医学遗传学系
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刘奇迹
作者:  来源:   发布时间:2016-11-02 13:27:02  浏览次数:

刘奇迹
教授,博士生导师,实验畸形学教育部重点实验室副主任
电话:0531-88382043
E-mail: liuqiji@sdu.edu.cn

学习和工作经历:
2007.09-至今: 山东大学基础医学院医学遗传学系,教授
2008.09-2009.08
: 香港大学医学院郑裕彤奖助金学者
2004.07-2009.08
: 山东大学医学院医学遗传学系,副教授
2004.02-2005.02
: 美国肯塔基大学医学院,访问学者
2001.06-2004.08
: 山东大学医学院医学遗传学系,讲师
1991.07-1998.09
: 山东医科大学,助教,讲师
2002.09-2005.06
: 山东大学医学院医学遗传学系学习,获博士学位
1998.09-2001.06
: 山东大学医学院医学遗传学专业学习,获硕士学位
1987.09-1991.06
: 华中科技大学医学信息系学习,获学士学位
学术兼职:
山东省医学遗传与优生学会主任委员
中华医学会医学遗传学分会委员

山东省干细胞学会副会长

中国遗传学会理事

山东省遗传学会常务理事

研究方向:
1. 罕见孟德尔遗传病致病基因的鉴定分离及功能分析:利用二代测序分离导致罕见孟德尔遗传病的致病基因,通过分离分析、生物信息学、体外功能分析,以及knockoutknockin小鼠模型深入解析突变的效应以及疾病发生的分子机制。课题组已经发现包括耳聋、神经退行性疾病在内的四个新的疾病致病基因,目前正在深入研究其具体机制。

2. 复杂疾病易感基因的鉴定与功能分析:基于群体样本的复杂疾病易感基因鉴定及功能分析:以自身免疫病为模型,利用大样本的散发病例对照,利用深度测序鉴定导致易感的常见及罕见变异,利用体内及体外功能分析方法鉴定变异的功能效应。

教学工作:
承担临床医学五年制,5+3、口、卫医学遗传学教学, 研究生医学分子遗传学,复杂疾病易感基因的鉴定与统计方法课程教学。

代表性论文:

1. Long F, Shi H, Li P, Guo S, Ma Y, Wei S, Li Y, Gao F, Gao S, Wang M, Duan R, Wang X, Yang K, Sun W, Li X, Li J, Liu Q.A SMOC2 variant inhibits BMP signaling by competitively binding to BMPR1B and causes growth plate defects. Bone. 2021 Jan;142:115686.

2. Duan R, Liu Q, Li J, Bian X, Yuan Q, Li Y, Long F, Gao S, Wei S, Li P, Gao F, Sun W, Li X, Liu Q. A De Novo Frameshift Mutation in TNFAIP3 Impairs A20 Deubiquitination Function to Cause Neuropsychiatric Systemic Lupus Erythematosus.J Clin Immunol. 2019 Nov;39(8):795-804.

3. Xiaojing W, Yanyan M, Ruonan D, Xiaolin L, Haiyan Z, Jian M, Yi L, Wenjie S, Qiji L.Generation of a human induced pluripotent stem cell line (SDUBMSi001-A) from a hereditary spastic paraplegia patient carrying kif1a c.773C>T missense mutation.Stem Cell Res. 2020 Mar;43:101727.

4. Yuan Q, Li Y, Li J, Bian X, Long F, Duan R, Ma X, Gao F, Gao S, Wei S, Li X, Sun W, Liu Q.WDFY4 Is Involved in Symptoms of Systemic Lupus Erythematosus by Modulating B Cell Fate via Noncanonical Autophagy.J Immunol. 2018 Nov 1;201(9):2570-2578.

5. Bian X, Lin P, Li J, Long F, Duan R, Yuan Q, Li Y, Gao F, Gao S, Wei S, Li X, Sun W, Gong Y, Yan C, Liu Q.Whole-Genome Linkage Analysis with Whole-Exome Sequencing Identifies a Novel Frameshift Variant in NEFH in a Chinese Family with Charcot-Marie-Tooth 2: A Novel Variant in NEFH for Charcot-Marie-Tooth 2. Neurodegener Dis. 2018;18(2-3):74-83.

6. 22. Li J, Zhao X, Xin Q, Shan S, Jiang B, Jin Y, Yuan H, Dai P, Xiao R, Zhang Q, Xiao J, Shao C,  Gong Y, Liu Q*. (2015)  Whole-exome Sequencing Identifies a Variant in TMEM132E Causing Autosomal-Recessive Nonsyndromic Hearing Loss DFNB99. Hum Mutat. 36(1):98-105

7. Xin Q, Li J, Dang J, Bian X, Shan S, Yuan J, Qian Y, Liu Z, Liu G, Yuan Q, Liu N, Ma X, Gao F,Gong Y, Liu Q*.(2015) miR-155 Deficiency Ameliorates Autoimmune Inflammation of Systemic Lupus Erythematosus by Targeting S1pr1 in Faslpr/lpr Mice. J Immunol. 2015 Jun 1;194(11):5437-45. 20.

