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

ParSE-seq: a calibrated multiplexed assay to facilitate the clinical classification of putative splice-altering variants

ParSE-seq:一种经过校准的多重检测方法,用于对假定的剪接变异进行临床分类

Matthew J O'Neill, Tao Yang, Julie Laudeman, Maria E Calandranis, M Lorena Harvey, Joseph F Solus, Dan M Roden #, Andrew M Glazer #

Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis

TCL1A的异常激活促进克隆性造血中的干细胞扩增

Joshua S Weinstock #,Jayakrishnan Gopakumar #,Bala Bharathi Burugula,Md Mesbah Uddin,Nikolaus Jahn,Julia A Belk,Hind Bouzid,Bence Daniel,Zhuang Miao,Nghi Ly,Taralynn M Mack,Sofia E Luna,Katherine P Prothro,Shaneice R Mitchell,Cecelia A Laurie,Lisa R Yanek,Lewis C Becker,Sharon L R Kardia,Patricia A Peyser,Jiang He,Michiel Rienstra,Pim Van der Harst,Robert Kaplan,Susan R Heckbert,Nicholas L Smith,Kerri L Wiggins,Donna K Arnett,Marguerite R Irvin,Hemant Tiwari,Michael J Cutler,Stacey Knight,J Brent Muhlestein,Adolfo Correa,Laura M Raffield,Yan Gao,Mariza de Andrade,Jerome I Rotter,Stephen S Rich,Russell P Tracy,Barbara A Konkle,Jill M Johnsen,Marsha M Wheeler,J Gustav Smith,Olle Melander,Peter M Nilsson,Brian S Custer,Ravindranath Duggirala,Joanne E Curran,John Blangero,Stephen McGarvey,L Keoki Williams,Shujie Xiao,Mao Yang,C Charles Gu,Yii-Der Ida Chen,Gregory M Marcus,John P Kane,Clive R Pullinger,M Benjamin Shoemaker,Dawood Darbar,Dan M Roden,Christine Albert,Charles Kooperberg,Ying Zhou,JoAnn E Manson,Pinkal Desai,Andrew D Johnson,Rasika A Mathias,Albert V Smith,Hyun M Kang,Ansuman T Satpathy,Pradeep Natarajan,Jacob O Kitzman,Eric A Whitsel,Alexander P Reiner,Alexander G Bick,Siddhartha Jaiswal

ParSE-seq: A Calibrated Multiplexed Assay to Facilitate the Clinical Classification of Putative Splice-altering Variants

ParSE-seq:一种经过校准的多重检测方法,用于促进假定剪接变异的临床分类

Matthew J O'Neill, Tao Yang, Julie Laudeman, Maria Calandranis, Joseph Solus, Dan M Roden, Andrew M Glazer

Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants

个性化结构生物学揭示了由新生KCNC2变异引起的异质性癫痫表型的分子机制

Souhrid Mukherjee ,Thomas A Cassini ,Ningning Hu ,Tao Yang ,Bian Li ,Wangzhen Shen ,Christopher W Moth ,David C Rinker ,Jonathan H Sheehan ,Joy D Cogan ,Rizwan Hamid ,Robert L Macdonald ,Dan M Roden ,Jens Meiler ,Georg Kuenze ,John A Phillips ,John A Capra

High-Throughput Reclassification of SCN5A Variants

SCN5A 变体的高通量重新分类

Andrew M Glazer, Yuko Wada, Bian Li, Ayesha Muhammad, Olivia R Kalash, Matthew J O'Neill, Tiffany Shields, Lynn Hall, Laura Short, Marcia A Blair, Brett M Kroncke, John A Capra, Dan M Roden

Real-time visualization of titin dynamics reveals extensive reversible photobleaching in human induced pluripotent stem cell-derived cardiomyocytes

肌联蛋白动态的实时可视化揭示了人类诱导多能干细胞衍生的心肌细胞中广泛的可逆光漂白

Adrian G Cadar, Tromondae K Feaster, Kevin R Bersell, Lili Wang, TingTing Hong, Joseph A Balsamo, Zhentao Zhang, Young Wook Chun, Young-Jae Nam, Michael Gotthardt, Björn C Knollmann, Dan M Roden, Chee C Lim, Charles C Hong

GRIK5 Genetically Regulated Expression Associated with Eye and Vascular Phenomes: Discovery through Iteration among Biobanks, Electronic Health Records, and Zebrafish

与眼部和血管表型相关的 GRIK5 基因调控表达:通过生物库、电子健康记录和斑马鱼之间的迭代发现

Gokhan Unlu, Eric R Gamazon, Xinzi Qi, Daniel S Levic, Lisa Bastarache, Joshua C Denny, Dan M Roden, Ilya Mayzus, Max Breyer, Xue Zhong, Anuar I Konkashbaev, Andrey Rzhetsky, Ela W Knapik, Nancy J Cox

Kcnj11 Ablation Is Associated With Increased Nitro-Oxidative Stress During Ischemia-Reperfusion Injury: Implications for Human Ischemic Cardiomyopathy

Kcnj11 消融与缺血再灌注损伤期间硝基氧化应激增加有关:对人类缺血性心肌病的影响

Bo Zhang, Tatiana Novitskaya, Debra G Wheeler, Zhaobin Xu, Elena Chepurko, Ryan Huttinger, Heng He, Saradhadevi Varadharaj, Jay L Zweier, Yanna Song, Meng Xu, Frank E Harrell Jr, Yan Ru Su, Tarek Absi, Mark J Kohr, Mark T Ziolo, Dan M Roden, Christian M Shaffer, Cristi L Galindo, Quinn S Wells, Rich

KCNE1 induces fenestration in the Kv7.1/KCNE1 channel complex that allows for highly specific pharmacological targeting

KCNE1 诱导 Kv7.1/KCNE1 通道复合物的开窗,从而实现高度特异性的药物靶向作用

Eva Wrobel, Ina Rothenberg, Christoph Krisp, Franziska Hundt, Benjamin Fraenzel, Karina Eckey, Joannes T M Linders, David J Gallacher, Rob Towart, Lutz Pott, Michael Pusch, Tao Yang, Dan M Roden, Harley T Kurata, Eric Schulze-Bahr, Nathalie Strutz-Seebohm, Dirk Wolters, Guiscard Seebohm0

Transcription factor ETV1 is essential for rapid conduction in the heart

转录因子 ETV1 对心脏快速传导至关重要

Akshay Shekhar, Xianming Lin, Fang-Yu Liu, Jie Zhang, Huan Mo, Lisa Bastarache, Joshua C Denny, Nancy J Cox, Mario Delmar, Dan M Roden, Glenn I Fishman, David S Park