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科研机构
山东大学 [7]
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期刊论文 [5]
会议论文 [2]
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2016 [1]
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专题:山东大学
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S113R mutation in SLC33A1 leads to neurodegeneration and augmented BMP signaling in a mouse model
期刊论文
DISEASE MODELS & MECHANISMS, 2017, 卷号: 10, 期号: 1, 页码: 53-62
作者:
Liu, Pingting
;
Jiang, Baichun
;
Ma, Jian
;
Lin, Pengfei
;
Zhang, Yinshuai
收藏
  |  
浏览/下载:8/0
  |  
提交时间:2019/12/12
SLC33A1
Bone morphogenetic protein (BMP)
Knockin mouse model
Neurodegeneration
Hereditary spastic paraplegia
G) mutation leads to neurod egeneration and accelerates injury-induced peripheral nerv e axonal regrowth in mice by modulating BMP signaling">SLC33A1 p.Ser113Arg(c.339T>G) mutation leads to neurod egeneration and accelerates injury-induced peripheral nerv e axonal regrowth in mice by modulating BMP signaling
会议论文
中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会
作者:
Liu Pingting
;
Jiang Baichun
;
Ma Jian
;
Lin Pengfei
;
Shao Changshun
收藏
  |  
浏览/下载:6/0
  |  
提交时间:2019/12/31
G
">SLC33A1 p.Ser113Arg
BMP
c.339T>G
G (p.Ser113Arg) Variant in the Original SPG42 Family">Identification and Functional Analysis of a SLC33A1: c.339T > G (p.Ser113Arg) Variant in the Original SPG42 Family
期刊论文
HUMAN MUTATION, 2015, 卷号: 36, 期号: 2, 页码: 240-249
作者:
Mao, Fei
;
Li, Zhaohui
;
Zhao, Baoyue
;
Lin, Pengfei
;
Liu, Pingting
收藏
  |  
浏览/下载:12/0
  |  
提交时间:2019/12/17
hereditary spastic paraplegias (HSP)
exome sequencing
SLC33A1
mutation
Parallel maximum likelihood estimator for multiple linear regression models
期刊论文
JOURNAL OF COMPUTATIONAL AND APPLIED MATHEMATICS, 2015, 卷号: 273, 页码: 251-263
作者:
Guo, Guangbao
;
You, Wenjie
;
Qian, Guoqi
;
Shao, Wei
收藏
  |  
浏览/下载:7/0
  |  
提交时间:2019/12/17
Multiple linear regression models
Parallel computing
Maximum
likelihood estimator
Consistency
Outlier
G (p.Ser113Arg) Variant in the Original SPG42 Family">Identification and Functional Analysis of a SLC33A1: c.339T > G (p.Ser113Arg) Variant in the Original SPG42 Family
期刊论文
Human mutation, 2015, 页码: 240-249
作者:
Mao, Fei
;
Li, Zhaohui
;
Zhao, Baoyue
;
Lin, Pengfei
;
Liu, Pingting
收藏
  |  
浏览/下载:2/0
  |  
提交时间:2019/12/17
hereditary spastic paraplegias (HSP)
exome sequencing
SLC33A1
mutation
G) Mutation in SLC33A1 Acquires Dominant-Negative Functions and Leads to Upregulated BMP Signaling">The P.Ser113Arg(c.339T>G) Mutation in SLC33A1 Acquires Dominant-Negative Functions and Leads to Upregulated BMP Signaling
会议论文
2014全球华人遗传学大会全国第十三次医学遗传学学术会议
作者:
Fei Mao
;
Zhaohui Li
;
Baoyue Zhao
;
Pengfei Lin
;
Pingting Liu
收藏
  |  
浏览/下载:2/0
  |  
提交时间:2019/12/31
G
">SLC
BMP
Mutation in SLC33A1 Acquires Dominant-Negative Functions and Leads to Upregulated BMP Signaling
The P.Ser113Arg
c.339T>G
Lack of Cul4b, an E3 Ubiquitin Ligase Component, Leads to Embryonic Lethality and Abnormal Placental Development
期刊论文
PLOS ONE, 2012, 卷号: 7, 期号: 5
作者:
Jiang, Baichun
;
Zhao, Wei
;
Yuan, Jupeng
;
Qian, Yanyan
;
Sun, Wenjie
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2019/12/23
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