日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

The landscape of non-reference SINE-VNTR-Alus in amyotrophic lateral sclerosis

肌萎缩侧索硬化症中非参考 SINE-VNTR-Alus 的分布情况

Pfaff, Abigail L; Bubb, Vivien J; Quinn, John P; Kõks, Sulev

Exploring SVA Insertion Polymorphisms in Shaping Differential Gene Expressions in the Central Nervous System

探索SVA插入多态性在中枢神经系统差异基因表达中的作用

Hughes, Lauren S; Fröhlich, Alexander; Pfaff, Abigail L; Bubb, Vivien J; Quinn, John P; Kõks, Sulev

Deciphering the role of a SINE-VNTR-Alu retrotransposon polymorphism as a biomarker of Parkinson's disease progression.

揭示 SINE-VNTR-Alu 逆转录转座子多态性作为帕金森病进展生物标志物的作用

Fröhlich Alexander, Pfaff Abigail L, Middlehurst Ben, Hughes Lauren S, Bubb Vivien J, Quinn John P, Koks Sulev

Genome-Wide Analysis of Structural Variants in Parkinson Disease

帕金森病结构变异的全基因组分析

Billingsley, Kimberley J; Ding, Jinhui; Jerez, Pilar Alvarez; Illarionova, Anastasia; Levine, Kristin; Grenn, Francis P; Makarious, Mary B; Moore, Anni; Vitale, Daniel; Reed, Xylena; Hernandez, Dena; Torkamani, Ali; Ryten, Mina; Hardy, John; Chia, Ruth; Scholz, Sonja W; Traynor, Bryan J; Dalgard, Clifton L; Ehrlich, Debra J; Tanaka, Toshiko; Ferrucci, Luigi; Beach, Thomas G; Serrano, Geidy E; Quinn, John P; Bubb, Vivien J; Collins, Ryan L; Zhao, Xuefang; Walker, Mark; Pierce-Hoffman, Emma; Brand, Harrison; Talkowski, Michael E; Casey, Bradford; Cookson, Mark R; Markham, Androo; Nalls, Mike A; Mahmoud, Medhat; Sedlazeck, Fritz J; Blauwendraat, Cornelis; Gibbs, J Raphael; Singleton, Andrew B

Unsupervised machine learning identifies distinct ALS molecular subtypes in post-mortem motor cortex and blood expression data

无监督机器学习可识别死后运动皮层和血液表达数据中的不同ALS分子亚型

Marriott, Heather; Kabiljo, Renata; Hunt, Guy P; Khleifat, Ahmad Al; Jones, Ashley; Troakes, Claire; Pfaff, Abigail L; Quinn, John P; Koks, Sulev; Dobson, Richard J; Schwab, Patrick; Al-Chalabi, Ammar; Iacoangeli, Alfredo

A Genome-Wide Screen for the Exonisation of Reference SINE-VNTR-Alus and Their Expression in CNS Tissues of Individuals with Amyotrophic Lateral Sclerosis

对参考 SINE-VNTR-Alus 外显子化及其在肌萎缩侧索硬化症患者中枢神经系统组织中的表达进行全基因组筛选

Pfaff, Abigail L; Bubb, Vivien J; Quinn, John P; Koks, Sulev

Reference LINE-1 insertion polymorphisms correlate with Parkinson's disease progression and differential transcript expression in the PPMI cohort

参考LINE-1插入多态性与PPMI队列中帕金森病进展和差异转录表达相关

Fröhlich, Alexander; Pfaff, Abigail L; Bubb, Vivien J; Quinn, John P; Koks, Sulev

CRISPR deletion of a SINE-VNTR-Alu (SVA_67) retrotransposon demonstrates its ability to differentially modulate gene expression at the MAPT locus

利用 CRISPR 技术删除 SINE-VNTR-Alu (SVA_67) 逆转录转座子,证明了其能够差异性地调节 MAPT 位点的基因表达。

Fröhlich, Alexander; Hughes, Lauren S; Middlehurst, Ben; Pfaff, Abigail L; Bubb, Vivien J; Koks, Sulev; Quinn, John P

Regulation of expression quantitative trait loci by SVA retrotransposons within the major histocompatibility complex

主要组织相容性复合体中SVA逆转录转座子对表达数量性状基因座的调控

Kulski, Jerzy K; Pfaff, Abigail L; Marney, Luke D; Fröhlich, Alexander; Bubb, Vivien J; Quinn, John P; Koks, Sulev

Transcriptomic profiling of cerebrospinal fluid identifies ALS pathway enrichment and RNA biomarkers in MND individuals

脑脊液转录组分析可识别 MND 患者中 ALS 通路富集和 RNA 生物标志物

Fröhlich, Alexander; Pfaff, Abigail L; Bubb, Vivien J; Quinn, John P; Koks, Sulev