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

Technical and biological sources of unreliability of Infinium probes on Illumina methylation microarrays

Illumina 甲基化微阵列上 Infinium 探针不可靠的技术和生物学原因

Tatiana Nazarenko, Charlotte Dafni Vavourakis, Allison Jones, Iona Evans, Lena Schreiberhuber, Christine Kastner, Isma Ishaq-Parveen, Elisa Redl, Anthony W Watson, Kirsten Brandt, Clive Carter, Alexey Zaikin, Chiara Maria Stella Herzog, Martin Widschwendter

An Atypical Autoinflammatory Disease Due to an LRR Domain NLRP3 Mutation Enhancing Binding to NEK7

由于 LRR 域 NLRP3 突变增强与 NEK7 的结合而导致的非典型自身炎症性疾病

Emily A Caseley, Samuel Lara-Reyna, James A Poulter, Joanne Topping, Clive Carter, Fatima Nadat, Gavin P Spickett, Sinisa Savic, Michael F McDermott

Biallelic mutations in calcium release activated channel regulator 2A (CRACR2A) cause a primary immunodeficiency disorder

钙释放激活通道调节剂 2A (CRACR2A) 的双等位基因突变导致原发性免疫缺陷病

Beibei Wu #, Laura Rice #, Jennifer Shrimpton, Dylan Lawless, Kieran Walker, Clive Carter, Lynn McKeown, Rashida Anwar, Gina M Doody, Sonal Srikanth, Yousang Gwack #, Sinisa Savic #

Expanding Clinical Phenotype and Novel Insights into the Pathogenesis of ICOS Deficiency

扩大临床表型并深入了解 ICOS 缺乏症的发病机制

Hassan Abolhassani, Yasser M El-Sherbiny, Gururaj Arumugakani, Clive Carter, Stephen Richards, Dylan Lawless, Philip Wood, Matthew Buckland, Marzieh Heydarzadeh, Asghar Aghamohammadi, Sophie Hambleton, Lennart Hammarström, Siobhan O Burns, Rainer Doffinger, Sinisa Savic

A novel RAG1 mutation reveals a critical in vivo role for HMGB1/2 during V(D)J recombination

新的 RAG1 突变揭示了 HMGB1/2 在 V(D)J 重组过程中的体内关键作用

Daniel T Thwaites, Clive Carter, Dylan Lawless, Sinisa Savic, Joan M Boyes

Bialellic Mutations in Tetratricopeptide Repeat Domain 7A (TTC7A) Cause Common Variable Immunodeficiency-Like Phenotype with Enteropathy

四肽重复域 7A (TTC7A) 的双等位基因突变导致常见变异型免疫缺陷样表型和肠病

Dylan Lawless, Anoop Mistry, Philip M Wood, Jens Stahlschmidt, Gururaj Arumugakani, Mark Hull, David Parry, Rashida Anwar, Clive Carter, Sinisa Savic

Autoimmune manifestations in aged mice arise from early-life immune dysregulation

老年小鼠的自身免疫表现源于早期免疫失调。

Mahmoud, Tamer I; Wang, Jingya; Karnell, Jodi L; Wang, Qiming; Wang, Shu; Naiman, Brian; Gross, Phillip; Brohawn, Philip Z; Morehouse, Chris; Aoyama, Jordan; Wasserfall, Clive; Carter, Laura; Atkinson, Mark A; Serreze, David V; Braley-Mullen, Helen; Mustelin, Tomas; Kolbeck, Roland; Herbst, Ronald; Ettinger, Rachel