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

Development of self-phenotyping tools to empower patients and improve diagnostics

开发自我表型分析工具,以增强患者自主性并改进诊断

Shefchek, Kent; Ziniel, Sonja I; McMurry, Julie A; Brownstein, Catherine A; Brownstein, John S; Riggs, Erin Rooney; Might, Matthew; Smedley, Damian; Clugston, Amy; Beggs, Alan H; Paterson, Heather; Robinson, Peter N; Vasilevsky, Nicole A; Holm, Ingrid A; Haendel, Melissa A

Increased oxidative stress and autophagy in NGLY1 patient iPSC-derived neural stem cells.

NGLY1 患者 iPSC 衍生的神经干细胞中氧化应激和自噬增加

Shyr Zeenat A, Amniouel Soukaina, Owusu-Ansah Kofi, Tambe Mitali, Abbott Joshua, Might Matthew, Zheng Wei

Characteristics and determinants of pulmonary long COVID

肺部长期新冠症状的特征和决定因素

Patton, Michael John; Benson, Donald; Robison, Sarah W; Raval, Dhaval; Locy, Morgan L; Patel, Kinner; Grumley, Scott; Levitan, Emily B; Morris, Peter; Might, Matthew; Gaggar, Amit; Erdmann, Nathaniel

Generation and characterization of NGLY1 patient-derived midbrain organoids

NGLY1 患者来源的中脑类器官的生成和表征

Joshua Abbott, Mitali Tambe, Ivan Pavlinov, Atena Farkhondeh, Ha Nam Nguyen, Miao Xu, Manisha Pradhan, Tate York, Matthew Might, Karsten Baumgärtel, Steven Rodems, Wei Zheng

A Primer in Precision Nephrology: Optimizing Outcomes in Kidney Health and Disease through Data-Driven Medicine

精准肾脏病学入门:通过数据驱动医学优化肾脏健康和疾病的治疗效果

Jayaraman, Pushkala; Crouse, Andrew; Nadkarni, Girish; Might, Matthew

Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling

IRF2BPL 缺失会通过过量的 Wnt 信号传导损害神经元的维持

Paul C Marcogliese, Debdeep Dutta, Shrestha Sinha Ray, Nghi D P Dang, Zhongyuan Zuo, Yuchun Wang, Di Lu, Fatima Fazal, Thomas A Ravenscroft, Hyunglok Chung, Oguz Kanca, JiJun Wan, Emilie D Douine, Undiagnosed Diseases Network, Loren D M Pena, Shinya Yamamoto, Stanley F Nelson, Matthew Might, Kathrin

The precision medicine process for treating rare disease using the artificial intelligence tool mediKanren

利用人工智能工具mediKanren进行罕见病精准医疗的流程

Foksinska, Aleksandra; Crowder, Camerron M; Crouse, Andrew B; Henrikson, Jeff; Byrd, William E; Rosenblatt, Gregory; Patton, Michael J; He, Kaiwen; Tran-Nguyen, Thi K; Zheng, Marissa; Ramsey, Stephen A; Amin, Nada; Osborne, John; Might, Matthew

An induced pluripotent stem cell-derived NMJ platform for study of the NGLY1-Congenital Disorder of Deglycosylation

诱导性多能干细胞衍生的 NMJ 平台,用于研究 NGLY1-先天性去糖基化障碍

Trevor Sasserath, Ashley L Robertson, Roxana Mendez, Tristan T Hays, Ethan Smith, Helena Cooper, Nesar Akanda, John W Rumsey, Xiufang Guo, Atena Farkhondeh, Manisha Pradhan, Karsten Baumgaertel, Matthew Might, Steven Rodems, Wei Zheng, James J Hickman

High-throughput protein modification quantitation analysis using intact protein MRM and its application on hENGase inhibitor screening

完整蛋白质MRM高通量蛋白质修饰定量分析及其在hENGase抑制剂筛选中的应用

Dingyin Tao, Miao Xu, Atena Farkhondeh, Andrew P Burns, Steven Rodems, Matthew Might, Wei Zheng, Christopher A LeClair

Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases Network

罕见病患者匹配:未确诊疾病网络中互联网病例发现策略的开发和结果

LeBlanc, Kimberly; Glanton, Emily; Nagy, Anna; Bater, Jorick; Berro, Tala; McGuinness, Molly A; Studwell, Courtney; Might, Matthew