Sentence examples for mutation we demonstrate from inspiring English sources

Using myeloproliferative neoplasm patient-derived iPSCs that carry an acquired JAK2-V617F point mutation and α1-antitrypsin (AAT) deficiency patient-derived iPSCs that carry an inherited Z-AAT point mutation, we demonstrate that Cas9 can specifically target either the mutant or the wild-type allele with little disruption at the other allele differing by a single nucleotide.

In our stimulation of individuals with the homozygote 3020insC NOD2 mutation we demonstrate the involvement of the NOD2 pathway during Yersinia spp recognition (Figure 4).

In a disease with a previously identified genetic mutation, we demonstrate that one can identify the disease locus through the comparison of the predicted allelic frequencies in case and control pools.

With site-directed gene mutation, we demonstrated that miR-381 could directly bind with the sequences CACUUGUAU in the 3′-UTR so as to inhibit C/EBPα (CCAAT/enhancer-binding protein α) expression.

Through point mutations, we demonstrate that complex formation is essential for centriole duplication in vivo.

In addition to K-Ras mutations, we demonstrate for the first time that the loss of PTEN protein expression is associated with nonresponsiveness to cetuximab.

The pattern of charged residues suggests that putative salt bridges should be broken by both the QDA and QQN mutations; we demonstrate that the 5-HT3A QDA) and 5-HT3A(QQN) receptors have similar single-channel conductances of approximately 30 pS, much higher than that of the wild-type receptor.

By combining the reporter gene ura4 + integrated at different positions in the left pericentric region of centromere 1 with leo1 mutations, we demonstrated that the heterochromatin defects observed in the RNAi-deficient mutants were rescued by the leo1::Hermes allele as heterochromatin was restored (Fig 5C).

The AXIN1 gene G2063A variation was previously described as a gene mutation but we demonstrate that this is a polymorphism.

In a case study with breast cancer RNA-sequencing expression values and somatic mutation data, we demonstrate the benefits of joint network inference from multiple related datasets.

Using this novel framework, which removes the differential effect of demographic processes on markers with different mutation rates, we demonstrate that tetra-nucleotides are inconsistent with di- and tri-nucleotides, a likely sign of ascertainment bias.