Publications by authors named "L A Franke"

Mutations in leucine-rich repeat kinase 2 () are the most common cause of familial and sporadic Parkinson's disease (PD). While the clinical features of -PD patients resemble those of typical PD, there are significant differences in the pathological findings. The pathological hallmark of definite PD is the presence of α-synuclein (αSYN)-positive Lewy-related pathology; however, approximately half of -PD cases do not have Lewy-related pathology.

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Microbiome influences multiple human systems, but its effects on gene methylation is unknown. We investigated the relations between gene methylation in blood and the abundance of common gut bacteria profiled by 16s rRNA gene sequencing in two population-based Dutch cohorts: LifeLines-Deep (LLD, n = 616, discovery) and the Netherlands Twin Register (NTR, n = 296, replication). In LLD, we also explored microbial pathways using data generated by shotgun metagenomic sequencing (n = 683).

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  • Genetic variants found in GWAS are mostly non-coding and have subtle effects on genes, while Mendelian disease variants are coding and directly influence diseases.
  • The study connects common and rare genetic diseases by analyzing how common variants affect gene co-expression across various tissues, using a tool called Downstreamer on 88 GWAS traits.
  • Key findings show that important downstream genes related to common traits, like height, are often linked to Mendelian disease genes, with many being located outside GWAS loci, indicating complex regulatory interactions.
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  • Posttraumatic stress disorder (PTSD) and unexplained pain often happen together, but their relationship during trauma isn't well understood.
  • This study used fMRI to examine how neural activations in women's brains respond to painful simulated trauma and how these reactions predict the occurrence of intrusive thoughts about the experience.
  • Results showed that areas of the brain linked to threat and pain—like the anterior insula and dorsal anterior cingulate cortex—predicted more frequent audiovisual intrusions, especially in those with a history of significant life stress.
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  • Hydathodes are small structures on plant leaves that help release excess water and nutrients, a process known as guttation.
  • This study found that hydathodes in Arabidopsis express a high number of genes related to important functions like auxin metabolism, stress response, and nutrient transport.
  • The research revealed that hydathodes not only help in nutrient retention by capturing essential elements like nitrate and phosphate but also show distinct physiological roles through extensive gene and metabolite analysis.
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