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

GGC repeat expansions within new open reading frames are translated into toxic polyglycine proteins in oculopharyngodistal myopathy.

在眼咽远端肌病中,新的开放阅读框内的 GGC 重复扩增被翻译成有毒的聚甘氨酸蛋白。

Boivin Manon, Yu Jiaxi, Eura Nobuyuki, Schmitt Léa, Pietri David, Grandgirard Erwan, Goetz-Reiner Patrice, Plassard Damien, Nahy Chadia, Maglott Anne, Morlet Bastien, Gao Chao, Lefebvre Elise, Philipps Muriel, Eberling Pascal, Pichot Angélique, Rossolillo Paola, Thibault Christelle, Oulad-Abdelghani Mustapha, Nishino Ichizo, Yang Kang, Wang Ning, Wang Zhaoxia, Deng Jianwen, Charlet-Berguerand Nicolas

Cell-based cccDNA reporter assay combined with functional genomics identifies YBX1 as HBV cccDNA host factor and antiviral candidate target

基于细胞的cccDNA报告基因检测结合功能基因组学,鉴定出YBX1是HBV cccDNA宿主因子和抗病毒候选靶点。

Verrier, Eloi R; Ligat, Gaëtan; Heydmann, Laura; Doernbrack, Katharina; Miller, Julija; Maglott-Roth, Anne; Jühling, Frank; El Saghire, Houssein; Heuschkel, Margaux J; Fujiwara, Naoto; Hsieh, Sen-Yung; Hoshida, Yujin; Root, David E; Felli, Emanuele; Pessaux, Patrick; Mukherji, Atish; Mailly, Laurent; Schuster, Catherine; Brino, Laurent; Nassal, Michael; Baumert, Thomas F

ClinVar: improvements to accessing data

ClinVar:改进数据访问方式

Landrum, Melissa J; Chitipiralla, Shanmuga; Brown, Garth R; Chen, Chao; Gu, Baoshan; Hart, Jennifer; Hoffman, Douglas; Jang, Wonhee; Kaur, Kuljeet; Liu, Chunlei; Lyoshin, Vitaly; Maddipatla, Zenith; Maiti, Rama; Mitchell, Joseph; O'Leary, Nuala; Riley, George R; Shi, Wenyao; Zhou, George; Schneider, Valerie; Maglott, Donna; Holmes, J Bradley; Kattman, Brandi L

Influence of skill level on predicting the success of one's own basketball free throws

技术水平对预测自身篮球罚球命中率的影响

Maglott, Jonathan C; Chiasson, David; Shull, Peter B

ClinVar: improving access to variant interpretations and supporting evidence

ClinVar:改善变异解读和支持证据的获取

Landrum, Melissa J; Lee, Jennifer M; Benson, Mark; Brown, Garth R; Chao, Chen; Chitipiralla, Shanmuga; Gu, Baoshan; Hart, Jennifer; Hoffman, Douglas; Jang, Wonhee; Karapetyan, Karen; Katz, Kenneth; Liu, Chunlei; Maddipatla, Zenith; Malheiro, Adriana; McDaniel, Kurt; Ovetsky, Michael; Riley, George; Zhou, George; Holmes, J Bradley; Kattman, Brandi L; Maglott, Donna R

