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A Guinea Pig Model of Pediatric Metabolic Dysfunction-Associated Steatohepatitis: Poor Vitamin C Status May Advance Disease.
Nutrients
January 2025
Section of Preclinical Disease Biology, Department of Veterinary and Animal Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, 1870 Frederiksberg, Denmark.
Children and teenagers display a distinct metabolic dysfunction-associated steatohepatitis (MASH) phenotype, yet studies of childhood MASH are scarce and validated animal models lacking, limiting the development of treatments. Poor vitamin C (VitC) status may affect MASH progression and often co-occurs with high-fat diets and related metabolic imbalances. As a regulator of DNA methylation, poor VitC status may further contribute to MASH by regulating gene expression This study investigated guinea pigs-a species that, like humans, depends on vitC in the diet-as a model of pediatric MASH, examining the effects of poor VitC status on MASH hallmarks and global DNA methylation levels.
View Article and Find Full Text PDFTargeting Metabolic and Epigenetic Vulnerabilities in Glioblastoma with SN-38 and Rabusertib Combination Therapy.
Int J Mol Sci
January 2025
Department of Nutritional Sciences, College of Natural Sciences, The University of Texas at Austin, Austin, TX 78712, USA.
Glioblastoma (GBM), the most prevalent primary malignant brain tumor, remains challenging to treat due to extensive inter- and intra-tumor heterogeneity. This variability demands combination treatments to improve therapeutic outcomes. A significant obstacle in treating GBM is the expression of O-methylguanine-DNA methyltransferase, a DNA repair enzyme that reduces the efficacy of the standard alkylating agent, temozolomide, in about 50% of patients.
View Article and Find Full Text PDFDegenerative Disease Diagnosis and Analysis Based on Tissue Specificity of DNA Methylation.
Int J Mol Sci
January 2025
School of Computer Science and Technology, Changchun University, Changchun 130022, China.
The tissue specificity of DNA methylation refers to the significant differences in DNA methylation patterns in different tissues. This specificity regulates gene expression, thereby supporting the specific functions of each tissue and the maintenance of normal physiological activities. Abnormal tissue-specific patterns of DNA methylation are closely related to age-related diseases.
View Article and Find Full Text PDFMicroRNAs Expression Profile in MN1-Altered Astroblastoma.
Biomedicines
January 2025
Department of Radiological, Oncological and Anatomo-Pathological Sciences, University Sapienza of Rome, 00161 Rome, Italy.
Background/objectives: Astroblastoma is a rare glial neoplasm more frequent in young female patients, with unclear clinical behaviors and outcomes. The diagnostic molecular alteration is a rearrangement of the Meningioma 1 () gene. MicroRNAs (miRNAs) are important gene expression regulators with strong implications in biological processes.
View Article and Find Full Text PDFDisco-Interacting Protein 2 Homolog B CGG Repeat Expansion in Siblings with Neurodevelopmental Disability and Progressive Movement Disorder.
Mov Disord
January 2025
British Columbia Children's Hospital Research Institute, Vancouver, British Columbia, Canada.
Background: Trinucleotide repeat expansions are an emerging class of genetic variants associated with various movement disorders. Unbiased genome-wide analyses can reveal novel genotype-phenotype associations and provide a diagnosis for patients and families.
Objective: The aim was to identify the genetic cause of a severe progressive movement disorder phenotype in 2 affected brothers.
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