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TranscriptomicsAberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome
Somatic mutations in the spliceosome gene ZRSR2 (located on the X chromosome) are associated with myelodysplastic syndrome (MDS). ZRSR2 is involved in the recognition of 3' splice site during the early stages of spliceosome assembly; however, its precise role in RNA splicing has remained unclear. He...
ORGANISM(S): Homo sapiens 
2015-01-15 | E-GEOD-63816 | biostudies-arrayexpress
TranscriptomicsRegulation of constitutive and alternative splicing by PRMT5 reveals a role for Mdm4 pre-mRNA in sensing defects in the spliceosomal machinery (RNA-Seq)
Protein Arginine MethylTransferase 5 (PRMT5) is known to mediate epigenetic control on chromatin and to functionally regulate components of the splicing machinery. In this study we show that selective deletion of PRMT5 in different organs leads to cell cycle arrest and apoptosis. At the molecular le...
ORGANISM(S): Mus musculus 
2013-09-13 | E-GEOD-45284 | biostudies-arrayexpress
TranscriptomicsAlternative splicing profiling of human breast cancer cell lines.
We assessed alternative splicing in breast cancer through global profiling of transcriptomes of basal and luminal subtype cell lines using Affymetrix Human Junction Array.
ORGANISM(S): Homo sapiens 
2010-06-15 | E-MTAB-183 | biostudies-arrayexpress
TranscriptomicsIntragenic DNA methylation modulates alternative splicing by recruiting MeCP2 to promote exon recognition [RNA-Seq]
Although the function of DNA methylation in gene promoter regions is well established in transcriptional repression, the function of the evolutionarily conserved widespread distribution of DNA methylation in gene body regions remains incompletely understood. Here, we show that DNA methylation is enr...
ORGANISM(S): Homo sapiens 
2013-08-13 | E-GEOD-47488 | biostudies-arrayexpress
TranscriptomicsDetermining the impact of alternative splicing events on transcriptome dynamics
Background The complete sequencing of the human genome and its subsequent analysis revealed a predominant role for alternative splicing in the generation of proteome diversity. Splice switching oligonucleotides (SSOs) are a powerful and specific tool to experimentally control alternative splicing of...
ORGANISM(S): Homo sapiens 
2008-10-02 | E-GEOD-9851 | biostudies-arrayexpress
TranscriptomicsGenomewide analysis of QKI-dependent alternative splicing
To identify QKI targets, we performed QKI knockdown in BEAS2B cells and analyzed alternative splicing patterns by high-throughput RNA sequencing. The mRNA profiles of control- and QKI-knockdown BEAS2B cells were generated by deep sequencing using Illumina GAIIx sequencer.
ORGANISM(S): Homo sapiens 
2014-04-14 | E-GEOD-55215 | biostudies-arrayexpress
GenomicsIntragenic DNA methylation modulates alternative splicing by recruiting MeCP2 to promote exon recognition [ChIP-Seq]
Although the function of DNA methylation in gene promoter regions is well established in transcriptional repression, the function of the evolutionarily conserved widespread distribution of DNA methylation in gene body regions remains incompletely understood. Here, we show that DNA methylation is enr...
ORGANISM(S): Homo sapiens 
2013-08-13 | E-GEOD-47677 | biostudies-arrayexpress
ProteomicsAberrant splicing isoforms detected by full-length transcriptome sequencing as transcripts of potential neoantigens in non-small cell lung cancer
To identify aberrant splicing isoforms and potential neoantigens, we performed full-length cDNA sequencing of lung adenocarcinoma cell lines using a long-read sequencer MinION. We constructed a comprehensive catalog of aberrant splicing isoforms and detected isoform-specific peptides using proteome ...
ORGANISM(S): Homo Sapiens (human) 
2020-12-09 | PXD019915 | JPOST Repository
TranscriptomicsDysregulated expression and alternative splicing of genes controlling neuritogenesis and axon guidance revealed by exon-sensitive microarrays in models of neurodegeneration
This SuperSeries is composed of the following subset Series: GSE21298: Profiling wt SOD versus ALS SOD1(G93A) mutant GSE21305: Profiling neuroblastoma SH-SY5Y with Paraquat treatment Mitochondrial dysfunction has been directly or indirectly implicated in the pathogenesis of a number of neurodegener...
ORGANISM(S): Homo sapiens 
2010-12-22 | E-GEOD-21450 | biostudies-arrayexpress
TranscriptomicsRegulation of constitutive and alternative splicing by PRMT5 reveals a role for Mdm4 pre-mRNA in sensing defects in the spliceosomal machinery (BeadChip)
Protein Arginine MethylTransferase 5 (PRMT5) is known to mediate epigenetic control on chromatin and to functionally regulate components of the splicing machinery. In this study we show that selective deletion of PRMT5 in different organs leads to cell cycle arrest and apoptosis. At the molecular le...
ORGANISM(S): Mus musculus 
2013-09-13 | E-GEOD-45269 | biostudies-arrayexpress
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