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

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

COPA基因突变会损害内质网-高尔基体运输,并导致遗传性自身免疫介导的肺部疾病和关节炎。

Watkin, Levi B; Jessen, Birthe; Wiszniewski, Wojciech; Vece, Timothy J; Jan, Max; Sha, Youbao; Thamsen, Maike; Santos-Cortez, Regie L P; Lee, Kwanghyuk; Gambin, Tomasz; Forbes, Lisa R; Law, Christopher S; Stray-Pedersen, Asbjørg; Cheng, Mickie H; Mace, Emily M; Anderson, Mark S; Liu, Dongfang; Tang, Ling Fung; Nicholas, Sarah K; Nahmod, Karen; Makedonas, George; Canter, Debra L; Kwok, Pui-Yan; Hicks, John; Jones, Kirk D; Penney, Samantha; Jhangiani, Shalini N; Rosenblum, Michael D; Dell, Sharon D; Waterfield, Michael R; Papa, Feroz R; Muzny, Donna M; Zaitlen, Noah; Leal, Suzanne M; Gonzaga-Jauregui, Claudia; Boerwinkle, Eric; Eissa, N Tony; Gibbs, Richard A; Lupski, James R; Orange, Jordan S; Shum, Anthony K

Graded defects in cytotoxicity determine severity of hemophagocytic lymphohistiocytosis in humans and mice.

细胞毒性缺陷的程度决定了人类和小鼠噬血细胞性淋巴组织细胞增生症的严重程度

Jessen Birthe, Kögl Tamara, Sepulveda Fernando E, de Saint Basile Genevieve, Aichele Peter, Ehl Stephan

ORAI1-mediated calcium influx is required for human cytotoxic lymphocyte degranulation and target cell lysis.

ORAI1 介导的钙离子内流是人类细胞毒性淋巴细胞脱颗粒和靶细胞裂解所必需的

Maul-Pavicic Andrea, Chiang Samuel C C, Rensing-Ehl Anne, Jessen Birthe, Fauriat Cyril, Wood Stephanie M, Sjöqvist Sebastian, Hufnagel Markus, Schulze Ilka, Bass Thilo, Schamel Wolfgang W, Fuchs Sebastian, Pircher Hanspeter, McCarl Christie-Ann, Mikoshiba Katsuhiko, Schwarz Klaus, Feske Stefan, Bryceson Yenan T, Ehl Stephan