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

A novel dominant-negative variant of IRF8 in a mother and son: Clinical, phenotypic and biological characteristics

母子二人携带IRF8基因新型显性负性变异:临床、表型和生物学特征

Ham, Hyoungjun; Isham, Crescent R; Ristagno, Elizabeth H; Correia, Cristina; Ennis, Scott M; Kandasamy, Richard K; Garapati, Kishore; Zhang, Cheng; Kohlhagen, Mindy C; Sadighi Akha, Elham; Rodriguez-Quevedo, Maria F; Schultz, Destiny F; Chen, Baoyu; Boyce, Thomas G; Gregory, Seth W; Kohorst, Mira A; Dasari, Surendra; Murray, David L; Halling, Kevin C; Kipp, Benjamin R; Kumánovics, Attila; Li, Hu; Pandey, Akhilesh; Billadeau, Daniel D; Sadighi Akha, Amir A

Loss of HD-PTP function results in lipodystrophy, defective cellular signaling and altered lipid homeostasis.

HD-PTP 功能丧失会导致脂肪营养不良、细胞信号传导缺陷和脂质稳态改变

Schultz Destiny F, Davies Brian A, Payne Johanna A, Martin Cole P, Minard Annabel Y, Childs Bennett G, Zhang Cheng, Jeganathan Karthik B, Sturmlechner Ines, White Thomas A, de Bruin Alain, Harkema Liesbeth, Chen Huiqin, Davies Michael A, Jachim Sarah, LeBrasseur Nathan K, Piper Robert C, Li Hu, Baker Darren J, van Deursen Jan, Billadeau Daniel D, Katzmann David J

EGFR trafficking: effect of dimerization, dynamics, and mutation

EGFR转运:二聚化、动力学和突变的影响

Schultz, Destiny F; Billadeau, Daniel D; Jois, Seetharama D