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J

Jie-wei Luo

fuzhou university
H指数:12
被引数:497

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Functional analysis of PKLR p.Arg426Gln reveals isoform-specific aberrant PKR phosphorylation and PKL metabolic reprogramming

PKLR基因p.Arg426Gln位点的功能分析揭示了异构体特异性的异常PKR磷酸化及PKL代谢重编程

2026-10-070
OAAI
Fasudil targets the RhoA/ROCK-NLRP3 axis to attenuate aristolochic acid-induced renal pyroptosis: translational validation by in vivo molecular imaging

Fasudil通过靶向RhoA/ROCK-NLRP3轴来减轻马兜铃酸诱导的肾焦亡:通过体内分子成像进行转化验证

2025-11-240
PRE
A novel NOTCH1 nonsense variant in a bicuspid aortic valve family with intrafamilial clinical heterogeneity

在一个存在家族内临床异质性的二叶主动脉瓣家族中发现了一种新型的NOTCH1无义变异。

2025-09-290
OAAI
Genetic analysis of a family with skeletal muscle ion channelopathy and hereditary spastic paraplegia type 7 caused by SCN4A and SPG7 double mutations

携带SCN4A和SPG7双重突变、患有骨骼肌离子通道病及7型遗传性痉挛性截瘫家族的遗传分析

Gene
IF2.4
2025-09-230
PRE
Clinical genetic analysis of an adult polyglucosan body disease (APBD) family caused by the compound heterozygous variant of GBE1 p.R156C and deletion exon 3-7

由GBE1 p.R156C复合杂合变异和外显子3-7缺失引起的成人聚葡萄糖体病(APBD)家系的临床遗传学分析

2025-03-190
OA
Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier (vol 69, pg 2109, 2024)

非经典性胆固醇酯贮积症显性遗传的家系分析:LIPA I378T杂合子携带者(vol 69, pg 2109, 2024)

2025-02-220
PRE
In vitro study of ATP1A3 p.Ala275Pro mutant causing alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism

ATP1A3 p.Ala275Pro突变体引起儿童交替性偏瘫和快速发作的肌张力障碍-帕金森综合征的体外研究

2024-07-310
OAAI