Results 201 to 210 of about 1,142,692 (261)
Substrate Specificities of SR Proteins in Constitutive Splicing Are Determined by Their RNA Recognition Motifs and Composite Pre-mRNA Exonic Elements [PDF]
Akila Mayeda+4 more
openalex +1 more source
The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue+16 more
wiley +1 more source
Oncoprotein TLS Interacts with Serine-Arginine Proteins Involved in RNA Splicing [PDF]
Liu Yang+3 more
openalex +1 more source
Alterations in gut microbiota and metabolites contribute to postoperative sleep disturbances
In this study, we classified postoperative patients into poor sleepers (PS) and good sleepers (GS) based on the bispectral index (BIS), and transplanted their fecal microbiota to pseudo‐germ‐free rats to analyze the sleep changes in rats and the potential mechanism.
Hui Zhong+7 more
wiley +1 more source
DNA Holliday junctions, or four‐way junctions (4WJs) are an attractive therapeutic target due to their prevalence in DNA replication and repair, and viral disease. Combining experimental and computational methods, we show that quadruple‐stranded dinuclear platinum metallo‐cages are an excellent size and shape match for the cavity of the 4WJ open ...
Samuel J. Dettmer+6 more
wiley +2 more sources
An RNA conformational change between the two chemical steps of group II self-splicing. [PDF]
Guillaume Chanfreau, Alain Jacquier
openalex +1 more source
The hypothesis diagram illustrates the function and mechanism of circNR3C2: circNR3C2 overexpression can up‐regulate COL2, Aggrecan and SOX9 expression, and regulate chondrogenic differentiation of hADSCs by targeting hsa‐miR‐647. Abstract Background Human adipose‐derived stem cells (hADSCs) are seed cells with application prospects in cartilage repair.
Dabiao Hou+5 more
wiley +1 more source
Study workflow. Neuroretinal changes were observed in alloxan‐induced diabetic rabbits, while the retinal vasculature remained unaffected, indicating the successful establishment of a diabetic neuroretinal model. Abstract Background Diabetic retinal neuropathy (DRN) leads to significant visual impairment; however, no existing animal model fully ...
Xinlu Li+9 more
wiley +1 more source
Objective The objective of this study was to show the capacity of structural brain magnetic resonance imaging (MRI) measures to serve as monitoring biomarkers for Fragile X‐Associated Tremor/Ataxia Syndrome (FXTAS). Methods From 2 longitudinal studies of male FMR1 premutation carriers, 2 brain MRI scans were selected from each participant, collected ...
David Hessl+6 more
wiley +1 more source
Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies
Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel+10 more
wiley +1 more source