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

Mechanisms of NLRP3 activation and inhibition elucidated by functional analysis of disease-associated variants

通过对疾病相关变异体的功能分析阐明NLRP3激活和抑制机制

Shouya Feng ,Matthew C Wierzbowski ,Katja Hrovat-Schaale ,Andreas Dumortier ,Yaoyuan Zhang ,Maria Zyulina ,Paul J Baker ,Thomas Reygaerts ,Annemarie Steiner ,Dominic De Nardo ,Dhanya Lakshmi Narayanan ,Florian Milhavet ,Alberto Pinzon-Charry ,Juan Ignacio Arostegui ,Raju P Khubchandani ,Matthias Geyer ,Guilaine Boursier ,Seth L Masters

Genetic variants in UNC93B1 predispose to childhood-onset systemic lupus erythematosus

UNC93B1基因变异易导致儿童期发病的系统性红斑狼疮

Mahmoud Al-Azab # ,Elina Idiiatullina # ,Ziyang Liu ,Meng Lin ,Katja Hrovat-Schaale ,Huifang Xian ,Jianheng Zhu ,Mandy Yang ,Bingtai Lu ,Zhiyao Zhao ,Yiyi Liu ,Jingjie Chang ,Xiaotian Li ,Caiqin Guo ,Yunfeng Liu ,Qi Wu ,Jiazhang Chen ,Chaoting Lan ,Ping Zeng ,Jun Cui ,Xia Gao ,Wenhao Zhou ,Yan Zhang ,Yuxia Zhang ,Seth L Masters

Heterozygous de novo dominant negative mutation of REXO2 results in interferonopathy

REXO2 杂合新生显性负突变导致干扰素病

Elina Idiiatullina #, Mahmoud Al-Azab #, Meng Lin, Katja Hrovat-Schaale, Ziyang Liu, Xiaotian Li, Caiqin Guo, Xixi Chen, Yaoying Li, Song Gao, Jun Cui, Wenhao Zhou, Li Liu, Yuxia Zhang, Seth L Masters

Rare SH2B3 coding variants in lupus patients impair B cell tolerance and predispose to autoimmunity

狼疮患者中罕见的SH2B3编码变异会损害B细胞耐受性并易导致自身免疫性疾病。

Yaoyuan Zhang ,Rhiannon Morris # ,Grant J Brown # ,Ayla May D Lorenzo ,Xiangpeng Meng ,Nadia J Kershaw ,Pamudika Kiridena ,Gaétan Burgio ,Simon Gross ,Jean Y Cappello ,Qian Shen ,Hao Wang ,Cynthia Turnbull ,Tom Lea-Henry ,Maurice Stanley ,Zhijia Yu ,Fiona D Ballard ,Aaron Chuah ,James C Lee ,Ann-Maree Hatch ,Anselm Enders ,Seth L Masters ,Alexander P Headley ,Peter Trnka ,Dominic Mallon ,Jeffery T Fletcher ,Giles D Walters ,Mario Šestan ,Marija Jelušić ,Matthew C Cook ,Vicki Athanasopoulos ,David A Fulcher ,Jeffrey J Babon ,Carola G Vinuesa # ,Julia I Ellyard #

Pyrin variant E148Q potentiates inflammasome activation and the effect of pathogenic mutations in cis

Pyrin 变体 E148Q 增强炎症小体活化和顺式致病突变的影响

Thomas Reygaerts, Pawat Laohamonthonkul, Katja Hrovat-Schaale, Fiona Moghaddas, Paul J Baker, Paul E Gray, Seth L Masters

Whole-genome sequencing reveals that variants in the Interleukin 18 Receptor Accessory Protein 3'UTR protect against ALS

全基因组测序表明,白细胞介素 18 受体辅助蛋白 3'UTR 的变异可预防 ALS

Chen Eitan #, Aviad Siany #, Elad Barkan, Tsviya Olender, Kristel R van Eijk, Matthieu Moisse, Sali M K Farhan, Yehuda M Danino, Eran Yanowski, Hagai Marmor-Kollet, Natalia Rivkin, Nancy Sarah Yacovzada, Shu-Ting Hung, Johnathan Cooper-Knock, Chien-Hsiung Yu, Cynthia Louis, Seth L Masters, Kevin P K

DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signaling

DPP9 缺乏症:一种可通过降低 NLRP1/IL-1 信号传导来挽救的炎症小体病

Cassandra R Harapas ,Kim S Robinson ,Kenneth Lay ,Jasmine Wong ,Ricardo Moreno Traspas ,Nasrin Nabavizadeh ,Annick Rass-Rothschild ,Bertrand Boisson ,Scott B Drutman ,Pawat Laohamonthonkul ,Devon Bonner ,Jingwei Rachel Xiong ,Mark D Gorrell ,Sophia Davidson ,Chien-Hsiung Yu ,Mark D Fleming ,Jonas Gudera ,Jerry Stein ,Miriam Ben-Harosh ,Emily Groopman ,Akiko Shimamura ,Hannah Tamary ,Hülya Kayserili ,Nevin Hatipoğlu ,Jean-Laurent Casanova ,Jonathan A Bernstein ,Franklin L Zhong ,Seth L Masters ,Bruno Reversade

Deficiency in coatomer complex I causes aberrant activation of STING signalling

衣壳蛋白复合物I的缺乏会导致STING信号异常激活

Annemarie Steiner ,Katja Hrovat-Schaale ,Ignazia Prigione ,Chien-Hsiung Yu ,Pawat Laohamonthonkul ,Cassandra R Harapas ,Ronnie Ren Jie Low ,Dominic De Nardo ,Laura F Dagley ,Michael J Mlodzianoski ,Kelly L Rogers ,Thomas Zillinger ,Gunther Hartmann ,Michael P Gantier ,Marco Gattorno ,Matthias Geyer ,Stefano Volpi ,Sophia Davidson # ,Seth L Masters #

Inflammasome sensor NLRP1 disease variant M1184V promotes autoproteolysis and DPP9 complex formation by stabilizing the FIIND domain

炎症小体传感器 NLRP1 疾病变体 M1184V 通过稳定 FIIND 结构域促进自身蛋白水解和 DPP9 复合物形成

Jonas Moecking, Pawat Laohamonthonkul, Kubilay Meşe, Gregor Hagelueken, Annemarie Steiner, Cassandra R Harapas, Jarrod J Sandow, Jonathan D Graves, Seth L Masters, Matthias Geyer

Differential recognition of HIV-stimulated IL-1β and IL-18 secretion through NLR and NAIP signalling in monocyte-derived macrophages

单核细胞衍生的巨噬细胞中 NLR 和 NAIP 信号对 HIV 刺激的 IL-1β 和 IL-18 分泌的差异识别

Kathy Triantafilou, Christopher J K Ward, Magdalena Czubala, Robert G Ferris, Emma Koppe, Curt Haffner, Vincent Piguet, Vipulkumar K Patel, Heather Amrine-Madsen, Louise K Modis, Seth L Masters, Martha Triantafilou