Sentence examples for mutations demonstrating a from inspiring English sources
We have performed clinical, biochemical, immunocytochemical and molecular genetic studies of 17 patients with MDS associated with MPV17 mutations, demonstrating a loose relationship between the clinical phenotype and mutational genotype, with patients with the most severe mtDNA depletion in liver tending to present and die at an earlier age.
Finally, we identify several cases of tRNA functional shifts by anticodon point mutations, demonstrating a greater than anticipated role for functional shifts in the evolution of eukaryotic tRNA gene organization.
The majority of tumors with amino acid changing mutations demonstrated a mutation in the ND complex.
Five of 10 patients with KIT mutations demonstrated a partial response to imatinib treatment, three of whom also had amplified KIT.
HT imaging of patient-derived AIS mutations demonstrated a proof-of-principle personalized medicine approach to rapidly identify ligands capable of restoring multiple AR functions.
While the single or double HLA-G mutations (i.e. M76V+Q79R, M76V, Q79R, N151R, T80N, T80K, Fig. 2) were not stained by KIR2DL1-Ig or KIR2DL2-Ig, the triple HLA-G mutations demonstrated a different pattern of binding.
Thus, both mutations demonstrated a functional role in RNA synthesis.
Despite these suppositions, there is no doubt that the few cases of such familial mutations demonstrate a clear example of a relationship between the UPS and PD.
Patients with EGFR mutations demonstrated a superior PFS after treatment with molecular targeted therapy compared with those treated with traditional platinum-doublet chemotherapy [ 40].
2003-2004 SNCA triplication and duplication mutations demonstrate a dose-dependent relationship between expression and pathogenicity [ 58, 143- 146] that is now supported by several mouse models.
This inverse relationship is consistent with the fact that MSI-positive mutations demonstrate a significantly lower level of copy number alterations affecting cancer genes.
