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

Shared and distinct mechanisms of UBA1 inactivation across different diseases

不同疾病中 UBA1 失活的共同机制和不同机制

Jason C Collins, Samuel J Magaziner, Maya English, Bakar Hassan, Xiang Chen, Nicholas Balanda, Meghan Anderson, Athena Lam, Sebastian Fernandez-Pol, Bernice Kwong, Peter L Greenberg, Benjamin Terrier, Mary E Likhite, Olivier Kosmider, Yan Wang, Nadine L Samara, Kylie J Walters, David B Beck #, Achim

Description of a novel splice site variant in UBA1 gene causing VEXAS syndrome

导致 VEXAS 综合征的 UBA1 基因中新型剪接位点变异的描述

Daniela Ospina Cardona, Ignasi Rodriguez-Pinto, Sonia Iosim, Nuria Bonet, Anna Mensa-Vilaro, Mei-Kay Wong, Gary Ho, Marc Tormo, Jordi Yagüe, Wonwoo Shon, Daniel J Wallace, Ferran Casals, David B Beck, Rachel Abuav, Juan I Arostegui

A ubiquitin-based effector-to-inhibitor switch coordinates early brain, craniofacial, and skin development

基于泛素的效应器到抑制剂的转换协调早期大脑、颅面和皮肤的发育

Anthony J Asmar, Shaun R Abrams #, Jenny Hsin #, Jason C Collins #, Rita M Yazejian #, Youmei Wu, Jean Cho, Andrew D Doyle, Samhitha Cinthala, Marleen Simon, Richard H van Jaarsveld, David B Beck, Laura Kerosuo, Achim Werner

Early activation of inflammatory pathways in UBA1-mutated hematopoietic stem and progenitor cells in VEXAS

VEXAS 中 UBA1 突变的造血干细胞和祖细胞中炎症通路早期激活

Zhijie Wu ,Shouguo Gao ,Qingyan Gao ,Bhavisha A Patel ,Emma M Groarke ,Xingmin Feng ,Ash Lee Manley ,Haoran Li ,Daniela Ospina Cardona ,Sachiko Kajigaya ,Lemlem Alemu ,Diego Quinones Raffo ,Amanda K Ombrello ,Marcela A Ferrada ,Peter C Grayson ,Katherine R Calvo ,Daniel L Kastner ,David B Beck ,Neal S Young

Novel Somatic UBA1 Variant in a Patient With VEXAS Syndrome

VEXAS综合征患者体内发现新型体细胞UBA1变异

Blanka Stiburkova ,Katerina Pavelcova ,Monika Belickova ,Samuel J Magaziner ,Jason C Collins ,Achim Werner ,David B Beck ,Veronika Balajkova ,Cyril Salek ,Martin Vostry ,Herman Mann ,Jiri Vencovsky

Shared and Distinct Mechanisms of UBA1 Inactivation Across Different Diseases

不同疾病中 UBA1 失活的共同机制和不同机制

Jason C Collins, Samuel J Magaziner, Maya English, Bakar Hassan, Xiang Chen, Nicholas Balanda, Meghan Anderson, Athena Lam, Sebastian Fernandez-Pol, Bernice Kwong, Peter L Greenberg, Benjamin Terrier, Mary E Likhite, Olivier Kosmider, Yan Wang, Nadine L Samara, Kylie J Walters, David B Beck, Achim W

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation

OTUD5 的连接特异性去泛素化定义了一种对基因组变异不耐受的胚胎途径

David B Beck, Mohammed A Basar, Anthony J Asmar, Joyce J Thompson, Hirotsugu Oda, Daniela T Uehara, Ken Saida, Sander Pajusalu, Inga Talvik, Precilla D'Souza, Joann Bodurtha, Weiyi Mu, Kristin W Barañano, Noriko Miyake, Raymond Wang, Marlies Kempers, Tomoko Tamada, Yutaka Nishimura, Satoshi Okada, T

Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance

腺苷脱氨酶 2 (DADA2) 缺乏症:隐藏变异、外显率降低和不寻常的遗传

Oskar Schnappauf, Qing Zhou, Natalia Sampaio Moura, Amanda K Ombrello, Drew G Michael, Natalie Deuitch, Karyl Barron, Deborah L Stone, Patrycja Hoffmann, Michael Hershfield, Carolyn Applegate, Hans T Bjornsson, David B Beck, P Dane Witmer, Nara Sobreira, Elizabeth Wohler, John A Chiorini, The Americ

Human iPSC-Derived Neuronal Cells From CTBP1-Mutated Patients Reveal Altered Expression of Neurodevelopmental Gene Networks

CTBP1 突变患者的人类 iPSC 衍生神经元细胞揭示神经发育基因网络表达改变

S Vijayalingam, Uthayashanker R Ezekiel, Fenglian Xu, T Subramanian, Elizabeth Geerling, Brittany Hoelscher, KayKay San, Aravinda Ganapathy, Kyle Pemberton, Eric Tycksen, Amelia K Pinto, James D Brien, David B Beck, Wendy K Chung, Christina A Gurnett, G Chinnadurai

The use of leukocytes' secretome to individually target biological therapy in autoimmune arthritis: a case report

利用白细胞分泌蛋白组进行自身免疫性关节炎的个体化生物治疗:病例报告

Patrice E Poubelle, Nathalie Pagé, Marie-Pier Longchamps, Natalia Sampaio Moura, David B Beck, Ivona Aksentijevich, Philippe A Tessier, Martin Pelletier