Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by aberrant vascular development. Mutations in two genes, endoglin (ENG) and activin receptor-like kinase 1 (ACVRL1) are associated with HHT. The present case study revealed the molecular diagnosis in a family exhibiting the clinical features of HHT disease. The coding exon and flanking intronic regions ...

Endoglin (ENG), a co-receptor for several TGFβ-family cytokines, is expressed in dividing endothelial cells alongside ALK1, the ACVRL1 gene product. ENG and ACVRL1 are both required for angiogenesis and mutations in either gene are associated with Hereditary Hemorrhagic Telangectasia, a rare genetic vascular disorder. ENG and ALK1 function in the same genetic pathway but the relative contributi...

The goal of the present study was to evaluate the role of endoglin, a transforming growth factor-beta1 (TGF-beta1) accessory receptor, in the pathogenesis of renal fibrosis. This was achieved by testing a model of tubulo-interstitial fibrosis induced by unilateral ureteral obstruction in endoglin heterozygous (Eng(+/-)) mice. Northern and Western blot analysis revealed that endoglin expression ...

Background. Radiotherapy is commonly used to treat breast and thoracic cancers but it also causes delayed microvascular damage and increases the risk of cardiac mortality. Endothelial cell proliferation and revascularization are crucial to restore microvasculature damage and maintain function of the irradiated heart. We have therefore examined the potential of bone marrow-derived endothelial pr...

BACKGROUND AND PURPOSE Bone marrow-derived cells (BMDCs) home to vascular endothelial growth factor (VEGF)-induced brain angiogenic foci, and VEGF induces cerebrovascular dysplasia in adult endoglin heterozygous (Eng(+/-)) mice. We hypothesized that Eng(+/-) BMDCs cause cerebrovascular dysplasia in the adult mouse after VEGF stimulation. METHODS BM transplantation was performed using adult wi...

Statement of Interest: Statements of interest for S. Birring and I. Pavord can be found at www.erj.ersjournals.com/site/misc/ statements.xhtml REFERENCES 1 Pavord ID, Chung KF. Management of chronic cough. Lancet 2008; 371: 1375–1384. 2 Morice AH, McGarvey L, Pavord ID. Recommendations for the management of cough in adults. Thorax 2006; 61: 1–24. 3 Birring SS, Fleming T, Matos S, et al. The Lei...

OBJECTIVE Hereditary hemorrhagic telangiectasia is a genetic disorder characterized by visceral and mucocutaneous arteriovenous malformations (AVMs). Clinically indistinguishable hereditary hemorrhagic telangiectasia 1 and hereditary hemorrhagic telangiectasia 2 are caused by mutations in ENG and ALK1, respectively. In this study, we have compared the development of visceral and mucocutaneous A...

Increased levels of soluble endoglin (Sol-Eng) correlate with poor outcome in human cancer. We have previously shown that shedding of membrane endoglin, and concomitant release of Sol-Eng is a late event in chemical mouse skin carcinogenesis associated with the development of undifferentiated spindle cell carcinomas (SpCCs). In this report, we show that mouse skin SpCCs exhibit a high expressio...