Publications by authors named "D F Groth"
Article Synopsis
- Rigid spine syndrome is a rare condition in children marked by progressive scoliosis, neck and spine stiffness, muscle weakness, and breathing issues, primarily linked to genetic variations in the SELENON gene.
- Recent research identified additional genetic variants in the HMGCS1 gene in five patients, suggesting it plays a role in this syndrome, despite it not being previously linked to any diseases.
- Functional studies of the HMGCS1 variants showed altered protein stability and activity, and experiments in zebrafish indicated that these mutations severely impact development, but can be rescued by introducing healthy HMGCS1 mRNA.
γ-secretase processing of amyloid precursor protein (APP) has long been of interest in the pathological progression of Alzheimer's disease (AD) due to its role in the generation of amyloid-β. The catalytic component of the enzyme is the presenilins of which there are two homologues, Presenilin-1 (PS1) and Presenilin-2 (PS2). The field has focussed on the PS1 form of this enzyme, as it is typically considered the more active at APP processing.
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- Celiac disease (CeD) is an autoimmune disorder triggered by gluten, leading to small intestine damage and an increased risk associated with infections like Influenza A.
- This study analyzed T-cell receptors (TCRs) from 56 CeD patients and 22 controls, focusing on how gluten-specific CD4 T-cells and gluten-triggered CD8 T-cells contribute to the immune response in CeD.
- Results showed that CD8 T-cell TCRs are significantly more prevalent in the intestinal tissues of CeD patients, particularly in severe cases, suggesting a potential link between these TCRs and the recognition of other antigens, including viral and microbial sources.
Animal societies are structured of dominance hierarchy (DH). DH can be viewed as networks and analyzed by graph theory. We study the impact of state-dependent feedback (winner-loser effect) on the emergence of local dominance structures after pairwise contests between initially equal-ranking members (equal resource-holding-power, RHP) of small and large social groups.
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