Sort   by:  
 Page size 
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
TranscriptomicsA non-coding mutation implicates HCFC1 in non-syndromic intellectual disability
Human disease mutation discovery has so far been biased towards protein coding regions. Having excluded all annotated coding regions, we performed targeted massively parallel re-sequencing of the non-repetitive genomic linkage interval of the MRX3 family at Xq28. We identified a regulatory mutation ...
ORGANISM(S): Homo sapiens 
2012-09-01 | E-GEOD-39326 | biostudies-arrayexpress
Sort   by:  
 Page size