ArticleHuman genetics2005
Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.
Article in Human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Who cites it
42 citing papers in PubMed, 111 citations in OpenAlex.
- Oral itraconazole for epistaxis in hereditary hemorrhagic telangiectasia: a proof of concept study.Angiogenesis · 2021Trial
- Activin receptor-like kinase 1 is associated with immune cell infiltration and regulates CLEC14A transcription in cancer.Angiogenesis · 2019Trial
- Whole-genome resequencing with multidimensional annotation revealed pathogenic networks in sirenomelia.Italian journal of pediatrics · 2026Article
- Towards precision medicine for brain arteriovenous malformations.The Journal of clinical investigation · 2026Review
- Challenges in the management of vascular liver disorders in women in the reproductive period.Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology · 2026Review
- Diagnostic and therapeutic dilemmas of asymptomatic intracranial AVMs: A case report and evidence-based review.Radiology case reports · 2024Article
- A new variant in theERJ open research · 2024Article
- Pathogenic Variant Frequencies in Hereditary Haemorrhagic Telangiectasia Support Clinical Evidence of Protection from Myocardial Infarction.Journal of clinical medicine · 2023Article
- Multi-organ hereditary hemorrhagic telangiectasia: A case report.World journal of clinical cases · 2023Article
- Pathogenic mutation hotspots in protein kinase domain structure.Protein science : a publication of the Protein Society · 2023Article
- Computational and Experimental Analyses for Pathogenicity Prediction ofJournal of clinical medicine · 2023Article
- Generation of a Syngeneic HeterozygousCells · 2023Article
- An Unusual Cause of Right Heart Dysfunction and High Output Heart Failure in a Young Woman.Journal of cardiovascular development and disease · 2022Article
- Pulmonary Hypertension Associated Genetic Variants in Sarcoidosis Associated Pulmonary Hypertension.Diagnostics (Basel, Switzerland) · 2022Article
- Hereditary Hemorrhagic Telangiectasia: Genetics, Pathophysiology, Diagnosis, and Management.Journal of clinical medicine · 2022Review
- Vascular defects associated with hereditary hemorrhagic telangiectasia revealed in patient-derived isogenic iPSCs in 3D vessels on chip.Stem cell reports · 2022Article
- An update on the ophthalmic features in hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).International ophthalmology · 2022Review
- Endothelial cilia dysfunction in pathogenesis of hereditary hemorrhagic telangiectasia.Frontiers in cell and developmental biology · 2022Article
- Current Status of Clinical and Genetic Screening of Hereditary Hemorrhagic Telangiectasia Families in Hungary.Journal of clinical medicine · 2021Article
- Founder Effects in Hereditary Hemorrhagic Telangiectasia.Journal of clinical medicine · 2021Review
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber disease is an autosomal dominant disorder characterized by an aberrant vascular development. The resulting vascular lesions range from smaller mucocutaneous telangiectases to large visceral arteriovenous malformations, especially in the skin, lung, gastrointestinal tract and the brain. Mutations in the genes encoding endoglin (ENG, chromosome 9q34) and activin A receptor type-like kinase 1 (ALK-1, also named ACVRL1, chromosome 12q13) are associated with HHT1 and HHT2, respectively. We report here on the genetic and molecular heterogeneity found in the HHT population in the Netherlands. Probands of 104 apparently unrelated families were studied and we performed sequence analysis on both the ENG gene and ALK-1 gene. In most of the probands, we found a mutation in one of the two genes: 53% in the ENG gene and 40% in the ALK-1 gene. In 7% of the families no ENG or ALK1 mutation was found. The mutations detected were deletions, insertions, nonsense, missense and splice site mutations. The majority were novel mutations.
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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.