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TranscriptomicsDICER1 hotspot mutations cause defective miRNA processing
Recurrent somatic hotspot mutations of DICER1 appear to be clustered around each of four critical metal binding residues in the RNase IIIB domain of DICER1. This domain is responsible for cleavage of the 3’ end of the 5p-miRNA strand of a pre-mRNA hairpin. To investigate the effects of these cancer-...
ORGANISM(S): Mus musculus 
2012-10-01 | E-GEOD-40965 | biostudies-arrayexpress
GenomicsA hotspot mutation p.L162R in IKZF3 drives leukemogenesis via transcriptional dysregulation
A hotspot mutation p.L162R in IKZF3 drives leukemogenesis via transcriptional dysregulation
PRJNA601427 | ENA
ProteomicsHotspot DNMT3A and IDH1/2 Mutations in Acute Myeloid Leukemia and Their Relevance as Targets for Immunotherapy
DNA methyltransferase 3A (DNMT3A) and isocitrate dehydrogenase 1 & 2 (IDH1/2) are genes involved in epigenetic regulation, each mutated in 7-23% of acute myeloid leukemia (AML). Here, we investigated whether hotspot mutations in these genes encode neoantigens that can be targeted by immunotherapy. F...
ORGANISM(S): Homo sapiens (Human) 
2024-06-23 | PXD050560 | Pride
Hotspot mutation Iso-citrate dehydrogenase 2 Dna methyltransferase 3a Cancer immunotherapy Acute myeloid leukemia Neoantigen T-cell therapy 
TranscriptomicsMutations in the SIX1/2 pathway and the DROSHA/DGCR8 miRNA microprocessor complex underlie high-risk blastemal type Wilms tumors
Blastemal histology in chemotherapy-treated pediatric Wilms tumors (nephroblastoma) is associated with adverse prognosis. To uncover the underlying tumor biology and find novel therapeutic leads for this subgroup of patients, we analyzed 58 blastemal-type Wilms tumors by exome and transcriptome sequ...
ORGANISM(S): Homo sapiens 
2015-02-18 | E-GEOD-60081 | biostudies-arrayexpress
GenomicsHuman Dicer hotspot mutation induces both loss and gain of miRNA function [iCLIP]
Human Dicer hotspot mutation induces both loss and gain of miRNA function [iCLIP]
PRJNA1148191 | ENA
GenomicsHuman Dicer hotspot mutation induces both loss and gain of miRNA function [sRNA-seq]
Human Dicer hotspot mutation induces both loss and gain of miRNA function [sRNA-seq]
PRJNA1148188 | ENA
GenomicsHuman Dicer hotspot mutation induces both loss and gain of miRNA function [RNA-seq]
Human Dicer hotspot mutation induces both loss and gain of miRNA function [RNA-seq]
PRJNA1148192 | ENA
ProteomicsMitochondrial ribosomal RNA is the target of functionally dominant hotspot mutations in cancer
The vast majority of recurrent somatic mutations arising in tumors affect protein-coding genes in the nuclear genome. Here, through population-scale analysis of 14,079 whole tumor genomes, we report the discovery of highly recurrent mutations affecting both the small (12S, MT-RNR1) and large (16S, M...
ORGANISM(S): Homo sapiens (Human) 
2025-09-11 | PXD057390 | Pride
Mitochondrial dna mutation Heteroplasmy Cancer Mt-rnr1 M.1227g>a 
OtherPathogenic DICER1 RNase IIIb Hotspot Mutation Induces 3p-miRNA Gain-of-Function via Argonaute Strand Switch [CLASH]
Dicer is an essential enzyme in microRNA biogenesis. Mutations in the DICER1 gene are linked to various cancers, notably through the DICER1 syndrome. To investigate the impact of the pathogenic hotspot mutations in DICER1-associated tumors, we introduced a hotspot mutation into the endogenous Dicer1...
ORGANISM(S): Mus musculus 
2025-07-18 | GSE279636 | GEO
GenomicsA hotspot mutation targeting the R-RAS2 GTPase acts as a potent oncogenic driver in a wide spectrum of tumors
A hotspot mutation targeting the R-RAS2 GTPase acts as a potent oncogenic driver in a wide spectrum of tumors
PRJNA743644 | ENA
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