Mutation Analysis in Spanish Patients with Hereditary Hemorrhagic Telangiectasia: Deficient Endoglin Up-regulation in Activated Monocytes
Data up to Jan 2025
Total Citations Per Year
Abstract
References (42)
The Metabolic and Molecular Bases of Inherited Disease
1995 • 12,086 citations
Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)
2000 • 1,634 citations
Cytostatic and apoptotic actions of TGF-β in homeostasis and cancer
2003 • 1,572 citations
Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1
1994 • 1,452 citations
Mutations in the activin receptor–like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2
1996 • 1,089 citations
Balancing the activation state of the endothelium via two distinct TGF-beta type I receptors
2002 • 1,088 citations
Hereditary Hemorrhagic Telangiectasia
1995 • 1,052 citations
Endoglin is a component of the transforming growth factor-beta receptor system in human endothelial cells.
1992 • 837 citations
Activin receptor-like kinase 1 modulates transforming growth factor-β1 signaling in the regulation of angiogenesis
2000 • 823 citations
Activin Receptor-like Kinase (ALK)1 Is an Antagonistic Mediator of Lateral TGFβ/ALK5 Signaling
2003 • 657 citations
Age‐related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population
1989 • 567 citations
Smads as transcriptional co-modulators
2000 • 522 citations
Rare diseases bullet 4: Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms
1999 • 365 citations
Controlling the Angiogenic Switch
2003 • 329 citations
Endoglin Expression Is Regulated by Transcriptional Cooperation between the Hypoxia and Transforming Growth Factor-β Pathways
2002 • 320 citations
Endoglin modulates cellular responses to TGF-beta 1.
1996 • 306 citations
Ultrastructure and Three-Dimensional Organization of the Telangiectases of Hereditary Hemorrhagic Telangiectasia
1990 • 271 citations
Role of Endoglin in Cellular Responses to Transforming Growth Factor-β
1998 • 223 citations
Regulated expression on human macrophages of endoglin, an Arg‐Gly‐Asp‐containing surface antigen
1992 • 222 citations
Targets of transcriptional regulation by two distinct type I receptors for transforming growth factor‐β in human umbilical vein endothelial cells
2002 • 209 citations
Transcriptional activation of endoglin and transforming growth factor-β signaling components by cooperative interaction between Sp1 and KLF6: their potential role in the response to vascular injury
2002 • 173 citations
A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12.
1995 • 172 citations
CD105 prevents apoptosis in hypoxic endothelial cells
2003 • 170 citations
Characterization of Endoglin and Identification of Novel Mutations in Hereditary Hemorrhagic Telangiectasia
1997 • 166 citations
Hereditary Hemorrhagic Telangiectasia
1998 • 159 citations
Mutant endoglin in hereditary hemorrhagic telangiectasia type 1 is transiently expressed intracellularly and is not a dominant negative.
1997 • 154 citations
Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease): new insights in pathogenesis, complications, and treatment.
1996 • 154 citations
Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2
2000 • 132 citations
Endoglin Controls Cell Migration and Composition of Focal Adhesions
2004 • 123 citations
Expression Analysis of Four Endoglin Missense Mutations Suggests That Haploinsufficiency Is the Predominant Mechanism for Hereditary Hemorrhagic Telangiectasia Type 1
1999 • 117 citations
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Disease)
1996 • 112 citations
Cloning of the Promoter Region of Human Endoglin, the Target Gene for Hereditary Hemorrhagic Telangiectasia Type 1
1998 • 110 citations
Endoglin overexpression modulates cellular morphology, migration, and adhesion of mouse fibroblasts
1999 • 99 citations
Visceral manifestations in hereditary haemorrhagic telangiectasia type 2
2003 • 97 citations
Assignment of the human endoglin gene (END) to 9q34→qter
1993 • 95 citations
Identification of Hereditary Hemorrhagic Telangiectasia Type 1 in Newborns by Protein Expression and Mutation Analysis of Endoglin
2000 • 85 citations
Identification of a Critical Sp1 Site within the Endoglin Promoter and Its Involvement in the Transforming Growth Factor-β Stimulation
2001 • 76 citations
Mapping epitopes to distinct regions of the extracellular domain of endoglin using bacterially expressed recombinant fragments
1997 • 63 citations
Crush syndrome patients after the Marmara earthquake
2003 • 60 citations
Type I receptor serine-threonine kinase preferentially expressed in pulmonary blood vessels
1996 • 56 citations
Brain abscess in patients with hereditary hemorrhagic telangiectasia: Case report and literature review
2001 • 45 citations
[Weber-Rendu-Osler disease: pulmonary arterio-venous malformation with shunt disclosed after 5 occurrences of purulent meningococcal encephalitis].
1999 • 3 citations