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 …

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 …

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 …

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 …

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

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 …

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 …

The aim of this study was to determine the maximum tolerated dose, dose-limiting toxicities,
and pharmacokinetic profile of E7107 in patients with advanced solid tumors. Patients in this …

Pre-messenger RNA (pre-mRNA) splicing is a central step in gene expression. Lying
between transcription and protein synthesis, pre-mRNA splicing removes sequences …

purpose. To survey families with clinical evidence of autosomal dominant retinitis
pigmentosa (adRP) for mutations in genes known to cause adRP. methods. Two hundred …