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

A murine model lacking Lyst recapitulates Chediak-Higashi syndrome with an earlier-onset neurodegenerative phenotype.

缺乏 Lyst 的小鼠模型重现了 Chediak-Higashi 综合征,并表现出更早发病的神经退行性表型

Greene Sunny, Talbert Mackenzie L, Frost F Graeme, Zerfas Patricia M, Springer Danielle, Noguchi Audrey, Morimoto Marie, Maynard Dawn, Garrett Lisa, Elliot Gene, Traver Maria, Yarnell David, Leoyklang Petcharat, Burke John D, Nicoli Elena-Raluca, Gahl William A, Introne Wendy J, Malicdan May Christine V

Insights into the renal pathophysiology in Hermansky-Pudlak syndrome-1 from urinary extracellular vesicle proteomics and a new mouse model.

通过尿液细胞外囊泡蛋白质组学和新的小鼠模型,深入了解 Hermansky-Pudlak 综合征-1 的肾脏病理生理学

Maynard Dawn M, Gochuico Bernadette R, Pri Chen Hadass, Bleck Christopher K E, Zerfas Patricia M, Introne Wendy J, Gahl William A, Malicdan May C V

Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation

甲基丙二酸血症伴脂肪营养不良与FGF21升高和甲基丙二酰化异常有关

Manoli, Irini; Sysol, Justin R; Head, PamelaSara E; Epping, Madeline W; Gavrilova, Oksana; Crocker, Melissa K; Sloan, Jennifer L; Koutsoukos, Stefanos A; Wang, Cindy; Ktena, Yiouli P; Mendelson, Sophia; Pass, Alexandra R; Zerfas, Patricia M; Hoffmann, Victoria; Vernon, Hilary J; Fletcher, Laura A; Reynolds, James C; Tsokos, Maria G; Stratakis, Constantine A; Voss, Stephan D; Chen, Kong Y; Brown, Rebecca J; Hamosh, Ada; Berry, Gerard T; Chen, Xiaoyuan Shawn; Yanovski, Jack A; Venditti, Charles P

CDK4-E2F3 signals enhance oxidative skeletal muscle fiber numbers and function to affect myogenesis and metabolism

CDK4-E2F3信号通路增强氧化型骨骼肌纤维的数量和功能,从而影响肌生成和代谢。

Bahn, Young Jae; Yadav, Hariom; Piaggi, Paolo; Abel, Brent S; Gavrilova, Oksana; Springer, Danielle A; Papazoglou, Ioannis; Zerfas, Patricia M; Skarulis, Monica C; McPherron, Alexandra C; Rane, Sushil G

Contributions of Diet and Age to Ulcerative Dermatitis in Female C57BL/6J Mice

饮食和年龄对雌性C57BL/6J小鼠溃疡性皮炎的影响

Gozalo, Alfonso S; Zerfas, Patricia M; Qin, Jing; Alves, Derron A; Akkaya, Munir; Peña, Mirna Y; Elkins, William R

Retrospective Study of Intercalated Disk Defects Associated with Dilated Cardiomyopathy, Atrial Thrombosis, and Heart Failure in BALB/c Mice Deficient in IL4 Receptor α

回顾性研究 BALB/c 小鼠 IL4 受体 α 缺陷型中与扩张型心肌病、心房血栓形成和心力衰竭相关的闰盘缺陷

Gozalo, Alfonso S; Zerfas, Patricia M; Elkins, William R; Gieseck, Richard L

Macrophage derived TNFα promotes hepatic reprogramming to Warburg-like metabolism

巨噬细胞衍生的TNFα促进肝脏重编程为类似瓦博格效应的代谢

Tarasenko, Tatyana N; Jestin, Maxim; Matsumoto, Shingo; Saito, Keita; Hwang, Sean; Gavrilova, Oksana; Trivedi, Niraj; Zerfas, Patricia M; Barca, Emanuele; DiMauro, Salvatore; Senac, Julien; Venditti, Charles P; Cherukuri, Murali; McGuire, Peter J

Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism

双等位基因TMEM94截断变异与神经发育迟缓、先天性心脏缺陷和独特的面部畸形有关

Stephen, Joshi; Maddirevula, Sateesh; Nampoothiri, Sheela; Burke, John D; Herzog, Matthew; Shukla, Anju; Steindl, Katharina; Eskin, Ascia; Patil, Siddaramappa J; Joset, Pascal; Lee, Hane; Garrett, Lisa J; Yokoyama, Tadafumi; Balanda, Nicholas; Bodine, Steven P; Tolman, Nathanial J; Zerfas, Patricia M; Zheng, Allison; Ramantani, Georgia; Girisha, Katta M; Rivas, Cecilia; Suresh, Pujar V; Elkahloun, Abdel; Alsaif, Hessa S; Wakil, Salma M; Mahmoud, Laila; Ali, Rehab; Prochazkova, Michaela; Kulkarni, Ashok B; Ben-Omran, Tawfeg; Colak, Dilek; Morris, H Douglas; Rauch, Anita; Martinez-Agosto, Julian A; Nelson, Stanley F; Alkuraya, Fowzan S; Gahl, William A; Malicdan, May Christine V

FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia

FGF21是甲基丙二酸血症中代谢应激的兴奋效应的基础。

Manoli, Irini; Sysol, Justin R; Epping, Madeline W; Li, Lina; Wang, Cindy; Sloan, Jennifer L; Pass, Alexandra; Gagné, Jack; Ktena, Yiouli P; Li, Lingli; Trivedi, Niraj S; Ouattara, Bazoumana; Zerfas, Patricia M; Hoffmann, Victoria; Abu-Asab, Mones; Tsokos, Maria G; Kleiner, David E; Garone, Caterina; Cusmano-Ozog, Kristina; Enns, Gregory M; Vernon, Hilary J; Andersson, Hans C; Grunewald, Stephanie; Elkahloun, Abdel G; Girard, Christiane L; Schnermann, Jurgen; DiMauro, Salvatore; Andres-Mateos, Eva; Vandenberghe, Luk H; Chandler, Randy J; Venditti, Charles P

Fusion of lysosomes with secretory organelles leads to uncontrolled exocytosis in the lysosomal storage disease mucolipidosis type IV

溶酶体与分泌细胞器的融合会导致溶酶体贮积症IV型中不受控制的胞吐作用。

Park, Soonhong; Ahuja, Malini; Kim, Min Seuk; Brailoiu, G Cristina; Jha, Archana; Zeng, Mei; Baydyuk, Maryna; Wu, Ling-Gang; Wassif, Christopher A; Porter, Forbes D; Zerfas, Patricia M; Eckhaus, Michael A; Brailoiu, Eugen; Shin, Dong Min; Muallem, Shmuel