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

Exercise FITT-V during pregnancy: dose-dependent reduction in infant cellular lipid content and whole body fat

孕期进行FITT-V运动:婴儿细胞脂质含量和全身脂肪含量呈剂量依赖性降低

Claiborne, Alex; Jevtovic, Filip; Biagioni, Ericka M; Rossa, Lindsey; Ollmann, Caitlyn; Zheng, Donghai; Strom, Cody; Wisseman, Breanna; McDonald, Samantha; Newton, Edward; Mouro, Steven; deVente, James; Kelley, George A; Houmard, Joseph A; Broskey, Nicholas T; May, Linda E

Exercise FITT-V in pregnancy with obesity: Preliminary findings for infant adiposity and intergenerational obesity risk

FITT-V运动在肥胖孕妇中的应用:对婴儿肥胖和代际肥胖风险的初步研究结果

Claiborne, Alex; Jevtovic, Filip; Biagioni, Ericka M; Rossa, Lindsey; Ollmann, Caitlyn; Zheng, Donghai; Strom, Cody; Wisseman, Breanna; McDonald, Samantha; Newton, Edward; Mouro, Steven; DeVente, James; Kelley, George A; Houmard, Joseph A; Broskey, Nicholas T; May, Linda E

Challenges in umbilical pathology: far beyond the obvious-a case report

脐部病理学的挑战:远超表面所见——病例报告

Martins, Mariana Salomé Pereira; Miranda, Diogo; Mouro, Ana Filipa; Oliveira, Catarina; Cardoso, Joana; Monteiro, Sara

Transcriptomic profiling uncovers mis-splicing and gene fusions in amyotrophic lateral sclerosis

转录组分析揭示肌萎缩侧索硬化症中的错误剪接和基因融合

Xu, Huilin; Petrozziello, Tiziana; Boudi, Adel; Shibata, Shota; Huntress, Sommer S; Shahryari, Alireza; Zhao, Xuefang; Kesavan, Maheswaran; Granucci, Eric J; Castillo Torres, Ayleen L; Monsanto, Ranee Zara B; Lemanski, John; Jana, Bimal; De Esch, Celin E F; Cudkowicz, Merit E; Berry, James D; Brand, Harrison; Talkowski, Michael E; Mouro Pinto, Ricardo; Gao, Dadi; Sadri-Vakili, Ghazaleh

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

Polyglycine-mediated aggregation of FAM98B disrupts tRNA processing in GGC repeat disorders

聚甘氨酸介导的FAM98B聚集会破坏GGC重复序列疾病中的tRNA加工。

Yang, Jason; Xu, Yunhan; Ziehr, David R; Taylor, Martin S; Valenstein, Max L; Frenkel, Evgeni M; Bush, Jack R; Rutter, Kate; Stevanovski, Igor; Shi, Charlie Y; Kesavan, Maheswaran; Pinto, Ricardo Mouro; Deveson, Ira; Bartel, David P; Sabatini, David M; Chivukula, Raghu R

In vivo CRISPR-Cas9 genome editing in mice identifies genetic modifiers of somatic CAG repeat instability in Huntington's disease

小鼠体内 CRISPR-Cas9 基因组编辑可识别亨廷顿氏病中体细胞 CAG 重复不稳定性基因修饰因子

Ricardo Mouro Pinto, Ryan Murtha, António Azevedo, Cameron Douglas, Marina Kovalenko, Jessica Ulloa, Steven Crescenti, Zoe Burch, Esaria Oliver, Maheswaran Kesavan, Shota Shibata, Antonia Vitalo, Eduarda Mota-Silva, Marion J Riggs, Kevin Correia, Emanuela Elezi, Brigitte Demelo, Jeffrey B Carroll, T

Base editing of trinucleotide repeats that cause Huntington's disease and Friedreich's ataxia reduces somatic repeat expansions in patient cells and in mice

对导致亨廷顿病和弗里德赖希共济失调的三核苷酸重复序列进行碱基编辑,可以减少患者细胞和小鼠体内的体细胞重复序列扩增。

Zaneta Matuszek #,Mandana Arbab #,Maheswaran Kesavan,Alvin Hsu,Jennie C L Roy,Jing Zhao,Tian Yu,Ben Weisburd,Gregory A Newby,Neil J Doherty,Muzhou Wu,Shota Shibata,Ana Cristian,Y Allen Tao,Liam G Fearnley,Melanie Bahlo,Heidi L Rehm,Jun Xie,Guangping Gao,Ricardo Mouro Pinto,David R Liu

The rise of lichens during the colonization of terrestrial environments

陆地环境殖民化过程中地衣的兴起

Becker-Kerber, Bruno; Brocks, Jochen J; Archilha, Nathaly L; Rodella, Cristiane B; Petkov, Valeri; deAzevedo, Eduardo R; Pimentel, Tairine; Garcia, Rodrigo; Petts, Duane; Czas, Janina; Ardakani, Omid H; Chappaz, Anthony; Albuquerque, Ângela; Ortega-Hernández, Javier; Lerosey-Aubril, Rudy; Kipp, Michael A; Johnson, Benjamin; Thoury, Mathieu; Oliveira, Cecilia M A; Pimentel, Hannah H L S M; Freitas, Raul O; Vicentin, Flavio C; Borges, Luiz G F; Almer, Jonathan; Park, Jun-Sang; Polo, Carla C; Kerber, Gilmar; Del Mouro, Lucas; Figueiredo, Milene; Prado, Gustavo M E M; Ahmed, Sharif; Basei, Miguel A S