Nikolaos I. Panousis
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View article: Splicing QTL mapping in stimulated macrophages associates low-usage splice junctions with immune-mediated disease risk
Splicing QTL mapping in stimulated macrophages associates low-usage splice junctions with immune-mediated disease risk Open
View article: Gene expression QTL mapping in stimulated iPSC-derived macrophages provides insights into common complex diseases
Gene expression QTL mapping in stimulated iPSC-derived macrophages provides insights into common complex diseases Open
Many disease-associated variants are thought to be regulatory but are not present in existing catalogues of expression quantitative trait loci (eQTL). We hypothesise that these variants may regulate expression in specific biological contex…
View article: Cell-type-resolved genetic regulatory variation shapes inflammatory bowel disease risk
Cell-type-resolved genetic regulatory variation shapes inflammatory bowel disease risk Open
Most genetic variants associated with complex diseases lie in non-coding regions, complicating efforts to identify effector genes and relevant cell types. Here, we map cis-eQTLs across 2.2 million single cells from blood and intestinal bio…
View article: Gene expression QTL mapping in stimulated iPSC-derived macrophages provides insights into common complex diseases.
Gene expression QTL mapping in stimulated iPSC-derived macrophages provides insights into common complex diseases. Open
Many disease-associated variants are thought to be regulatory but are not present in existing catalogues of expression quantitative trait loci (eQTL). We hypothesise that these variants may regulate expression in specific biological contex…
View article: An Alzheimer’s disease-associated common regulatory variant in a PTK2B intron alters microglial function
An Alzheimer’s disease-associated common regulatory variant in a PTK2B intron alters microglial function Open
Summary Genome-wide association studies (GWAS) are revealing an ever-growing number of genetic associations with disease, but identifying and functionally validating the causal variants underlying these associations is very challenging and…
View article: Identifying novel regulatory effects for clinically relevant genes through the study of the Greek population
Identifying novel regulatory effects for clinically relevant genes through the study of the Greek population Open
Background Expression quantitative trait loci (eQTL) studies provide insights into regulatory mechanisms underlying disease risk. Expanding studies of gene regulation to underexplored populations and to medically relevant tissues offers po…
View article: Low-usage splice junctions underpin immune-mediated disease risk
Low-usage splice junctions underpin immune-mediated disease risk Open
The majority of immune-mediated disease (IMD) risk loci are located in non-coding regions of the genome, making it difficult to decipher their functional effects. To assess the extent to which alternative splicing contributes to IMD risk, …
View article: Mapping interindividual dynamics of innate immune response at single-cell resolution
Mapping interindividual dynamics of innate immune response at single-cell resolution Open
Common genetic variants across individuals modulate the cellular response to pathogens and are implicated in diverse immune pathologies, yet how they dynamically alter the response upon infection is not well understood. Here, we triggered …
View article: Gene expression QTL mapping in stimulated iPSC-derived macrophages provides insights into common complex diseases
Gene expression QTL mapping in stimulated iPSC-derived macrophages provides insights into common complex diseases Open
Many disease-associated variants are thought to be regulatory but are not present in existing catalogues of expression quantitative trait loci (eQTL). We hypothesise that these variants may regulate expression in specific biological contex…
View article: Gene expression QTL mapping in stimulated iPSC-derived macrophages provides insights into common complex diseases.
Gene expression QTL mapping in stimulated iPSC-derived macrophages provides insights into common complex diseases. Open
Many disease-associated variants are thought to be regulatory but are not present in existing catalogues of expression quantitative trait loci (eQTL). We hypothesise that these variants may regulate expression in specific biological contex…
View article: Identifying novel regulatory effects for clinically relevant genes through the study of the Greek population
Identifying novel regulatory effects for clinically relevant genes through the study of the Greek population Open
Background Expression quantitative trait loci (eQTL) studies provide insights into regulatory mechanisms underlying disease risk. Expanding studies of gene regulation to underexplored populations and to medically relevant tissues offers po…
View article: Multiallelic Copy Number Variation in ORM1 is Associated with Plasma Cell-Free DNA Levels as an Intermediate Phenotype for Venous Thromboembolism
Multiallelic Copy Number Variation in ORM1 is Associated with Plasma Cell-Free DNA Levels as an Intermediate Phenotype for Venous Thromboembolism Open
Venous thromboembolism (VTE) is a common disease with high heritability. However, only a small portion of the genetic variance of VTE can be explained by known genetic risk factors. Neutrophil extracellular traps (NETs) have been associate…
View article: Additional file 6 of Identifying novel regulatory effects for clinically relevant genes through the study of the Greek population
Additional file 6 of Identifying novel regulatory effects for clinically relevant genes through the study of the Greek population Open
Additional file 6. Main scripts for eQTL mapping using fastQTL.
