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

Inhaled DNAI1 mRNA therapy for treatment of primary ciliary dyskinesia.

吸入式 DNAI1 mRNA 疗法治疗原发性纤毛运动障碍

Hennig Mirko, Bhattacharjee Rumpa B, Agarwal Ishita, Alfaifi Ali, Casillas Jade E, Chavez Sofia, Ishimaru Daniella, Liston David, Mohapatra Sakya, Molla Touhidul, Pathare Suyog, Sidhu Maninder S, Wang Peng, Wang Zechen, Lombana T Noelle, Kharitonov Vladimir G, Couch Jessica A, Lockhart David J, Wustman Brandon A

Lipid nanoparticle-encapsulated Dnai1 mRNA rescues ciliary activity in primary ciliary dyskinesia mouse cell models

脂质纳米颗粒包裹的Dnai1 mRNA可挽救原发性纤毛运动障碍小鼠细胞模型中的纤毛活动。

Smith, Amanda J; Sears, Patrick R; Hennig, Mirko; Bhattacharjee, Rumpa B; Yin, Weining; Golliher, Hannah; Ishimaru, Daniella; Lombana, T Noelle; Lockhart, David J; Wustman, Brandon A; Ostrowski, Lawrence E

In vivo editing of lung stem cells for durable gene correction in mice

利用小鼠肺干细胞进行体内编辑以实现持久基因校正

Sun, Yehui; Chatterjee, Sumanta; Lian, Xizhen; Traylor, Zachary; Sattiraju, Sandhya R; Xiao, Yufen; Dilliard, Sean A; Sung, Yun-Chieh; Kim, Minjeong; Lee, Sang M; Moore, Stephen; Wang, Xu; Zhang, Di; Wu, Shiying; Basak, Pratima; Wang, Jialu; Liu, Jing; Mann, Rachel J; LePage, David F; Jiang, Weihong; Abid, Shadaan; Hennig, Mirko; Martinez, Anna; Wustman, Brandon A; Lockhart, David J; Jain, Raksha; Conlon, Ronald A; Drumm, Mitchell L; Hodges, Craig A; Siegwart, Daniel J

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat

验证药物遗传学在识别适合接受米格司他治疗的法布里病患者中的应用。

Benjamin, Elfrida R; Della Valle, Maria Cecilia; Wu, Xiaoyang; Katz, Evan; Pruthi, Farhana; Bond, Sarah; Bronfin, Benjamin; Williams, Hadis; Yu, Julie; Bichet, Daniel G; Germain, Dominique P; Giugliani, Roberto; Hughes, Derralynn; Schiffmann, Raphael; Wilcox, William R; Desnick, Robert J; Kirk, John; Barth, Jay; Barlow, Carrolee; Valenzano, Kenneth J; Castelli, Jeff; Lockhart, David J

Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase

当与输注阿加糖酶联合使用时,口服米格司他盐酸盐可提高法布里病患者体内活性α-半乳糖苷酶A的全身暴露量和组织水平。

Warnock, David G; Bichet, Daniel G; Holida, Myrl; Goker-Alpan, Ozlem; Nicholls, Kathy; Thomas, Mark; Eyskens, Francois; Shankar, Suma; Adera, Mathews; Sitaraman, Sheela; Khanna, Richie; Flanagan, John J; Wustman, Brandon A; Barth, Jay; Barlow, Carrolee; Valenzano, Kenneth J; Lockhart, David J; Boudes, Pol; Johnson, Franklin K

Risk of death in heart disease is associated with elevated urinary globotriaosylceramide

心脏病死亡风险与尿液中三己糖神经酰胺水平升高相关。

Schiffmann, Raphael; Forni, Sabrina; Swift, Caren; Brignol, Nastry; Wu, Xiaoyang; Lockhart, David J; Blankenship, Derek; Wang, Xuan; Grayburn, Paul A; Taylor, Matthew R G; Lowes, Brian D; Fuller, Maria; Benjamin, Elfrida R; Sweetman, Lawrence

Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies

药理伴侣对法布里病中α-半乳糖苷酶A活性和三己糖神经酰胺清除率的安全性和药效学影响:两项II期临床研究报告

Germain, Dominique P; Giugliani, Roberto; Hughes, Derralynn A; Mehta, Atul; Nicholls, Kathy; Barisoni, Laura; Jennette, Charles J; Bragat, Alexander; Castelli, Jeff; Sitaraman, Sheela; Lockhart, David J; Boudes, Pol F

The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase

药理学伴侣异法戈明可增强戈谢病L444P突变型β-葡萄糖苷酶的活性。

Khanna, Richie; Benjamin, Elfrida R; Pellegrino, Lee; Schilling, Adriane; Rigat, Brigitte A; Soska, Rebecca; Nafar, Hadis; Ranes, Brian E; Feng, Jessie; Lun, Yi; Powe, Allan C; Palling, David J; Wustman, Brandon A; Schiffmann, Raphael; Mahuran, Don J; Lockhart, David J; Valenzano, Kenneth J

DNA variation and brain region-specific expression profiles exhibit different relationships between inbred mouse strains: implications for eQTL mapping studies

DNA变异和脑区特异性表达谱在近交系小鼠中表现出不同的关系:对eQTL定位研究的启示

Hovatta, Iiris; Zapala, Matthew A; Broide, Ron S; Schadt, Eric E; Libiger, Ondrej; Schork, Nicholas J; Lockhart, David J; Barlow, Carrolee

Adult mouse brain gene expression patterns bear an embryologic imprint

成年小鼠脑基因表达模式带有胚胎发育的印记。

Zapala, Matthew A; Hovatta, Iiris; Ellison, Julie A; Wodicka, Lisa; Del Rio, Jo A; Tennant, Richard; Tynan, Wendy; Broide, Ron S; Helton, Rob; Stoveken, Barbara S; Winrow, Christopher; Lockhart, Daniel J; Reilly, John F; Young, Warren G; Bloom, Floyd E; Lockhart, David J; Barlow, Carrolee