Publications by authors named "G Escaramis"
Article Synopsis
- Huntington's disease (HD) requires molecular biomarkers to identify mutation carriers before noticeable symptoms appear, and small RNAs (sRNAs) show promise in this area.
- Researchers found that certain sRNAs in extracellular vesicles from plasma are downregulated in mutation carriers early on, linking these changes to cognitive performance prior to HD onset.
- Seven candidate sRNAs were identified as potential biomarkers, with miR-21-5p showing a decrease over time and correlation with cognitive decline, indicating their role in tracking disease progression in premanifest stages.
Article Synopsis
- * This study aimed to find genetic variations (SNPs and CNVs) affecting how children metabolize phthalates by analyzing data from 1,044 children in the HELIX cohort.
- * Significant genetic loci associated with phthalate metabolism were identified, along with genes related to detoxification processes and renal excretion, suggesting a strong genetic component influencing how these compounds are processed in the body.
Article Synopsis
- Mercury is widely used in industry and products, leading to significant environmental contamination and occupational exposure, with genetic factors potentially influencing how it is absorbed and metabolized in the body.
- A study analyzed blood mercury levels in pregnant women and children to identify genetic variations (SNPs) linked to mercury concentrations, finding an estimated heritability of 24% in pregnant women but not in children.
- The research identified 16 SNPs connected to mercury levels in pregnant women and 21 in children, but there was no significant overlap or conclusive results, suggesting differences in metabolism and the need for further validation of these findings.
Background: Attention-deficit/hyperactivity disorder (ADHD) is a prevalent and highly heritable neurodevelopmental disorder of major societal concern. Diagnosis can be challenging and there are large knowledge gaps regarding its etiology, though studies suggest an interplay of genetic and environmental factors involving epigenetic mechanisms. MicroRNAs (miRNAs) show promise as biomarkers of human pathology and novel therapies, and here we aimed to identify blood miRNAs associated with traits of ADHD as possible biomarker candidates and further explore their biological relevance.
View Article and Find Full Text PDFChorea-acanthocytosis (ChAc) is an inherited neurodegenerative movement disorder caused by VPS13A gene mutations leading to the absence of protein expression. The striatum is the most affected brain region in ChAc patients. However, the study of the VPS13A function in the brain has been poorly addressed.
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