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

Case Report: Characterization of a RAC2 R68W homozygous activating mutation causing combined immune deficiency

病例报告:RAC2 R68W纯合激活突变导致联合免疫缺陷的特征分析

Desjardins, Aléhandra; Marois, Louis; Donkó, Ágnes; Cros, Guilhem; Bédard, Marc-Antoine; Paul, Marie-Lorna; Hsu, Amy P; Darbinian, Emma; Gosse, Géraldine; Leto, Thomas L; Chapdelaine, Hugo; Massé, Chantal; Fernandez, Isabel; Touzot, Fabien; Sebajang, Herawaty; Falcone, Emilia Liana

Genotype-specific immune responses at the intestinal barrier predispose to colitis in mouse models of chronic granulomatous disease

慢性肉芽肿病小鼠模型中,肠道屏障的基因型特异性免疫反应易导致结肠炎。

Darbinian, Emma; Mlaga, Kodjovi D; Chandrasekaran, Prabha; Han, Yu; Donkó, Ágnes; Desjardins, Aléhandra; Leto, Thomas L; Holland, Steven M; Poudrier, Johanne; Falcone, Emilia Liana

Challenging the role of a NOX4-Piezo1 axis in neutrophil bactericidal function

挑战NOX4-Piezo1轴在嗜中性粒细胞杀菌功能中的作用

Knaus, Ulla G; Clark, Robert A; Nauseef, William M; Dinauer, Mary C; Leto, Thomas L; Jaquet, Vincent

Clinical and functional spectrum of RAC2-related immunodeficiency.

RAC2相关免疫缺陷的临床和功能谱

Donkó Ágnes, Sharapova Svetlana O, Kabat Juraj, Ganesan Sundar, Hauck Fabian H, Bergerson Jenna R E, Marois Louis, Abbott Jordan, Moshous Despina, Williams Kelli W, Campbell Nicholas, Martin Paul L, Lagresle-Peyrou Chantal, Trojan Timothy, Kuzmenko Natalia B, Deordieva Ekaterina A, Raykina Elena V, Abers Michael S, Abolhassani Hassan, Barlogis Vincent, Milla Carlos, Hall Geoffrey, Mousallem Talal, Church Joseph, Kapoor Neena, Cros Guilhem, Chapdelaine Hugo, Franco-Jarava Clara, Lopez-Lerma Ingrid, Miano Maurizio, Leiding Jennifer W, Klein Christoph, Stasia Marie José, Fischer Alain, Hsiao Kuang-Chih, Martelius Timi, Seppänen Mikko R J, Barmettler Sara, Walter Jolan, Masmas Tania N, Mukhina Anna A, Falcone Emilia Liana, Kracker Sven, Shcherbina Anna, Holland Steven M, Leto Thomas L, Hsu Amy P

Development of an improved and specific inhibitor of NADPH oxidase 2 to treat traumatic brain injury

开发一种改良的、特异性更高的NADPH氧化酶2抑制剂用于治疗创伤性脑损伤

Mason, Hannah; Rai, Ganesha; Kozyr, Arina; De Jonge, Nathaniel; Gliniewicz, Emily; Berg, Lars J; Wald, Gal; Dorrier, Cayce; Henderson, Mark J; Zakharov, Alexey; Dyson, Tristan; Audley, John; Pettinato, Anthony M; Padilha, Elias Carvalho; Shah, Pranav; Xu, Xin; Leto, Thomas L; Simeonov, Anton; Zarember, Kol A; McGavern, Dorian B; Gallin, John I

NOX1 and PRDX6 synergistically support migration and invasiveness of hepatocellular carcinoma cells through enhanced NADPH oxidase activity

NOX1和PRDX6通过增强NADPH氧化酶活性协同促进肝细胞癌细胞的迁移和侵袭。

Lagal, Daniel J; Bárcena, J Antonio; Requejo-Aguilar, Raquel; Padilla, C Alicia; Leto, Thomas L

Pan-Cancer Analysis Shows TP53 Mutations Modulate the Association of NOX4 with Genetic Programs of Cancer Progression and Clinical Outcome

泛癌分析表明,TP53突变调节NOX4与癌症进展和临床结果的遗传程序之间的关联

Ma, Wei Feng; Boudreau, Howard E; Leto, Thomas L

Dominant activating RAC2 mutation with lymphopenia, immunodeficiency, and cytoskeletal defects

显性激活型 RAC2 突变伴淋巴细胞减少症、免疫缺陷和细胞骨架缺陷

Hsu, Amy P; Donkó, Agnes; Arrington, Megan E; Swamydas, Muthulekha; Fink, Danielle; Das, Arundhoti; Escobedo, Omar; Bonagura, Vincent; Szabolcs, Paul; Steinberg, Harry N; Bergerson, Jenna; Skoskiewicz, Amanda; Makhija, Melanie; Davis, Joie; Foruraghi, Ladan; Palmer, Cindy; Fuleihan, Ramsay L; Church, Joseph A; Bhandoola, Avinash; Lionakis, Michail S; Campbell, Sharon; Leto, Thomas L; Kuhns, Douglas B; Holland, Steven M

Hypothyroidism-associated missense mutation impairs NADPH oxidase activity and intracellular trafficking of Duox2

甲状腺功能减退相关的错义突变会损害 NADPH 氧化酶活性和 Duox2 的细胞内转运。

Donkó, Ágnes; Morand, Stanislas; Korzeniowska, Agnieszka; Boudreau, Howard E; Zana, Melinda; Hunyady, László; Geiszt, Miklós; Leto, Thomas L

Histamine stimulates hydrogen peroxide production by bronchial epithelial cells via histamine H1 receptor and dual oxidase

组胺通过组胺H1受体和双氧化酶刺激支气管上皮细胞产生过氧化氢。

Rada, Balázs; Boudreau, Howard E; Park, Jonathan J; Leto, Thomas L