ArticleFrontiers in genetics2015
Research on potential biomarkers in hereditary hemorrhagic telangiectasia.
Article in Frontiers in genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 41 citations in OpenAlex.
- Modeling Somatic Second-Hit Mutations in Novel Mouse Models of Hereditary Hemorrhagic Telangiectasia.bioRxiv : the preprint server for biology · 2026Article
- miR‑205: A dual regulator of angiogenesis in health and disease (Review).International journal of molecular medicine · 2026Review
- Diagnostic and Prognostic Value of Angiogenic Status in Hereditary Hemorrhagic Telangiectasia.Diagnostics (Basel, Switzerland) · 2024Article
- ANG2 Blockade Diminishes Proangiogenic Cerebrovascular Defects Associated With Models of Hereditary Hemorrhagic Telangiectasia.Arteriosclerosis, thrombosis, and vascular biology · 2023Article
- The Essential Function of miR-5739 in Embryonic Muscle Development.International journal of stem cells · 2023Article
- Altered hypoxia inducible factor regulation in hereditary haemorrhagic telangiectasia.Scientific reports · 2022Article
- Generation of a Soluble Form of Human Endoglin Fused to Green Fluorescent Protein.International journal of molecular sciences · 2021Article
- Pilot investigation of circulating angiogenic and inflammatory biomarkers associated with vascular malformations.Orphanet journal of rare diseases · 2021Article
- Arteriovenous Malformations-Current Understanding of the Pathogenesis with Implications for Treatment.International journal of molecular sciences · 2021Review
- Thresholds of Endoglin Expression in Endothelial Cells Explains Vascular Etiology in Hereditary Hemorrhagic Telangiectasia Type 1.International journal of molecular sciences · 2021Article
- Pulmonary Vascular Complications in Hereditary Hemorrhagic Telangiectasia and the Underlying Pathophysiology.International journal of molecular sciences · 2021Review
- Potential Second-Hits in Hereditary Hemorrhagic Telangiectasia.Journal of clinical medicine · 2020Review
- Differential Expression of Circulating Plasma miRNA-370 and miRNA-10a from Patients with Hereditary Hemorrhagic Telangiectasia.Journal of clinical medicine · 2020Article
- Review of Pharmacological Strategies with Repurposed Drugs for Hereditary Hemorrhagic Telangiectasia Related Bleeding.Journal of clinical medicine · 2020Review
- Soluble endoglin regulates expression of angiogenesis-related proteins and induction of arteriovenous malformations in a mouse model of hereditary hemorrhagic telangiectasia.Disease models & mechanisms · 2018Article
- Whole-Body Distribution and Clinical Association of Telangiectases in Systemic Sclerosis.JAMA dermatology · 2018Article
- Vascular deficiency of Smad4 causes arteriovenous malformations: a mouse model of Hereditary Hemorrhagic Telangiectasia.Angiogenesis · 2018Article
- Treatment with low-dose tacrolimus inhibits bleeding complications in a patient with hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension.Pulmonary circulationArticle
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary hemorrhagic telangiectasia (HHT) is a genetically heterogeneous disorder, involving mutations in two predominant genes known as Endoglin (ENG; HHT1) and activin receptor-like kinase 1 (ACVRL1/ALK1; HHT2), as well as in some less frequent genes, such as MADH4/SMAD4 (JP-HHT) or BMP9/GDF2 (HHT5). The diagnosis of HHT patients currently remains at the clinical level, according to the "Curaçao criteria," whereas the molecular diagnosis is used to confirm or rule out suspected HHT cases, especially when a well characterized index case is present in the family or in an isolated population. Unfortunately, many suspected patients do not present a clear HHT diagnosis or do not show pathogenic mutations in HHT genes, prompting the need to investigate additional biomarkers of the disease. Here, several HHT biomarkers and novel methodological approaches developed during the last years will be reviewed. On one hand, products detected in plasma or serum samples: soluble proteins (vascular endothelial growth factor, transforming growth factor β1, soluble endoglin, angiopoietin-2) and microRNA variants (miR-27a, miR-205, miR-210). On the other hand, differential HHT gene expression fingerprinting, next generation sequencing of a panel of genes involved in HHT, and infrared spectroscopy combined with artificial neural network patterns will also be reviewed. All these biomarkers might help to improve and refine HHT diagnosis by distinguishing from the non-HHT population.
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