Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France (Q44801721)

6 December 2017

title

Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France (English)

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hereditary hemorrhagic telangiectasia

6 December 2017

main subject

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10

Marie-France Carette

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6 December 2017

15

Sophie Giraud

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6 December 2017

Gaëtan Lesca

1

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6 December 2017

Henri Plauchu

2

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6 December 2017

Florence Coulet

3

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6 December 2017

Sylvain Lefebvre

4

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6 December 2017

Ghislaine Plessis

5

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6 December 2017

Sylvie Odent

6

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6 December 2017

Sophie Rivière

7

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6 December 2017

Bruno Leheup

8

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6 December 2017

Cyril Goizet

9

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6 December 2017

Jean-François Cordier

11

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6 December 2017

Stéphane Pinson

12

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6 December 2017

Florent Soubrier

13

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6 December 2017

Alain Calender

14

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6 December 2017

French Rendu-Osler Network

16

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6 December 2017

publication date

1 April 2004

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6 December 2017

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6 December 2017

volume

23

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6 December 2017

issue

4

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6 December 2017

page(s)

289-299

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Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2.

6 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20017

Disease-associated mutations in conserved residues of ALK-1 kinase domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20017

Endoglin, an ancillary TGFbeta receptor, is required for extraembryonic angiogenesis and plays a key role in heart development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20017

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20017

Endoglin-deficient mice, a unique model to study hereditary hemorrhagic telangiectasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20017

Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20017

Mutational analysis of activin/transforming growth factor-beta type I and type II receptor kinases in human pituitary tumors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20017

Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20017

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20017

Sequence variation and disease in the wake of the draft human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20017

Balancing the activation state of the endothelium via two distinct TGF-beta type I receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20017

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20017

Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20017

Activin receptor-like kinase 1 is implicated in the maturation phase of angiogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20017

Endoglin gene mutations and polymorphisms in Italian patients with hereditary haemorrhagic telangiectasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20017

Defective angiogenesis in mice lacking endoglin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20017

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20017

TGF-beta signal transduction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20017

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20017

Clinical manifestations in a large hereditary hemorrhagic telangiectasia (HHT) type 2 kindred

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20017

Activin receptor-like kinase 1 modulates transforming growth factor-beta 1 signaling in the regulation of angiogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20017

Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20017

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20017

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20017

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20017

A mouse model for hereditary hemorrhagic telangiectasia (HHT) type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20017

Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20017

Arteriovenous malformations in mice lacking activin receptor-like kinase-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20017

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20017

Endoglin gene polymorphism as a risk factor for sporadic intracerebral hemorrhage

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20017

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20017

7 January 2021

A murine model of hereditary hemorrhagic telangiectasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20017

7 January 2021

Endoglin expression is reduced in normal vessels but still detectable in arteriovenous malformations of patients with hereditary hemorrhagic telangiectasia type 1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20017

7 January 2021

Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20017

7 January 2021

Identification of a polymorphism (D366H) in the endoglin gene in Chinese

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20017

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20017

7 January 2021

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/10.1002%2FHUMU.20017

7 January 2021

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20017

7 January 2021

Hereditary haemorrhagic telangiectasia: a clinical analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20017

7 January 2021

Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20017

7 January 2021

Gastrointestinal lesions in hereditary hemorrhagic telangiectasia

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https://api.crossref.org/works/10.1002%2FHUMU.20017

7 January 2021

Identifiers

DOI

10.1002/HUMU.20017

1 reference

release_e2qro5sznbgqbh5iufjvnmndpe

6 December 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/e2qro5sznbgqbh5iufjvnmndpe

24 November 2022

mapped directly with Wikidata item

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