Martin R. Wilkins

This study shows that impaired BCAA metabolism promotes ferroptosis, leading to pulmonary arterial hypertension and associated liver disease, and that targeting BCAA metabolism can alleviate these effects.

The paper identifies BX-912 as a compound that rescues SOX17 gene targets and prevents pulmonary hypertension in mice.

This study shows that impaired SOX17 expression increases pulmonary arterial hypertension risk by failing to suppress RUNX1, leading to endothelial dysfunction, and that RUNX1 inhibition can mitigate this condition.

This study identifies ATP13A3 as a polyamine transporter whose deficiency leads to endothelial dysfunction and pulmonary arterial hypertension.

Omada automates transcriptomic clustering by integrating machine learning, improving accessibility and robustness across diverse RNA expression datasets.

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.

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.

This study identifies two new PAH risk genes, FBLN2 and PDGFD, through rare variant analysis of 4,241 PAH cases, with de novo variants contributing to ~15% of pediatric IPAH.

This study uses whole-genome sequencing in a national healthcare system to diagnose rare diseases and discover new aetiological variants, identifying 95 Mendelian associations and 4 novel non-coding disease-causing variants.

This study identifies KLF2-induced microRNAs that protect endothelial cells and reduce pulmonary hypertension in animal models and patient samples.

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