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

Lmod2 is necessary for effective skeletal muscle contraction

Lmod2 是有效骨骼肌收缩所必需的

Tania M Larrinaga, Gerrie P Farman, Rachel M Mayfield, Michaela Yuen, Rebecca C Ahrens-Nicklas, Sandra T Cooper, Christopher T Pappas, Carol C Gregorio

SpliceVault predicts the precise nature of variant-associated mis-splicing

SpliceVault 预测变异相关错误剪接的精确性质

Ruebena Dawes #, Adam M Bournazos #, Samantha J Bryen, Shobhana Bommireddipalli, Rhett G Marchant, Himanshu Joshi, Sandra T Cooper

Minimal expression of dysferlin prevents development of dysferlinopathy in dysferlin exon 40a knockout mice

dysferlin 的最低限度表达可防止 dysferlin 外显子 40a 基因敲除小鼠发生 dysferlin 病

Joe Yasa, Claudia E Reed, Adam M Bournazos, Frances J Evesson, Ignatius Pang, Mark E Graham, Jesse R Wark, Brunda Nijagal, Kim H Kwan, Thomas Kwiatkowski, Rachel Jung, Noah Weisleder, Sandra T Cooper, Frances A Lemckert1

Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders

两个家族中的结缔组织表现扩大了 PYROXD1 疾病的表型谱

Frances J Evesson, Gregory Dziaduch, Samantha J Bryen, Francesca Moore, Sara Pittman, Beena Devanapalli, Leigh B Waddell, Monique M Ryan, Manoj P Menezes, Conrad C Weihl, Adviye Ayper Tolun, Craig Zaidman, Helen Young, Lesley C Adès, Sandra T Cooper

Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant

病例报告:因新的纯合 LAMA2 错义变异导致同胞患上成人发病的肢带型肌营养不良症

Matthew Katz, Leigh B Waddell, Michaela Yuen, Samantha J Bryen, Emily Oates, Fleur C Garton, Thomas Robertson, Robert David Henderson, Sandra T Cooper, Pamela A McCombe

Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant

因纯合 LMOD2 供体剪接位点变异导致的新生儿致死性扩张型心肌病

Michaela Yuen #, Lisa Worgan #, Jessika Iwanski, Christopher T Pappas, Himanshu Joshi, Jared M Churko, Susan Arbuckle, Edwin P Kirk, Ying Zhu, Tony Roscioli, Carol C Gregorio, Sandra T Cooper

Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone

破坏 AG 排斥区的剪接受体变异的流行率、参数和致病机制

Samantha J Bryen, Michaela Yuen, Himanshu Joshi, Ruebena Dawes, Katharine Zhang, Jessica K Lu, Kristi J Jones, Christina Liang, Wui-Kwan Wong, Anthony J Peduto, Leigh B Waddell, Frances J Evesson, Sandra T Cooper

Loss of calpains-1 and -2 prevents repair of plasma membrane scrape injuries, but not small pores, and induces a severe muscular dystrophy

钙蛋白酶-1和-2的缺失会阻止质膜擦伤的修复,但不会阻止小孔的修复,并诱发严重的肌营养不良症

Ann-Katrin Piper, Reece A Sophocleous, Samuel E Ross, Frances J Evesson, Omar Saleh, Adam Bournazos, Joe Yasa, Claudia Reed, Natalie Woolger, Ronald Sluyter, Peter Greer, Maté Biro, Frances A Lemckert, Sandra T Cooper

Mice with myocyte deletion of vitamin D receptor have sarcopenia and impaired muscle function

肌细胞中维生素 D 受体缺失的小鼠会出现肌肉减少症和肌肉功能受损

Christian M Girgis, Kuan Minn Cha, Benjamin So, Michael Tsang, Jennifer Chen, Peter J Houweling, Aaron Schindeler, Rebecca Stokes, Michael M Swarbrick, Frances J Evesson, Sandra T Cooper, Jenny E Gunton

Enzymatic cleavage of myoferlin releases a dual C2-domain module linked to ERK signalling

肌成纤维蛋白原的酶促裂解释放出与 ERK 信号传导相关的双 C2 结构域模块

Ann-Katrin Piper, Samuel E Ross, Gregory M Redpath, Frances A Lemckert, Natalie Woolger, Adam Bournazos, Peter A Greer, Roger B Sutton, Sandra T Cooper