ReviewClinical medicine & research2006
Hereditary hemorrhagic telangiectasia, a vascular dysplasia affecting the TGF-beta signaling pathway.
Review in Clinical medicine & research, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 71 papers, 1 of them a synthesis 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.
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Who cites it
71 citing papers in PubMed, 1 synthesis or guideline pooled it, 160 citations in OpenAlex.
- Endoglin and Systemic Sclerosis: A PRISMA-driven systematic review.Frontiers in medicine · 2022Pooled it
- Trial
- Atypical Presentation of Hereditary Hemorrhagic Telangiectasia Without Recurrent Epistaxis Leading to Delayed Diagnosis.The American journal of case reports · 2026Article
- Coronary endothelial cells undergo venous-enriched disrupted maturation following myocardial infarction.Basic research in cardiology · 2026Article
- Hereditary Hemorrhagic telangiectasia: a rare familial case with delayed diagnosis despite decades of recurrent bleeding.Oxford medical case reports · 2025Article
- Article
- Diagnostic and Prognostic Value of Angiogenic Status in Hereditary Hemorrhagic Telangiectasia.Diagnostics (Basel, Switzerland) · 2024Article
- Molecular and Functional Cargo of Plasma-Derived Exosomes in Patients with Hereditary Hemorrhagic Telangiectasia.Journal of clinical medicine · 2024Article
- Endothelial-to-Mesenchymal Transition in an Hereditary Hemorrhagic Telangiectasia-like Pediatric Case of Multiple Pulmonary Arteriovenous Malformations.International journal of molecular sciences · 2024Article
- Article
- Evaluation of ENG/CD105 expression, methylation, immuno-response, and cordycepin (CD) regulation as a novel biomarker of breast invasive carcinoma (BRCA).Journal of Cancer · 2024Article
- Hepatic Vascular Variants in Hereditary Haemorrhagic Telangiectasia: Imaging findings.Sultan Qaboos University medical journal · 2023Article
- The Role and Therapeutic Implications of Inflammation in the Pathogenesis of Brain Arteriovenous Malformations.Biomedicines · 2023Review
- Pulmonary hypertension in hereditary hemorrhagic telangiectasia: A clinical review.Pulmonary circulation · 2023Review
- Review
- Expanded phenotypic and hematologic abnormalities beyond bone marrow failure in MECOM-associated syndromes.American journal of medical genetics. Part A · 2023Article
- Ruptured bilateral brain arteriovenous malformations in a young woman with early pregnancy: a case report.Journal of medical case reports · 2023Article
- Osler-Weber-Rendu syndrome: A case report on a rare vascular malformation presented with lower gastrointestinal bleeding.Clinical case reports · 2023Article
- Human Endothelial Colony-Forming Cells.Cold Spring Harbor perspectives in medicine · 2022Article
- Hereditary Hemorrhagic Telangiectasia: Genetics, Pathophysiology, Diagnosis, and Management.Journal of clinical medicine · 2022Review
11 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary hemorrhagic telangiectasia (HHT) is caused by mutations in endoglin (ENG; HHT1) or ACVRL1/ALK1 (HHT2) genes and is an autosomal dominant vascular dysplasia. Clinically, HHT is characterized by epistaxis, telangiectases and arteriovenous malformations in some internal organs such as the lung, brain or liver. Endoglin and ALK1 proteins are specific endothelial receptors of the transforming growth factor (TGF)-beta superfamily that are essential for vascular integrity. Genetic studies in mice and humans have revealed the pivotal role of TGF-beta signaling during angiogenesis. Through binding to the TGF-beta type II receptor, TGF-beta can activate two distinct type I receptors (ALK1 and ALK5) in endothelial cells, each one leading to opposite effects on endothelial cell proliferation and migration. The recent isolation and characterization of circulating endothelial cells from HHT patients has revealed a decreased endoglin expression, impaired ALK1- and ALK5-dependent TGF-beta signaling, disorganized cytoskeleton and the failure to form cord-like structures which may lead to the fragility of small vessels with bleeding characteristic of HHT vascular dysplasia or to disrupted and abnormal angiogenesis after injuries and may explain the clinical symptoms associated with this disease.
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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.