Results 201 to 210 of about 1,142,692 (261)

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
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]

open access: hybrid, 1998
Liu Yang   +3 more
openalex   +1 more source

Alterations in gut microbiota and metabolites contribute to postoperative sleep disturbances

open access: yesAnimal Models and Experimental Medicine, EarlyView.
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

Supramolecular Recognition of a DNA Four‐Way Junction by an M2L4 Metallo‐Cage, Inspired by a Simulation‐Guided Design Approach

open access: yesAngewandte Chemie, EarlyView.
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

circNR3C2 promotes chondrogenic differentiation and cartilage repair of human adipose‐derived stem cells via the hsa‐miR‐647/SOX9 pathway

open access: yesAnimal Models and Experimental Medicine, EarlyView.
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

Establishment of a novel alloxan‐induced rabbit model exhibiting unique diabetic retinal neuropathy features assessed via ERG + VEP

open access: yesAnimal Models and Experimental Medicine, EarlyView.
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

Longitudinal Analysis of Neuroradiological Biomarkers for Fragile X‐Associated Tremor/Ataxia Syndrome and Implications for Clinical Trials

open access: yesAnnals of Neurology, EarlyView.
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

open access: yesAnnals of Neurology, EarlyView.
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

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