Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia (Q24302138)

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

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scholarly article

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16 November 2019

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

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16 November 2019

arterial hypertension

1 reference

based on heuristic

inferred from title

Activin A receptor like type 1

1 reference

GOA release 2020-03-11

regulation of blood pressure

1 reference

GOA release 2020-03-11

pulmonary hypertension

1 reference

based on heuristic

inferred from title

6

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16 November 2019

Horst Olschewski

9

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16 November 2019

Nicholas W Morrell

16

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16 November 2019

Richard C Trembath

17

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16 November 2019

author name string

R E Harrison

1

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16 November 2019

J A Flanagan

2

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16 November 2019

M Sankelo

3

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16 November 2019

S A Abdalla

4

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16 November 2019

J Rowell

5

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16 November 2019

C G Elliott

7

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16 November 2019

I M Robbins

8

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16 November 2019

V McLaughlin

10

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16 November 2019

E Gruenig

11

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16 November 2019

F Kermeen

12

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16 November 2019

M Halme

13

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16 November 2019

A Räisänen-Sokolowski

14

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16 November 2019

T Laitinen

15

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16 November 2019

language of work or name

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publication date

1 December 2003

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16 November 2019

Journal of Medical Genetics

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16 November 2019

40

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16 November 2019

12

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16 November 2019

865-871

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16 November 2019

Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2

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19 March 2017

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

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19 March 2017

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

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Endoglin is an accessory protein that interacts with the signaling receptor complex of multiple members of the transforming growth factor-beta superfamily

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19 March 2017

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

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19 March 2017

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

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19 March 2017

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

1 reference

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19 March 2017

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

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19 March 2017

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

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19 March 2017

Visceral manifestations in hereditary haemorrhagic telangiectasia type 2

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27 September 2017

Hereditary hemorrhagic telangiectasia: an update on transforming growth factor beta signaling in vasculogenesis and angiogenesis

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27 September 2017

Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression

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27 September 2017

Genetics of primary pulmonary hypertension

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

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27 September 2017

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

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27 September 2017

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

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27 September 2017

Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family

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

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

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

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

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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

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

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Pulmonary hypertension in patients with pulmonary arteriovenous fistulae

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Hereditary haemorrhagic telangiectasia: a clinical analysis

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

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Mutation analysis of a family with hereditary hemorrhagic telangiectasia associated with hepatic arteriovenous malformation.

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Familial primary pulmonary hypertension: clinical patterns

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12 December 2020

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10.1136/JMG.40.12.865

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16 November 2019

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OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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16 November 2019

2 references

Consolidated OpenCitations Corpus – April 2017

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