The physiology of alternative splicing

LE Marasco, AR Kornblihtt - Nature Reviews Molecular Cell Biology, 2023 - nature.com
Alternative splicing is a substantial contributor to the high complexity of transcriptomes of
multicellular eukaryotes. In this Review, we discuss the accumulated evidence that most of …

[HTML][HTML] Alternative splicing and cancer: a systematic review

Y Zhang, J Qian, C Gu, Y Yang - Signal transduction and targeted …, 2021 - nature.com
The abnormal regulation of alternative splicing is usually accompanied by the occurrence
and development of tumors, which would produce multiple different isoforms and diversify …

Precise genomic editing of pathogenic mutations in RBM20 rescues dilated cardiomyopathy

T Nishiyama, Y Zhang, M Cui, H Li… - Science translational …, 2022 - science.org
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 …

Cardiomyocyte maturation: new phase in development

Y Guo, WT Pu - Circulation research, 2020 - Am Heart Assoc
Maturation is the last phase of heart development that prepares the organ for strong,
efficient, and persistent pumping throughout the mammal's lifespan. This process is …

Research priorities for heart failure with preserved ejection fraction: national heart, lung, and blood institute working group summary

SJ Shah, BA Borlaug, DW Kitzman, AD McCulloch… - Circulation, 2020 - Am Heart Assoc
Heart failure with preserved ejection fraction (HFpEF), a major public health problem that is
rising in prevalence, is associated with high morbidity and mortality and is considered to be …

Alternative splicing as a regulator of development and tissue identity

FE Baralle, J Giudice - Nature reviews Molecular cell biology, 2017 - nature.com
Alternative splicing of eukaryotic transcripts is a mechanism that enables cells to generate
vast protein diversity from a limited number of genes. The mechanisms and outcomes of …

Dilated cardiomyopathy: genetic determinants and mechanisms

EM McNally, L Mestroni - Circulation research, 2017 - Am Heart Assoc
Nonischemic dilated cardiomyopathy (DCM) often has a genetic pathogenesis. Because of
the large number of genes and alleles attributed to DCM, comprehensive genetic testing …

The N6-Methyladenosine mRNA Methylase METTL3 Controls Cardiac Homeostasis and Hypertrophy

LE Dorn, L Lasman, J Chen, X Xu, TJ Hund… - Circulation, 2019 - Am Heart Assoc
Background: N 6-Methyladenosine (m6A) methylation is the most prevalent internal
posttranscriptional modification on mammalian mRNA. The role of m6A mRNA methylation …

RNA mis-splicing in disease

MM Scotti, MS Swanson - Nature Reviews Genetics, 2016 - nature.com
The human transcriptome is composed of a vast RNA population that undergoes further
diversification by splicing. Detecting specific splice sites in this large sequence pool is the …

Circular RNAs open a new chapter in cardiovascular biology

S Aufiero, YJ Reckman, YM Pinto… - Nature Reviews …, 2019 - nature.com
Circular RNAs (circRNAs) are emerging as a new class of non-coding RNA molecules. This
unusual class of RNA species is generated by a back-splicing event of one or two exons …