The human splicing code reveals new insights into the genetic determinants of disease
INTRODUCTION Advancing whole-genome precision medicine requires understanding
how gene expression is altered by genetic variants, especially those that are far outside of …
how gene expression is altered by genetic variants, especially those that are far outside of …
[PDF][PDF] SRSF1-regulated alternative splicing in breast cancer
…, NH Shirole, A Raimer, S Sun, MA Jensen, Y Hua… - Molecular cell, 2015 - cell.com
Splicing factor SRSF1 is upregulated in human breast tumors, and its overexpression
promotes transformation of mammary cells. Using RNA-seq, we identified SRSF1-regulated …
promotes transformation of mammary cells. Using RNA-seq, we identified SRSF1-regulated …
[HTML][HTML] Survival motor neuron protein facilitates assembly of stress granules
Y Hua, J Zhou - FEBS letters, 2004 - Elsevier
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 …
We report here that SMN co-localizes with TIA-1/R and G3BP, protein assemblers of stress …
Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model
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…
infant mortality; it results from loss-of-function mutations in the survival motor neuron 1 (SMN1…
Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model
Y Hua, K Sahashi, G Hung, F Rigo… - Genes & …, 2010 - genesdev.cshlp.org
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 …
full-length SMN protein in motor neurons is a promising approach to treat spinal muscular …
[PDF][PDF] Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice
Y Hua, TA Vickers, HL Okunola, CF Bennett… - The American Journal of …, 2008 - cell.com
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 …
muscular atrophy (SMA), a motor-neuron disease that is the leading genetic cause of infant …
Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy
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 …
by mutations in the SMN1 gene that result in a deficiency of SMN protein. One approach to …
[HTML][HTML] Enhancement of SMN2 Exon 7 Inclusion by Antisense Oligonucleotides Targeting the Exon
Y Hua, TA Vickers, BF Baker, CF Bennett… - PLoS biology, 2007 - journals.plos.org
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 …
splicing of SMN2 (survival of motor neuron 2) transcripts, for eventual therapeutic use in spinal …
[PDF][PDF] A positive modifier of spinal muscular atrophy in the SMN2 gene
TW Prior, AR Krainer, Y Hua, KJ Swoboda… - The American Journal of …, 2009 - cell.com
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 …
caused by the homozygous loss of the SMN1 gene. A nearly identical gene, SMN2, has been …
Pharmacology of a central nervous system delivered 2′-O-methoxyethyl–modified survival of motor neuron splicing oligonucleotide in mice and nonhuman primates
…, S Lee, J Matson, RA Fey, H Gaus, Y Hua… - … of Pharmacology and …, 2014 - ASPET
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 …
of survival of motor neuron (SMN) protein. Previously, we demonstrated that ISIS 396443, an …