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

DUX4-induced HSATII RNA accumulation drives protein aggregation, impacting RNA processing pathways.

DUX4 诱导的 HSATII RNA 积累驱动蛋白质聚集,影响 RNA 加工途径。

Arends Tessa, Bennett Sean R, Tapscott Stephen J

Facioscapulohumeral Dystrophy: Molecular Basis and Therapeutic Opportunities

面肩肱型肌营养不良症:分子基础和治疗机遇

Arends, Tessa; Hamm, Danielle C; van der Maarel, Silvère; Tapscott, Stephen J

Multi-scale machine learning model predicts muscle and functional disease progression

多尺度机器学习模型预测肌肉和功能性疾病进展

Blemker, Silvia S; Riem, Lara; DuCharme, Olivia; Pinette, Megan; Costanzo, Kathryn Eve; Weatherley, Emma; Statland, Jeff; Tapscott, Stephen J; Wang, Leo H; Shaw, Dennis W W; Song, Xing; Leung, Doris; Friedman, Seth D

A discrete region of the D4Z4 is sufficient to initiate epigenetic silencing.

D4Z4 的一个特定区域足以启动表观遗传沉默

Paatela Ellen M, St Amant Faith G, Hamm Danielle C, Bennett Sean R, Gujral Taranjit S, van der Maarel Silvère M, Tapscott Stephen J

AI driven analysis of MRI to measure health and disease progression in FSHD

利用人工智能驱动的MRI分析来评估FSHD患者的健康状况和疾病进展。

Riem, Lara; DuCharme, Olivia; Cousins, Matthew; Feng, Xue; Kenney, Allison; Morris, Jacob; Tapscott, Stephen J; Tawil, Rabi; Statland, Jeff; Shaw, Dennis; Wang, Leo; Walker, Michaela; Lewis, Leann; Jacobs, Michael A; Leung, Doris G; Friedman, Seth D; Blemker, Silvia S

Regional and bilateral MRI and gene signatures in facioscapulohumeral dystrophy: implications for clinical trial design and mechanisms of disease progression

面肩肱型肌营养不良症的区域性和双侧MRI及基因特征:对临床试验设计和疾病进展机制的启示

Wong, Chao-Jen; Friedman, Seth D; Snider, Lauren; Bennett, Sean R; Jones, Takako I; Jones, Peter L; Shaw, Dennis W W; Blemker, Silvia S; Riem, Lara; DuCharme, Olivia; Lemmers, Richard J F L; van der Maarel, Silvère M; Wang, Leo H; Tawil, Rabi; Statland, Jeffrey M; Tapscott, Stephen J

Facioscapulohumeral muscular dystrophy: the road to targeted therapies

面肩肱型肌营养不良症:靶向治疗之路

Tihaya, Mara S; Mul, Karlien; Balog, Judit; de Greef, Jessica C; Tapscott, Stephen J; Tawil, Rabi; Statland, Jeffrey M; van der Maarel, Silvère M

Human DUX4 and porcine DUXC activate similar early embryonic programs in pig muscle cells: implications for preclinical models of FSHD

人源DUX4和猪源DUXC在猪肌肉细胞中激活相似的早期胚胎程序:对FSHD临床前模型的启示

Nip, Yee; Bennett, Sean R; Smith, Andrew A; Jones, Takako I; Jones, Peter L; Tapscott, Stephen J

Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene

10q染色体连锁的FSHD已确定DUX4为主要致病基因。

Lemmers, Richard J L F; van der Vliet, Patrick J; Blatnik, Ana; Balog, Judit; Zidar, Janez; Henderson, Don; Goselink, Rianne; Tapscott, Stephen J; Voermans, Nicol C; Tawil, Rabi; Padberg, George W A M; van Engelen, Baziel Gm; van der Maarel, Silvère M

Canine DUXC: implications for DUX4 retrotransposition and preclinical models of FSHD

犬类DUXC:对DUX4逆转座和FSHD临床前模型的影响

Wong, Chao-Jen; Whiddon, Jennifer L; Langford, Ashlee T; Belleville, Andrea E; Tapscott, Stephen J