8. Wang X, Xin Q, Li L, Li J, Zhang C, Qiu R, Qian C, Zhao H, Liu Y, Shan S, Dang J, Bian X, Shao C, Gong Y, Liu Q*. (2014)  Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese  family with autosomal-dominant split-hand/foot malformation. Eur J Hum Genet. 22(9):1105-10 7. Zhao H, Yang W, Qiu R, Li J, Xin Q, Wang X, Feng Y, Shan S, Liu Y, Gong Y, Liu Q*. (2012)

9. An intronic variant associated with systemic lupus erythematosus changes the binding affinity of Yinyang1 to downregulate WDFY4. Genes Immun. 13(7):536-42.
















Curriculum Vitae

Liu Qiji Professor and Director of Department of Medical Genetics, Shandong University School of Basic Medical Sciences

Education

June 2005:  PhD, Medical Genetics, Shandong University

June 2001:  Master, Medical Genetics, Shandong Medical University

July 1991:  Bachelor, Tongji Medical College HUST


Work Experience

2020.3-present: Vice Dean, Cheeloo College of Medicine, Shandong University

2007.9-present: Professor , Department of Genetics, Shandong University

2008.9-2009.8: Visiting Scholar, The University of Hong LKS Faculty of Medicine Kong

2004.9-2007.9: Associate Professor, Department of Genetics, Shandong University

2004.2-2005.2: Visiting Scholar, University of Kentucky School of Medicine

2001.7-2004.9: Lecturer, Department of Genetics, Shandong University

1991.7-1998.9: Instructor, Lecturer, Shandong Medical University

Award and Group Membership:

2008, Distinguished Young Scientist of Shandong Province

2014, Chairman of Shandong Society of Medical Genetics

2006, Member of Chinese Society of Genetics


Research Interests:

Mainly focus on identifying the disease genes of rare Mendelian diseases using next generation sequencing. Finding the rare variants of monogenic form of common diseases like autoimmune diseases.

Selected Publications*Correspondence):

Long F, Shi H, Li P, Guo S, Ma Y, Wei S, Li Y, Gao F, Gao S, Wang M, Duan R, Wang X, Yang K, Sun W, Li X, Li J, Liu Q.A SMOC2 variant inhibits BMP signaling by competitively binding to BMPR1B and causes growth plate defects. Bone. 2021 Jan;142:115686.

Duan R, Liu Q, Li J, Bian X, Yuan Q, Li Y, Long F, Gao S, Wei S, Li P, Gao F, Sun W, Li X, Liu Q. A De Novo Frameshift Mutation in TNFAIP3 Impairs A20 Deubiquitination Function to Cause Neuropsychiatric Systemic Lupus Erythematosus.J Clin Immunol. 2019 Nov;39(8):795-804.

Xiaojing W, Yanyan M, Ruonan D, Xiaolin L, Haiyan Z, Jian M, Yi L, Wenjie S, Qiji L.Generation of a human induced pluripotent stem cell line (SDUBMSi001-A) from a hereditary spastic paraplegia patient carrying kif1a c.773C>T missense mutation.Stem Cell Res. 2020 Mar;43:101727.

Yuan Q, Li Y, Li J, Bian X, Long F, Duan R, Ma X, Gao F, Gao S, Wei S, Li X, Sun W, Liu Q.WDFY4 Is Involved in Symptoms of Systemic Lupus Erythematosus by Modulating B Cell Fate via Noncanonical Autophagy.J Immunol. 2018 Nov 1;201(9):2570-2578.

Bian X, Lin P, Li J, Long F, Duan R, Yuan Q, Li Y, Gao F, Gao S, Wei S, Li X, Sun W, Gong Y, Yan C, Liu Q.Whole-Genome Linkage Analysis with Whole-Exome Sequencing Identifies a Novel Frameshift Variant in NEFH in a Chinese Family with Charcot-Marie-Tooth 2: A Novel Variant in NEFH for Charcot-Marie-Tooth 2. Neurodegener Dis. 2018;18(2-3):74-83.

22. Li J, Zhao X, Xin Q, Shan S, Jiang B, Jin Y, Yuan H, Dai P, Xiao R, Zhang Q, Xiao J, Shao C,  Gong Y, Liu Q*. (2015)  Whole-exome Sequencing Identifies a Variant in TMEM132E Causing Autosomal-Recessive Nonsyndromic Hearing Loss DFNB99. Hum Mutat. 36(1):98-105

Xin Q, Li J, Dang J, Bian X, Shan S, Yuan J, Qian Y, Liu Z, Liu G, Yuan Q, Liu N, Ma X, Gao F,Gong Y, Liu Q*.(2015) miR-155 Deficiency Ameliorates Autoimmune Inflammation of Systemic Lupus Erythematosus by Targeting S1pr1 in Faslpr/lpr Mice. J Immunol. 2015 Jun 1;194(11):5437-45. 20.

Wang X, Xin Q, Li L, Li J, Zhang C, Qiu R, Qian C, Zhao H, Liu Y, Shan S, Dang J, Bian X, Shao C, Gong Y, Liu Q*. (2014)  Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese  family with autosomal-dominant split-hand/foot malformation. Eur J Hum Genet. 22(9):1105-10 7. Zhao H, Yang W, Qiu R, Li J, Xin Q, Wang X, Feng Y, Shan S, Liu Y, Gong Y, Liu Q*. (2012)

An intronic variant associated with systemic lupus erythematosus changes the binding affinity of Yinyang1 to downregulate WDFY4. Genes Immun. 13(7):536-42.





 
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