(Q34043809)

30 July 2017

BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension (English)

1 reference

30 July 2017

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R D Machado

1

1 reference

30 July 2017

M W Pauciulo

2

1 reference

30 July 2017

J R Thomson

3

1 reference

30 July 2017

K B Lane

4

1 reference

30 July 2017

N V Morgan

5

1 reference

30 July 2017

L Wheeler

6

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30 July 2017

J A Phillips

7

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30 July 2017

J Newman

8

1 reference

30 July 2017

D Williams

9

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30 July 2017

N Galiè

10

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30 July 2017

A Manes

11

1 reference

30 July 2017

K McNeil

12

1 reference

30 July 2017

M Yacoub

13

1 reference

30 July 2017

G Mikhail

14

1 reference

30 July 2017

P Rogers

15

1 reference

30 July 2017

P Corris

16

1 reference

30 July 2017

M Humbert

17

1 reference

30 July 2017

D Donnai

18

1 reference

30 July 2017

G Martensson

19

1 reference

30 July 2017

L Tranebjaerg

20

1 reference

30 July 2017

J E Loyd

21

1 reference

30 July 2017

R C Trembath

22

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30 July 2017

W C Nichols

23

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30 July 2017

language of work or name

English

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publication date

12 December 2000

1 reference

American Journal of Human Genetics

30 July 2017

1 reference

30 July 2017

68

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30 July 2017

1

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30 July 2017

92-102

1 reference

Primary pulmonary hypertension: the pressure rises for a gene.

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234937

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234937

A physical and transcript map based upon refinement of the critical interval for PPH1, a gene for familial primary pulmonary hypertension. The International PPH Consortium

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234937

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234937

Controlling TGF-beta signaling

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234937

TGF-(beta) type I receptor/ALK-5 and Smad proteins mediate epithelial to mesenchymal transdifferentiation in NMuMG breast epithelial cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234937

High frequency of large intragenic deletions in the Fanconi anemia group A gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234937

Genetic abnormalities in hereditary hemorrhagic telangiectasia.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234937

Identification and functional characterization of a Smad binding element (SBE) in the JunB promoter that acts as a transforming growth factor-beta, activin, and bone morphogenetic protein-inducible enhancer.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234937

Human immunodeficiency virus infection and pulmonary hypertension: two new cases and a review of 86 reported cases

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234937

Appetite-suppressant drugs and the risk of primary pulmonary hypertension. International Primary Pulmonary Hypertension Study Group

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234937

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234937

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234937

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234937

Human type II receptor for bone morphogenic proteins (BMPs): extension of the two-kinase receptor model to the BMPs

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234937

When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234937

Primary pulmonary hypertension. A national prospective study

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234937

The effect of high doses of calcium-channel blockers on survival in primary pulmonary hypertension

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234937

Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234937

Reduction in pulmonary vascular resistance with long-term epoprostenol (prostacyclin) therapy in primary pulmonary hypertension.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234937

Fine mapping of PPH1, a gene for familial primary pulmonary hypertension, to a 3-cM region on chromosome 2q33

28 October 2018

1 reference

12 December 2020

Clinical and pathologic manifestations of pulmonary vascular disease in the toxic oil syndrome

1 reference

12 December 2020

Genetic anticipation and abnormal gender ratio at birth in familial primary pulmonary hypertension

1 reference

12 December 2020

Primary pulmonary hypertension

1 reference

12 December 2020

Localization of the gene for familial primary pulmonary hypertension to chromosome 2q31–32

1 reference

12 December 2020

Mapping of familial primary pulmonary hypertension locus (PPH1) to chromosome 2q31-q32

1 reference

12 December 2020

Primary pulmonary hypertension

1 reference

12 December 2020

Identifiers

DOI

10.1086/316947

1 reference

30 July 2017

1 reference

30 July 2017

1 reference