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

ACTN3 genotype influences skeletal muscle mass regulation and response to dexamethasone

ACTN3 基因型影响骨骼肌质量调节和对地塞米松的反应

Jane T Seto, Kelly N Roeszler, Lyra R Meehan, Harrison D Wood, Chrystal Tiong, Lucinda Bek, Siaw F Lee, Manan Shah, Kate G R Quinlan, Paul Gregorevic, Peter J Houweling, Kathryn N North

Cullin-3 dependent deregulation of ACTN1 represents a new pathogenic mechanism in nemaline myopathy

ACTN1 的 Cullin-3 依赖性失调代表了线粒体肌病的一种新致病机制

Jordan Blondelle, Kavya Tallapaka, Jane T Seto, Majid Ghassemian, Madison Clark, Jenni M Laitila, Adam Bournazos, Jeffrey D Singer, Stephan Lange

The Effect of ACTN3 Gene Doping on Skeletal Muscle Performance

ACTN3基因兴奋剂对骨骼肌运动能力的影响

Fleur C Garton, Peter J Houweling, Damjan Vukcevic, Lyra R Meehan, Fiona X Z Lee, Monkol Lek, Kelly N Roeszler, Marshall W Hogarth, Chrystal F Tiong, Diana Zannino, Nan Yang, Stephen Leslie, Paul Gregorevic, Stewart I Head, Jane T Seto, Kathryn N North

Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion

ACTN3 杂合基因型分析表明,α-辅肌动蛋白-3 以剂量依赖性方式控制肌节组成和肌肉功能

Marshall W Hogarth, Fleur C Garton, Peter J Houweling, Taru Tukiainen, Monkol Lek, Daniel G Macarthur, Jane T Seto, Kate G R Quinlan, Nan Yang, Stewart I Head, Kathryn N North

ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling

ACTN3 基因型通过调节钙调神经磷酸酶信号传导影响肌肉性能

Jane T Seto, Kate G R Quinlan, Monkol Lek, Xi Fiona Zheng, Fleur Garton, Daniel G MacArthur, Marshall W Hogarth, Peter J Houweling, Paul Gregorevic, Nigel Turner, Gregory J Cooney, Nan Yang, Kathryn N North

Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy

神经黏附和神经肌肉连接蛋白——接触蛋白-1的突变会导致一种家族性致死性先天性肌病。

Alison G Compton ,Douglas E Albrecht, Jane T Seto, Sandra T Cooper, Biljana Ilkovski, Kristi J Jones, Daniel Challis, David Mowat, Barbara Ranscht, Melanie Bahlo, Stanley C Froehner, Kathryn N North