VARIANTS

作品数：598被引量：1042H指数：14
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Genetic analysis of transcription factors in dopaminergic neuronal development in Parkinson’s disease
《Chinese Medical Journal》2024年第4期450-456,共7页Yuwen Zhao Lixia Qin Hongxu Pan Tingwei Song Yige Wang Xiaoxia Zhou Yaqin Xiang Jinchen Li Zhenhua Liu Qiying Sun Jifeng Guo Xinxiang Yan Beisha Tang Qian Xu 
supported by grants from the National Natural Science Foundation of China(Nos.82071437,U20A20355,and 82101342);the Hunan Innovative Province Construction Project(No.2019SK2335);the Natural Science Foundations of Hunan Province(No.2021JJ31115);the National Key Research and Development Program of China(Nos.2016YFC1306000 and 2021YFC2502100);the Project Program of National Clinical Research Center for Geriatric Disorders(Xiangya Hospital)(No.2021KFJJ10)
Background:Genetic variants of dopaminergic transcription factor-encoding genes are suggested to be Parkinson’s disease(PD)risk factors;however,no comprehensive analyses of these genes in patients with PD have been u...
关键词：Parkinson’s disease Transcription factors Dopaminergic neurons GENETIC VARIANTS 
Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52(MRT52)patient with phenotype expansion
《Chinese Medical Journal》2023年第17期2107-2109,共3页Cong Zhou Xing Wei Yuanyuan Xiao Shanling Liu Jing Wang 
National Key Research and Development Program of China(No.2021YFC1005300);Program of Science and Technology Department of Sichuan Province(No.2022YFS0244)
To the Editor:Autosomal recessive mental retardation-52(MRT52,OMIM:616887)was first reported in 2016 and is characterized by global developmental delay,[1]severe intellectual disability(ID),speech disorder,and seizure...
关键词：EXPANSION EXACT delay 
Functional mutations of SARS-CoV-2:implications to viral transmission,pathogenicity and immune escape
《Chinese Medical Journal》2022年第10期1213-1222,共10页Shengyuan Dang Lili Ren Jianwei Wang 
This review was supported by the Medical and Health Science and Technology Innovation Project of Chinese Academy of Medical Sciences(No. 2021-I2M-1-040)。
The pandemic of coronavirus disease 2019 caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has led to major public health challenges globally. The increasing viral lineages identified indicate tha...
关键词：Severe acute respiratory syndrome coronavirus 2(SARS-CoV-2) Mutation Variants of concern Variants of interest Adaptive evolution 
Real-time reverse transcription-polymerase chain reaction assay panel for the detection of severe acute respiratory syndrome coronavirus 2 and its variants被引量：4
《Chinese Medical Journal》2021年第17期2048-2053,共6页Rou-Jian Lu Li Zhao Bao-Ying Huang Fei Ye Wen-Ling Wang Wen-Jie Tan 
This work was supported by grants from the National Key Research and Development Program of China(Nos.2016YFD0500301,2021YFC0863300,and 2020YFC0840900).
Background:With the ongoing worldwide coronavirus disease 2019(COVID-19)pandemic,an increasing number of viral variants are being identified,which poses a challenge for nucleic acid-based diagnostic tests.Rapid tests,...
关键词：COVID-19 SARS-CoV-2 RT-PCR assay Variants of concern RNA polymerase NUCLEOCAPSID SARS-CoV-2 B.1.351 SARS-CoV-2 B.1.1.7 SARS-CoV-220A S484K variant 
Substantia nigra hyperechogenicity in Parkinson disease patients with leucine-rich repeat kinase 2 variants in the Chinese Han population
《Chinese Medical Journal》2020年第12期1483-1484,共2页Kai Li Chen-Chen Gu Jin-Ru Zhang Hong Jin Yi-Lun Ge Jing Chen Ya-Ping Yang Fen Wang Cheng-Jie Mao Ying-Chun Zhang Chun-Feng Liu 
This work was supported by grants from the National Key R&D Program of China(No.2017YFC0909100);the National Natural Science Foundation of China(No.81801120);the Initial Scientific Research Fund at the Second Affiliated Hospital of Soochow University(No.SDFEYBS1702);Jiangsu Provincial Medical Key Discipline Project(No.ZDXKB2016022);Jiangsu Provincial social development projects(No.BE2018658 and BE2017653);Suzhou Clinical Research Center of Neurological Disease(No.Szzx201503).
