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TranscriptomicsGene expression profiles of NIH3T3 cells stably transfected with the plasmids encoding the wild type PreS/S gene or the nonsense mutant gene (sW182*) of HBV.
Background and Aims: Whether hepatitis B virus (HBV) could play a direct role in hepatocarcinogenesis remains uncertain. The 3' end nonsense mutations of HBV PreS/S gene have been found to encode transcriptional transactivation activity, suggesting these mutations may contribute to HBV-associated on...
ORGANISM(S): Mus musculus 
2014-07-30 | E-GEOD-50180 | biostudies-arrayexpress
TranscriptomicsTargeted exome sequencing of 69 human melanoma brain metastases
In-depth information regarding the DFCI OncoPanel sequencing panel has been described previously. Briefly, sequencing is performed using an Illumina HiSeq 2500 system (RRID:SCR_016383) with 2×100 paired-end reads. Samples must meet an average 50X coverage and minimum of 30X coverage for 80% of targe...
ORGANISM(S): Homo sapiens 
2024-11-21 | E-MTAB-14575 | biostudies-arrayexpress
GenomicsNonviral delivery of chemically modified tRNA rescues nonsense mutations
Nonviral delivery of chemically modified tRNA rescues nonsense mutations
PRJNA1445317 | ENA
TranscriptomicsNonsense Mediated mRNA decay mutes the splicing defects of spliceosome component mutations
The role of many splicing factors in pre-mRNA splicing and the involvement of these factors in the processing of specific transcripts have often been defined through the analysis of loss of function mutants in vivo. Here we show that inactivating the nonsense mediated mRNA decay (NMD) results in an ...
ORGANISM(S): Saccharomyces cerevisiae 
2010-05-16 | E-GEOD-18288 | biostudies-arrayexpress
ProteomicsHuman tRNA genes enable differential nonsense suppression in live cells and a model of frontotemporal dementia
Nonsense mutations generate premature termination codons (PTCs) that are responsible for 11% of human genetic disease alleles. Thus, nonsense suppressor tRNAs have broad therapeutic potential. Humans encode > 600 tRNA genes with many identical or similar copies of each tRNA. We hypothesized that tRN...
ORGANISM(S): Homo sapiens (Human) 
2025-07-25 | PXD056053 | Pride
Therapeutics Live-cell fluorescent reporters Frontotemporal dementia Trna Nonsense suppression Progranulin Protein synthesis 
TranscriptomicsTranscription profiling of human colon cancer cell lines LS180 (MSI+) and SW480 (MSI-)
Inhibition of the nonsense mediated decay (NMD) mechanism in cells results in stabilization of transcripts carrying premature translation termination codons. A strategy referred to as gene indentification by NMD inhibition (GINI) has been proposed to identify genes carrying nonsense mutations (Noen...
ORGANISM(S): Homo sapiens 
2008-06-13 | E-GEOD-5486 | biostudies-arrayexpress
GenomicsNonviral delivery of chemically modified tRNA rescues nonsense mutations [Ribo-Seq]
Nonviral delivery of chemically modified tRNA rescues nonsense mutations [Ribo-Seq]
PRJNA1447567 | ENA
TranscriptomicsCommonly altered genomic regions in acute myeloid leukemia are enriched for somatic mutations involved in chromatin-remodeling and splicing
Acute myeloid leukemia (AML) is characterized by molecular heterogeneity. As commonly altered genomic regions point to candidate genes involved in leukemogenesis, we used microarray-based comparative genomic hybridization and single nucleotide polymorphism profiling data of 391 AML cases to further ...
ORGANISM(S): Homo sapiens 
2012-09-27 | E-GEOD-38987 | biostudies-arrayexpress
GenomicsTargeted pseudouridylation: A novel approach for suppressing nonsense mutations in disease genes
Targeted pseudouridylation: A novel approach for suppressing nonsense mutations in disease genes
PRJNA914726 | ENA
GenomicsEngineered tRNAs suppress nonsense mutations in cells and in vivo
Engineered tRNAs suppress nonsense mutations in cells and in vivo
PRJNA789542 | ENA
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