María Gutiérrez‐Arcelus

This study profiles B cell activation states using multi-omics data to identify genetic mechanisms underlying immune-mediated diseases.

SPP1hi macrophages in RA synovial fibrin deposits promote tissue hyperplasia.

The paper identifies transcriptional disruptions in dendritic cells from SLE patients, highlighting interferon-driven changes, impaired IL-10 signaling, and altered lipid metabolism as key factors in tolerance dysfunction.

This study uses scRNA-seq to characterize CD4+ T cell subpopulations in SSc patients, identifying interferon-driven activation, reduced TNF signaling, and altered Treg states.

The paper identifies three immunologically distinct groups in lupus nephritis patients based on blood immunophenotyping, correlating with histopathology, treatment response, and renal outcomes.

This study identifies granzyme K as a driver of a novel complement activation pathway independent of classical, lectin, or alternative pathways.

This study identifies a GPVI-platelet-neutrophil-NET axis that drives systemic sclerosis fibrosis and presents it as a therapeutic target.

The paper identifies functional regulatory SNPs in SLE risk loci by testing their impact on transcription factor binding and gene expression.

The paper develops SCENT, a method to create cell-type-specific enhancer-gene maps from single-cell multimodal data, identifying causal variants and genes for diseases.

FORGEdb integrates genomic annotations to prioritize functional variants and target genes for complex diseases.

The paper identifies a regulatory pathway involving rs7034653, FRA2, and TRAF1 that explains how a non-coding variant increases risk of inflammatory arthritis.

The paper identifies a non-coding variant that increases ICOS expression, leading to more T peripheral helper cells and contributing to autoimmune diseases.

The paper deconstructs RA synovium using single-cell data to identify six cell type abundance phenotypes associated with distinct inflammatory states.

The paper identifies dynamic allele-specific expression changes in T cell activation, particularly in HLA genes, showing regulatory effects linked to autoimmune risk.

The paper identifies a genetic variant on 3q23 associated with early progression from Mycobacterium tuberculosis exposure to active tuberculosis in Peruvians, showing higher heritability than general TB susceptibility.

The paper identifies in vivo eQTL interactions with cytokine levels in a lupus trial, finding novel regulatory mechanisms and potential therapeutic targets.