(Q28116278)

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26176610%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

title

Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia (English)

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26176610%20AND%20SRC:MED&resulttype=core&format=json

hereditary hemorrhagic telangiectasia

19 February 2020

main subject

0 references

Activin A receptor like type 1

1 reference

GOA release 2020-03-11

BMP receptor activity

1 reference

GOA release 2020-03-11

author

Eva Hamade

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26176610%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Sabine Bailly

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26176610%20AND%20SRC:MED&resulttype=core&format=json

Brigitte Gilbert-Dussardier

19 February 2020

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26176610%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

author name string

Ferdos Alaa El Din

1

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26176610%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Sylvie Patri

2

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26176610%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Vincent Thoreau

3

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26176610%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Montserrat Rodriguez-Ballesteros

4

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26176610%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Raghida Abou Merhi

8

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26176610%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Alain Kitzis

9

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26176610%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

language of work or name

English

0 references

publication date

15 July 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26176610%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26176610%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

volume

10

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26176610%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

issue

7

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26176610%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

page(s)

e0132111

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26176610%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

19 February 2020

copyright license

start time

15 July 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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1 reference

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Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia

20 March 2017

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20 March 2017

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

20 March 2017

1 reference

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

20 March 2017

1 reference

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

20 March 2017

1 reference

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

20 March 2017

1 reference

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Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution.

20 March 2017

1 reference

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Hereditary haemorrhagic telangiectasia: a clinical and scientific review

20 March 2017

1 reference

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

20 March 2017

1 reference

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Bone morphogenetic protein-9 is a circulating vascular quiescence factor

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4503601

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4503601

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4503601

Mechanisms of TGF-beta signaling from cell membrane to the nucleus

20 March 2017

1 reference

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Smad-dependent and Smad-independent pathways in TGF-beta family signalling

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4503601

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4503601

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4503601

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4503601

Regulation of alternative splicing in vivo by overexpression of antagonistic splicing factors

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4503601

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4503601

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4503601

Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4503601

Endoglin in angiogenesis and vascular diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4503601

Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4503601

Pre-mRNA missplicing as a cause of human disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4503601

Transforming growth factor-betas and vascular disorders

29 September 2017

1 reference

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Hereditary hemorrhagic telangiectasia, a vascular dysplasia affecting the TGF-beta signaling pathway

29 September 2017

1 reference

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

29 September 2017

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29 September 2017

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29 September 2017

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Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia. Mutations in brief no. 164. Online

29 September 2017

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Hereditary haemorrhagic telangiectasia: a population-based study of prevalence and mortality in Danish patients

29 September 2017

1 reference

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Smad1 recognition and activation by the ALK1 group of transforming growth factor-beta family receptors

29 September 2017

1 reference

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4503601

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4503601

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4503601

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4503601

Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.

2 June 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0132111

Role for DNA homology in site-specific recombination. The isolation and characterization of a site affinity mutant of coliphage lambda

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0132111

Functional analysis of mutations in the kinase domain of the TGF-beta receptor ALK1 reveals different mechanisms for induction of hereditary hemorrhagic telangiectasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0132111

Transforming Growth Factor {beta} Can Stimulate Smad1 Phosphorylation Independently of Bone Morphogenic Protein Receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0132111

Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0132111

Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4503601

Hereditary hemorrhagic telangiectasia

27 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/26176610

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/26176610

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0132111

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26176610%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26176610%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26176610%20AND%20SRC:MED&resulttype=core&format=json