View article: Additional file 2 of Identifying novel regulatory effects for clinically relevant genes through the study of the Greek population
Additional file 2 of Identifying novel regulatory effects for clinically relevant genes through the study of the Greek population Open
Additional file 2: Supplementary Table S1. eQTLs in GM adipose tissues. Supplementary Table S3. GenotypexObesity significant (p<0.05) interactions in GM. Supplementary Table S4. GenotypexSex significant (p<0.05) interactions in GM. Supplme…
View article: Additional file 3 of Identifying novel regulatory effects for clinically relevant genes through the study of the Greek population
Additional file 3 of Identifying novel regulatory effects for clinically relevant genes through the study of the Greek population Open
Additional file 3: Supplementary Table S17. DEGs by tissue in GM, GTEx-am and GTEx-sm. Supplementary Table S18. S vs V DEGs with discordant direction of gene expression bewteen GM and GTEx-am. Supplementary Table S19. DEGs by obesity statu…
View article: Integrated GWAS and Gene Expression Suggest ORM1 as a Potential Regulator of Plasma Levels of Cell-Free DNA and Thrombosis Risk
Integrated GWAS and Gene Expression Suggest ORM1 as a Potential Regulator of Plasma Levels of Cell-Free DNA and Thrombosis Risk Open
Plasma cell-free DNA (cfDNA) is a surrogate marker of neutrophil extracellular traps (NETs) that contribute to immunothrombosis. There is growing interest about the mechanisms underlying NET formation and elevated cfDNA, but little is know…
View article: Mapping interindividual dynamics of innate immune response at single-cell resolution
Mapping interindividual dynamics of innate immune response at single-cell resolution Open
Common genetic variants modulate the cellular response to viruses and are implicated in a range of immune pathologies, including infectious and autoimmune diseases. The transcriptional antiviral response is known to vary between infected c…
View article: A map of transcriptional heterogeneity and regulatory variation in human microglia
A map of transcriptional heterogeneity and regulatory variation in human microglia Open
View article: Extensive fragmentation and re-organization of transcription in Systemic Lupus Erythematosus
Extensive fragmentation and re-organization of transcription in Systemic Lupus Erythematosus Open
View article: Genetic variant effects on gene expression in human pancreatic islets and their implications for T2D
Genetic variant effects on gene expression in human pancreatic islets and their implications for T2D Open
View article: THU0014 COMPARATIVE TRANSCRIPTOME ANALYSES ACROSS TISSUES AND SPECIES IDENTIFY TARGETABLE GENES FOR HUMAN SYSTEMIC LUPUS ERYTHEMATOSUS (SLE) AND LUPUS NEPHRITIS (LN)
THU0014 COMPARATIVE TRANSCRIPTOME ANALYSES ACROSS TISSUES AND SPECIES IDENTIFY TARGETABLE GENES FOR HUMAN SYSTEMIC LUPUS ERYTHEMATOSUS (SLE) AND LUPUS NEPHRITIS (LN) Open
View article: Extensive fragmentation and re-organization of gene co-expression patterns underlie the progression of Systemic Lupus Erythematosus
Extensive fragmentation and re-organization of gene co-expression patterns underlie the progression of Systemic Lupus Erythematosus Open
Systemic Lupus Erythematosus (SLE) is the prototype of autoimmune diseases, characterized by extensive gene expression perturbations in peripheral blood immune cells. Circumstantial evidence suggests that these perturbations may be due to …
View article: A map of transcriptional heterogeneity and regulatory variation in human microglia
A map of transcriptional heterogeneity and regulatory variation in human microglia Open
Microglia, the tissue resident macrophages of the CNS, are implicated in a broad range of neurological pathologies, from acute brain injury to dementia. Here, we profiled gene expression variation in primary human microglia isolated from 1…
View article: Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance
Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance Open
Aneuploidy is a major source of gene dosage imbalance due to copy number alterations (CNA), and viable human trisomies are model disorders of altered gene expression. We study gene and allele-specific expression (ASE) of 9668 single-cell f…
View article: Combined genetic and transcriptome analysis of patients with SLE: distinct, targetable signatures for susceptibility and severity
Combined genetic and transcriptome analysis of patients with SLE: distinct, targetable signatures for susceptibility and severity Open
View article: OP0277 RNA SEQUENCING AND MACHINE LEARNING TECHNIQUES PREDICT MAJOR ORGAN INVOLVEMENT IN PATIENTS WITH SYSTEMIC LUPUS ERYTHEMATOSUS
OP0277 RNA SEQUENCING AND MACHINE LEARNING TECHNIQUES PREDICT MAJOR ORGAN INVOLVEMENT IN PATIENTS WITH SYSTEMIC LUPUS ERYTHEMATOSUS Open
View article: Influence of genetic variants on gene expression in human pancreatic islets – implications for type 2 diabetes
Influence of genetic variants on gene expression in human pancreatic islets – implications for type 2 diabetes Open
Most signals detected by genome-wide association studies map to non-coding sequence and their tissue-specific effects influence transcriptional regulation. However, many key tissues and cell-types required for appropriate functional infere…
View article: Time and space dimensions of gene dosage imbalance of aneuploidies revealed by single cell transcriptomes
Time and space dimensions of gene dosage imbalance of aneuploidies revealed by single cell transcriptomes Open
The mechanisms underlying cellular and organismal phenotypes due to copy number alterations (CNA) are not fully understood. Aneuploidy is a major source of gene dosage imbalance due to CNA and viable human trisomies are model disorders of …
View article: P108 Exploring the molecular basis of gender bias in systemic lupus erythematosus (SLE)
P108 Exploring the molecular basis of gender bias in systemic lupus erythematosus (SLE) Open
View article: Genomic dissection of Systemic Lupus Erythematosus: Distinct Susceptibility, Activity and Severity Signatures
Genomic dissection of Systemic Lupus Erythematosus: Distinct Susceptibility, Activity and Severity Signatures Open
Recent genetic and genomics approaches have yielded novel insights in the pathogenesis of Systemic Lupus Erythematosus (SLE) but the diagnosis, monitoring and treatment still remain largely empirical 1,2 . We reasoned that molecular charac…