Alan Hodgkinson

This study investigates the role of nuclear-encoded mitochondrial genes in ALS, finding enrichment in mitochondrial translation pathways and altered co-expression patterns, but no clear link between genetic risk and tissue expression changes.

The paper shows that diabetes status affects mitochondrial DNA copy number changes in AD brain regions, with non-diabetic AD cases showing reduced mtDNA-CN and diabetic cases showing increased mtDNA-CN.

The paper identifies nuclear genetic variants influencing mtDNA transcript abundance across tissues and links them to disease risk.

This study shows that genetic variation in rDNA affects epigenetic states and rRNA expression in mice and humans, with species-specific patterns observed.

This study identifies TREM2-dependent genes and pathways in Alzheimer's disease by analyzing RNA sequencing data from brain samples, revealing its impact on microglia, oligodendrocytes, and endothelial cells.

PAC improves allelic gene expression quantification by enhancing read alignment and multi-mapping read allocation, leading to more accurate and comprehensive ASE detection.

The paper examines mitochondrial-nuclear gene relationships in human brain tissue, finding cell-type specific variations and disruptions in Alzheimer’s disease.

The paper quantifies variation in mitochondrial RNA modification levels across multiple tissues and identifies nuclear genetic variants associated with these modifications and disease phenotypes.

The paper investigates how environmental factors, particularly air pollution, interact with genetic variation to influence gene expression and chronic disease traits in an urban population.

The paper examines genomic diversity in French Canadians to show that range expansion led to relaxed selection, increasing the frequency of deleterious mutations in colonizing populations.

The paper quantifies changes in mitochondrial RNA processing in cancers using genomic data from 1226 samples, finding altered methylation rates and associations with survival outcomes.

The paper shows that recombination rate influences the distribution of deleterious variants across the human genome, with low recombination regions enriched for disease-associated mutations.