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Mutations in tRNAs can lead to mis-incorporation of an amino acid into a growing polypeptide chain that differs from what is specified by the mRNA in a process known as mistranslation. As mistranslating tRNAs modify how the genetic message is decoded, they have potential as therapeutic tools to trea...
ORGANISM(S): Saccharomyces cerevisiae (Baker's yeast) 
2025-11-18 | PXD068388 | Pride
Mutations in tRNAs can lead to mis-incorporation of an amino acid into a growing polypeptide chain that differs from what is specified by the mRNA in a process known as mistranslation. As mistranslating tRNAs modify how the genetic message is decoded, they have potential as therapeutic tools to trea...
ORGANISM(S): Saccharomyces cerevisiae (Baker's yeast) 
2025-11-18 | PXD068392 | Pride
Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 gene in both humans and the orthologous PCK rat model. Although ARPKD results solely from PKHD1 mutations, the disease onset and severity are highly variable, indicating that other unknown genetic risk factor(s...
ORGANISM(S): Rattus norvegicus 
To identify the direct targets of the Paf1/RNA polymerase II complex we compared expression profiles of isogenic wild type and paf1 and ctr9 mutant strains. We also created a Tet-regulated form of Paf1 and monitored expression patterns after shut off of Paf1. Samples were isolated at one hour interv...
ORGANISM(S): Saccharomyces cerevisiae 
Phosphorylated residues of the budding yeast Scc2 protein were identified using phosphopeptide enrichment and mass spectrometry.
ORGANISM(S): Saccharomyces cerevisiae (Baker's yeast) 
2015-09-10 | PXD001830 | Pride
Characterization of the selectivity of SMN splicing modifiers in SMA type I fibroblasts by RNASeq In total 12 samples were analyzed, divided into four distinct groups (treated with SMN-C3 @ 500 nM; controls for SMN-C3; treated with SMN-C1 @ 100 nM; controls for SMN-C1) containing 3 replicates each.
ORGANISM(S): Homo sapiens 

We conducted a new independent GWAS of adult glioma using 1,856 cases and 4,955 controls from 14 cohort studies belonging to the Cohort Consortium, 3 case-control studies, and 1 population-based case only study. Cases were newly diagnosed glioma [ICDO-3 codes 9380-9480 or equivalent], and control...

UK10K_RARE_NEUROMUSCULAR REL-2012-11-27
UK10K_RARE_NEUROMUSCULAR REL-2012-01-13
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