ArticleThe Journal of clinical investigation1997
Mutant endoglin in hereditary hemorrhagic telangiectasia type 1 is transiently expressed intracellularly and is not a dominant negative.
Article in The Journal of clinical investigation, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
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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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.
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Who cites it
45 citing papers in PubMed, 156 citations in OpenAlex.
- Variant analysis in Chinese families with hereditary hemorrhagic telangiectasia.Molecular genetics & genomic medicine · 2019Trial
- Multiple lesion-specific somatic mutations and bi-allelic loss of ACVRL1 in a single patient with hereditary haemorrhagic telangiectasia.European journal of human genetics : EJHG · 2026Article
- The Role of Somatic Mutation in Hereditary Hemorrhagic Telangiectasia Pathogenesis.Journal of clinical medicine · 2025Review
- Somatic mutations in arteriovenous malformations in hereditary hemorrhagic telangiectasia support a bi-allelic two-hit mutation mechanism of pathogenesis.American journal of human genetics · 2024Article
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- VEGFR2 Expression Correlates with Postnatal Development of Brain Arteriovenous Malformations in a Mouse Model of Type I Hereditary Hemorrhagic Telangiectasia.Biomedicines · 2023Article
- TGF-β superfamily co-receptors in cancer.Developmental dynamics : an official publication of the American Association of Anatomists · 2022Review
- Endothelial cilia dysfunction in pathogenesis of hereditary hemorrhagic telangiectasia.Frontiers in cell and developmental biology · 2022Article
- Founder Effects in Hereditary Hemorrhagic Telangiectasia.Journal of clinical medicine · 2021Review
- Endoglin: Beyond the Endothelium.Biomolecules · 2020Review
- Novel mutation in ENG gene causing Hereditary Hemorrhagic Telangiectasia in a Peruvian family.Genetics and molecular biology · 2020Article
- Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1.American journal of human genetics · 2019Article
- Pathogenesis of Brain Arteriovenous Malformations.Neurologia medico-chirurgica · 2016Review
- Regulation of TGF-β receptor hetero-oligomerization and signaling by endoglin.Molecular biology of the cell · 2015Article
- Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era.Frontiers in genetics · 2015Review
- Endoglin in liver fibrogenesis: Bridging basic science and clinical practice.World journal of biological chemistry · 2014Review
- Emerging roles of BMP9 and BMP10 in hereditary hemorrhagic telangiectasia.Frontiers in genetics · 2014Article
- Hereditary hemorrhagic telangiectasia in Japanese patients.Journal of human genetics · 2014Article
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Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Endoglin (CD105), a component of the TGF-beta 1 receptor complex, is the target gene for the dominantly inherited vascular disorder hereditary hemorrhagic telangiectasia type 1 (HHT1). We have identified a novel endoglin splice site mutation, leading to an in-frame deletion of exon 3, in a new-born from a family with HHT. Expression of normal and mutant endoglin proteins was analyzed in umbilical vein endothelial cells from this baby and in activated monocytes from the affected father. In both samples, only normal dimeric endoglin (160 kD) was observed at the cell surface, at 50% of control levels. Despite an intact transmembrane region, mutant protein was only detectable by metabolic labeling, as an intracellular homodimer of 130 kD. In monocytes from three clinically affected HHT1 patients, with known mutations creating premature stop codons in exons 8 and 10, surface endoglin was also reduced by half and no mutant was detected. Overexpression into COS-1 cells of endoglin cDNA truncated in exons 7 and 11, revealed their intracellular expression, inability to be secreted and to form heterodimers at the cell surface. These results indicate that mutated forms of endoglin are transiently expressed intracellularly and not likely to act as dominant negative proteins, as proposed previously. A reduction in the level of functional endoglin is thus involved in the generation of HHT1, and associated arteriovenous malformations.
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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.