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

Comparison of variant callers using 60 532 multi-ancestry whole genome sequences

利用 60532 个多祖先全基因组序列对变异检测器进行比较

Zhou, Hufeng; Li, Zilin; Shyr, Derek; Li, Xihao; Yang, Haoyu; Dey, Rounak; Tang, Yushi; Maier, Robert; Boerwinkle, Eric; Buyske, Steve; Daly, Mark; Felsenfeld, Adam; Gibbs, Richard A; Gupta, Namrata; Hall, Ira M; Matise, Tara; Metcalf, Ginger A; Smith, Albert; Reeves, Catherine; Sofia, Heidi J; Stitziel, Nathan O; Zody, Michael C; Neale, Benjamin; Lin, Xihong

A FAN1 point mutation associated with accelerated Huntington's disease progression alters its PCNA-mediated assembly on DNA

与亨廷顿病进展加速相关的FAN1基因点突变会改变其在DNA上通过PCNA介导的组装。

Aretz, Jonas; Jeyasankar, Gayathri; Salerno-Kochan, Anna; Thomsen, Maren; Thieulin-Pardo, Gabriel; Haque, Tasir; Monteagudo, Edith; Felsenfeld, Dan; Finley, Michael; Vogt, Thomas F; Boudet, Julien; Prasad, Brinda C

Author Correction: Huntington's disease cellular phenotypes are rescued non-cell autonomously by healthy cells in mosaic telencephalic organoids

作者更正:亨廷顿病细胞表型可通过嵌合型端脑类器官中的健康细胞以非细胞自主的方式得到挽救。

Galimberti, Maura; Nucera, Maria R; Bocchi, Vittoria D; Conforti, Paola; Vezzoli, Elena; Cereda, Matteo; Maffezzini, Camilla; Iennaco, Raffaele; Scolz, Andrea; Falqui, Andrea; Cordiglieri, Chiara; Cremona, Martina; Espuny-Camacho, Ira; Faedo, Andrea; Felsenfeld, Dan P; Vogt, Thomas F; Ranzani, Valeria; Zuccato, Chiara; Besusso, Dario; Cattaneo, Elena

Elucidation of multiple high-resolution states of human MutSβ by cryo-EM reveals interplay between ATP/ADP binding and heteroduplex DNA recognition.

通过冷冻电镜阐明人类 MutSβ 的多个高分辨率状态,揭示了 ATP/ADP 结合和异源双链 DNA 识别之间的相互作用

Lee Jung-Hoon, Thomsen Maren, Daub Herwin, Thieulin-Pardo Gabriel, Steinbacher Stefan, Sztyler Agnieszka, Dahiya Vinay, Neudegger Tobias, Dominguez Celia, Iyer Ravi R, Wilkinson Hilary A, Monteagudo Edith, Plotnikov Nikolay V, Felsenfeld Dan P, Haque Tasir S, Finley Michael, Boudet Julien, Vogt Thomas F, Prasad Brinda C

Intersecting impact of CAG repeat and huntingtin knockout in stem cell-derived cortical neurons.

CAG 重复序列和亨廷顿蛋白敲除对干细胞衍生皮层神经元的交叉影响。

Stocksdale Jennifer T, Leventhal Matthew J, Lam Stephanie, Xu Yu-Xin, Wang Yang Oliver, Wang Keona Q, Thomas Reuben, Faghihmonzavi Zohreh, Raghav Yogindra, Smith Charlene, Wu Jie, Miramontes Ricardo, Sarda Kanchan, Johnston Heather, Shin Min-Gyoung, Huang Terry, Foster Mikelle, Barch Mariya, Amirani Naufa, Paiz Chris, Easter Lindsay, Duderstadt Erse, Vaibhav Vineet, Sundararaman Niveda, Felsenfeld Dan P, Vogt Thomas F, Van Eyk Jennifer, Finkbeiner Steve, Kaye Julia A, Fraenkel Ernest, Thompson Leslie M

RNA Pol-II transcripts in nucleolar associated domains of cancer cell nucleoli

癌细胞核仁核仁相关域中的 RNA Pol-II 转录本

Soumya Roy Chowdhury, Arunima Shilpi, Gary Felsenfeld

Huntington's disease cellular phenotypes are rescued non-cell autonomously by healthy cells in mosaic telencephalic organoids

亨廷顿病细胞表型可通过嵌合型端脑类器官中的健康细胞以非细胞自主的方式得到挽救。

Maura Galimberti ,Maria R Nucera ,Vittoria D Bocchi ,Paola Conforti ,Elena Vezzoli ,Matteo Cereda ,Camilla Maffezzini ,Raffaele Iennaco ,Andrea Scolz ,Andrea Falqui ,Chiara Cordiglieri ,Martina Cremona ,Ira Espuny-Camacho ,Andrea Faedo ,Dan P Felsenfeld ,Thomas F Vogt ,Valeria Ranzani ,Chiara Zuccato ,Dario Besusso ,Elena Cattaneo

Accounting for White Matter Uptake Improves Between‐Tracer Agreement in Amyloid PET

考虑白质摄取可提高淀粉样蛋白PET显像剂间的一致性

Preston, Jonathan L; Molfese, Peter J; Mencl, W Einar; Frost, Stephen J; Hoeft, Fumiko; Fulbright, Robert K; Landi, Nicole; Grigorenko, Elena L; Seki, Ayumi; Felsenfeld, Susan; Pugh, Kenneth R; Chen, Yinghua; Protas, Hillary D; Luo, Ji; Li, Shan; Sohankar, Javad; Ghisays, Valentina; Lee, Wendy; Wu, Teresa; Reiman, Eric M; Chen, Kewei; Su, Yi

The Myc-associated zinc finger protein epigenetically controls expression of interferon-γ-stimulated genes by recruiting STAT1 to chromatin

Myc 相关锌指蛋白通过募集 STAT1 到染色质表观遗传控制干扰素 γ 刺激基因的表达

Tiaojiang Xiao, Xin Li, Gary Felsenfeld

FAVOR: functional annotation of variants online resource and annotator for variation across the human genome

FAVOR:人类基因组变异功能注释在线资源和注释工具

Zhou, Hufeng; Arapoglou, Theodore; Li, Xihao; Li, Zilin; Zheng, Xiuwen; Moore, Jill; Asok, Abhijith; Kumar, Sushant; Blue, Elizabeth E; Buyske, Steven; Cox, Nancy; Felsenfeld, Adam; Gerstein, Mark; Kenny, Eimear; Li, Bingshan; Matise, Tara; Philippakis, Anthony; Rehm, Heidi L; Sofia, Heidi J; Snyder, Grace; Weng, Zhiping; Neale, Benjamin; Sunyaev, Shamil R; Lin, Xihong