Elucidating the genetic contributions to Parkinson's disease (PD) etiology across diverse ancestries is a critical priority for the development of targeted therapies in a global context. We conducted the largest sequencing characterization of potentially disease-causing, protein-altering and splicing mutations in 710 cases and 11,827 controls from genetically predicted African or African admixed ancestries. We explored copy number variants (CNVs) and runs of homozygosity (ROHs) in prioritized early onset and familial cases.
View Article and Find Full Text PDFThe detection of endogenous anabolic androgenic steroids (EAAS) is performed with the Steroidal Module of the Athlete Biological Passport (ABP). Glucocorticoids (GC) could be a confounding factor to the ABP Steroidal Module because they inhibit the hypothalamic-pituitary-adrenal axis, and ABP metabolites have partial adrenal origin. In previous studies, single-dose systemic GC administrations have been shown to reduce the urinary ratios A/T and 5αdiol/E.
View Article and Find Full Text PDFUnlabelled: Focal adhesions and their dynamic nature are essential for various physiological processes, including the formation of neurites, synaptic function and plasticity. Alterations in these processes have been associated with schizophrenia and bipolar disorder.
Objectives: This study aimed to explore the impact of pharmacological treatments used for bipolar disorder and schizophrenia on the expression of genes involved in the focal adhesion pathway, addressing a gap in understanding the interaction between medication effects and disease pathophysiology.
While animals readily adjust their behavior to adapt to relevant changes in the environment, the neural pathways enabling these changes remain largely unknown. Here, using multiphoton imaging, we investigate whether feedback from the piriform cortex to the olfactory bulb supports such behavioral flexibility. To this end, we engage head-fixed male mice in a multimodal rule-reversal task guided by olfactory and auditory cues.
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