Results 141 to 150 of about 747,509 (280)
Animal Research and One Health, EarlyView.The miniSdd7‐BE4max‐SpG system enables highly efficient multiplex C‐to‐T base editing of APN, CD163, and MSTN in porcine fibroblasts, providing a robust platform for future development of multiplex gene‐edited livestock. ABSTRACT Efficient multiplex genome editing is essential for improving complex traits in livestock that are governed by multiple ...
Shaoshuai Wang +4 more
wiley +1 more source
Comparative evaluation of TRIDs : a strategy to improve treatments
Journal of Translational MedicineBackground Translational readthrough represents a promising therapeutic strategy for genetic disorders caused by nonsense mutations. Although multiple translational readthrough-inducing drugs (TRIDs) have been reported, their relative efficacy remains ...
Fatima Hariss +8 more
doaj +1 more source
Novel Transcripts from the human DKC1 gene [PDF]
, 2010 Dyskeratosis congenita is a rare genetic disorder that causes a variety of symptoms, including mucocutaneous features, stem cell dysfunction, telomere shortening, ribosomal failure and increased susceptibility to cancer.
Angrisani, Alberto
core
Engineering Biology Beyond Single Genes: Advances and Challenges in Multiplex Genome Editing
Animal Research and One Health, EarlyView.Multiplex genome editing is transforming genome engineering from single‐gene perturbation to network‐level control, yet its broader application remains limited by challenges in gRNA array engineering, delivery technologies, and safety management. Emerging AI‐driven approaches are accelerating guide RNA design and CRISPR effector optimization for ...
Linli Wang, Yongbin Liu, Hongbing Han
wiley +1 more source
From Interferon Signature to the Clinical Landscape: Type I Interferonopathies
Arthritis &Rheumatology, EarlyView.Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz +13 more
wiley +1 more source
Evaluation of Novel Enhancer Compounds in Gentamicin-Mediated Readthrough of Nonsense Mutations in Rett Syndrome. [PDF]
Int J Mol Sci, 2023 Wong KM +5 more
europepmc +1 more source
In Vivo Cytoskeletal AMPA Receptor Transport Imaging in C. elegans
Cytoskeleton, EarlyView.ABSTRACT Long‐distance intracellular transport of ionotropic glutamate receptors (iGluRs) is essential for proper excitatory synaptic function underlying learning and memory. Many neuropsychiatric and neurodegenerative conditions have abnormal iGluR transport and trafficking, leading to an intense interest in the mechanisms and factors regulating these
Michaelis A. K., Hoerndli F. J.
wiley +1 more source
Cytoskeleton, EarlyView.ABSTRACT The cytoskeleton of striated muscle integrates force transmission, mechanotransduction, and sarcolemmal stability through coordinated networks of sarcomeres, costameres, and intermediate filaments. Together, these systems establish mechanical continuity between the contractile apparatus, the sarcolemma, and the extracellular matrix.
Houda Cohen +3 more
wiley +1 more source
Continuitiy of care with ataluren in Duchenne Muscular Dystrophy patients with nonsense mutations after loss of ambulation. Personal experience. [PDF]
Acta Myol, 2023 Spagnoli C +10 more
europepmc +1 more source
The role of Rho GTPases in facial morphogenesis
Developmental Dynamics, EarlyView.The role of small GTPases, RHOA, RAC1, and CDC42 and pathway mediators is reviewed in the context of embryonic facial development. Lip fusion requires cytoskeletal remodeling during morphogenesis of the facial processes and during lip fusion. Fnm, frontonasal mass; lnp, lateral nasal process; mnp, medial nasal process; mxp, maxillary process; np, nasal
Isra Ibrahim, Joy M. Richman
wiley +1 more source