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 …

Context-dependent control of alternative splicing by RNA-binding proteins

XD Fu, M Ares Jr - Nature Reviews Genetics, 2014 - nature.com
Sequence-specific RNA-binding proteins (RBPs) bind to pre-mRNA to control alternative
splicing, but it is not yet possible to read the'splicing code'that dictates splicing regulation on …

Identification of common genetic risk variants for autism spectrum disorder

J Grove, S Ripke, TD Als, M Mattheisen, RK Walters… - Nature …, 2019 - nature.com
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …

A day in the life of the spliceosome

AG Matera, Z Wang - Nature reviews Molecular cell biology, 2014 - nature.com
One of the most amazing findings in molecular biology was the discovery that eukaryotic
genes are discontinuous, with coding DNA being interrupted by stretches of non-coding …

Efficient, specific, and combinatorial control of endogenous exon splicing with dCasRx-RBM25

JD Li, M Taipale, BJ Blencowe - Molecular Cell, 2024 - cell.com
Efficient targeted control of splicing is a major goal of functional genomics and therapeutic
applications. Guide (g) RNA-directed, deactivated (d) Cas CRISPR enzymes fused to …

Aberrant RNA splicing in cancer; expression changes and driver mutations of splicing factor genes

A Sveen, S Kilpinen, A Ruusulehto, RA Lothe… - Oncogene, 2016 - nature.com
Alternative splicing is a widespread process contributing to structural transcript variation and
proteome diversity. In cancer, the splicing process is commonly disrupted, resulting in both …

[HTML][HTML] Alternative splicing in the mammalian nervous system: recent insights into mechanisms and functional roles

B Raj, BJ Blencowe - Neuron, 2015 - cell.com
High-throughput transcriptomic profiling approaches have revealed that alternative splicing
(AS) of precursor mRNAs, a fundamental process by which cells expand their transcriptomic …

A highly conserved program of neuronal microexons is misregulated in autistic brains

M Irimia, RJ Weatheritt, JD Ellis, NN Parikshak… - Cell, 2014 - cell.com
Alternative splicing (AS) generates vast transcriptomic and proteomic complexity. However,
which of the myriad of detected AS events provide important biological functions is not well …

Intron retention as a component of regulated gene expression programs

AG Jacob, CWJ Smith - Human genetics, 2017 - Springer
Intron retention has long been an exemplar of regulated splicing with case studies of
individual events serving as models that provided key mechanistic insights into the process …

Expansion of the eukaryotic proteome by alternative splicing

TW Nilsen, BR Graveley - Nature, 2010 - nature.com
The collection of components required to carry out the intricate processes involved in
generating and maintaining a living, breathing and, sometimes, thinking organism is …