EPIGENOMICS OF AGING IN VERTEBRATES

脊椎动物衰老的表观基因组学

Sayers, Eric W; Barrett, Tanya; Benson, Dennis A; Bolton, Evan; Bryant, Stephen H; Canese, Kathi; Chetvernin, Vyacheslav; Church, Deanna M; DiCuccio, Michael; Federhen, Scott; Feolo, Michael; Fingerman, Ian M; Geer, Lewis Y; Helmberg, Wolfgang; Kapustin, Yuri; Landsman, David; Lipman, David J; Lu, Zhiyong; Madden, Thomas L; Madej, Tom; Maglott, Donna R; Marchler-Bauer, Aron; Miller, Vadim; Mizrachi, Ilene; Ostell, James; Panchenko, Anna; Phan, Lon; Pruitt, Kim D; Schuler, Gregory D; Sequeira, Edwin; Sherry, Stephen T; Shumway, Martin; Sirotkin, Karl; Slotta, Douglas; Souvorov, Alexandre; Starchenko, Grigory; Tatusova, Tatiana A; Wagner, Lukas; Wang, Yanli; Wilbur, W John; Yaschenko, Eugene; Ye, Jian; Benayoun, B; Pollina, E A; Brunet, A

Transcription and mRNA export machineries SAGA and TREX-2 maintain monoubiquitinated H2B balance required for DNA repair

转录和mRNA输出机制SAGA和TREX-2维持DNA修复所需的单泛素化H2B平衡。

Federica M Evangelista ,Anne Maglott-Roth ,Matthieu Stierle ,Laurent Brino ,Evi Soutoglou ,László Tora

Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical Settings

规范临床环境中下一代测序变异文件使用的原则和建议

Lubin, Ira M; Aziz, Nazneen; Babb, Lawrence J; Ballinger, Dennis; Bisht, Himani; Church, Deanna M; Cordes, Shaun; Eilbeck, Karen; Hyland, Fiona; Kalman, Lisa; Landrum, Melissa; Lockhart, Edward R; Maglott, Donna; Marth, Gabor; Pfeifer, John D; Rehm, Heidi L; Roy, Somak; Tezak, Zivana; Truty, Rebecca; Ullman-Cullere, Mollie; Voelkerding, Karl V; Worthey, Elizabeth A; Zaranek, Alexander W; Zook, Justin M

ClinVar: public archive of interpretations of clinically relevant variants

ClinVar:临床相关变异解读的公共档案库

Landrum, Melissa J; Lee, Jennifer M; Benson, Mark; Brown, Garth; Chao, Chen; Chitipiralla, Shanmuga; Gu, Baoshan; Hart, Jennifer; Hoffman, Douglas; Hoover, Jeffrey; Jang, Wonhee; Katz, Kenneth; Ovetsky, Michael; Riley, George; Sethi, Amanjeev; Tully, Ray; Villamarin-Salomon, Ricardo; Rubinstein, Wendy; Maglott, Donna R

Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation

NCBI参考序列(RefSeq)数据库:现状、分类扩展和功能注释

O'Leary, Nuala A; Wright, Mathew W; Brister, J Rodney; Ciufo, Stacy; Haddad, Diana; McVeigh, Rich; Rajput, Bhanu; Robbertse, Barbara; Smith-White, Brian; Ako-Adjei, Danso; Astashyn, Alexander; Badretdin, Azat; Bao, Yiming; Blinkova, Olga; Brover, Vyacheslav; Chetvernin, Vyacheslav; Choi, Jinna; Cox, Eric; Ermolaeva, Olga; Farrell, Catherine M; Goldfarb, Tamara; Gupta, Tripti; Haft, Daniel; Hatcher, Eneida; Hlavina, Wratko; Joardar, Vinita S; Kodali, Vamsi K; Li, Wenjun; Maglott, Donna; Masterson, Patrick; McGarvey, Kelly M; Murphy, Michael R; O'Neill, Kathleen; Pujar, Shashikant; Rangwala, Sanjida H; Rausch, Daniel; Riddick, Lillian D; Schoch, Conrad; Shkeda, Andrei; Storz, Susan S; Sun, Hanzhen; Thibaud-Nissen, Francoise; Tolstoy, Igor; Tully, Raymond E; Vatsan, Anjana R; Wallin, Craig; Webb, David; Wu, Wendy; Landrum, Melissa J; Kimchi, Avi; Tatusova, Tatiana; DiCuccio, Michael; Kitts, Paul; Murphy, Terence D; Pruitt, Kim D