specific places in the genome. For example, most individuals carry the C nucleotide at a specific base position in the genome, but in a minority of individuals this is replaced by an A. This means there is a SNP at this specific positi...
The experimental approach presented produces strong evidence of the presence of a deleterious mutation, because the contribution by both chromosomes to each RNA species analyzed was tracked using a coding region polymorphism as a marker. Furthermore, a single nucleotide polymorphism (SNP) haplotype ...
Inhibition of DNA-PKcs activity via its inhibitor NU7026, a dominant-negative kinase-dead mutation, RNA interference (RNAi) or gene depletion led to the... T Ying,C Ji,Y Bo,... - 《Molecular Cancer》 被引量: 23发表: 2013年 MUT-14 and SMUT-1 DEAD Box RNA Helicases Have Overlapping...
snpXploreris characterized by anExplorationand anAnnotationsection. Exploration: This section allows you to browse GWAS association signals across a set of pre-defined GWAS summary statistics. The user can select multiple GWAS traits and these will be superimpose on top of each other. Additional info...
Glycine max non-nodulation locus rj1: a recombinogenic region encompassing a SNP in a lysine motif receptor-like kinase (GmNFR1α). The rj1 mutation of soybean is a simple recessive allele in a single line that arose as a spontaneous mutation in a population; it exhibits non-nodulation.....
Using a genome-wide microsatellite marker scan for linkage in pedigrees, we mapped the EIC locus to canine chromosome 9. We then used SNP association and haplotype analysis to fine map the locus, and identified a mutation in the dynamin 1 gene (DNM1) that causes an R256L substitution in ...
Although the c.2836G>A polymorphism partially activated the promoter activity, the induced activity was lower than those of the AGS-derived mutants. In addition, the dominantly inherited SLE mouse model in the ENU-treated mouse colony is reported to have the Ifih1 mutation, c.2461G>A (p....
As compared to healthy controls, the whole group of overweight/obese BED and non-BED patients had a significantly higher frequency of the CA genotype and the A allele of the FAAH gene cDNA 385C to A SNP. Moreover, the SNP resulted significantly correlated to the presence of overweight/...
a direct estimate of the nuclear mutation rate in the epaulette shark (Hemiscyllium ocellatum). We generate a high-quality reference genome, and resequence the whole genomes of parents and nine offspring to detect de novo mutations. Using stringent criteria, we estimate a mutation rate of 7×...
We demonstrated that the PSMD9 A/T/G haplotype is linked to the MODY3 established mutations in the Italy-1 and Italy-3 families. By non-parametric and parametric linkage analyses, and LD modeling, in the Italy-1 and Italy-3 families we hereby show that the MODY3 mutation and the PSMD...