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

Targeted phasing of 2-200 kilobase DNA fragments with a short-read sequencer and a single-tube linked-read library method

使用短读测序仪和单管链接读文库方法对 2-200 千碱基 DNA 片段进行靶向定相

Veronika Mikhaylova #, Madison Rzepka #, Tetsuya Kawamura #, Yu Xia #, Peter L Chang, Shiguo Zhou, Amber Paasch, Long Pham, Naisarg Modi, Likun Yao, Adrian Perez-Agustin, Sara Pagans, T Christian Boles, Ming Lei, Yong Wang, Ivan Garcia-Bassets, Zhoutao Chen

Unexpected complexity in the molecular diagnosis of spastic paraplegia 11

痉挛性截瘫分子诊断中意想不到的复杂性 11

Mademont-Soler, Irene; Esteba-Castillo, Susanna; Jiménez-Xifra, Aida; Alemany, Berta; Ribas-Vidal, Núria; Cutillas, Maria; Coll, Mònica; Pinsach, Mel Lina; Pagans, Sara; Alcalde, Mireia; Viñas-Jornet, Marina; Montero-Vale, Mercedes; de Castro-Miró, Marta; Rodríguez, Jairo; Armengol, Lluís; Queralt, Xavier; Obón, María

Targeted Phasing of 2-200 Kilobase DNA Fragments with a Short-Read Sequencer and a Single-Tube Linked-Read Library Method

使用短读测序仪和单管链接读文库方法对 2-200 千碱基 DNA 片段进行靶向定相

Veronika Mikhaylova, Madison Rzepka, Tetsuya Kawamura, Yu Xia, Peter L Chang, Shiguo Zhou, Long Pham, Naisarg Modi, Likun Yao, Adrian Perez-Agustin, Sara Pagans, T Christian Boles, Ming Lei, Yong Wang, Ivan Garcia-Bassets, Zhoutao Chen

Analysis of Brugada syndrome loci reveals that fine-mapping clustered GWAS hits enhances the annotation of disease-relevant variants

对布鲁加达综合征基因座的分析表明,精细定位聚集的 GWAS 靶点可以增强对疾病相关变异的注释。

Pinsach-Abuin, Mel Lina; Del Olmo, Bernat; Pérez-Agustin, Adrian; Mates, Jesus; Allegue, Catarina; Iglesias, Anna; Ma, Qi; Merkurjev, Daria; Konovalov, Sergiy; Zhang, Jing; Sheikh, Farah; Telenti, Amalio; Brugada, Josep; Brugada, Ramon; Gymrek, Melissa; di Iulio, Julia; Garcia-Bassets, Ivan; Pagans, Sara

Epigenetic Changes Governing Scn5a Expression in Denervated Skeletal Muscle

表观遗传变化控制失神经骨骼肌中的 Scn5a 表达

David Carreras, Rebecca Martinez-Moreno, Mel Lina Pinsach-Abuin, Manel M Santafe, Pol Gomà, Ramon Brugada, Fabiana S Scornik, Guillermo J Pérez, Sara Pagans

Role of Non-Coding Variants in Brugada Syndrome

非编码变异在布鲁加达综合征中的作用

Pérez-Agustín, Adrian; Pinsach-Abuin, Mel Lina; Pagans, Sara

SMYD2-Mediated Histone Methylation Contributes to HIV-1 Latency

SMYD2介导的组蛋白甲基化有助于HIV-1潜伏

Daniela Boehm ,Mark Jeng ,Gregory Camus ,Andrea Gramatica ,Roland Schwarzer ,Jeffrey R Johnson ,Philip A Hull ,Mauricio Montano ,Naoki Sakane ,Sara Pagans ,Robert Godin ,Steven G Deeks ,Nevan J Krogan ,Warner C Greene ,Melanie Ott

Do sodium channel proteolytic fragments regulate sodium channel expression?

钠通道蛋白水解片段是否调节钠通道表达?

Donatus O Onwuli, Laia Yañez-Bisbe, Mel Lina Pinsach-Abuin, Anna Tarradas, Ramon Brugada, John Greenman, Sara Pagans, Pedro Beltran-Alvarez

The HIV-1 Tat Protein Is Monomethylated at Lysine 71 by the Lysine Methyltransferase KMT7

HIV-1 Tat 蛋白在赖氨酸 71 位点被赖氨酸甲基转移酶 KMT7 单甲基化

Ibraheem Ali, Holly Ramage, Daniela Boehm, Lynnette M A Dirk, Naoki Sakane, Kazuki Hanada, Sara Pagans, Katrin Kaehlcke, Katherine Aull, Leor Weinberger, Raymond Trievel, Martina Schnoelzer, Masafumi Kamada, Robert Houtz, Melanie Ott

Activation of HIV transcription by the viral Tat protein requires a demethylation step mediated by lysine-specific demethylase 1 (LSD1/KDM1)

病毒 Tat 蛋白激活 HIV 转录需要由赖氨酸特异性去甲基化酶 1 (LSD1/KDM1) 介导的去甲基化步骤

Naoki Sakane, Hye-Sook Kwon, Sara Pagans, Katrin Kaehlcke, Yasuhiro Mizusawa, Masafumi Kamada, Kara G Lassen, Jonathan Chan, Warner C Greene, Martina Schnoelzer, Melanie Ott