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ProteomicsControl of retrotransposon-driven activation of the interferon response by the double-stranded RNA binding protein DGCR8
The type I interferon (IFN) response is the main innate immune pathway against viruses in mammals. This pathway must be tightly regulated to prevent viral spread while avoiding excessive immune responses. Here, we show that inactivation of the double stranded RNA (dsRNA)-binding protein DGCR8 unleas...
ORGANISM(S): Homo sapiens (Human) 
2026-02-12 | PXD074388 | Pride
Interferon response Transposable elements 22qds Human Dsrna Dgcr8 Stem cells Mouse Pa-1 
TranscriptomicsT cell transriptome in chromosome 22q11.2 deletion syndrome
We performed transcriptome analysis via RNA sequencing of T cells isolated from participants with and without 22qDS and T cells of 22qDS participants with low or normal number of T cells.
ORGANISM(S): Homo sapiens 
2022-06-23 | GSE184790 | GEO
TranscriptomicsNeurovascular mitochondrial susceptibility impacts blood-brain barrier function and behavior
Maintenance of blood-brain barrier (BBB) integrity is critical to optimal brain function, and its impairment has been linked to multiple neurological disorders. A notable feature of the BBB is its elevated mitochondrial content compared to peripheral endothelial cells, although the functional implic...
ORGANISM(S): Mus musculus 
2025-12-02 | GSE288072 | GEO
GenomicsDGCR8 haploinsufficiency leads to primate-specific RNA dysregulation and pluripotency defects
The 22q11.2 deletion syndrome (22qDS) is caused by a microdeletion in one of the chromosomes 22, comprising around 40 genes and including DGCR8, an essential gene for miRNA biogenesis and transposable elements control. Most of the clinical manifestations of 22qDS have their origin during embryonic d...
ORGANISM(S): Homo sapiens 
2025-02-14 | GSE209771 | GEO
TranscriptomicsDGCR8 haploinsufficiency leads to primate-specific RNA dysregulation and pluripotency defects
The 22q11.2 deletion syndrome (22qDS) is caused by a microdeletion in one of the chromosomes 22, comprising around 40 genes and including DGCR8, an essential gene for miRNA biogenesis and transposable elements control. Most of the clinical manifestations of 22qDS have their origin during embryonic d...
ORGANISM(S): Homo sapiens 
2025-02-14 | GSE209770 | GEO
UnknownDisruption of the blood-brain barrier in 22q11.2 deletion syndrome.
Not available
S-EPMC8219368 | biostudies-literature
UnknownBezafibrate improves mitochondrial function, blood-brain barrier integrity, and social deficits in models of 22q11.2 deletion syndrome.
Not available
S-EPMC12535687 | biostudies-literature
UnknownUrinary metabolomic profiling in 22q11.2 deletion syndrome reveals microbial and mitochondrial signatures related to autism and psychosis risk.
Not available
S-EPMC12673154 | biostudies-literature
TranscriptomicsDGCR8 controls retrotransposon-derived double-stranded RNA accumulation and interferon activation
The type I interferon (IFN) response is the main innate immune pathway against viruses in mammals and must be tightly regulated to stop viral spread without excessive immune reaction. Here, we show that inactivation of the double-stranded RNA (dsRNA)-binding protein DGCR8 unleashes the IFN response ...
ORGANISM(S): Homo sapiens 
2026-02-03 | GSE294748 | GEO
UnknownModular, Circuit-Based Interventions Rescue Hippocampal-Dependent Social and Spatial Memory in a 22q11.2 Deletion Syndrome Mouse Model.
Not available
S-EPMC7554065 | biostudies-literature
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