Gisli R. Jenkins

This study identifies three novel genetic signals associated with idiopathic pulmonary fibrosis using GWAS and clinically-curated datasets, highlighting potential drug targets like MUC1 and NTN4.

This study evaluates the genetic risk variants for idiopathic pulmonary fibrosis in non-European populations, finding partial replication and ancestry-specific effects, with rs35705950 as the most consistent signal.

This study shows that polygenic risk scores improve the identification of IPF patients carrying rare variants associated with monogenic pulmonary fibrosis.

This study performs GWAS of IPF using dominant and recessive models, identifying five new genome-wide significant signals and genes, including PMF1 and EPN3, and observing increased PMF1 expression in IPF patients.

This study shows that an AKAP13 genetic variant promotes fibrosis by altering epithelial signaling, and inhibiting AKAP13's RhoGEF activity reduces fibrotic markers in IPF models.

This study identifies SLC15A4 as a susceptibility gene for IPF through genome-wide analysis of tandem repeat variation, showing its role in gene expression and disease risk.

The paper uses spatial multiomic profiling to identify distinct fibrotic epithelial niches in IPF, revealing a KRT5low/KRT17 epithelial population and its association with SPP1 macrophages.

This study investigates the impact of rare variants and polygenic risk scores on survival in idiopathic pulmonary fibrosis patients, finding that rare variants are associated with worse outcomes.

The paper identifies rare pathogenic variants associated with pulmonary fibrosis by analyzing whole genome sequencing data and linking them to cytoskeletal dysfunction.

This study investigates the association between mosaic loss of chromosome Y (mLOY) and pulmonary fibrosis, finding mLOY correlates with age and telomere length but not disease severity, and suggests a potential link between telomere shortening and mLOY.

This paper investigates how galectin-3 enhances TGF-β1 activation and signaling in lung fibroblasts, contributing to idiopathic pulmonary fibrosis.

This study identifies three genetic variants with sex-specific effects on IPF susceptibility but finds no significant difference in predictive accuracy of polygenic risk scores between males and females.

This study investigates the association between HLA genetic variants and IPF risk using a meta-analysis of seven case-control studies, finding no consistent HLA region associations.

The paper identifies shared and opposing genetic risk factors between IPF and hypertension, suggesting potential fibrotic mechanisms and therapeutic considerations.

The paper identifies four novel genetic variants associated with IPF survival, including a PCSK6 variant, and suggests PCSK6 as a prognostic biomarker and therapeutic target.

A stabilized miR-29 mimic, MRG-229, shows efficacy at lower doses and good safety in preclinical models, supporting its development for pulmonary fibrosis.

This study performs a large multi-ancestry meta-analysis of IPF genetics, identifying seven novel genome-wide significant loci and highlighting pleiotropy with severe COVID-19 and sex-heterogeneity at the MUC5B locus.

This study performs a genome-wide meta-analysis across five IPF cohorts, identifying five novel genetic loci associated with idiopathic pulmonary fibrosis.

This study identifies four genetic loci, including one novel, with shared causal variants between severe COVID-19 and idiopathic pulmonary fibrosis (IPF), revealing both shared and distinct biological processes.

This paper investigates the genetic link between idiopathic pulmonary fibrosis and severe COVID-19, finding a positive genetic correlation and suggesting a causal effect of most IPF risk variants on COVID-19 severity, except for the MUC5B variant which shows protective effects.

This study shows that mesenchymal Gαq/11 signaling regulates TGFβ2 activation in response to stretch, which is critical for alveologenesis and lung homeostasis.

The paper identifies a novel missense variant in SPDL1 associated with idiopathic pulmonary fibrosis through genome-wide association analysis.

This study identifies three new genetic loci associated with idiopathic pulmonary fibrosis and confirms 11 previously reported ones, highlighting mTOR signaling and mitotic spindle-assembly genes in disease susceptibility.