Mislocalization of pathogenic RBM20 variants in dilated cardiomyopathy is caused by loss-of-interaction with Transportin-3

J Kornienko, M Rodríguez-Martínez, K Fenzl… - Nature …, 2023 - nature.com
Severe forms of dilated cardiomyopathy (DCM) are associated with point mutations in the
alternative splicing regulator RBM20 that are frequently located in the arginine/serine-rich …

Mapping alternative splicing events in colorectal cancer

Y Zheng, G Zhong, Q Song, H Zhang, S Wang, C Lin… - Discover Oncology, 2024 - Springer
Although aberrant splicing events of genes are closely related to the development and
progression of colorectal cancer (CRC), the mapping of abnormal splicing events, especially …

[HTML][HTML] RBM20 基因在扩张型心肌病中表达的研究进展

林欣 - Chinese Journal of Contemporary Pediatrics, 2023 - ncbi.nlm.nih.gov
扩张型心肌病( dilated cardiomyopathy, DCM) 是心力衰竭重要的原因之一,
任何阶段均可出现严重的心血管事件, 导致猝死。 RNA 结合基序蛋白20( RNA-binding motif …

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

A Töpf, D Cox, IT Zaharieva, V Di Leo, J Sarparanta… - Nature Genetics, 2024 - nature.com
In digenic inheritance, pathogenic variants in two genes must be inherited together to cause
disease. Only very few examples of digenic inheritance have been described in the …

Research progress on the expression of the RBM20 gene in dilated cardiomyopathy

X Lin - Zhongguo Dang dai er ke za zhi= Chinese Journal of …, 2023 - europepmc.org
扩张型心肌病 (dilated cardiomyopathy, DCM) 是心力衰竭重要的原因之一,
任何阶段均可出现严重的心血管事件, 导致猝死. RNA 结合基序蛋白 20 (RNA-binding motif …