Precise genomic editing of pathogenic mutations in RBM20 rescues dilated cardiomyopathy
Mutations in RNA binding motif protein 20 (RBM20) are a common cause of familial dilated
cardiomyopathy (DCM). Many RBM20 mutations cluster within an arginine/serine-rich (RS …
cardiomyopathy (DCM). Many RBM20 mutations cluster within an arginine/serine-rich (RS …
Splicing regulation through biomolecular condensates and membraneless organelles
Biomolecular condensates, sometimes also known as membraneless organelles (MLOs),
can form through weak multivalent intermolecular interactions of proteins and nucleic acids …
can form through weak multivalent intermolecular interactions of proteins and nucleic acids …
Mislocalization of pathogenic RBM20 variants in dilated cardiomyopathy is caused by loss-of-interaction with Transportin-3
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 …
alternative splicing regulator RBM20 that are frequently located in the arginine/serine-rich …
Mechanisms of RBM20 Cardiomyopathy: Insights From Model Systems
ZR Gregorich, Y Zhang, TJ Kamp… - Circulation: Genomic …, 2024 - Am Heart Assoc
RBM20 (RNA-binding motif protein 20) is a vertebrate-and muscle-specific RNA-binding
protein that belongs to the serine-arginine-rich family of splicing factors. The RBM20 gene …
protein that belongs to the serine-arginine-rich family of splicing factors. The RBM20 gene …
Striated muscle-specific base editing enables correction of mutations causing dilated cardiomyopathy
M Grosch, L Schraft, A Chan, L Küchenhoff… - Nature …, 2023 - nature.com
Dilated cardiomyopathy is the second most common cause for heart failure with no cure
except a high-risk heart transplantation. Approximately 30% of patients harbor heritable …
except a high-risk heart transplantation. Approximately 30% of patients harbor heritable …
[HTML][HTML] RBM20 phosphorylation and its role in nucleocytoplasmic transport and cardiac pathogenesis
Abstract Arginine–serine (RS) domain (s) in splicing factors are critical for protein–protein
interaction in pre‐mRNA splicing. Phosphorylation of RS domain is important for splicing …
interaction in pre‐mRNA splicing. Phosphorylation of RS domain is important for splicing …
I536T variant of RBM20 affects splicing of cardiac structural proteins that are causative for developing dilated cardiomyopathy
T Yamamoto, R Sano, A Miura, M Imasaka… - Journal of Molecular …, 2022 - Springer
RBM20 is one of the genes predisposing to dilated cardiomyopathy (DCM). Variants in the
RS domain have been reported in many DCM patients, but the pathogenicity of variants …
RS domain have been reported in many DCM patients, but the pathogenicity of variants …
Fluid–structure interaction methods for the progressive anatomical and artificial aortic valve stenosis
M Nowak, E Divo, WP Adamczyk - International Journal of Mechanical …, 2022 - Elsevier
Cardiovascular system diseases, as aortic valve stenosis, are the main cause of mortality
and morbidity among patients. There is still a room for enhancement of the diagnostic and …
and morbidity among patients. There is still a room for enhancement of the diagnostic and …
[HTML][HTML] Disruption of the nuclear localization signal in RBM20 is causative in dilated cardiomyopathy
Human patients carrying genetic mutations in RNA binding motif 20 (RBM20) develop a
clinically aggressive dilated cardiomyopathy (DCM). Genetic mutation knockin (KI) animal …
clinically aggressive dilated cardiomyopathy (DCM). Genetic mutation knockin (KI) animal …
Multiscale model for blood flow after a bileaflet artificial aortic valve implantation
M Nowak, E Divo, WP Adamczyk - Computers in Biology and Medicine, 2023 - Elsevier
Cardiovascular diseases are the leading cause of mortality in the world, mainly due to
atherosclerosis and its consequences. The article presents the numerical model of the blood …
atherosclerosis and its consequences. The article presents the numerical model of the blood …