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

PIKfyve inhibition in MM disrupts autophagy and lysosome function, increasing MHC expression and cholesterol metabolism.

PIKfyve 在 MM 中受到抑制会破坏自噬和溶酶体功能,增加 MHC 表达和胆固醇代谢。

Bonolo de Campos Cecilia, He Ruijuan, Pelino Tessa, Abelman Dor D, Li Zhihua, Lee Daniel K C, Wang Ding Yan, St Paul Michael, Bruce Jeffrey, Simpson Craig D, Wybeng-Groot Leanne, Moran Michael F, Tiedemann Rodger, Pugh Trevor, Mak Tak W, Issakova Olga, Sepetov Nikolai, Trudel Suzanne, Stewart A Keith

Author Correction: Droughts preceding tree mortality events have increased in duration and intensity, especially in dry biomes

作者更正:树木死亡事件发生前的干旱持续时间和强度均有所增加,尤其是在干旱生物群落中。

Gazol, Antonio; Pizarro, Manuel; Hammond, William M; Allen, Craig D; Camarero, J Julio

Targeted deep sequencing identifies mosaicism in patients with immune dysregulation

靶向深度测序可识别免疫失调患者的嵌合现象

Schmitz, Elizabeth G; Paul, Alexander J; Ghosh, Rajarshi; Saucier, Nermina; Kolicheski, Ana; Risma, Samuel I; McDaniels, Kristen P; Liu, Michelle; Lewis, Katie L; de Jesus, Adriana A; Alehashemi, Sara; Fronick, Catrina C; Stein, David; Dominguez, Daniela; Hiraki, Linda T; Lee, Jessica H; Norman, Stephanie; Peng, Christine R; Ward, Brant R; Pettiford, Leah H; Platt, Anna; Lawrence, Monica G; Rocco, Joseph M; Al-Herz, Waleed; Zerbe, Christa S; Atkinson, T Prescott; Peng, Xiao P; Allenspach, Eric J; Hoytema van Konijnenburg, David P; Platt, Craig D; Elkins, Megan; Walter, Jolan E; Bleesing, Jack J; Klion, Amy; Ramaswami, Ramya; Uzel, Gulbu; Lionakis, Michail S; Dissanayake, Dilan; Su, Helen C; Cortese, Irene; Fuss, Ivan J; Bergerson, Jenna R E; Dropulic, Lesia; Sereti, Irini; Lisco, Andrea; Itan, Yuval; Milner, Joshua D; Bogunovic, Dusan; Goldbach-Mansky, Raphaela; Rao, V Koneti; Delmonte, Ottavia M; Notarangelo, Luigi D; Keller, Michael D; Durkee-Shock, Jessica; Cohen, Jeffrey I; Similuk, Morgan N; Holland, Steven M; Griffith, Malachi; Griffith, Obi L; Vogel, Tiphanie P; Canna, Scott; Freeman, Alexandra F; Walkiewicz, Magdalena A; Cooper, Megan A

Use and Implications of the Fracture Risk Assessment Tool in Primary Hyperparathyroidism

原发性甲状旁腺功能亢进症中骨折风险评估工具的应用及意义

Sant, Vivek R; ElNakieb, Yaser; Rousseau, Justin F; Liu, Yu-Lun; Rubin, Craig D; Maalouf, Naim M

IL12RB1 Deficiency Appearing in North America: Expanding the Clinical Phenotypes

IL12RB1 缺乏症在北美出现:临床表型不断扩展

Wang, Chen; Marciano, Beatriz E; Harris, Annalie J; Johnston, Alicia M; Apaydin Arikan, Evsen; Bayer, Diana K; Solomon, Benjamin D; Price, Nathan B; Platt, Craig D; Modi, Arunkumar J; Shaker, Marcus S; Seroogy, Christine M; Johnson, Daniel; Kleiner, David E; Chirombo Kluczynski, Lavenda; Anderson, Victoria L; Daub, Janine R; Berghout, Joanne; Oler, Andrew J; Walkiewicz, Magdalena A; Similuk, Morgan; Lewis, David B; Galgiani, John N; Freeman, Alexandra F; Rosen, Lindsey B; Hsu, Amy P; Zerbe, Christa S; Holland, Steven M

Systematic functional validation of IKAROS variants from patients and laboratory-generated mutations

对来自患者和实验室生成的突变体的 IKAROS 变异体进行系统性功能验证

Kuehn, Hye Sun; Gil Silva, Agustin A; Klangkalya, Natchanun; Esteve-Sole, Ana; Goel, Shubham; Niemela, Julie E; Stoddard, Jennifer L; Chong, Hey; Williams, Kelli; Ip, Winnie; Framil Seoane, Mario; Loganathan, Sathish Kumar; Anantharachagan, Ariharan; García-Soidán, Ana; Shaffren, Serena; Bindernagel, Constance; Mendez, Philip; Miller, Rahim Z; Abolhassani, Hassan; Hoytema van Konijnenburg, David P; Geerlinks, Ashley V; Cabanillas, Diana; Zonneveld-Huijssoon, Evelien; Rutgers, Abraham; Tangye, Stuart; Ma, Cindy; Grey, Alice; O'Young, Patrick; Aldave Becerra, Juan Carlos; Lyons, Jonathan J; White, Andrew A; Claiborne, Michael; Doroudchi, Mohammad-Ali; Modena, Brian D; Milner, Joshua D; Solanich, Xavier; Farela Neves, João; Platt, Craig D; Hammarström, Lennart; Routes, John M; Verbsky, James; Butte, Manish J; Lesmana, Harry; Griffiths, William J H; Kumararatne, Dinakantha; Hauck, Fabian; Allende, Luis M; Rodríguez-Gallego, Carlos; Elfeky, Reem; Rubin, Tamar; Boztug, Kaan; Fleisher, Thomas A; Rosenzweig, Sergio D

What We Have Here Is a Failure to Communicate: Interleukin-12 / Interferon-gamma Axis Defects and Mendelian Susceptibility to Mycobacterial Disease

我们这里面临的是沟通障碍:白细胞介素-12/干扰素-γ轴缺陷与分枝杆菌病的孟德尔易感性

Johnston, Alicia Μ; Rider, Nicholas L; Freeman, Alexandra F; Holland, Steven M; Orange, Jordan S; Platt, Craig D; Anglero, Andrea Carlo; Tsoulis, Michael; Zinn, Daniel; Passarelli, Patrick; Shaker, Marcus

Case Report: Pseudomonas liver abscess in a previously healthy child with homozygous pathogenic S allele variant of the SERPINA1 gene

病例报告:一名既往健康儿童发生铜绿假单胞菌肝脓肿,该儿童携带SERPINA1基因纯合致病性S等位基因变异。

Thomas, Sanya; D'Souza, Alaric W; Alhezam, Musaab; Platt, Craig D; Levy, Ofer

Genetic dissection of transcription start site selection by RNA polymerase II in Saccharomyces cerevisiae

酿酒酵母中RNA聚合酶II转录起始位点选择的遗传解析

Arora, Payal; Brennan, Kieran F; Warner, Marcie H; Kaplan, Craig D

Important role in transcription start site selection for the RNA polymerase II-TFIIE-TFIIH interface in Saccharomyces cerevisiae

在酿酒酵母中,RNA聚合酶II-TFIIE-TFIIH界面在转录起始位点选择中起重要作用

Basnet, Pratik; Zhu, Yunye; Vvedenskaya, Irina O; Arora, Payal; Hammer, Staci E; McVicar, Brittany R; Alex, Shawn Aji; Nickels, Bryce E; Kaplan, Craig D