(Q47253821)

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Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

scientific article published on 28 September 2017

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Europe PubMed Central

12 January 2018

http://europepmc.org/abstract/MED/28972005

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension (English)

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Europe PubMed Central

12 January 2018

http://europepmc.org/abstract/MED/28972005

Peter Dorfmuller

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Laura Southgate

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Stephen D Preston

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Matthias Haimel

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Joanna Pepke-Zaba

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Stefan Gräf

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Kathleen Freson

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Anton Vonk-Noordegraaf

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Barbara Girerd

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NIHR BioResource–Rare Diseases Consortium; UK National Cohort Study of Idiopathic and Heritable PAH

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28 September 2017

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2022-2033

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Clinical phenotypes and outcomes of heritable and sporadic pulmonary veno-occlusive disease: a population-based study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5700414

29 September 2018

EIF2AK4 Mutations in Patients Diagnosed With Pulmonary Arterial Hypertension.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5700414

29 September 2018

BMPR2 mutation status influences bronchial vascular changes in pulmonary arterial hypertension.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5700414

29 September 2018

EIF2AK4 mutation as "second hit" in hereditary pulmonary arterial hypertension

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5700414

29 September 2018

Analysis of protein-coding genetic variation in 60,706 humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5700414

29 September 2018

The Ensembl Variant Effect Predictor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5700414

29 September 2018

Pulmonary veno-occlusive disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5700414

29 September 2018

BMPR2 mutations and survival in pulmonary arterial hypertension: an individual participant data meta-analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5700414

29 September 2018

Occupational exposure to organic solvents: a risk factor for pulmonary veno-occlusive disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5700414

29 September 2018

Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5700414

29 September 2018

CT features of pulmonary arterial hypertension and its major subtypes: a systematic CT evaluation of 292 patients from the ASPIRE Registry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5700414

29 September 2018

A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5700414

29 September 2018

PRIMUS: rapid reconstruction of pedigrees from genome-wide estimates of identity by descent.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5700414

29 September 2018

Characteristics of patients with pulmonary venoocclusive disease awaiting transplantation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5700414

29 September 2018

A general framework for estimating the relative pathogenicity of human genetic variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5700414

29 September 2018

Updated Clinical Classification of Pulmonary Hypertension

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5700414

29 September 2018

EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5700414

29 September 2018

EIF2AK4 mutations in pulmonary capillary hemangiomatosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5700414

29 September 2018

Diffusion capacity and BMPR2 mutations in pulmonary arterial hypertension

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5700414

29 September 2018

Severely reduced diffusion capacity in idiopathic pulmonary arterial hypertension: patient characteristics and treatment responses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5700414

29 September 2018

A method and server for predicting damaging missense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5700414

29 September 2018

Pulmonary veno-occlusive disease: clinical, functional, radiologic, and hemodynamic characteristics and outcome of 24 cases confirmed by histology.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5700414

29 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5700414

29 September 2018

Pathologic assessment of vasculopathies in pulmonary hypertension

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5700414

29 September 2018

An integrated stress response regulates amino acid metabolism and resistance to oxidative stress

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5700414

29 September 2018

Pulmonary veno-occlusive disease caused by an inherited mutation in bone morphogenetic protein receptor II.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5700414

29 September 2018

Predicting deleterious amino acid substitutions

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29 September 2018

Pulmonary Veno-occlusive Disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5700414

29 September 2018

Alveolo-capillary membrane in primary pulmonary hypertension.

1 reference

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29 September 2018

Phosphorylation of initiation factor 2 alpha by protein kinase GCN2 mediates gene-specific translational control of GCN4 in yeast

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29 September 2018

2015 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5700414

1 December 2018

BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertension

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5700414

1 December 2018

Massive pulmonary edema and death after prostacyclin infusion in a patient with pulmonary veno-occlusive disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/28972005

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fibrous remodeling of the pulmonary venous system in pulmonary arterial hypertension associated with connective tissue diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/28972005

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pulmonary Hypertension:CT of the Chest in Pulmonary Venoocclusive Disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/28972005

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Histopathology of primary pulmonary hypertension. A qualitative and quantitative study of pulmonary blood vessels from 58 patients in the National Heart, Lung, and Blood Institute, Primary Pulmonary Hypertension Registry

1 reference

https://pubmed.ncbi.nlm.nih.gov/28972005

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis: a clinicopathologic study of 35 cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/28972005

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1161/CIRCULATIONAHA.117.028351

1 reference

Europe PubMed Central

12 January 2018

http://europepmc.org/abstract/MED/28972005

0 references

1 reference

Europe PubMed Central

12 January 2018

http://europepmc.org/abstract/MED/28972005

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