(Q33769113)

29 July 2017

Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension (English)

1 reference

29 July 2017

arterial hypertension

0 references

1 reference

Guillermo Pousada

1

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Diana Valverde

object named as

Diana Valverde

5

0 references

author name string

Adolfo Baloira

2

1 reference

29 July 2017

Carlos Vilariño

3

1 reference

29 July 2017

Jose Manuel Cifrian

4

1 reference

29 July 2017

language of work or name

English

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publication date

17 June 2014

1 reference

29 July 2017

1 reference

29 July 2017

9

1 reference

29 July 2017

6

1 reference

29 July 2017

e100261

1 reference

Creative Commons Attribution 4.0 International

29 July 2017

start time

17 June 2014

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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Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension.

22 June 2018

1 reference

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Genetic variation in KCNA5: impact on the atrial-specific potassium current IKur in patients with lone atrial fibrillation

22 June 2018

1 reference

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The genetics of pulmonary arterial hypertension in the post-BMPR2 era.

22 June 2018

1 reference

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Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations.

22 June 2018

1 reference

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Physiologic and molecular consequences of endothelial Bmpr2 mutation

22 June 2018

1 reference

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Pulmonary arterial hypertension in women.

22 June 2018

1 reference

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Genetics of pulmonary arterial hypertension: do the molecular findings have translational value?

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4061078

Novel KCNA5 mutation implicates tyrosine kinase signaling in human atrial fibrillation

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4061078

Silent mutations in sight: co-variations in tRNA abundance as a key to unravel consequences of silent mutations.

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4061078

Characterization of the human Activin-A receptor type II-like kinase 1 (ACVRL1) promoter and its regulation by Sp1

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4061078

Patho-, physiological roles of voltage-dependent K+ channels in pulmonary arterial smooth muscle cells

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4061078

Absence of influence of gender and BMPR2 mutation type on clinical phenotypes of pulmonary arterial hypertension.

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4061078

Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4061078

Tetramerization domain mutations in KCNA5 affect channel kinetics and cause abnormal trafficking patterns

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4061078

Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertension

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4061078

Guidelines for the diagnosis and treatment of pulmonary hypertension: the Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS), endorsed by the In

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4061078

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4061078

Genetics and genomics of pulmonary arterial hypertension

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4061078

Copy-number variation in BMPR2 is not associated with the pathogenesis of pulmonary arterial hypertension

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4061078

Bone morphogenetic protein (BMP) and activin type II receptors balance BMP9 signals mediated by activin receptor-like kinase-1 in human pulmonary artery endothelial cells

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4061078

Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4061078

Molecular mechanisms of pulmonary arterial hypertension: role of mutations in the bone morphogenetic protein type II receptor

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4061078

Potassium channels in the regulation of pulmonary artery smooth muscle cell proliferation and apoptosis: pharmacotherapeutic implications

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4061078

Amino-terminal determinants of U-type inactivation of voltage-gated K+ channels

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4061078

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

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4061078

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

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4061078

An epidemiological study of pulmonary arterial hypertension.

22 June 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0100261

Pathogenicity evaluation of BRCA1 and BRCA2 unclassified variants identified in Portuguese breast/ovarian cancer families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0100261

Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0100261

Implications of mutations of activin receptor-like kinase 1 gene (ALK1) in addition to bone morphogenetic protein receptor II gene (BMPR2) in children with pulmonary arterial hypertension

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0100261

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0100261

High frequency of ENG and ALK1/ACVRL1 mutations in German HHT patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0100261

Function of Kv1.5 channels and genetic variations of KCNA5 in patients with idiopathic pulmonary arterial hypertension

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0100261

BMPR2 mutations influence phenotype more obviously in male patients with pulmonary arterial hypertension

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0100261

[Study of the BMPR2 gene in patients with pulmonary arterial hypertension].

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4061078

Association of a KCNA5 gene polymorphism with systemic sclerosis-associated pulmonary arterial hypertension in the European Caucasian population

30 October 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0100261

Estudio del gen BMPR2 en pacientes con hipertensión arterial pulmonar

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0100261

Missense mutations of the BMPR1B (ALK6) gene in childhood idiopathic pulmonary arterial hypertension

21 January 2018

1 reference

12 December 2020

Sequence-based prediction of pathological mutations

1 reference

12 December 2020

Sequence variants in BMPR2 and genes involved in the serotonin and nitric oxide pathways in idiopathic pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension: relation to clinical parameters and comparison with left heart

1 reference

12 December 2020

Mutations of activin-receptor-like kinase 1 (ALK-1) are not found in patients with pulmonary hypertension and underlying connective tissue disease

1 reference

12 December 2020

Relationship of BMPR2 mutations to vasoreactivity in pulmonary arterial hypertension

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0100261

Identifiers

DOI

1 reference

release_if2if6k6jvcgzh5qfij4yonz2u

29 July 2017

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1 reference

Fatcat

https://api.fatcat.wiki/v0/release/if2if6k6jvcgzh5qfij4yonz2u

24 November 2022

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PMCID

4061078

1 reference

29 July 2017

1 reference