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Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease
Open accessAbstract
Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterised by epistaxis, telangiectases, and multiorgan vascular dysplasia. The two major types of disease, HHT1 and HHT2, are caused by mutations in the ENG (endoglin) and ACVRL1 genes, respectively. The corresponding endoglin and ALK-1 proteins are specific endothelial receptors of the transforming growth factor β superfamily essential for maintaining vascular integrity. Many mutations have been identified in ENG and ACVRL1 genes and support the haploinsufficiency model for HHT. Two more genes have recently been implicated in HHT: MADH4 mutated in a combined syndrome of juvenile polyposis and HHT (JPHT), and an unidentified HHT3 gene linked to chromosome 5. Current knowledge on the genetics of HHT is summarised, including the pathways that link the genes responsible for HHT and the potential mechanisms underlying the pathogenesis of the disease.
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Cites
Role of Smad4 (DPC4) inactivation in human cancer
Miyaki, M., & Kuroki, T. (2003) · Biochemical and Biophysical Research Communications · doi:10.1016/s0006-291x(03)01066-0 · Cited by 242
Cited by
Phenotypic Heterogeneity of the Endothelium: II. Representative Vascular Beds
Aird, W. C. (2007) · Circulation Research · doi:10.1161/01.res.0000255690.03436.ae · Cited by 1,257
Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era
McDonald, J., Wooderchak-Donahue, W., VanSant Webb, C., Whitehead, K., Stevenson, D. A., & Bayrak-Toydemir, P. (2015) · Frontiers in Genetics · doi:10.3389/fgene.2015.00001 · Cited by 726
TGF-β signaling in vascular biology and dysfunction
Goumans, M.-J., Liu, Z., & ten Dijke, P. (2009) · Cell Research · doi:10.1038/cr.2008.326 · Cited by 601
Revencu, N., Boon, L. M., Mulliken, J. B., Enjolras, O., Cordisco, M. R., Burrows, P. E., Clapuyt, P., Hammer, F., Dubois, J., Baselga, E., et al. (2008) · Human Mutation · doi:10.1002/humu.20746 · Cited by 435
TGF-β Signaling in Control of Cardiovascular Function
Goumans, M.-J., & ten Dijke, P. (2018) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a022210 · Cited by 360
Metadata
- Authors
- Abdalla, S. A., & Letarte, M.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2005-05-06
- Volume
- 43
- Issue
- 2
- Pages
- 97-110
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2143723459
- Cited by
- 381
- References
- 1
- FWCI
- 6.68
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Abdalla, S. A., & Letarte, M. (2006). Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease. Journal of Medical Genetics. https://doi.org/10.1136/jmg.2005.030833
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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