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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
TranscriptomicsTranscription profiling of acteylcholine receptor immunization between RIIIS/J and B10.RIII mice
Comparison of acetylcholine receptor immunization between RIIIS/J and B10.RIII mice.
ORGANISM(S): Mus musculus 
2004-03-11 | E-MEXP-86 | biostudies-arrayexpress
TranscriptomicsTranscriptome of the maturing erythroblast
Understanding the pattern of gene expression and identifying the specific genes expressed during erythropoiesis is crucial for a synthesis of erythroid developmental biology. Here we have isolated four distinct populations of erythroblasts at successive erythropoietin-dependent stages of erythropoie...
ORGANISM(S): Homo sapiens 
2011-03-02 | E-GEOD-22552 | biostudies-arrayexpress
GenomicsA SNF2 protein targets variable copy number repeats and thereby influences allele-specific expression
ATRX is an X-linked gene of the SWI/SNF family whose role in vivo is currently unknown. Mutations in ATRX cause syndromal mental retardation. ATRX binds to tandem repeat (TR) sequences both in heterochromatin (e.g. telomeres) and euchromatin. Genes associated with these TRs can be dysregulated when ...
ORGANISM(S): Homo sapiens 
2010-11-02 | E-GEOD-22162 | biostudies-arrayexpress
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
TranscriptomicsAffect of antiviral ribavirin on YFV WT and vaccine strains.
Live-attenuated viral vaccines have been successfully used to combat infectious disease for decades but due to their empirical derivation, little is known about their mechanisms of attenuation. This lack of understanding makes the development of next generation live attenuated vaccines difficult. Th...
ORGANISM(S): Yellow fever virus 
2020-01-01 | E-MTAB-8504 | biostudies-arrayexpress
UnknownA prognostic model for use before elective surgery to estimate the risk of postoperative pulmonary complications (GSU-Pulmonary Score): a development and validation study in three international cohorts.
Not available
S-EPMC12056793 | biostudies-literature
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