The rapid evolution of gene editing technology has markedly improved the outlook for
treating genetic diseases. Base editing, recognized as an exceptionally precise genetic …

RNA splicing is an important RNA processing step required by multiexon protein-coding
mRNAs and some noncoding RNAs. Precise RNA splicing is required for maintaining gene …

Human induced pluripotent stem cell (iPSC) platforms are valuable for biomedical and
pharmaceutical research by providing tissue-specific human cells that retain patients' …

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 …

The post-transcriptional regulation of gene expression plays an important role in heart
development and disease. Cardiac-specific alternative splicing, mediated by RNA-binding …

Genomic variation ranging from single nucleotide polymorphisms to structural variants can
impact gene function and expression, contributing to disease mechanisms such as cancer …

Congenital heart disease (CHD) is the most common birth defect affecting> 1.35 million
newborn babies worldwide. CHD can lead to prenatal, neonatal, postnatal lethality or life …

Objev molekulární podstaty Rotorova syndromu spočívající v současné bialelické inaktivaci
obou genů SLCO1B1 a SLCO1B3 kódujících jaterní transportéry OATP1B1 a OATP1B3 a již …