(Q44407006)

2 December 2017

title

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

1 reference

2 December 2017

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5200919

25 December 2023

author name string

Urszula Cymerman

2

1 reference

2 December 2017

Michelle Letarte

5

1 reference

2 December 2017

Salma A. Abdalla

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12700602

25 December 2023

Rachel M. Johnson

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12700602

25 December 2023

Charles M. Deber

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12700602

25 December 2023

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=12700602

25 December 2023

publication date

1 April 2003

1 reference

full work available at URL

2 December 2017

https://www.nature.com/articles/5200919.pdf

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12700602

http://www.nature.com/articles/5200919.pdf

25 December 2023

file format

Portable Document Format

1 reference

DOI

https://api.crossref.org/works/10.1038/SJ.EJHG.5200919

http://www.nature.com/articles/5200919

25 December 2023

1 reference

DOI

https://api.crossref.org/works/10.1038/SJ.EJHG.5200919

European Journal of Human Genetics

25 December 2023

published in

1 reference

2 December 2017

volume

11

1 reference

2 December 2017

issue

4

1 reference

2 December 2017

page(s)

279-287

1 reference

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

2 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200919

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

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200919

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200919

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/10.1038%2FSJ.EJHG.5200919

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/10.1038%2FSJ.EJHG.5200919

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200919

The protein kinase family: conserved features and deduced phylogeny of the catalytic domains

21 January 2018

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The TGF-beta superfamily: new members, new receptors, and new genetic tests of function in different organisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200919

Crystal structure of the cytoplasmic domain of the type I TGF beta receptor in complex with FKBP12

21 January 2018

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

21 January 2018

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Geno3D: automatic comparative molecular modelling of protein.

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200919

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

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200919

Protein kinase catalytic domain sequence database: identification of conserved features of primary structure and classification of family members

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200919

Transforming growth factor beta receptor signaling and endocytosis are linked through a COOH terminal activation motif in the type I receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200919

TGF-beta induces fibronectin synthesis through a c-Jun N-terminal kinase-dependent, Smad4-independent pathway

21 January 2018

1 reference

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Quality control of mRNA function

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200919

Assignment of transforming growth factor beta1 and beta3 and a third new ligand to the type I receptor ALK-1

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200919

Identification of a functional site on the type I TGF-beta receptor by mutational analysis of its ectodomain

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

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Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene

21 January 2018

1 reference

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Mutation in the gene for bone morphogenetic protein receptor II as a cause of primary pulmonary hypertension in a large kindred

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200919

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

21 January 2018

1 reference

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7 January 2021

The TGF beta receptor activation process: an inhibitor- to substrate-binding switch

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200919

7 January 2021

The eukaryotic protein kinase superfamily: kinase (catalytic) domain structure and classification 1

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200919

7 January 2021

Interdependent SMAD and JNK signaling in transforming growth factor-beta-mediated transcription

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200919

7 January 2021

Identifiers

DOI

1 reference

2 December 2017

1 reference