Publications by authors named "S El Kirat Chatel"
Article Synopsis
- The study investigates the demographic history of France using genotype datasets from individuals in Northern France, revealing significant population structure and differentiation in regions like Brittany and the Loire basin.
- The research highlights a connection between the ancestry of local populations and genetic variations, particularly indicating a distinction in shared ancestry related to Neolithic and steppe populations.
- Findings suggest the necessity of studying local demographics to better comprehend the distribution of genetic variants and their role in the prevalence of diseases among populations in Brittany and neighboring areas.
Cancer genetics has to date focused on epithelial malignancies, identifying multiple histotype-specific pathways underlying cancer susceptibility. Sarcomas are rare malignancies predominantly derived from embryonic mesoderm. To identify pathways specific to mesenchymal cancers, we performed whole-genome germline sequencing on 1644 sporadic cases and 3205 matched healthy elderly controls.
View Article and Find Full Text PDFArticle Synopsis
- Brugada syndrome (BrS) is a serious heart condition linked to sudden death in young adults, with few known genetic factors beyond the SCN5A gene.
- A large study involving 2,820 BrS cases and 10,001 controls revealed 21 genetic signals across 12 locations, suggesting a strong genetic component to the disorder.
- Key findings highlight the importance of transcription regulation in BrS development and introduce microtubule-related mechanisms that affect the expression of a key cardiac protein, shedding light on the disorder's genetic and molecular basis.
Background: Management of small (<7 mm) unruptured intracranial aneurysms (UIA) remains controversial. Retrospective studies have suggested that post gadolinium arterial wall enhancement (AWE) of UIA on magnetic resonance imaging (MRI) may reflect aneurysm wall instability, and hence may highlight a higher risk of UIA growth. This trial aims at exploring wall imaging findings of UIAs with consecutive follow-up to substantiate these assumptions.
View Article and Find Full Text PDF