Publications by authors named "E Delage"
Background: About half of MCI patients experience semantic deficits, which may predict progression to Alzheimer's disease (AD). The neural basis of these deficits in MCI is not well understood. This study aimed to examine the relationship between semantic memory performance and cortical thickness in MCI patients.
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- Pathogenic variants in the RAD51C gene increase the risk for breast and ovarian cancer, and certain homozygous variants can lead to Fanconi anemia.
- Researchers used saturation genome editing to analyze a large number of genetic variants, identifying 3,094 as disruptive, with high accuracy in variant classification.
- The study found significant links between specific variants depleted via genome editing and cancer diagnoses, contributing to a better understanding of RAD51C's role in cancer susceptibility.
Recent epidemiological studies have shown that patients with right-sided breast cancer (RBC) treated with X-ray irradiation (IR) are more susceptible to developing cardiovascular diseases, such as arrhythmias, atrial fibrillation, and conduction disturbances after radiotherapy (RT). Our aim was to investigate the mechanisms induced by low to moderate doses of IR and to evaluate changes in the cardiac sympathetic nervous system (CSNS), atrial remodeling, and calcium homeostasis involved in cardiac rhythm. To mimic the RT of the RBC, female C57Bl/6J mice were exposed to X-ray doses ranging from 0.
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- * The study identifies RNU4-2, a non-coding RNA gene, as a significant contributor to syndromic NDD, revealing a specific 18-base pair region with low variation that includes variants found in 115 individuals with NDD.
- * RNU4-2 is highly expressed in the developing brain, and its variants disrupt splicing processes, indicating that non-coding genes play a crucial role in rare disorders, potentially aiding in the diagnosis of thousands with NDD worldwide.
Article Synopsis
- Researchers conducted comprehensive genome editing on the BAP1 gene, which is related to tumors and neurodevelopmental issues, to study rare genetic variants.
- They identified over 18,000 unique variants, with more than 6,000 showing abnormal functions, and linked their findings to health data from the UK Biobank and various cancer collections.
- The study revealed that certain harmful BAP1 variants are connected to higher levels of the IGF-1 protein, highlighting a potential target for therapy, and they developed a highly accurate tool for interpreting genetic variants.