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个人信息Personal Information
副教授 硕士生导师
性别：女
学历：博士研究生毕业
学位：理学博士学位
在职信息：在职
所在单位：基础医学院
入职时间：2009-07-16
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- [21] 孙文杰 , 刘奇迹 and 关景云. Generation of an iPSC line (SDQLCHi015-A) from peripheral blood mononuclear cells of a patient with mental retardation type 15 carrying c.1007_1011del, p.(Ile336fs) in CUL4B gene.. stem cell research, 2019.
- [22] 龚瑶琴 , 蒋百春 , 孙文杰 , 邹永新 , 郭辰虹 , 陈丙玺 and 邵常顺. Lack of Cul4b, an E3 ubiquitin ligase component, leads to embryonic lethality and abnormal placental development.. PLoS ONE., 7, 37070, 2012.
- [23] 龚瑶琴 , 刘奇迹 , 邵常顺 and 孙文杰. Identification and Functional Analysis of a SLC33A1: c.339T>G (p.Ser113Arg) Variant in the Original SPG42 Family.. Hum Mutat, 36, 240, 2015.
- [24] 孙文杰 , 邵常顺 , 刘奇迹 and 龚瑶琴. Identification and Functional Analysis of a SLC33A1: c.339T>G (p.Ser113Arg) Variant in the Original SPG42 Family.. Hum Mutat, 36, 240, 2015.
- [25] 蒋百春 , 邵常顺 , 孙文杰 , 龚瑶琴 and 刘娉婷. S113R mutation in SLC33A1 leads to neurodegeneration and augmented BMP signaling in a mouse model. Disease Models & Mechanisms, 10, 53, 2017.
- [26] 陈丙玺 , 孙文杰 , 邹永新 , 郭辰虹 , 邵常顺 , 蒋百春 and 龚瑶琴. Lack of Cul4b, an E3 ubiquitin ligase component, leads to embryonic lethality and abnormal placental development.. PLoS ONE., 7, e37070, 2012.
- [27] 邵常顺 , 刘奇迹 , 孙文杰 and 龚瑶琴. Identification and Functional Analysis of a SLC33A1: c.339T>G (p.Ser113Arg) Variant in the Original SPG42 Family.. Hum Mutat, 36, 240, 2015.
- [28] 邵常顺 , 刘奇迹 , 孙文杰 and 龚瑶琴. Identification and Functional Analysis of a SLC33A1: c.339T>G (p.Ser113Arg) Variant in the Original SPG42 Family.. Hum Mutat, 36, 240, 2015.
- [29] 蒋百春 , 邵常顺 , 孙文杰 , 龚瑶琴 and 刘娉婷. S113R mutation in SLC33A1 leads to neurodegeneration and augmented BMP signaling in a mouse model. Disease Models & Mechanisms, 10, 53, 2017.
- [30] 邵常顺 , 孙文杰 , 邹永新 , 郭辰虹 , 陈丙玺 , 蒋百春 and 龚瑶琴. Lack of Cul4b, an E3 ubiquitin ligase component, leads to embryonic lethality and abnormal placental development.. PLoS ONE., 7, e37070, 2012.
- [31] 孙文杰 , 刘奇迹 , 邵常顺 and 龚瑶琴. Identification and Functional Analysis of a SLC33A1: c.339T>G (p.Ser113Arg) Variant in the Original SPG42 Family.. Hum Mutat, 36, 240, 2015.