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

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1 reference

Guillermo Pousada

1

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Diana Valverde

object named as

Diana Valverde

5

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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

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29 July 2017

9

1 reference

29 July 2017

e100261

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29 July 2017

6

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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

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cites work

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

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

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

22 June 2018

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

22 June 2018

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

22 June 2018

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

22 June 2018

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

22 June 2018

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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

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

22 June 2018

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Genetics and genomics of pulmonary arterial hypertension

22 June 2018

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

22 June 2018

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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

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

22 June 2018

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

22 June 2018

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

22 June 2018

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

22 June 2018

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

22 June 2018

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

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

21 January 2018

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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

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

30 October 2018

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Estudio del gen BMPR2 en pacientes con hipertensión arterial pulmonar

21 January 2018

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

21 January 2018

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12 December 2020

Sequence-based prediction of pathological mutations

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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

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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

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12 December 2020

Relationship of BMPR2 mutations to vasoreactivity in pulmonary arterial hypertension

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12 December 2020

10.1371/JOURNAL.PONE.0100261

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DOI

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release_if2if6k6jvcgzh5qfij4yonz2u

29 July 2017

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

24 November 2022

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PMCID

4061078

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29 July 2017

1 reference