Publications by authors named "J G J van Rooij"
Meta-Analysis of Transcriptomic Studies of Blood and Six Brain Regions Identifies a Consensus of 15 Cross-Tissue Mechanisms in Alzheimer's Disease and Suggests an Origin of Cross-Study Heterogeneity.
Am J Med Genet B Neuropsychiatr Genet
December 2024
The comprehensive genome-wide nature of transcriptome studies in Alzheimer's disease (AD) should provide a reliable description of disease molecular states. However, the genes and molecular systems nominated by transcriptomic studies do not always overlap. Even when results do align, it is not clear if those observations represent true consensus across many studies.
View Article and Find Full Text PDFBackground: Despite indications of a close interaction between the trigeminal (CN V) and facial nerve (CN VII) within the buccinator muscle, a combination of anatomical dissection and histological analysis has not been reported.
Methods: Five formalin-fixed and fresh-frozen hemifaces were dissected to reveal the buccal fat pad, the buccinator muscle, and anastomotic connections between CN V and CN VII within it. Samples were taken for histological processing and immunostaining.
Article Synopsis
- * Researchers studied a Caucasian family with a history of AFFs and identified a rare genetic variant in the LOXL4 gene that may be associated with increased susceptibility to these fractures.
- * The LOXL4 gene is involved in collagen production, and the variant may disrupt collagen metabolism, leading to microdamage in bones and poor healing, as indicated by tests on cells from affected individuals.
Article Synopsis
- - Our study analyzed how genetic variations influence the effectiveness of metformin, a diabetes medication, in a group of 14,926 people over nearly three decades, focusing on 1,285 users of European descent.
- - We found that while most individual genetic markers didn't show strong links to drug response, one specific variant (rs622342) was associated with improved glycemic control in patients only taking metformin.
- - Although the combined effects of multiple genetic variants (measured by Polygenic Risk Score) had a weak correlation with changes in medication dosage, the limited impact suggests more research is needed, especially in different populations, to better understand genetic factors in diabetes treatment.
Article Synopsis
- Several small genetic studies on atypical femur fractures (AFF) have been conducted, but results lacked replication; this study uses whole exome sequencing to analyze genetic factors in a larger sample of 139 European AFF cases and 196 controls.
- The analysis identified suggestive associations with genes like PLOD2, XRN2, and SORD, although not statistically significant; replication studies showed varying consistency across populations.
- Findings suggest that genetic factors influencing AFFs differ among individuals and highlight the need for larger studies to further understand the genetic basis of AFF.*