(Q38948191)

English

Functional analysis of endoglin mutations from hereditary hemorrhagic telangiectasia type 1 patients reveals different mechanisms for endoglin loss of function.

scientific article published on 13 October 2014

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scholarly article

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Europe PubMed Central

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21 February 2020

Functional analysis of endoglin mutations from hereditary hemorrhagic telangiectasia type 1 patients reveals different mechanisms for endoglin loss of function (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25312062%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

hereditary hemorrhagic telangiectasia

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Sophie Dupuis-Girod

4

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21 February 2020

Jean-Jacques Feige

5

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21 February 2020

6

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21 February 2020

Emmanuelle Tillet

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21 February 2020

author name string

Christine Mallet

1

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21 February 2020

Khadija Lamribet

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21 February 2020

Sophie Giraud

3

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21 February 2020

publication date

13 October 2014

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21 February 2020

Human Molecular Genetics

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21 February 2020

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21 February 2020

4

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21 February 2020

1142-1154

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21 February 2020

Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU531

21 January 2018

Hereditary hemorrhagic telangiectasia: from molecular biology to patient care.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU531

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU531

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU531

21 January 2018

A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU531

21 January 2018

SMAD4 mutations found in unselected HHT patients.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU531

21 January 2018

Identification of BMP9 and BMP10 as functional activators of the orphan activin receptor-like kinase 1 (ALK1) in endothelial cells

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU531

21 January 2018

BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU531

21 January 2018

A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU531

21 January 2018

A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU531

21 January 2018

A hereditary haemorrhagic telangiectasia family with pulmonary involvement is unlinked to the known HHT genes, endoglin and ALK-1.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU531

21 January 2018

BMP-9 signals via ALK1 and inhibits bFGF-induced endothelial cell proliferation and VEGF-stimulated angiogenesis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU531

21 January 2018

Bone morphogenetic protein-9 is a circulating vascular quiescence factor

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU531

21 January 2018

Endoglin requirement for BMP9 signaling in endothelial cells reveals new mechanism of action for selective anti-endoglin antibodies

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU531

21 January 2018

Structural and functional insights into endoglin ligand recognition and binding.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU531

21 January 2018

Soluble endoglin specifically binds bone morphogenetic proteins 9 and 10 via its orphan domain, inhibits blood vessel formation, and suppresses tumor growth

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU531

21 January 2018

Interaction and functional interplay between endoglin and ALK-1, two components of the endothelial transforming growth factor-beta receptor complex

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU531

21 January 2018

Endoglin promotes endothelial cell proliferation and TGF-beta/ALK1 signal transduction

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU531

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU531

21 January 2018

Review: the enigmatic role of endoglin in the placenta

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU531

21 January 2018

Structural model of human endoglin, a transmembrane receptor responsible for hereditary hemorrhagic telangiectasia.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU531

21 January 2018

Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU531

21 January 2018

Analysis of several endoglin mutants reveals no endogenous mature or secreted protein capable of interfering with normal endoglin function

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU531

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU531

21 January 2018

Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU531

21 January 2018

Expression analysis of endoglin missense and truncation mutations: insights into protein structure and disease mechanisms.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU531

21 January 2018

Investigation of endoglin wild-type and missense mutant protein heterodimerisation using fluorescence microscopy based IF, BiFC and FRET analyses

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU531

21 January 2018

Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU531

21 January 2018

Functional analysis of the BMP9 response of ALK1 mutants from HHT2 patients: a diagnostic tool for novel ACVRL1 mutations

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU531

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU531

21 January 2018

The molecular basis of genetic dominance

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU531

21 January 2018

Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU531

21 January 2018

Update on molecular diagnosis of hereditary hemorrhagic telangiectasia

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU531

21 January 2018

Novel biochemical pathways of endoglin in vascular cell physiology.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU531

21 January 2018

Endoglin inhibits ERK-induced c-Myc and cyclin D1 expression to impede endothelial cell proliferation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU531

21 January 2018

Endoglin regulates the activation and quiescence of endothelium by participating in canonical and non-canonical TGF-β signaling pathways

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU531

21 January 2018

Endoglin regulates cytoskeletal organization through binding to ZRP-1, a member of the Lim family of proteins

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU531

21 January 2018

A novel ENG mutation causing impaired co-translational processing of endoglin associated with hereditary hemorrhagic telangiectasia.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU531

21 January 2018

Umbilical vein and placental vessels from newborns with hereditary haemorrhagic telangiectasia type 1 genotype are normal despite reduced expression of endoglin.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU531

21 January 2018

Identification and functional characterization of distinct critically important bone morphogenetic protein-specific response elements in the Id1 promoter

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU531

21 January 2018

Identifiers

10.1093/HMG/DDU531

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25312062%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25312062%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

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