ArticleJCI insight2021
Developmental vascular malformations in EPAS1 gain-of-function syndrome.
Article in JCI insight, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 26 citations in OpenAlex.
- Expanding the clinical tumor phenotype of the EPAS1-asssociated tumor syndrome.The Journal of clinical endocrinology and metabolism · 2026Article
- Article
- Hypoxia-inducible factors link inflammation and lipid metabolism in atherosclerotic macrophages.Frontiers in cardiovascular medicine · 2026Review
- A schema for sporadic and heritable disease pathogenesis integrating spatiotemporal distribution with the character of genetic variants.Communications medicine · 2025Article
- Chronic cerebral hypoperfusion induces venous dysfunction via EPAS1 regulation in mice.Nature communications · 2025Article
- Head and neck paraganglioma in Pacak-Zhuang syndrome.JNCI cancer spectrum · 2025Article
- Article
- Article
- HIF2A mediates lineage transition to aggressive phenotype of cancer-associated fibroblasts in lung cancer brain metastasis.Oncoimmunology · 2024Article
- Increased HIF-2α activity in the nucleus pulposus causes intervertebral disc degeneration in the aging mouse spine.Frontiers in cell and developmental biology · 2024Article
- Pacak-Zhuang syndrome: a model providing new insights into tumor syndromes.Endocrine-related cancer · 2023Review
- A novel HIF2A mutation causes dyslipidemia and promotes hepatic lipid accumulation.Pharmacological research · 2023Article
- Convergent molecular evolution of thermogenesis and circadian rhythm in Arctic ruminants.Proceedings. Biological sciences · 2023Article
- Somatic Mosaicism of EPAS1 Mutations in Pacak-Zhuang Syndrome.Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists · 2022Article
- Neuropilin-1 deficiency in vascular smooth muscle cells is associated with hereditary hemorrhagic telangiectasia arteriovenous malformations.JCI insight · 2022Article
- The Role of Ferric Nitrilotriacetate in Renal Carcinogenesis and Cell Death: From Animal Models to Clinical Implications.Cancers · 2022Review
- Non-invasiveCell reports methods · 2022Article
- Belzutifan, a Potent HIF2α Inhibitor, in the Pacak-Zhuang Syndrome.The New England journal of medicine · 2021Article
- Tentorial venous anatomy of mice and humans.JCI insight · 2021Article
- Multimodal Atlas of the Murine Inner Ear: From Embryo to Adult.Frontiers in neurology · 2021Article
Corrections and comments
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Authors and funding
24 authors at 11 institutions in 1 country.
Funding
Abstract
Mutations in EPAS1, encoding hypoxia-inducible factor-2α (HIF-2α), were previously identified in a syndrome of multiple paragangliomas, somatostatinoma, and polycythemia. HIF-2α, when dimerized with HIF-1β, acts as an angiogenic transcription factor. Patients referred to the NIH for new, recurrent, and/or metastatic paraganglioma or pheochromocytoma were confirmed for EPAS1 gain-of-function mutation; imaging was evaluated for vascular malformations. We evaluated the Epas1A529V transgenic syndrome mouse model, corresponding to the mutation initially detected in the patients (EPAS1A530V), for vascular malformations via intravital 2-photon microscopy of meningeal vessels, terminal vascular perfusion with Microfil silicate polymer and subsequent intact ex vivo 14T MRI and micro-CT, and histologic sectioning and staining of the brain and identified pathologies. Further, we evaluated retinas from corresponding developmental time points (P7, P14, and P21) and the adult dura via immunofluorescent labeling of vessels and confocal imaging. We identified a spectrum of vascular malformations in all 9 syndromic patients and in all our tested mutant mice. Patient vessels had higher variant allele frequency than adjacent normal tissue. Veins of the murine retina and intracranial dura failed to regress normally at the expected developmental time points. These findings add vascular malformation as a new clinical feature of EPAS1 gain-of-function syndrome.
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Registered trials
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.