Results 1 to 10 of about 2,516,635 (116)

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

International Journal of Molecular Sciences, 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).
Francesca Cavalcanti, Patrizia Spadafora, Luigi Citrigno   +2 more
exaly   +3 more sources

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

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   +3 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]

International Journal of Molecular Sciences, 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.
Ekaterina Grafskaia, Sergey Bardakov
exaly   +3 more sources

Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy. [PDF]

Proteomics
ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Dowling P, Bouragba D, Negroni E, Trollet C, Zweyer M, Swandulla D, Ohlendieck K.   +6 more
europepmc   +2 more sources

A Novel Dysferlin-Binding Kinase CK2α Promotes Plasma Membrane Repair in Dysferlinopathy. [PDF]

FASEB J
When the cell membrane is injured, extracellular calcium enters the cell, triggering the accumulation of dysferlin at the lesion site. In the presence of dysferlin, CK2 is efficiently recruited to the damaged membrane and maintains its kinase activity through interaction with dysferlin.
Nakamura N, Suzuki N, Kanno SI, Yamanaka R, Ono H, Izumi R, Muliang R, Borgo C, Ohno A, Harada R, Saito S, Funayama Y, Ikeda K, Mitsuzawa S, Watanabe Y, Shijo T, Akiyama T, Takahashi T, Kanzaki M, Osana S, Warita H, Aoki Y, Ebihara S, Salvi M, Nagatomi R, Yasui A, Miyake K, Aoki M.   +27 more
europepmc   +2 more sources

Single-cell sequencing reveals potential novel insights into appendage-patterning and joint-development in a spider. [PDF]

Dev Dyn
Abstract Background Jointed appendages represent one of the key innovations of arthropods, and thus understanding the development and evolution of these structures is important for the understanding of the evolutionary success of Arthropoda. In this paper, we analyze a cell cluster that was identified in a previous single‐cell sequencing (SCS ...
Medina-Jiménez BI, Budd GE, Janssen R.
europepmc   +2 more sources

RUNX2 Activation in Fibro/Adipogenic Progenitors Promotes Muscle Fibrosis in Muscular Dystrophy. [PDF]

Adv Sci (Weinh)
This study revealed a novel role of the chemokine‐TGF‐β1‐RUNX2 axis in determining the fate of FAP differentiation and modulating muscle fibrosis in patients and mice with muscular dystrophies. ABSTRACT Clinical evidence indicates concurrent muscle inflammation and fibrosis in muscular dystrophies (MDs); however, the molecular mechanisms underlying ...
Wu P, Zhang Z, Zheng K, Zhu Z, Zhu Y, Kiram A, Zhao L, Chen H, Xu Z, Li X, Sun B, Li Z, Xu D.   +12 more
europepmc   +2 more sources

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

International Journal of Genomics
Farzaneh Jalalypour, Mina Kazemzadeh, Asiyeh Jebelli   +2 more
exaly   +2 more sources

Neurologic Manifestations of Long COVID Affect Adult Females More Severely Than Males

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize differences in neurologic manifestations of postacute sequelae of SARS‐CoV‐2 infection (Neuro‐PASC) between females and males. Methods Cross‐sectional study of the first consecutive 261 posthospitalization Neuro‐PASC (PNP) and 2068 nonhospitalized Neuro‐PASC (NNP) patients evaluated at the Neuro‐COVID clinic between ...
Hannah Kopinsky, Melissa Lopez, Janet Miller, Millenia Jimenez, Eric M. Liotta, Igor J. Koralnik   +5 more
wiley   +1 more source

Asymmetric Evolution of Antennal Cell Types Underlies a Derived Ammonia‐Sensing Logic for Ecological Adaptation in Bactrocera dorsalis

Advanced Science, EarlyView.
Comparative antennal single‐nucleus transcriptomics reveals cell‐type‐dependent transcriptomic divergence in Bactrocera dorsalis, with similar structural cells but divergent sensory neurons. This neuronal diversification is associated with a distinct ammonia‐sensing pathway, linking female attraction to bird‐dropping‐associated cues with nutritional ...
Wei Liu, Shuai Zhang, Jie Zhang, Zhen Tian, Yuanbo Xue, Ling Yang, Jun Xu, Guirong Wang   +7 more
wiley   +1 more source