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

Loss-of-function variants in MARK2 cause neurodevelopmental disorder

MARK2基因功能缺失变异会导致神经发育障碍

Yang, Yunseon; Shim, Yoon-Kyung; Miyake, Noriko; Takada, Sanami; Silva, Sebastian; Peters-Foitzick, Alexander; Gupta, Abha R; Neuhaus, Emily; Bradley, Catherine; Taylor, Cora; Russell, Bianca; Shrewsbury, Amanda; Michaelson, Jacob J; Murali, Chaya N; Gerard, Amanda; Geltzeiler, Alexa; Chung, Wendy K; Chung, Hyung-Lok

B-cell immunodeficiency associated with polynucleotide kinase 3'-phosphatase (PNKP) deficiency.

与多核苷酸激酶 3'-磷酸酶 (PNKP) 缺乏相关的 B 细胞免疫缺陷

Takada Sanami, Okano Tsubasa, Tanita Kay, Tsukada Kaima, Watanabe Masato, Hijikata Atsushi, Naruto Takuya, Yeh Tzu-Wen, Kasuga Saki, Tokimasa Sadao, Taniguchi-Ikeda Mariko, Ogata Reina, Ikeda Azusa, Goto Tomohide, Osaka Hitoshi, Takagi Masatoshi, Imai Kohsuke, Morio Tomohiro, van der Burg Mirjam, Shimada Mikio, Kanegane Hirokazu

A Novel AGR2 Variant Causing Aberrant Monomer-Dimer Equilibrium Leading to Severe Respiratory and Digestive Symptoms

一种新型AGR2变异体导致单体-二聚体平衡异常,进而引发严重的呼吸系统和消化系统症状

Takada, Sanami; Gallo, Silvanna; Silva, Sebastian; Tanaka, Hiroki; Pincheira, Oscar; Zúñiga, Juan; Villarroel, Marcela; Hidalgo, Ximena; Melo-Tanner, Joel; Suzuki, Hidefumi; Machida, Shinichi; Takahashi, Hidehisa; Miyake, Noriko

Staphylococcus Agr virulence is critical for epidermal colonization and associates with atopic dermatitis development

金黄色葡萄球菌Agr毒力对表皮定植至关重要,并与特应性皮炎的发生发展相关。

Nakamura, Yuumi; Takahashi, Hiroki; Takaya, Akiko; Inoue, Yuzaburo; Katayama, Yuki; Kusuya, Yoko; Shoji, Tatsuma; Takada, Sanami; Nakagawa, Seitaro; Oguma, Rena; Saito, Nobuko; Ozawa, Naoko; Nakano, Taiji; Yamaide, Fumiya; Dissanayake, Eishika; Suzuki, Shuichi; Villaruz, Amer; Varadarajan, Saranyaraajan; Matsumoto, Masanori; Kobayashi, Tomoko; Kono, Michihiro; Sato, Yasunori; Akiyama, Masashi; Otto, Michael; Matsue, Hiroyuki; Núñez, Gabriel; Shimojo, Naoki