ArticleAnnals of translational medicine2021
Integrative identification of the pathogenic role of a novel G6PD missense mutation c.697G>C.
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Article in Annals of translational medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2citing papers in PubMed
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Who cites it
2 citing papers in PubMed.
- Precise correction of G6PD Viangchan mutation in iPSCs by prime editing strategy.Scientific reports · 2025Article
- Screening for Active Compounds Targeting Human Natural Killer Cell Activation Identifying Daphnetin as an Enhancer for IFN-γ Production and Direct Cytotoxicity.Frontiers in immunology · 2021Article
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Authors and funding
16 authors.
Hongyang ZhangCenter of Clinical Molecular Medicine & Newborn Screening Center, Ministry of Education Key Laboratory of Child Development and Disorders; National Clinical Research Center for Child Health and Disorders (Chongqing), China International Science and Technology Cooperation base of Child development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
Danyi PengCenter of Clinical Molecular Medicine & Newborn Screening Center, Ministry of Education Key Laboratory of Child Development and Disorders; National Clinical Research Center for Child Health and Disorders (Chongqing), China International Science and Technology Cooperation base of Child development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
Yi ShuCenter of Clinical Molecular Medicine & Newborn Screening Center, Ministry of Education Key Laboratory of Child Development and Disorders; National Clinical Research Center for Child Health and Disorders (Chongqing), China International Science and Technology Cooperation base of Child development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
Dan ZhuCenter of Clinical Molecular Medicine & Newborn Screening Center, Ministry of Education Key Laboratory of Child Development and Disorders; National Clinical Research Center for Child Health and Disorders (Chongqing), China International Science and Technology Cooperation base of Child development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
Weiwei HuDepartment of respiratory and critical care medicine, First Affiliated Hospital of Chongqing Medical University, Chongqing, China.
Chaowen YuCenter of Clinical Molecular Medicine & Newborn Screening Center, Ministry of Education Key Laboratory of Child Development and Disorders; National Clinical Research Center for Child Health and Disorders (Chongqing), China International Science and Technology Cooperation base of Child development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
Juan ZhangCenter of Clinical Molecular Medicine & Newborn Screening Center, Ministry of Education Key Laboratory of Child Development and Disorders; National Clinical Research Center for Child Health and Disorders (Chongqing), China International Science and Technology Cooperation base of Child development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
Shan LiuCenter of Clinical Molecular Medicine & Newborn Screening Center, Ministry of Education Key Laboratory of Child Development and Disorders; National Clinical Research Center for Child Health and Disorders (Chongqing), China International Science and Technology Cooperation base of Child development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
Kexing WanCenter of Clinical Molecular Medicine & Newborn Screening Center, Ministry of Education Key Laboratory of Child Development and Disorders; National Clinical Research Center for Child Health and Disorders (Chongqing), China International Science and Technology Cooperation base of Child development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
Zhaojian YuanCenter of Clinical Molecular Medicine & Newborn Screening Center, Ministry of Education Key Laboratory of Child Development and Disorders; National Clinical Research Center for Child Health and Disorders (Chongqing), China International Science and Technology Cooperation base of Child development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
Hao LiuCenter of Clinical Molecular Medicine & Newborn Screening Center, Ministry of Education Key Laboratory of Child Development and Disorders; National Clinical Research Center for Child Health and Disorders (Chongqing), China International Science and Technology Cooperation base of Child development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
Dongjuan WangCenter of Clinical Molecular Medicine & Newborn Screening Center, Ministry of Education Key Laboratory of Child Development and Disorders; National Clinical Research Center for Child Health and Disorders (Chongqing), China International Science and Technology Cooperation base of Child development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
Tingting JiangCenter of Clinical Molecular Medicine & Newborn Screening Center, Ministry of Education Key Laboratory of Child Development and Disorders; National Clinical Research Center for Child Health and Disorders (Chongqing), China International Science and Technology Cooperation base of Child development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
Jie YuCenter of Clinical Molecular Medicine & Newborn Screening Center, Ministry of Education Key Laboratory of Child Development and Disorders; National Clinical Research Center for Child Health and Disorders (Chongqing), China International Science and Technology Cooperation base of Child development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
Penghui ZhangCenter of Clinical Molecular Medicine & Newborn Screening Center, Ministry of Education Key Laboratory of Child Development and Disorders; National Clinical Research Center for Child Health and Disorders (Chongqing), China International Science and Technology Cooperation base of Child development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
Lin ZouCenter of Clinical Molecular Medicine & Newborn Screening Center, Ministry of Education Key Laboratory of Child Development and Disorders; National Clinical Research Center for Child Health and Disorders (Chongqing), China International Science and Technology Cooperation base of Child development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGlucose-6-phosphate dehydrogenase (G6PD) deficiency is a hereditary disease caused by pathogenic mutations of
methodsThe variants were verified by exogenous expression in HEK-293 cells, and their functions were predicted by PolyPhen-2 and SIFT. The CRISPR/Cas9 system was exploited to edit the
resultsThe G6PD activity of exogenous
conclusionsOur data delineated the pathogenic role of
Indexed as
CRISPR/Cas9genome editingGlucose-6-phosphate dehydrogenase deficiency (G6PD deficiency)novel missense mutationpathogenic variant
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