more sources

DYSF gene variant spectrum in Arab populations across eight countries: A systematic review [PDF]

Biomolecules & Biomedicine
Dysferlinopathies are a subset of autosomal recessive muscular dystrophies resulting from pathogenic variants in the dysferlin (DYSF) gene. The prevalence of dysferlinopathies remains inadequately defined.
Fatimazahra Smaili, Khawla Zerrouki, Fatima Ezzahra Aouni, Mariam Tajir   +3 more
doaj   +2 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

Genetic screening of an endemic mutation in the DYSF gene in an isolated, mountainous population in the Republic of Dagestan

Molecular Genetics & Genomic Medicine, 2023
Background Dysferlinopathy has a high prevalence in relatively isolated ethnic groups where consanguineous marriages are characteristic and/or the founder effect exists.
Nikita Khromov-Borisov, Zoya Umakhanova, Ivan Yakovlev   +2 more
exaly   +2 more sources

Limb-girdle muscular dystrophy type 2B (LGMD2B) caused by pathogenic splice and missense variants of DYSF gene among Iranians with muscular dystrophy

Advanced Biomedical Research, 2023
Background:The phenotypic range of limb-girdle muscular dystrophies (LGMDs) varies significantly because of genetic heterogeneity ranging from very mild to severe forms.
Fatemeh Arab, Najmeh Ahangari, Hadis Malek, Mohammad Doosti, Paria Najarzadeh Torbati, Ehsan Ghayoor Karimiani   +5 more
doaj   +1 more source

An in‐frame pseudoexon activation caused by a novel deep‐intronic variant in the dysferlin gene

Annals of Clinical and Translational Neurology, 2023
The precise detection and interpretation of pathogenic DYSF variants are sometimes challenging, largely due to rare deep‐intronic splice‐altering variants. Here, we report on the genetic diagnosis of a male patient with dysferlinopathy.
Chengyue Sun, Zhiying Xie, Lu Cong, Yan Xu, Zunjing Liu   +4 more
doaj   +1 more source