During the last two to three decades, a large body of work has revealed the molecular basis
of many human disorders, including retinal and vitreoretinal degenerations and …

The precision and complexity of intron removal during pre-mRNA splicing still amazes even
26 years after the discovery that the coding information of metazoan genes is interrupted by …

Mutations in pre-mRNA processing factors (PRPFs) cause autosomal-dominant retinitis
pigmentosa (RP), but it is unclear why mutations in ubiquitously expressed genes cause non …

Human genes contain a dense array of diverse cis-acting elements that make up a code
required for the expression of correctly spliced mRNAs. Alternative splicing generates a …

Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic
disorders. We describe a whole-genome siRNA-based reverse genetics screen for defects …

Almost all protein-coding genes are spliced and their majority is alternatively spliced.
Alternative splicing is a key element in eukaryotic gene expression that increases the coding …

The precise excision of introns from pre-messenger RNA is performed by the spliceosome, a
macromolecular machine containing five small nuclear RNAs and numerous proteins. Much …

Precursor messenger RNA (pre-mRNA) splicing is catalyzed by an intricate
ribonucleoprotein complex called the spliceosome. Although the spliceosome is considered …

Alternative splicing is the major source of proteome diversity in humans and thus is highly
relevant to disease and therapy. For example, recent work suggests that the long-sought …

Retinal dystrophy (RD) is a heterogeneous group of hereditary diseases caused by loss of
photoreceptor function and contributes significantly to the etiology of blindness globally but …