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Spinobulbar muscular atrophy (SBMA) is a neurodegenerative disease caused by expansion of a polyglutamine tract in the androgen receptor (AR). This mutation confers toxic function to AR through unknown mechanisms. Mutant AR toxicity requires binding of its hormone ligand, suggesting that pathogenesi...
ORGANISM(S): Drosophila melanogaster 
Genomewide methylation analysis in Silver Russell syndrome patients compared to healthy controls Bisulphite converted DNA from the 24 samples were hybridised to the Illumina Infinium 450k Human Methylation Beadchip
ORGANISM(S): Homo sapiens 

Garrod’s concept of “chemical individuality” has contributed to comprehension of the molecular origins of human diseases. Untargeted high-throughput metabolomic technologies provide an in-depth snapshot of human metabolism at scale. We studied the genetic architecture of the human plasma metabolo...

2022-09-09 | MTBLS834 | MetaboLights
RNA-Seq was applied to oral squamous cell carcinomas and matched normal oral tissue to measure gene expression patterns and identify examples of allelic imbalance. Oral squamous cell carcinomas (OSCC) and matched normal tissue from 3 patients.
ORGANISM(S): Homo sapiens 
FLAG-tagged 5MP (h5MP1/BZW2 from human and 5MP/Kra from fly) was ectopically expressed in relevant host cells (HEK293T for human and S2 for fly) by transient transfection, and one-step affinity-purified by anti-FLAG affinity resin.The one-step affinity purification products were resolved by SDS-PAGE...
ORGANISM(S): Drosophila Melanogaster (fruit Fly) 

Original description of the study: From ELLIPSE (linked to the PRACTICAL consortium), we contributed ~78,000 SNPs to the OncoArray. A large fraction of the content was derived from the GWAS meta-analyses in European ancestry populations (overall and aggressive disease; ~27K SNPs). We also ...

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