INTRODUCTION Advancing whole-genome precision medicine requires understanding
how gene expression is altered by genetic variants, especially those that are far outside of …

Splicing factor SRSF1 is upregulated in human breast tumors, and its overexpression
promotes transformation of mammary cells. Using RNA-seq, we identified SRSF1-regulated …

The survival motor neuron (SMN) protein forms cytoplasmic granules when overexpressed.
We report here that SMN co-localizes with TIA-1/R and G3BP, protein assemblers of stress …

Spinal muscular atrophy (SMA) is a motor neuron disease and the leading genetic cause of
infant mortality; it results from loss-of-function mutations in the survival motor neuron 1 (SMN1…

Increasing survival of motor neuron 2, centromeric (SMN2) exon 7 inclusion to express more
full-length SMN protein in motor neurons is a promising approach to treat spinal muscular …

survival of motor neuron 2, centromeric (SMN2) is a gene that modifies the severity of spinal
muscular atrophy (SMA), a motor-neuron disease that is the leading genetic cause of infant …

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused
by mutations in the SMN1 gene that result in a deficiency of SMN protein. One approach to …

Several strategies have been pursued to increase the extent of exon 7 inclusion during
splicing of SMN2 (survival of motor neuron 2) transcripts, for eventual therapeutic use in spinal …

Spinal muscular atrophy (SMA) is a common autosomal-recessive motor neuron disease
caused by the homozygous loss of the SMN1 gene. A nearly identical gene, SMN2, has been …

Spinal muscular atrophy (SMA) is a debilitating neuromuscular disease caused by the loss
of survival of motor neuron (SMN) protein. Previously, we demonstrated that ISIS 396443, an …