(Q37374995)

20 August 2017

Mutant endoglin in hereditary hemorrhagic telangiectasia type 1 is transiently expressed intracellularly and is not a dominant negative (English)

1 reference

hereditary hemorrhagic telangiectasia

20 August 2017

0 references

author name string

N Pece

1

1 reference

20 August 2017

S Vera

2

1 reference

20 August 2017

U Cymerman

3

1 reference

20 August 2017

R I White

4

1 reference

20 August 2017

J L Wrana

5

1 reference

20 August 2017

M Letarte

6

1 reference

20 August 2017

language of work or name

English

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publication date

1 November 1997

1 reference

Journal of Clinical Investigation

20 August 2017

1 reference

20 August 2017

100

1 reference

20 August 2017

2568-2579

1 reference

20 August 2017

10

1 reference

MADR2 is a substrate of the TGFbeta receptor and its phosphorylation is required for nuclear accumulation and signaling

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508458

Hereditary haemorrhagic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508458

MADR2 maps to 18q21 and encodes a TGFbeta-regulated MAD-related protein that is functionally mutated in colorectal carcinoma

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508458

Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508458

A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508458

Endoglin modulates cellular responses to TGF-beta 1.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508458

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508458

Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508458

Activation of signalling by the activin receptor complex

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508458

Assignment of the human endoglin gene (END) to 9q34-->qter

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508458

Identification and expression of two forms of the human transforming growth factor-beta-binding protein endoglin with distinct cytoplasmic regions

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508458

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508458

Molecular characterization and in situ localization of murine endoglin reveal that it is a transforming growth factor-beta binding protein of endothelial and stromal cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508458

Characterization of type I receptors for transforming growth factor-beta and activin

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508458

Mechanism of activation of the TGF-beta receptor

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508458

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508458

Linkage of hereditary haemorrhagic telangiectasia to chromosome 9q34 and evidence for locus heterogeneity

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508458

Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508458

Genetic heterogeneity in hereditary haemorrhagic telangiectasia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508458

Defective haematopoiesis and vasculogenesis in transforming growth factor-beta 1 knock out mice

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508458

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508458

Biochemical characterization of the 44G4 antigen from the HOON pre-B leukemic cell line

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508458

Regulation of endothelial cell growth, architecture, and matrix synthesis by TGF-beta

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508458

Inhibitory action of transforming growth factor beta on endothelial cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508458

Endothelial cell regulation by transforming growth factor-beta

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508458

Primary structure of endoglin, an RGD-containing glycoprotein of human endothelial cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508458

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508458

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508458

Medical complications of pregnancy in hereditary haemorrhagic telangiectasia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508458

Endoglin is a component of the transforming growth factor (TGF)-beta receptor complex of human pre-B leukemic cells.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508458

Blood vessel formation: what is its molecular basis?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508458

Mapping epitopes to distinct regions of the extracellular domain of endoglin using bacterially expressed recombinant fragments

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508458

Nomenclature: vertebrate mediators of TGFbeta family signals.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508458

Betaglycan presents ligand to the TGF beta signaling receptor.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508458

Comparison of the biological actions of TGF beta-1 and TGF beta-2: differential activity in endothelial cells

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508458

Distinct transforming growth factor-beta (TGF-beta) receptor subsets as determinants of cellular responsiveness to three TGF-beta isoforms.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508458

Vascular malformations of the brain in hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease).

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508458

Pial arteriovenous fistula in children as presenting manifestation of Rendu-Osler-Weber disease

2 September 2018

1 reference

12 December 2020

A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q

1 reference

12 December 2020

Hereditary hemorrhagic telangiectasia

1 reference

12 December 2020

Inhibition of vascular endothelial cell growth by activin-A

1 reference

12 December 2020

A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34

1 reference

12 December 2020

Identification of several cell surface proteins of non-T, non-B acute lymphoblastic leukemia by using monoclonal antibodies

1 reference

12 December 2020

A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3

1 reference

12 December 2020

Identification of a human endothelial cell antigen with monoclonal antibody 44G4 produced against a pre-B leukemic cell line

1 reference

12 December 2020

Molecular defects in rare bleeding disorders: hereditary haemorrhagic telangiectasia

1 reference

12 December 2020

Ultrastructure and three-dimensional organization of the telangiectases of hereditary hemorrhagic telangiectasia

1 reference

12 December 2020

Identification of receptors for type-beta transforming growth factor

1 reference

12 December 2020

The TGF-beta family and its composite receptors

1 reference

12 December 2020

Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function

1 reference

12 December 2020

Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 7-1997. A 14-year-old girl with recurrent painless rectal bleeding

1 reference

12 December 2020

1 reference

12 December 2020

A novel missense mutation in the endoglin gene in hereditary hemorrhagic telangiectasia

1 reference

12 December 2020

Up-regulation of endoglin on vascular endothelial cells in human solid tumors: implications for diagnosis and therapy

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI119800

1 reference

20 August 2017

1 reference

20 August 2017

1 reference