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TranscriptomicsHigh-resolution copy number analysis of medulloblastoma
We used high-resolution SNP genotyping to identify regions of genomic gain and loss in the genome of 212 medulloblastomas, a malignant pediatric brain tumor. Focal amplifications of fifteen known oncogenes and focal deletions of twenty known tumor suppressor genes (TSG) were revealed, most not prev...
ORGANISM(S): Homo sapiens 
2010-04-06 | E-GEOD-14437 | 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
UnknownTIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics.
Not available
S-EPMC5576574 | biostudies-literature
GenomicsPCGP MB WGS Full - samples
DATA FILES FOR PCGP MB WGS - Supersedes (EGAD00001000269)
EGAD00001001864 | EGA
GenomicsPCGP MB - samples
OLD DATA FILES FOR SJMB - Superseded by EGAD00001001864
EGAD00001000269 | EGA
GenomicsGenetic landscape of pediatric Medulloblastoma
Medulloblastoma is a heterogenous disease made up of at least four distinct subtypes of disease which appear to exploit and disrupt naturally occurring developmental pathways of cellular growth and hindbrain development. To better understand the driver mutations of this disease, we performed whole g...
EGAS00001000347 | EGA
UnknownLethal COVID-19 associates with RAAS-induced inflammation for multiple organ damage including mediastinal lymph nodes.
Not available
S-EPMC11626201 | biostudies-literature
UnknownEffect of Four Hemoglobin Transfusion Threshold Strategies in Patients With Acute Myocardial Infarction and Anemia : A Target Trial Emulation Using MINT Trial Data.
Not available
S-EPMC12701713 | biostudies-literature
GenomicsQCMG_20130826 - samples
Analysis .bam files from HiSeq sequencing of Australian ICGC PDAC study samples, submitted 20130826
EGAD00001000660 | EGA
GenomicsQCMG20130201_pancreatic - samples
Sequencing data for Australian Pancreatic Cancer study submitted 20130102
EGAD00001000323 | EGA
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