Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 3 of 3 for “"EIF2AK4"”.
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Elucidating how mutations in EIF2AK4 cause pulmonary vascular disease
… mutations in the stress sensing kinase, EIF2AK4 (GCN2), are the main genetic cause of PVOD. I hypothesised that loss of GCN2 may lead to a pro-inflammatory phenotype which could be contributing to the development of PVOD. PVOD was modelled using mice with homozygous null mutations in …
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Phenotype – genotype associations in a large cohort of patients with pulmonary arterial hypertension
… variants in both SMAD9 and either BMPR2 or EIF2AK4. The clinical significance of this requires further study. Unexpectedly, biallelic variants in EIF2AK4 were identified in patients with a clinical diagnosis of idiopathic PAH. These patients had a significantly worse prognosis compared to …
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Deep forward and reverse phenotyping for genetic discovery in pulmonary arterial hypertension.
… a new candidate gene, COL6A5. While BMPR2, TBX4, EIF2AK4, ACVRL1 and AQP1 showed the highest association (PP≥0.99), I also confirmed significant associations in the majority of other previously identified genes. High impact variants in the KDR were associated with a significantly reduced KCO (KCO …