Associated Papers
Functional validation of EIF2AK4 (GCN2) missense variants associated with pulmonary arterial hypertension.
Emanuelli G et al.
Human Molecular Genetics, 2024
Pulmonary veno-occlusive disease in Sjogren's syndrome: a case report.
Zeng X et al.
Bmc Pulmonary Medicine, 2023
Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry.
Cruz-Utrilla A et al.
International Journal of Molecular Sciences, 2022
36142358 (PubMed )
Supplement: ijms-23-10433-s001.zip › Table_S1.pdf
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S12.xls › Sheet1
Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension.
Castaño JAT et al.
Genes, 2020
Rapid disease progress in a PVOD patient carrying a novel EIF2AK4 mutation: a case report.
Zeng X et al.
Bmc Pulmonary Medicine, 2020
Variable Expressivity of a Founder Mutation in the EIF2AK4 Gene in Hereditary Pulmonary Veno-occlusive Disease and Its Impact on Survival.
Navas Tejedor P et al.
Revista Espanola De Cardiologia (english Ed.), 2018
A systematic review of genetic mutations in pulmonary arterial hypertension.
Garcia-Rivas G et al.
Bmc Medical Genetics, 2017
28768485 (PubMed )
Supplement: 12881_2017_440_MOESM1_ESM.xlsx › table-mutations-per-gene
EIF2AK4 mutation as "second hit" in hereditary pulmonary arterial hypertension.
Eichstaedt CA et al.
Respiratory Research, 2016
Founder mutation C.3344C>t(p.Pro1115Leu) in the EIF2KA4 gene in iberian romani patients with pulmonary veno-occlusive disease: A warning for our daily practice.
Navas P et al.
Archivos De Bronconeumologia, 2016
A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies.
Tenorio J et al.
Clinical Genetics, 2015
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Machado RD et al.
Human Mutation, 2015
A Semiconductor Chip-Based Next Generation Sequencing Procedure for the Main Pulmonary Hypertension Genes.
Gómez J et al.
Lung, 2015
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