Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations. - Wikidata - wikimedia - TriplyDB

Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations.

Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations.

http://www.wikidata.org/entity/Q35443250

about

Hereditary haemorrhagic telangiectasia: a clinical and scientific review Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network.Endoglin and activin receptor-like-kinase 1 are co-expressed in the distal vessels of the lung: implications for two familial vascular dysplasias, HHT and PAH.Endoglin in liver fibrogenesis: Bridging basic science and clinical practice Spectral imaging reveals microvessel physiology and function from anastomoses to thromboses.Optimal management of hereditary hemorrhagic telangiectasia.An intron mutation in the ACVRL1 may be associated with a transcriptional regulation defect in a Chinese family with hereditary hemorrhagic telangiectasia.Update on the molecular genetics of vascular anomalies.A postal survey of hereditary hemorrhagic telangectasia in the northeast of England Hereditary Hemorrhagic Telangiectasia with Hepatic Vascular Malformations.5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia.An evaluation of the severity and progression of epistaxis in hereditary hemorrhagic telangiectasia 1 versus hereditary hemorrhagic telangiectasia 2.Genetic Variation in the Platelet Endothelial Aggregation Receptor 1 Gene Results in Endothelial Dysfunction.Technique modifications for septodermoplasty: an illustrative case.Oxidative stress contributes to endothelial dysfunction in mouse models of hereditary hemorrhagic telangiectasia.Pulmonary vascular manifestations of hereditary hemorrhagic telangiectasia (rendu-osler disease).SMAD4 mutations found in unselected HHT patients.Brain arteriovenous malformation multiplicity predicts the diagnosis of hereditary hemorrhagic telangiectasia: quantitative assessment Clinical features and mutations in the ENG, ACVRL1, and SMAD4 genes in Korean patients with hereditary hemorrhagic telangiectasia.A review of vascular anomalies: genetics and common syndromes.Screening for arteriovenous malformations in hereditary haemorrhagic telangiectasia.Evaluation of previously nonscreened hereditary hemorrhagic telangiectasia patients shows frequent liver involvement and early cardiac consequences.Signs and genetics of rare cancer syndromes with gastroenterological features.Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia.Plasma endoglin as a marker to predict cardiovascular events in patients with chronic coronary artery diseases.Long-term complications of septal dermoplasty in patients with hereditary hemorrhagic telangiectasia.Liver transplantation for hereditary hemorrhagic telangiectasia: Report of the European liver transplant registry.Executive summary of the 11th HHT international scientific conference.Epistaxis in children and adolescents with hereditary hemorrhagic telangiectasia.Clinical symptoms according to genotype amongst patients with hereditary haemorrhagic telangiectasia.Expression of endoglin and the activin receptor-like kinase 1 in skin suggests a role for these receptors in normal skin function and skin tumorigenesis.Living with hereditary haemorrhagic telangiectasia: coping and psychological distress - a cross-sectional study.Characterization of pulmonary arteriovenous malformations in ACVRL1 versus ENG mutation carriers in hereditary hemorrhagic telangiectasia.Screening for children from families with Rendu-Osler-Weber disease: from geneticist to clinician.An association of migraine with hereditary haemorrhagic telangiectasia independently of pulmonary right-to-left shunts.Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: gene-phenotype correlations.Mutations in the ENG, ACVRL1, and SMAD4 genes and clinical manifestations of hereditary haemorrhagic telangiectasia: experience from the Center for Osler's Disease, Uppsala University Hospital

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Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations.

http://www.wikidata.org/entity/Q35443250

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Endoglin is an accessory protein that interacts with the signaling receptor complex of multiple members of the transforming growth factor-beta superfamily

Extracellular and cytoplasmic domains of endoglin interact with the transforming growth factor-beta receptors I and II

Regulated expression on human macrophages of endoglin, an Arg-Gly-Asp-containing surface antigen

Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity

Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1

Identification of human activin and TGF beta type I receptors that form heteromeric kinase complexes with type II receptors

Endoglin is a component of the transforming growth factor-beta receptor system in human endothelial cells

The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2

Assignment of transforming growth factor beta1 and beta3 and a third new ligand to the type I receptor ALK-1

Endoglin overexpression modulates cellular morphology, migration, and adhesion of mouse fibroblasts

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