Publications by authors named "A Kottgen"
RASSF1A is frequently biallelically inactivated in clear cell renal cell carcinoma (ccRCC) due to loss of chromosome 3p and promoter hypermethylation. Here we investigated the cellular and molecular consequences of single and combined deletion of the Rassf1a and Vhl tumor suppressor genes to model the common ccRCC genotype of combined loss of function of RASSF1A and VHL. In mouse embryonic fibroblasts and in primary kidney epithelial cells, double deletion of Rassf1a and Vhl caused chromosomal segregation defects and increased formation of micronuclei, demonstrating that pVHL and RASSF1A function to maintain genomic integrity.
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- Mitochondria play complex roles in two different cell death pathways: apoptosis and pyroptosis, particularly regarding NLRP3 inflammasome activation, but their exact mechanisms are not well understood.
- The study found that activating NLRP3 while inhibiting apoptosis occurs when cells are under stress from various stimuli like nigericin and viruses, as these activators affect mitochondrial function rather than just triggering inflammasome activation.
- NLRP3 activation needs a combination of signals—one from disrupted mitochondrial processes and another from specific NLRP3 activators—suggesting that both oxidative phosphorylation inhibition and apoptosis suppression influence cell fate.
Background: Lipoprotein(a) (Lp(a)) is a causal, genetically determined risk factor for cardiovascular disease (CVD) in the general population. Patients with chronic kidney disease (CKD) have an increased CVD risk and elevated Lp(a) concentrations. Only a few studies on Lp(a) were performed in persons with mild-to-moderate CKD; none of them used genetic variants to explore potential causal associations.
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- IgA vasculitis (IgAV) is a pediatric disease characterized by skin and systemic symptoms, and researchers conducted comprehensive studies involving genome, transcriptome, and proteome analyses on a large cohort of IgAV patients and controls to better understand the disease mechanisms.* -
- Significant associations were found with specific genetic risk factors, including two novel non-HLA loci linked to IgA receptor functioning, which may contribute to disease development through altered immune responses.* -
- Systems biology approaches helped identify key regulatory networks and master regulators in myeloid cells, along with 21 genetic loci that overlap with IgA nephropathy, suggesting shared pathways in these related conditions.*
Article Synopsis
- - The study explores the role of epigenetic mechanisms, specifically DNA methylation, in predicting treatment response to antidepressants for patients with major depressive disorder (MDD) based on a large sample size of 230 patients.
- - Researchers used DNA methylation analysis and found suggestive evidence linking altered methylation patterns at several specific sites to how well patients responded to naturalistic antidepressant treatment and SSRIs/SNRIs.
- - The findings indicate that understanding DNA methylation may help improve personalized treatment strategies for MDD in the future, although further research is needed for validation.