ReviewClinical epigenetics2016
Genetic and epigenetic mechanisms in the development of arteriovenous malformations in the brain.
Review in Clinical epigenetics, 2016. 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 36 papers, 3 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
36 citing papers in PubMed, 3 syntheses or guidelines pooled it, 56 citations in OpenAlex.
- Molecular-genetic mechanisms of cerebral arteriovenous malformations: A systematic review of germline, somatic and experimental evidence.Neurosurgical review · 2026Pooled it
- Treatments of unruptured brain arteriovenous malformations: A systematic review and meta-analysis.Medicine · 2021Pooled it
- Medical Adjuvants in the Treatment of Surgically Refractory Arteriovenous Malformations of the Head and Face: Case Report and Review of Literature.Cerebrovascular diseases (Basel, Switzerland) · 2021Pooled it
- The molecular basis of arteriovenous malformations (AVMs): Review of inflammation in AVM pathogenesis.Neurosurgical review · 2026Review
- Decoding brain arteriovenous malformations: from genetic insights to modeling the vascular maze.Acta neuropathologica communications · 2026Review
- Reframing the arteriovenous malformation paradigm: A case supporting conservative management of enhanced myometrial vascularity after uterine instrumentation.Radiology case reports · 2026Article
- A rare arteriovenous communication between left testicular vein with left accessory renal artery and multiple renal vascular anomalies: understanding the genetic and embryological perspective.Jornal vascular brasileiro · 2026Article
- Arteriovenous Malformations (AVMs): Molecular Pathogenesis, Clinical Features, and Emerging Therapeutic Strategies.Biomolecules · 2025Review
- The interictal transcriptomic map of migraine without aura.The journal of headache and pain · 2025Article
- Basic Knowledge and Overview of Brain AVMs.Journal of neuroendovascular therapy · 2025Review
- Association Between theInternational journal of general medicine · 2024Article
- Nicotinic Acid-Mediated Modulation of Metastasis-Associated Protein 1 Methylation and Inflammation in Brain Arteriovenous Malformation.Biomolecules · 2023Article
- High cardiac output state due to pelvic arterio-venous shunt: a case report and review of the literature.ESC heart failure · 2023Review
- Clinical and anatomic description of patients with arteriovenous malformation treated with endovascular therapy in a Mexican population.Journal of cerebrovascular and endovascular neurosurgery · 2023Article
- Brain AVMs-Related microRNAs: Machine Learning Algorithm for Expression Profiles of Target Genes.Brain sciences · 2022Review
- DNA methylation signatures on vascular differentiation genes are aberrant in vessels of human cerebral arteriovenous malformation nidus.Clinical epigenetics · 2022Article
- Whole-Exome Sequencing Reveals Pathogenic SIRT1 Variant in Brain Arteriovenous Malformation: A Case Report.Genes · 2022Article
- Variable histopathology features of neuronal dyslamination in the cerebral neocortex adjacent to epilepsy-associated vascular malformations suggest complex pathogenesis of focal cortical dysplasia ILAE type IIIc.Brain pathology (Zurich, Switzerland) · 2022Review
- Fatal ruptured occult arteriovenous malformation in a young adult: An autopsy case report.Surgical neurology international · 2022Article
- Endothelial cilia dysfunction in pathogenesis of hereditary hemorrhagic telangiectasia.Frontiers in cell and developmental biology · 2022Article
Corrections and comments
- Erratum issued
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Vascular malformations are developmental congenital abnormalities of the vascular system which may involve any segment of the vascular tree such as capillaries, veins, arteries, or lymphatics. Arteriovenous malformations (AVMs) are congenital vascular lesions, initially described as "erectile tumors," characterized by atypical aggregation of dilated arteries and veins. They may occur in any part of the body, including the brain, heart, liver, and skin. Severe clinical manifestations occur only in the brain. There is absence of normal vascular structure at the subarteriolar level and dearth of capillary bed resulting in aberrant arteriovenous shunting. The causative factor and pathogenic mechanisms of AVMs are unknown. Importantly, no marker proteins have been identified for AVM. AVM is a high flow vascular malformation and is considered to develop because of variability in the hemodynamic forces of blood flow. Altered local hemodynamics in the blood vessels can affect cellular metabolism and may trigger epigenetic factors of the endothelial cell. The genes that are recognized to be associated with AVM might be modulated by various epigenetic factors. We propose that AVMs result from a series of changes in the DNA methylation and histone modifications in the genes connected to vascular development. Aberrant epigenetic modifications in the genome of endothelial cells may drive the artery or vein to an aberrant phenotype. This review focuses on the molecular pathways of arterial and venous development and discusses the role of hemodynamic forces in the development of AVM and possible link between hemodynamic forces and epigenetic mechanisms in the pathogenesis of AVM.
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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.