ArticleThe American journal of pathology2001
Potential role of modifier genes influencing transforming growth factor-beta1 levels in the development of vascular defects in endoglin heterozygous mice with hereditary hemorrhagic telangiectasia.
Article in The American journal of pathology, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 108 citations in OpenAlex.
- Evaluating Animal Models of Arteriovenous Malformation and Intracerebral Aneurysm: A Mechanistic Approach.Stroke (Hoboken, N.J.) · 2025Review
- Thresholds of Endoglin Expression in Endothelial Cells Explains Vascular Etiology in Hereditary Hemorrhagic Telangiectasia Type 1.International journal of molecular sciences · 2021Article
- Endoglin: An 'Accessory' Receptor Regulating Blood Cell Development and Inflammation.International journal of molecular sciences · 2020Review
- Potential Second-Hits in Hereditary Hemorrhagic Telangiectasia.Journal of clinical medicine · 2020Review
- Biglycan in the Skeleton.The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society · 2020Review
- Differential Consequences ofCells · 2019Article
- Bone Morphogenetic Proteins in Vascular Homeostasis and Disease.Cold Spring Harbor perspectives in biology · 2018Review
- TGF-β Signaling in Control of Cardiovascular Function.Cold Spring Harbor perspectives in biology · 2018Review
- Article
- Integrin β8 Deletion Enhances Vascular Dysplasia and Hemorrhage in the Brain of Adult Alk1 Heterozygous Mice.Translational stroke research · 2016Article
- Pathogenesis of Brain Arteriovenous Malformations.Neurologia medico-chirurgica · 2016Review
- DLL4/Notch1 and BMP9 Interdependent Signaling Induces Human Endothelial Cell Quiescence via P27KIP1 and Thrombospondin-1.Arteriosclerosis, thrombosis, and vascular biology · 2015Article
- Accurate genetic diagnosis of Finnish pulmonary arterial hypertension patients using oligonucleotide-selective sequencing.Molecular genetics & genomic medicine · 2015Article
- Research on potential biomarkers in hereditary hemorrhagic telangiectasia.Frontiers in genetics · 2015Article
- Contribution of oxidative stress to endothelial dysfunction in hereditary hemorrhagic telangiectasia.Frontiers in genetics · 2015Article
- Pericytes as targets in hereditary hemorrhagic telangiectasia.Frontiers in genetics · 2015Review
- Endoglin in liver fibrogenesis: Bridging basic science and clinical practice.World journal of biological chemistry · 2014Review
- Article
- Impaired resolution of inflammation in the Endoglin heterozygous mouse model of chronic colitis.Mediators of inflammation · 2014Article
- Article
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Authors and funding
6 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder because of mutations in the genes coding for endoglin (HHT1) or ALK-1 (HHT2). The disease is associated with haploinsufficiency and a murine model was obtained by engineering mice that express a single Endoglin allele. Of a total of 171 mice that were observed for 1 year, 50 developed clinical signs of HHT. Disease prevalence was high in 129/Ola strain (72%), intermediate in the intercrosses (36%), and low in C57BL/6 backcrosses (7%). Most mice first presented with an ear telangiectasia and/or recurrent external hemorrhage. One-third of mice with HHT showed severe vascular abnormalities such as dilated vessels, hemorrhages, liver and lung congestion, and/or brain and heart ischemia. Disease sequelae included stroke, hydrocephalus, fatal hemorrhage, and congestive heart failure. Thus the murine model reproduces the multiorgan manifestations of the human disease. Levels of circulating latent transforming growth factor (TGF)-beta1 were significantly lower in the 129/Ola than in the C57BL/6 strain. Intercrosses and 129/Ola mice expressing reduced endoglin also showed lower plasma TGF-beta1 levels than control. These data suggest that modifier genes involved in the regulation of TGF-beta1 expression act in combination with a single functional copy of endoglin in the development of HHT.
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