Publications by authors named "Carlos de Celis"

Article Synopsis
  • The study explores the relationship between changes in subcortical brain structure volumes and various neurodegenerative and psychiatric disorders, aiming to link these changes with specific proteins, metabolites, or microbes.
  • Using a two-sample Mendelian randomization approach, researchers analyzed genetic data from a large pool of proteins, metabolites, and microbial associations to identify potential causal links to the volumes of specific brain structures.
  • Significant associations were found between specific proteins and metabolites with brain volumes, suggesting potential treatment targets for related disorders, although no links between microbial genera and brain structure volumes were identified.
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Article Synopsis
  • Research shows that changes in subcortical brain structure volumes are linked to neurodegenerative and psychiatric disorders, and genome-wide association studies (GWAS) have identified variants related to these structures.
  • The study used a two-sample Mendelian randomization approach to analyze associations between 2,994 plasma proteins, 237 metabolites, and 103 microbial genera with seven subcortical brain structures, finding significant links for eleven proteins and six metabolites.
  • Key findings include a causal association of granzyme A with amygdala volume and the metabolite urate with thalamic volume, suggesting potential treatment targets for disorders involving subcortical brain volume changes.
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Olfactory sensory neurons (OSNs) form embryonically and mature perinatally, innervating glomeruli and extending dendrites with multiple cilia. This process and its timing are crucial for odor detection and perception and continues throughout life. In the olfactory epithelium (OE), differentiated OSNs proceed from an immature (iOSN) to a mature (mOSN) state through well-defined sequential morphological and molecular transitions, but the precise mechanisms controlling OSN maturation remain largely unknown.

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Bardet-Biedl syndrome (BBS) is a hereditary genetic disorder that results in numerous clinical manifestations including olfactory dysfunction. Of at least 21 BBS-related genes that can carry multiple mutations, a pathogenic mutation, BBS1M390R, is the single most common mutation of clinically diagnosed BBS outcomes. While the deletion of BBS-related genes in mice can cause variable penetrance in different organ systems, the impact of the Bbs1M390R mutation in the olfactory system remains unclear.

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