The removal of introns from mRNA precursors and its regulation by alternative splicing are
key for eukaryotic gene expression and cellular function, as evidenced by the numerous …

Cancer has been a leading cause of death for decades. This dismal statistic has increased
efforts to prevent the disease or to detect it early, when treatment is less invasive, relatively …

Human pluripotent stem cells such as embryonic stem cells (ESCs) and induced pluripotent
stem cells (iPSCs) provide unprecedented opportunities for cell therapies against intractable …

Removal of introns from messenger RNA precursors (pre-mRNA splicing) is an essential
step for the expression of most eukaryotic genes. Alternative splicing enables the regulated …

The extent to which cells in normal tissues accumulate mutations throughout life is poorly
understood. Some mutant cells expand into clones that can be detected by genome …

The splicing of pre-mRNAs into mature transcripts is remarkable for its precision, but the
mechanisms by which the cellular machinery achieves such specificity are incompletely …

Alternative splicing is a tightly regulated process whereby non-coding sequences of pre-
mRNA are removed and protein-coding segments are assembled in diverse combinations …

The nonsense-mediated mRNA decay (NMD) pathway degrades some but not all mRNAs
bearing premature termination codons (PTCs). Decades of work have elucidated the …

Understanding the functional consequences of single-nucleotide variants is critical to
uncovering the genetic underpinnings of diseases, but technologies to characterize variants …

The recent genomic characterization of cancers has revealed recurrent somatic point
mutations and copy number changes affecting genes encoding RNA splicing factors. Initial …