we expect a different evolutionary trajectory for the genetic information underlying this phenotype. On the one hand, the integrity of developmental genes should be maintained over time due to selection on those gene functions that are not related to the lost phenotype. On the other ...
7a–c) produced an anemia phenotype that mirrors the global loss of Hba1 through the insertion of a neomycin resistance cassette20 (Supplementary Fig. 7d–f) with significant defects in blood hemoglobin and hematocrit but with no statistically significant change in total RBCs. Fig. 3: Creation ...
As TET2MUT clonal expansion was most pronounced in the myeloid lineage, we further explored the transcriptional basis of this phenotype in individuals with TET2MUT CH. We first compared the density distributions of TET2MUT and TET2WT cells along the differentiation trajectory from HSCs to mature myel...
This pipeline is designed as a discovery analysis, to identify potential new variants,you should not expect every variants from the pipeline to have an effect on the phenotype. Annotating the variants will help you defining which variants to keep or discard. To annotate the variants you can use...
The significant correlation between the genotype and phenotype classification has changed our understanding of the disease. The first interest in this classification was to identify HCA previously classified as telangiectatic FNH [4, 12] and to solve difficulties in diagnosing between HCA and FNH [1...
This motor dysfunction phenotype rapidly progresses from slight ataxic signs (gait and balance abnormalities) to complete paralysis within 2–3 weeks [65]. This pattern of motor deficit is also observed in another transgenic mouse model express- ing hαSA53T under control of the MoPrP ...
Results There was no significant difference between cases and controls in either genotype distributions (cases TT0.33, TC0.48, CC0.19; controls TT0.32, TC0.48, CC0.20) or allele frequencies (cases T/C0.57/0.43; controls T/C0.56/0.44). Furthermore, a genotype–phenotype interaction analysis in ...
Our clear-cut definition of the CAD phenotype likely reduced the chance of spurious results due to the inclusion of controls with substantial, though not yet clinically manifest CAD. Second, previous studies focused on the potential cardiovascular risk conferred by the TT genotype alone, without ...
Copy num- ber variation (CNV) in a given target region was assumed if the ratio of normalised coverage(genotype)/normal- ised coverage(all genotypes) was smaller than 0.5 or higher than 1.5, respectively. Sequencing data for 3 genotypes from a former experiment (Silona, Campino, Magres Paj...
SNP scanning of the DAT locus with AEI ratios as the phenotype, followed by in vitro molecular genetics studies, demonstrated that rs27072 C4T affects mRNA expression and translation. Expression of the minor T allele was dynamically regulated in transfected cell cultures, possibly involving microRNA...