To the Editor:Parkinson disease(PD)is the second most common neurodegenerative disease,and is characterized by both motor and non-motor symptoms.The leucine-rich repeat kinase 2(LRRK2)gene,characterized by different m...
关键词：PATIENTS CLINICAL MUTATION 
Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth被引量：3
《Chinese Medical Journal》2018年第2期151-155,共5页Xin Zhao Ming-Ming Jiang Yi-Zhou Yan Lei Liu Yong-Zhi Xie Xiao-Bo Li Zheng-Mao Hu Xiao-Hong Zi Kun Xia Bei-Sha Tang Ru-Xu Zhang 
Background： SH3TC2, PMP2, and BSCL2 genes are related to autosomal recessive （AR） Charcot-Marie-Tooth （CMT） disease type 1, autosomal dominant （AD）-CMTI, and AD-CMT2, respectively. Pathogenic variants in these ...
关键词：BSCL2 Charcot-Marie-Tooth Disease PMP2 SH3TC2 
Variants in the Promoter Region of HLA-DQA1 were Associated with Idiopathic Membranous Nephropathy in a Chinese Han Population被引量：7
《Chinese Medical Journal》2017年第14期1677-1682,共6页Xiao-Song Qin Jian-Hua Liu Guan-Ting Lyu Meng-Le Peng Fu-Ning Yang Dong-Chun Qin Yong-Zhe Li Yong Liu 
Background：Idiopathic membranous nephropathy （IMN） is an autoimmune disease and the leading cause of adult nephritic syndrome.HLA-DQA1 had been identified to be associated with IMN in Europeans and the result was r...
关键词：Autoimmune Disease HLA-DQA1 Idiopathic Membranous Nephropathy PROMOTER CHINESE 
ixed Dubin-Gilbert Syndrome： A Compound Heterozygous Phenotype of Two Novel Variants in ABCC2 Gene被引量：5
《Chinese Medical Journal》2017年第8期1003-1005,共3页Jun Jiang Hua-Gui Wang Wei-Li Wu Xiang-Xin Peng 
Gilbert syndrome （GS, MIM #143500） is characterized by fluctuating mild, unconjugated hyperbilirubinemia 〈85 μmol/L and is caused by mutations in the bilirubin uridine diphosphate （UDP）-glucuronosyltransferase g...
关键词：ABCC2 Gene Dubin-Johnson Syndrome Gilbert＇s Syndrome HYPERBILIRUBINEMIA UGTIAI Gene 
Anatomical Knee Variants in Discoid Lateral Meniscal Tears被引量：3
《Chinese Medical Journal》2017年第5期536-541,共6页Xu-Xu Chen Jian Li Tao Wang Yang Zhao Hui Kang 
This work was supportecl by the Grant from the China Postdoctoral Science Foundation （No. 2016M602846）.
Background： Discoid lateral meniscus was a common meniscal dysplasia and was predisposed to tear. There were some anatomical knee variants in patients with discoid lateral meniscus. The aim of this study was to analy...
关键词：Anatomy Knee Joint Lateral Menisci RADIOGRAPHY 
Variants of Interleukin-7/Interleukin-7 Receptor Alpha are Associated with Both Neuromyelitis Optica and Multiple Sclerosis Among Chinese Han Population in Southeastern China被引量：4
《Chinese Medical Journal》2015年第22期3062-3068,共7页Jing-Cong Zhuang Lei Wu Mei-Zhen Qian Ping-Ping Cai Qi-Bing Liu Gui-Xian Zhao Zhen-Xin Li Zhi-Ying Wu 
w The authors sincerely thank the patients and their parents for the help and willingness to take part in this study.This work was supported by grants from National Key Clinical Specialty Discipline Construction Program and Key Clinical Specialty Discipline Construction Program of Fujian and the National Natural Science Foundation of China （No. 81125009 and No. 3091110488）.
Background： Neuromyelitis optica （NMO） and multiple sclerosis （MS） are autoimmune demyelinating diseases of the central nerve system, lnterleukin-7 （IL-7） and interleukin-7 receptor alpha （IL-7Rα） were prove...
关键词：ASSOCIATION lnterleukin-7/Interleukin-7 Receptor Alpha Multiple Sclerosis Neuromyelitis Optica Chinese Han Population 
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