Micheala A. Aldred

The mitochondrial unfolded protein response and metabolic reprogramming promote PASMC proliferation in response to sphingosine kinase-1/sphingosine-1-phosphate signaling

This study shows that the Sphk1/S1P/S1P2 signaling axis promotes PASMC proliferation in PAH via activation of the mitochondrial unfolded protein response (UPRmt), which can be inhibited to reduce vascular remodeling.

Loss of Tbx4 Affects Postnatal Lung Development and Predisposes to Pulmonary Hypertension.

This study shows that loss of Tbx4 in embryonic lung mesenchyme leads to postnatal lung developmental defects and increased pulmonary hypertension.

Adaptation of ACMG/AMP guidelines for clinical classification of BMPR2 variants in Pulmonary Arterial Hypertension resolves variants of unclear pathogenicity in ClinVar.

The paper develops adapted ACMG/AMP guidelines for classifying BMPR2 variants in PAH, resolving 66% of uncertain variants as benign or likely benign.

Single-cell transcriptomics reveal diverging pathobiology and opportunities for precision targeting in scleroderma-associated versus idiopathic pulmonary arterial hypertension

This study uses single-cell RNA sequencing to compare scleroderma-associated and idiopathic pulmonary arterial hypertension, identifying distinct pathobiological features and potential drug targets.

Role of Forkhead box F1 in the Pathobiology of Pulmonary Arterial Hypertension

The paper identifies rare FOXF1 missense variants in PAH patients, shows dysregulated FOXF1 expression in PAH lungs, and identifies downstream targets linked to PAH pathogenesis.

Transcriptome-wide analysis of primary human endothelial cell responses to 1 hour of protein translation inhibition identify nonsense mediated decay targets and a non-coding SLC11A2 exon as an acute biomarker

The paper identifies NMD targets and a non-coding SLC11A2 exon as an acute biomarker by analyzing transcriptome changes in human endothelial cells after cycloheximide treatment.

Defining the Clinical Validity of Genes Reported to Cause Pulmonary Arterial Hypertension

This paper classifies PAH-related genes based on evidence strength using a semi-quantitative scoring system, identifying twelve genes with definitive evidence and recommending their inclusion in genetic testing panels.

Functional filter for whole genome sequence data identifies stress impact, non-coding, alternate polyadenylation site variants >5kb from coding DNA

GROFFFY filters whole genome sequence data to identify non-coding and polyadenylation site variants, improving detection of disease-causing variants in unsolved cases.

Integrative Multiomics to Dissect the Lung Transcriptional Landscape of Pulmonary Arterial Hypertension

The paper identifies a gene co-expression module, the pink module, associated with PAH severity, genetic risk, vascular cell types, and therapeutic targets through multiomics integration.

De novo mutations across 1,465 diverse genomes reveal novel mutational insights and reductions in the Amish founder population.

The paper analyzes de novo mutations in 1,465 genomes to show similar mutation rates across ancestries but reduced rates in the Amish population, with environmental factors possibly influencing mutation rates.

Identification of novel rare sequence variation underlying heritable pulmonary arterial hypertension

This study identifies novel rare genetic variants associated with heritable pulmonary arterial hypertension through whole genome sequencing of cases and controls.