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Cloning of the Promoter Region of Human Endoglin, the Target Gene for Hereditary Hemorrhagic Telangiectasia Type 1

15 Dec 1998

Abstract excerpt

Endoglin (CD105) is a cell surface component of the transforming growth factor-beta (TGF-beta) receptor complex highly expressed by endothelial cells. Mutations in the endoglin gene are responsible for the hereditary hemorrhagic telangiectasia type 1 (HHT1), also known as Osler-Weber-Rendu syndrome (OMIM 187300). This is an autosomal dominant vascular disorder probably caused by a haploinsufficiency mechanism...

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PMID: 9845534
DOI: 10.1182/blood.v92.12.4677

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Cloning of the Promoter Region of Human Endoglin, the Target Gene for Hereditary Hemorrhagic Telangiectasia Type 1PMID 9845534Read ↗

Endoglin Expression Is Regulated by Transcriptional Cooperation between the Hypoxia and Transforming Growth Factor-β PathwaysSemantic proximity Read ↗

Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1.Semantic proximity Read ↗

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Identification of a Critical Sp1 Site within the Endoglin Promoter and Its Involvement in the Transforming Growth Factor-β StimulationSemantic proximity Read ↗

Endoglin involvement in integrin-mediated cell adhesion as a putative pathogenic mechanism in hereditary hemorrhagic telangiectasia type 1 (HHT1)Semantic proximity Read ↗

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Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin.Semantic proximity Read ↗

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Gene expression fingerprinting for human hereditary hemorrhagic telangiectasia.Semantic proximity Read ↗

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Expression analysis of endoglin missense and truncation mutations: insights into protein structure and disease mechanismsSemantic proximity Read ↗

Novel biochemical pathways of endoglin in vascular cell physiologySemantic proximity Read ↗

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