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

Huntington's disease LIG1 modifier variant increases ligase fidelity and suppresses somatic CAG repeat expansion

亨廷顿病 LIG1 修饰基因变体可提高连接酶的保真度并抑制体细胞 CAG 重复序列扩增。

Lee, Eunhye; Kim, Wonju; Beier, David H; Lee, Yejin; Kovalenko, Marina; Saif, Faaiza; Oliver, Esaria; Srinageshwar, Bhairavi; Murtha, Ryan; Andrew, Marissa A; Jiang, Andrew; Gillis, Tammy; Demelo, Brigitte; Ruliera, Jayla; Lucente, Diane; Kwak, Seung; Lee, Ramee; Pinto, Ricardo Mouro; MacDonald, Marcy E; Gusella, James F; O'Brien, Patrick J; Wheeler, Vanessa C; Seong, Ihn Sik

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

Significant underascertainment in Huntington's disease

亨廷顿病存在严重的漏诊现象

Lee, Sujin; Weisburd, Ben; Lee, Jiwoo; Correia, Kevin; Zeng, Sophia; Park, Seri S; Shin, Jun Wan; Choi, Doo Eun; Kim, Kyung-Hee; Jang, Jae-Hyun; Gillis, Tammy; Rehm, Heidi L; Gusella, James F; MacDonald, Marcy E; Lee, Jong-Min

Aberrant recursive splicing in a human disease locus

人类疾病位点中的异常递归剪接

Boone, Philip M; Harripaul, Ricardo; Yadav, Rachita; Grzybowski, Michael; Hanafy, Mahmoud K; Lee, Amanda C; Choi, Esther Y; Collins, Ryan L; Polesskaya, Oksana; Makhortova, Nina; Larson, Matthew O; Kayir, Hakan; Wang, Yizhi; Avila, Rodolfo A; Frie, Jude A; Eed, Amr; Albeely, Abdalla M; Venmuri, Sunitha; Ayoub, Samantha M; Lemanski, John M; Ben-Isvy, Daniel; Zhao, Xuefang; Sanchis-Juan, Alba; Handley, Maris; Erdin, Serkan; de Esch, Celine; Mohajeri, Kiana; Chen, Clementine; Tovar, Paulina Gonzalez; Salani, Monica; Oliveira, Mariana Moyses; Tai, Derek J C; Currall, Benjamin; McGraw, Christopher; Slaughenhaupt, Susan; Doan, Ryan; Gao, Dadi; Gusella, James F; Sanchez-Roige, Sandra; Young, Jared; Khokar, Jibran; Geurts, Aron M; Palmer, Abraham A; Talkowski, Michael E

CRISPR-engineered deletion of POGZ alters transcription factor binding at promoters of genes involved in synaptic signaling

利用 CRISPR 技术删除 POGZ 基因会改变参与突触信号传导的基因启动子处的转录因子结合。

Moyses-Oliveira, Mariana; Liu, Yating; Erdin, Serkan; Gao, Dadi; Bhavsar, Riya; Mohajeri, Kiana; O'Keefe, Kathryn; Boone, Philip M; Xavier, Gabriela; Liao, Calwing; Li, Aiqun; Yadav, Rachita; Salani, Monica; Lucente, Diane; Currall, Benjamin; de Esch, Celine E F; Tai, Derek J C; Ruderfer, Douglas; Brennand, Kristen J; Gusella, James F; Talkowski, Michael E

Huntington's disease LIG1 modifier variant increases ligase fidelity and suppresses somatic CAG repeat expansion.

亨廷顿病 LIG1 修饰变体可提高连接酶的保真度并抑制体细胞 CAG 重复扩增

Lee Eunhye, Kim Wonju, Beier David H, Lee Yejin, Kovalenko Marina, Saif Faaiza, Oliver Esaria, Murtha Ryan, Andrew Marissa A, Gillis Tammy, Demelo Brigitte, Srinageshwar Bhairavi, Ruliera Jayla, Lucente Diane, Kwak Seung, Lee Ramee, Pinto Ricardo Mouro, MacDonald Marcy E, Gusella James F, O'Brien Patrick J, Wheeler Vanessa C, Seong Ihn Sik

Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models

小鼠脑和人类神经元模型中16p11.2相互基因组紊乱的组织和细胞类型特异性分子和功能特征

Tai, Derek J C; Razaz, Parisa; Erdin, Serkan; Gao, Dadi; Wang, Jennifer; Nuttle, Xander; de Esch, Celine E; Collins, Ryan L; Currall, Benjamin B; O'Keefe, Kathryn; Burt, Nicholas D; Yadav, Rachita; Wang, Lily; Mohajeri, Kiana; Aneichyk, Tatsiana; Ragavendran, Ashok; Stortchevoi, Alexei; Morini, Elisabetta; Ma, Weiyuan; Lucente, Diane; Hastie, Alex; Kelleher, Raymond J; Perlis, Roy H; Talkowski, Michael E; Gusella, James F

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

Single nuclei RNA-seq reveals a medium spiny neuron glutamate excitotoxicity signature prior to the onset of neuronal death in an ovine Huntington's disease model

单核RNA测序揭示了绵羊亨廷顿病模型中,中型棘状神经元在神经元死亡发生之前存在谷氨酸兴奋性毒性特征。

Jiang, Andrew; You, Linya; Handley, Renee R; Hawkins, Victoria; Reid, Suzanne J; Jacobsen, Jessie C; Patassini, Stefano; Rudiger, Skye R; Mclaughlan, Clive J; Kelly, Jennifer M; Verma, Paul J; Bawden, C Simon; Gusella, James F; MacDonald, Marcy E; Waldvogel, Henry J; Faull, Richard L M; Lehnert, Klaus; Snell, Russell G

Genetic modifiers of somatic expansion and clinical phenotypes in Huntington's disease reveal shared and tissue-specific effects

亨廷顿病体细胞扩增和临床表型的遗传修饰因子揭示了共同的和组织特异性的影响。

Lee, Jong-Min; McLean, Zachariah L; Correia, Kevin; Shin, Jun Wan; Lee, Sujin; Jang, Jae-Hyun; Lee, Yukyeong; Kim, Kyung-Hee; Choi, Doo Eun; Long, Jeffrey D; Lucente, Diane; Seong, Ihn Sik; Pinto, Ricardo Mouro; Giordano, James V; Mysore, Jayalakshmi S; Siciliano, Jacqueline; Elezi, Emanuela; Ruliera, Jayla; Gillis, Tammy; Wheeler, Vanessa C; MacDonald, Marcy E; Gusella, James F; Gatseva, Anna; Ciosi, Marc; Lomeikaite, Vilija; Loay, Hossameldin; Monckton, Darren G; Wills, Christopher; Massey, Thomas H; Jones, Lesley; Holmans, Peter; Kwak, Seung; Sampaio, Cristina; Orth, Michael; Bernhard Landwehrmeyer, G; Paulsen, Jane S; Ray Dorsey, E; Myers, Richard H