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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
TranscriptomicsTranscription profiling of different types of skeletal muscles from wild type and alpha tropomyosin transgenic slow mice to investigate the molecular mechanisms implicated in the mouse model of nemaline myopathy.
The aim of this study was to investigate the molecular mechanisms implicated in this mouse model of nemaline myopathy, and to further compare the molecular disease response in different skeletal muscles. For this purpose, snap frozen skeletla muscle specimens from wild type and transgenic for alpha ...
ORGANISM(S): Mus musculus 
2007-12-01 | E-GEOD-3384 | biostudies-arrayexpress
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
TranscriptomicsGenome-wide consequences of compromised NMD and their relavence for variable clinical phenotype of patients with UPF3B mutations [CNV]
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-27412 | biostudies-arrayexpress
TranscriptomicsGenome-wide consequences of compromised NMD and their relavence for variable clinical phenotype of patients with UPF3B mutations [mRNA profiling]
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-27125 | biostudies-arrayexpress
UnknownHaplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study.
Not available
S-EPMC2654275 | 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
UnknownReplication of association between ELAVL4 and Parkinson disease: the GenePD study.
Not available
S-EPMC2716559 | biostudies-literature
UnknownGenomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Not available
S-EPMC9939054 | biostudies-literature
UnknownCopy number variation in familial Parkinson disease.
Not available
S-EPMC3149037 | biostudies-literature
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