详情页 - 云南省第一人民医院机构库

当前位置：首页 > 详情页

LRP10 Mutations May Correlate with Sporadic Parkinson’s Disease in China

70| 认领 | 导出 | 链接全文 |

文献详情

资源类型：

WOS体系：

Pubmed体系：

收录情况： ◇ SCIE

作者：

机构： [1]Department of Neurology, West China Hospital, Sichuan University, Chengdu 610041Sichuan Province, People’s Republic of China [2]Department of Geriatric Neurology, First Affiliated Hospital of Kunming Medical University, Kunming 650032, Yunnan Province, People’s Republic of China [3]Department of Neurology, The first affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou 450000, Henan Province, People’s Republic of China

出处：

DOI：

ISSN：

关键词： Genetic variants LDL receptor-related protein 10 LRP10 Parkinson’s disease

摘要：

LDL receptor-related protein (LRP) 10 was recently identified as a Parkinson’s disease gene through genome-wide linkage and sequencing analysis, but its role in Parkinson’s disease in various populations is still unclear. The aim of this study was to determine the frequency and spectrum of LRP10 mutations in a cohort of Parkinson’s disease patients from mainland China. All LRP10 exons and their flanking intron regions were screened by direct sequencing in 567 unrelated Parkinson’s disease patients and 600 unrelated controls. We detected 29 exonic or splicing variants in 79 patients with Parkinson’s disease. Five variants (c.A181C:p.I61L, c.C652T:p.Q218X, c.C833T:p.T278I, c.T1592G:p.I531S, c.T1697C:p.L566P) were predicted to be disease-causing or damaging by multiple in silico tools. Our study provides genetic evidence that LRP10 defects may correlate with sporadic Parkinson’s disease. © 2020, Springer Science+Business Media, LLC, part of Springer Nature.

基金：

语种：

被引次数：

WOS：

PubmedID：

中科院(CAS)分区：

出版当年[2021]版：

大类 | 2 区医学

小类 | 2 区神经科学

最新[2023]版：

大类 | 2 区医学

小类 | 2 区神经科学

JCR分区：

出版当年[2020]版：

Q1 NEUROSCIENCES

最新[2023]版：

Q1 NEUROSCIENCES

影响因子： 4.6 最新[2023版] 4.7 最新五年平均 5.59 出版当年[2020版] 5.512 出版当年五年平均 4.5 出版前一年[2019版] 5.686 出版后一年[2021版]

第一作者：

第一作者机构： [1]Department of Neurology, West China Hospital, Sichuan University, Chengdu 610041Sichuan Province, People’s Republic of China

共同第一作者：

通讯作者：

推荐引用方式(GB/T 7714)：

APA：

MLA：

相关文献

[1]MGA-seq: robust identification of extrachromosomal DNA and genetic variants using multiple genetic abnormality sequencing [2]Genetic Association Analysis of Common Variants in FOXO3 Related to Longevity in a Chinese Population [3]MAOA Variants and Genetic Susceptibility to Major Psychiatric Disorders [4]Genetic variants in chemokine CC subfamily genes influence hepatitis C virus viral clearance [5]Genetic polymorphisms analysis of pharmacogenomic VIP variants in Bai ethnic group from China [6]Signaling pathways of genetic variants and miRNAs in the pathogenesis of myasthenia gravis [7]MTF1 genetic variants are associated with lung cancer risk in the Chinese Han population [8]Common variants of OPA1 conferring genetic susceptibility to leprosy in Han Chinese from Southwest China [9]Genetic polymorphisms of pharmacogenomic VIP variants in the Dai population from Yunnan province [10]Genetic variability and functional implication of the long control region in HPV-16 variants in Southwest China