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GenomicsTRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism
DNA lesions encountered by replicative polymerases threaten genome stability and cell cycle progression. Here we report the identification of mutations in TRAIP, encoding an E3 RING ubiquitin ligase, in patients with microcephalic primordial dwarfism/Seckel syndrome. We establish that TRAIP relocali...
EGAS00001001501 | EGA
UnknownTRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.
Not available
S-EPMC4697364 | biostudies-literature
Genomicsena-DATASET-MRCHGUIGMM-07-10-2015-09:16:27:050-356 - samples
BAM files for two WES TRAIP patients
EGAD00001001633 | EGA
GenomicsMRC HGU IGMM Edinburgh DAC
Data Access Committee EGAC00001000393
EGAC00001000393 | EGA
TranscriptomicsDefective removal of ribonucleotides from DNA promotes systemic autoimmunity
Constitutive low level DNA damage in RNASEH2 deficiency is linked to innate immune activation. Hierarchical clustering of over 16000 transcripts revealed remarkably similar profiles in patients with lupus erythematosus and patients with AGS with up-regulation of genes involved in DNA damage signalin...
ORGANISM(S): Homo sapiens 
2014-12-15 | E-GEOD-63755 | biostudies-arrayexpress
UnknownEffect of Hydroxychloroquine in Hospitalized Patients with Covid-19.
Not available
S-EPMC7556338 | biostudies-literature
UnknownDexamethasone in Hospitalized Patients with Covid-19.
Not available
S-EPMC7383595 | biostudies-literature
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