ArticleNature communications2021
Biological heterogeneity in idiopathic pulmonary arterial hypertension identified through unsupervised transcriptomic profiling of whole blood.
Article in Nature communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 40 papers.
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Who cites it
40 citing papers in PubMed, 53 citations in OpenAlex.
- Smoking-Related Clinical and Molecular Abnormalities in Idiopathic Pulmonary Fibrosis-Associated Pulmonary Hypertension.Pulmonary circulation · 2026Article
- Artificial Intelligence and Multi-Omics Approaches in the Precision Management of Pulmonary Hypertension: From Early Diagnosis to Therapeutic Stratification.International journal of molecular sciences · 2026Review
- Individualized Interactomes From Pulmonary Arterial Hypertension Cell Biopsies Inform Pharmacotherapeutic Response.JACC. Basic to translational science · 2026Article
- Endotypes of Vascular Health Predict Transplantation-Free Survival in Pulmonary Hypertension.Journal of the American Heart Association · 2026Article
- Phenotypic Clustering of Idiopathic Pulmonary Arterial Hypertension: Insights Into Pulmonary Vascular and Cardiometabolic Co-Morbidity Trajectories.Pulmonary circulation · 2026Article
- Advances in the pathogenesis and clinical management of pulmonary hypertension.Medical review (2021) · 2026Review
- A blood biomarker to specifically identify idiopathic pulmonary arterial hypertension.Nature cardiovascular research · 2026Article
- Alternative Polyadenylation Signatures Distinguish Maladaptive Right Ventricular Remodeling in Pulmonary Hypertension: Implications for RNA-Based Diagnostics and Therapeutics.British journal of biomedical science · 2026Article
- Inflammation and Obesity Correlate in Pulmonary Hypertension but Are Associated with Diverging Outcomes.American journal of respiratory and critical care medicine · 2026Article
- The NOTCH3 extracellular domain is a serum biomarker for pulmonary arterial hypertension.Nature medicine · 2026Article
- Endoglin as a BMP9 co-receptor in vascular endothelial cells: prodomain displacement and TGFBRII recruitment.Nature communications · 2025Article
- BMP9 knockout impairs pulmonary vessel muscularisation and confers aberrant tamoxifen sensitivity.Angiogenesis · 2025Article
- Therapeutic targets for pulmonary arterial hypertension: insights into the emerging landscape.Expert opinion on therapeutic targets · 2025Review
- Peripheral Transcriptomics in Acute and Long-Term Kidney Dysfunction in SARS-CoV-2 Infection.Kidney360 · 2025Article
- Mechanisms and treatment of pulmonary arterial hypertension.Nature reviews. Cardiology · 2025Review
- Machine learning-based integration develops an immune-derived signature for diagnosing high-altitude pulmonary hypertension.Frontiers in medicine · 2025Article
- Shear stress unveils patient-specific transcriptional signatures in PAH: Towards personalized molecular diagnostics.Theranostics · 2025Article
- Transfer RNA-derived small RNAs as novel players and biomarkers in cardiovascular disease.Cardiology journal · 2025Review
- Precision Medicine for Pulmonary Vascular Disease: The Future Is Now (2023 Grover Conference Series).Pulmonary circulation · 2025Article
- Reversal of inflammatory reprogramming by vasodilator agents in pulmonary hypertension.ERJ open research · 2025Article
Corrections and comments
- Erratum issued
Authors and funding
35 authors at 20 institutions in 6 countries.
Funding
Abstract
Idiopathic pulmonary arterial hypertension (IPAH) is a rare but fatal disease diagnosed by right heart catheterisation and the exclusion of other forms of pulmonary arterial hypertension, producing a heterogeneous population with varied treatment response. Here we show unsupervised machine learning identification of three major patient subgroups that account for 92% of the cohort, each with unique whole blood transcriptomic and clinical feature signatures. These subgroups are associated with poor, moderate, and good prognosis. The poor prognosis subgroup is associated with upregulation of the ALAS2 and downregulation of several immunoglobulin genes, while the good prognosis subgroup is defined by upregulation of the bone morphogenetic protein signalling regulator NOG, and the C/C variant of HLA-DPA1/DPB1 (independently associated with survival). These findings independently validated provide evidence for the existence of 3 major subgroups (endophenotypes) within the IPAH classification, could improve risk stratification and provide molecular insights into the pathogenesis of IPAH.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.