Functional validation of EIF2AK4 (GCN2) missense variants associated with pulmonary arterial hypertension.

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作者： Giulia,Emanuelli ^[1] ; JiaYi,Zhu ^[1] ; Wei,Li ^[2] ; Nicholas W,Morrell ^[3] ; Stefan J,Marciniak ^[4]

作者单位： Cambridge Institute for Medical Research (CIMR), University of Cambridge, Keith Peters Building, Biomedical Campus, Hills Rd, Cambridge CB2 0XY, United Kingdom. ^[1] Victor Phillip Dahdaleh Heart and Lung Research Institute, University of Cambridge, Papworth Road, Trumpington, Cambridge CB2 0BB, United Kingdom.;Department of Medicine, University of Cambridge, Addenbrooke's Hospital (Box 157), Hills Road, Cambridge CB2 2QQ, United Kingdom. ^[2] Victor Phillip Dahdaleh Heart and Lung Research Institute, University of Cambridge, Papworth Road, Trumpington, Cambridge CB2 0BB, United Kingdom.;Department of Medicine, University of Cambridge, Addenbrooke's Hospital (Box 157), Hills Road, Cambridge CB2 2QQ, United Kingdom.;Royal Papworth Hospital NHS Foundation Trust, Papworth Rd, Trumpington, Cambridge CB2 0AY, United Kingdom. ^[3] Cambridge Institute for Medical Research (CIMR), University of Cambridge, Keith Peters Building, Biomedical Campus, Hills Rd, Cambridge CB2 0XY, United Kingdom.;Department of Medicine, University of Cambridge, Addenbrooke's Hospital (Box 157), Hills Road, Cambridge CB2 2QQ, United Kingdom.;Royal Papworth Hospital NHS Foundation Trust, Papworth Rd, Trumpington, Cambridge CB2 0AY, United Kingdom. ^[4]

关键词 EIF2AK4 GCN2 PVOD missense variants pulmonary hypertension

主题词人类(Humans);突变, 误义(Mutation, Missense);疾病遗传易感性(Genetic Predisposition to Disease);高血压, 肺性(Hypertension, Pulmonary);计算生物学(Computational Biology)

DOI 10.1093/hmg/ddae082

PMID 38776952

发布时间 2024-11-12

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