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TranscriptomicsDistinct roles for Toll and autophagy pathways in double-stranded RNA toxicity in a Drosophila model of expanded repeat neurodegenerative diseases
Dominantly inherited expanded repeat neurodegenerative diseases are typically caused by the expansion of existing variable copy number tandem repeat sequences in otherwise unrelated genes. Repeats located in translated regions encode polyglutamine that is thought to be the toxic agent, however in se...
ORGANISM(S): Drosophila melanogaster 
2013-04-05 | E-GEOD-42910 | biostudies-arrayexpress
TranscriptomicsPerturbation of the Akt/Gsk3-beta signaling pathway is common to Drosophila expressing expanded untranslated CAG, CUG and AUUCU repeat RNAs
Recent evidence supports a role for RNA as a common pathogenic agent in both the “polyglutamine” and “untranslated” dominant expanded repeat disorders. One feature of all repeat sequences currently associated with disease is their predicted ability to form a hairpin secondary structure at the RNA...
ORGANISM(S): Drosophila melanogaster 
2011-04-28 | E-GEOD-27178 | biostudies-arrayexpress
GenomicsUQ Data Access Commitee
Data Access Committee EGAC00001002686
EGAC00001002686 | EGA
GenomicsAdult AML WES data access commitee
Data Access Committee EGAC00001002634
EGAC00001002634 | EGA
Genomicsb1db14cd-994c-4440-908e-9e7aab02d88f - samples
This dataset contains one vcf file with variants from whole exome sequencing of 24 paediatric AML samples at diagnosis.
EGAD00001008783 | EGA
GenomicsGermline variant analysis in childhood AML
Analysis of rare germline variants in childhood AML in a large panel of cancer predisposition genes (n=216) compiled from literature review, and including genes involved in familial hematological malignancies (HM) and bone marrow failure (BMF) syndromes. The prevalence of extremely rare variants in ...
EGAS00001006276 | EGA
Genomics8179f62b-bd5e-4b0d-82eb-6e6b552d1f50 - samples
Dataset comprises one vcf file containing variants from a list of genes (DNA repair and metabolism associated genes) subset from WES of an adult AML cohort. The cohort contains 145 patient samples. WES was performed using Illumina platform.
EGAD00001008700 | EGA
GenomicsVariants from a subset of genes from WES of adult AML patient samples
The aim if this study was to identify variants in a specific list of genes in samples from adult AML patients. The gene list includes DNA repair and mitochondrial respiratory chain genes.
EGAS00001006185 | EGA
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