Sentence examples for mutations demonstrate a from inspiring English sources

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.

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.

The variability in the response to erlotinib in the treatment of NSCLC is further accentuated by the fact that only approximately 10% of patients without activating EGFR mutations demonstrate a drug response to first-line erlotinib treatment [ 1, 56- 58].

24, 25 These HNF1A mutations demonstrate a high penetrance, with 63% of carriers developing diabetes by 25 years of age, 79% by 35 years of age, and 96% by 55 years of age.

The risk estimates from this study suggest that women carrying the pathogenic variant, ATM c.7271T > G, or truncating mutations demonstrate a significantly increased risk of breast cancer with a penetrance that appears similar to that conferred by germline mutations in BRCA2.

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.

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.