Back to search

Mutation Analysis in Spanish Patients with Hereditary Hemorrhagic Telangiectasia: Deficient Endoglin Up-regulation in Activated Monocytes

Data up to Jan 2025

Published2004
Citations46
References42

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

Cited By (0)

Loading...
Mutation Analysis in Spanish Patients with Hereditary Hemorrhagic Telangiectasia:… (2004) – Clinical Chemistry | Metascience Observatory Explorer