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

TRACE: Open-Source Software for Quantifying Somatic Variation of Tandem Repeats by Capillary Electrophoresis

TRACE:用于通过毛细管电泳定量串联重复序列体细胞变异的开源软件

Jiang, Andrew; Correia, Kevin; Gillis, Tammy; Oliver, Esaria L; Jones, Benjamin P; McAllister, Branduff; Maza, Alan Mejia; MacDonald, Marcy E; Pinto, Ricardo Mouro; Wheeler, Vanessa C; Gusella, James F; McLean, Zachariah L

Modification of Huntington's disease by short tandem repeats

短串联重复序列对亨廷顿病的影响

Hong, Eun Pyo; Ramos, Eliana Marisa; Aziz, N Ahmad; Massey, Thomas H; McAllister, Branduff; Lobanov, Sergey; Jones, Lesley; Holmans, Peter; Kwak, Seung; Orth, Michael; Ciosi, Marc; Lomeikaite, Vilija; Monckton, Darren G; Long, Jeffrey D; Lucente, Diane; Wheeler, Vanessa C; Gillis, Tammy; MacDonald, Marcy E; Sequeiros, Jorge; Gusella, James F; Lee, Jong-Min

Posttranscriptional regulation of FAN1 by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington's disease

miR-124-3p 在 rs3512 位点对 FAN1 的转录后调控是延缓亨廷顿舞蹈症发病的基因修饰的基础

Kyung-Hee Kim, Eun Pyo Hong, Yukyeong Lee, Zachariah L McLean, Emanuela Elezi, Ramee Lee, Seung Kwak, Branduff McAllister, Thomas H Massey, Sergey Lobanov, Peter Holmans, Michael Orth, Marc Ciosi, Darren G Monckton, Jeffrey D Long, Diane Lucente, Vanessa C Wheeler, Marcy E MacDonald, James F Gusella

Mutant huntingtin confers cell-autonomous phenotypes on Huntington's disease iPSC-derived microglia

突变型亨廷顿蛋白赋予亨廷顿病诱导多能干细胞衍生的小胶质细胞细胞自主表型

Nina Stöberl ,Jasmine Donaldson ,Caroline S Binda ,Branduff McAllister ,Hazel Hall-Roberts ,Lesley Jones ,Thomas H Massey ,Nicholas D Allen

Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset

亨廷顿氏病患者的外显子组测序表明 FAN1 核酸酶活性可减缓 CAG 扩增和疾病发作

Branduff McAllister #, Jasmine Donaldson #, Caroline S Binda, Sophie Powell, Uroosa Chughtai, Gareth Edwards, Joseph Stone, Sergey Lobanov, Linda Elliston, Laura-Nadine Schuhmacher, Elliott Rees, Georgina Menzies, Marc Ciosi, Alastair Maxwell, Michael J Chao, Eun Pyo Hong, Diane Lucente, Vanessa Whe

Genetic modifiers of Huntington disease differentially influence motor and cognitive domains

亨廷顿病的遗传修饰因子对运动和认知领域的影响各不相同。

Lee, Jong-Min; Huang, Yuan; Orth, Michael; Gillis, Tammy; Siciliano, Jacqueline; Hong, Eunpyo; Mysore, Jayalakshmi Srinidhi; Lucente, Diane; Wheeler, Vanessa C; Seong, Ihn Sik; McLean, Zachariah L; Mills, James A; McAllister, Branduff; Lobanov, Sergey V; Massey, Thomas H; Ciosi, Marc; Landwehrmeyer, G Bernhard; Paulsen, Jane S; Dorsey, E Ray; Shoulson, Ira; Sampaio, Cristina; Monckton, Darren G; Kwak, Seung; Holmans, Peter; Jones, Lesley; MacDonald, Marcy E; Long, Jeffrey D; Gusella, James F

Huntington's disease age at motor onset is modified by the tandem hexamer repeat in TCERG1

亨廷顿病运动症状的发病年龄受TCERG1基因串联六聚体重复序列的影响

Lobanov, Sergey V; McAllister, Branduff; McDade-Kumar, Mia; Landwehrmeyer, G Bernhard; Orth, Michael; Rosser, Anne E; Paulsen, Jane S; Lee, Jong-Min; MacDonald, Marcy E; Gusella, James F; Long, Jeffrey D; Ryten, Mina; Williams, Nigel M; Holmans, Peter; Massey, Thomas H; Jones, Lesley

Repeat Detector: versatile sizing of expanded tandem repeats and identification of interrupted alleles from targeted DNA sequencing

重复序列检测器:可灵活测定扩增串联重复序列的大小,并能从靶向DNA测序中识别中断等位基因

Taylor, Alysha S; Barros, Dinis; Gobet, Nastassia; Schuepbach, Thierry; McAllister, Branduff; Aeschbach, Lorene; Randall, Emma L; Trofimenko, Evgeniya; Heuchan, Eleanor R; Barszcz, Paula; Ciosi, Marc; Morgan, Joanne; Hafford-Tear, Nathaniel J; Davidson, Alice E; Massey, Thomas H; Monckton, Darren G; Jones, Lesley; Network, Registry Investigators Of The European Huntington's Disease; Xenarios, Ioannis; Dion, Vincent

Timing and Impact of Psychiatric, Cognitive, and Motor Abnormalities in Huntington Disease

亨廷顿病中精神、认知和运动异常的发生时间和影响

McAllister, Branduff; Gusella, James F; Landwehrmeyer, G Bernhard; Lee, Jong-Min; MacDonald, Marcy E; Orth, Michael; Rosser, Anne E; Williams, Nigel M; Holmans, Peter; Jones, Lesley; Massey, Thomas H

Association Analysis of Chromosome X to Identify Genetic Modifiers of Huntington's Disease

利用X染色体关联分析识别亨廷顿病的遗传修饰因子

Hong, Eun Pyo; Chao, Michael J; Massey, Thomas; McAllister, Branduff; Lobanov, Sergey; Jones, Lesley; Holmans, Peter; Kwak, Seung; Orth, Michael; Ciosi, Marc; Monckton, Darren G; Long, Jeffrey D; Lucente, Diane; Wheeler, Vanessa C; MacDonald, Marcy E; Gusella, James F; Lee, Jong-Min