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TranscriptomicsGenome-wide consequences of compromised NMD and their relavence for variable clinical phenotype of patients with UPF3B mutations [RNA-seq]
Nonsense-mediated mRNA decay (NMD) surveillance pathways are best known to be involved in the degradation of mRNA with premature termination codons (PTCs). More recent studies demonstrate that the role of NMD pathways goes well beyond the degradation of PTC containing mRNA, into the regulation of ce...
ORGANISM(S): Homo sapiens 
2011-11-01 | E-GEOD-27199 | biostudies-arrayexpress
TranscriptomicsMapping of the HUWE1 duplication at Xp11.22 in eight unrelated XLID patients
In a study to elucidate the genetic defects in patients with X-linked intellectual disability (XLID) we performed X chromosome-specific BAC-array-CGH and identified 0.33 to 1.0 Mb nonrecurrent copy number gains at Xp11.22 in affected males of unrelated XLID families. All aberrations segregate with t...
ORGANISM(S): Homo sapiens 
2012-09-03 | E-GEOD-32945 | biostudies-arrayexpress
UnknownCryoEM movies of the IFIT2-IFIT3 heterodimer from Mus musculus
Not available
EMPIAR-13082 | biostudies-other
UnknownReplication of association between ELAVL4 and Parkinson disease: the GenePD study.
Not available
S-EPMC2716559 | biostudies-literature
UnknownHuntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study.
Not available
S-EPMC2655323 | biostudies-literature
UnknownMeta-analysis of Parkinson's disease: identification of a novel locus, RIT2.
Not available
S-EPMC3354734 | biostudies-literature
UnknownGenomewide association study for onset age in Parkinson disease.
Not available
S-EPMC2758866 | biostudies-literature
UnknownGenomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Not available
S-EPMC9939054 | biostudies-literature
UnknownHealth Status Outcomes With Percutaneous Coronary Intervention and Coronary Artery Bypass Grafting in ISCHEMIA.
Not available
S-EPMC12492304 | biostudies-literature
UnknownNeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases.
Not available
S-EPMC4317375 | biostudies-literature
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