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金介员

2024年09月03日 10:36  点击:[]

 

姓名:金介员  博士

职称职务:医学检验系专任教师

荣誉:参与获得2022年湖南医学科技奖一等奖(7/11

社会兼职:Genes Dis.Orphanet J Rare Dis.HeliyonFront GenetSCI杂志审稿人

研究方向:心血管疾病和骨骼发育畸形的遗传和机制研究

主讲课程:《生物化学》

发表代表性论文:

1. Jin JY#, Chang SH, Chen YQ, Liu MW, Yi D, Liu JS, Wang Q, Huang H*, Fan LL*, Xiang R*. Reticulon 3 regulates sphingosine-1-phosphate synthesis in endothelial cells to control blood pressure. MedComm. 2024 Feb 13;5:e480.IF10.7

2. Liang C#, Xiang R, Chang SH, Liu MW, Jin JY*. Familial congenital heart disease caused by a frameshift variant in glyoxylate reductase 1 homolog (GLYR1). QJM. 2024 Apr 12; 117(4):297-299.IF7.3

3. Zhang SY#, Zhu L#, Fan LL, Xiang R, Zeng L, Jin JY*. Late-onset hereditary spastic paraplegia associated with a genetic variant in interferon induced with helicase c domain 1 (IFIH1) gene. QJM. 2023 Jul 28; 116(7):574-576.IF13.3

4. Li AL#, He JQ#, Zeng L, Hu YQ, Wang M, Long JY, Chang SH, Jin JY*, Xiang R*. Identification of novel Fibrillin 2 Variants Impacting the Disulfide Bond and Causing Congenital Contractural Arachnodactyly. Front Genet. 2023 Mar 3; 14:1035887.IF3.7

5. Lu YL#, Wang Q#, Wang M, Chang SH, He JQ, Xiang R, Tang JY*, Jin JY*. Identification of A Novel Variant of Filamin A Destroying the Attraction between Benzene Rings and Sulfhydryl in Developmental Dysplasia of the Hip. DNA Cell Biol. 2023 Oct; 42(10):638-644.IF3.1

6. Jin JY#, Wu LP, Dong Y, Pi HC, Wu HF, Xiang R*. Identification of a novel GATA binding protein 5 variant (c.830C>T/p.P277L) damaging the nuclear translocation and causing tetralogy of Fallot. QJM. 2022 Apr 20; 115(4):256-258.IF14.04

7. Jin JY#, Wu PF, Luo FM, Guo BB, Zeng L, Fan LL*, Tang JY*, Xiang R*. GLIS family zinc finger 1 was first linked with preaxial polydactyly I in humans by stepwise genetic analysis. Front Cell Dev Biol. 2022 Jan 11; 9:671296.IF6.081

8. Jin JY#, Xiao J#, Dong Y, Sheng Y, Guo YD*, Xiang R*. Identification of the first synonymous variant of Myosin Binding Protein C3 (c.24A>C, p.P8P) altering RNA splicing in a cardiomyopathy and sudden cardiac death case. Front Cardiovasc Med. 2022 Mar 2; 9:806977.IF5.848

9. Jin JY#, Zhang LY, Guo S, Tang K, Zeng L, Xiang R, Liang JY*. Genetic Analysis Combined with 3D-Printing Assistant Surgery in Diagnosis and Treatment for an X-Linked Hypophosphatemia Patient. J Clin Lab Anal. 2022 Mar; 36(3):e24243. (IF3.124)

10. Huang H#, Jin JY#, Wu LP, Wu HF, Pi HC, Dong Y, Xiang R*. A de novo nonsense NFIB mutation (p.Tyr290*) is responsible for brain malformation and lung lobulation defects. Front Pediatr. 2022 Mar 30; 10:865181.IF2.6

11. Liu YH#, Zhang HF#, Jin JY#, Wei YQ, Wang CY, Fan LL*, Liu L*. A Homozygous Mutation (p.Y62X) of Phospholipase D3 May Lead to a New Leukoencephalopathy Syndrome. Front Aging Neurosci. 2021 Jun 29; 13:671296.IF5.75

12. Jin JY#, Guo BB#, Dong Y, Sheng Y, Fan LL*, Zhang LB*. A Novel CACNA1S Mutation Associated with Hypokalemic Periodic Paralysis in a Chinese Family. Front Genet. 2021 Oct 29; 12:743184.IF4.772

13. Jin JY#, Zeng L#, Guo BB, Dong Y, Tang JY*, Xiang R*. A Novel Gross Deletion in PAX3 (10.26 kb) Identified in a Chinese Family with Waardenburg Syndrome by Third-Generation Sequencing. Front Genet. 2021 Aug 11; 12:705973.IF4.772

14. Jin JY#, Wu PF, He JQ, Fan LL, Yuan ZZ, Pang XY, Tang JY*, Zhang LY*. Novel Compound Heterozygous DST Variants Causing Hereditary Sensory and Autonomic Neuropathies VI in Twins of a Chinese Family. Front Genet. 2020 May 25; 11:492.IF4.599

主持或参与课题:

1. 湖南省自然科学基金 青年项目2024JJ6693,网状蛋白3通过血管内皮神经酰胺-S1P轴参与激素型股骨头坏死的机制研究,2024年至2026年,5万,在研,主持

2. 中南大学湘雅医院青年科研基金2022Q10RTN3通过与CERS蛋白影响S1P从头合成途径参与血压调控,2023年至2024年,10万元,在研,主持

3. 国家自然科学基金 面上项目82170598Lipin3通过SIRT1调控线粒体损伤在肝脏甘油三酯代谢紊乱中的作用,2022202555万元,在研,参与

4. 国家自然科学基金 面上项目82072194Nrf2调控FUNDC1介导线粒体自噬在跨区穿支皮瓣choke血管重塑中的作用及机制研究,2021202455万元,在研,参与

5. 国家自然科学基金 国际(地区)合作与交流项目32061143029,微囊藻对亚致死氧化胁迫的易感性机制及其在安全有效蓝藻水华控制中的应用,20202023199万元,结题,参与

专利:

1. 项荣,金介员,黄皓,范亮亮. 肥厚性心肌病致病基因及其应用,2021-08-06,中国,国家发明专利ZL202010680968.9






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