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TranscriptomicsTranscription profiling of ataxin-null (Atxn-null) vs. wild type mice to investigate spinocerebellar ataxia type 1 (SCA1)
Ataxin 1 (Atxn1) is a protein of unknown function associated with cerebellar neurodegeneration in spinocerebellar ataxia type 1 (SCA1). SCA1 is caused by an expanded polyglutamine within Atxn1 by gain-of-function mechanisms. Lack of Atxn1 in mice triggers motor deficits in the absence of neurodegene...
ORGANISM(S): Mus musculus 
2006-12-01 | E-MEXP-886 | biostudies-arrayexpress
TranscriptomicsFunctional genomic analysis of frataxin deficiency, Illumina data
Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARγ pathway as a therapeutic target in Friedreich's ataxia Friedreich's ataxia (FRDA), the most common inherited ataxia, is characterized by focal neurodegeneration, diabetes mellitus, and l...
ORGANISM(S): Mus musculus 
2010-04-09 | E-GEOD-15848 | biostudies-arrayexpress
TranscriptomicsFunctional genomic analysis of frataxin deficiency, Agilent data
Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARγ pathway as a therapeutic target in Friedreich's ataxia Friedreich's ataxia (FRDA), the most common inherited ataxia, is characterized by focal neurodegeneration, diabetes mellitus, and li...
ORGANISM(S): Mus musculus 
2009-06-02 | E-GEOD-15843 | biostudies-arrayexpress
GenomicsEGAD00000000058
Aggregate results from 22 Carbamazepine-induced hypersensitivity syndrome patients and 2691 UK National Blood Service (NBS) control samples
EGAD00000000058 | EGA
GenomicsEGAD00000000059
Aggregate results from 43 Carbamazepine-induced hypersensitivity syndrome patients and 1296 1958 British Birth Cohort control samples
EGAD00000000059 | EGA
GenomicsHLA-A*3101 and Carbamazepine-Induced Hypersensitivity Reactions in Europeans
Based on the prior knowledge of involvement of the human leukocyte antigen locus in Han Chinese patients with carbamazepine-induced Stevens-Johnson syndrome, we imputed the HLA types for each case and control subject from the array of SNPs in the Human610-Quad GWAS platform (NCBI Build 36.1). We the...
EGAS00000000036 | EGA
GenomicsCarbamazepine-induced hypersensitivity reactions in Europeans
An antiepileptic drug carbamazepine is well tolerated by the majority of patients, but can cause severe and potentialy fatal hypersensitivity reactions in a small number of individuals. The aim of this study was to identify genetic predictors of hypersensitivity reactions to carbamazepine. We undert...
EGAS00000000037 | EGA
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