Sentence examples for mutation and normal from inspiring English sources

However, after adjustment by CAPRA-S26 and age (multivariate analysis) no difference was found for time to PSA recurrence (PSA ≥0.2 ng/ml) after radiation therapy between patients with identified PTEN mutation and normal PTEN status (Fig. 6E).

51– 53 In cells with the BRAF-V600 mutation and normal upstream RAS levels, BRAF functions as a monomer; thus, when it is inhibited by a BRAF-V600 inhibitor, transactivation of heterodimers does not occur, and ERK signaling is suppressed.

As established by different studies performed on male patients, other mosaic combinations can be observed: MoMN (Mosaicism for full Mutation and Normal alleles) or MoMPN genotype (Mosaicism for full Mutation, Premutation, and Normal alleles).

Domesticus Group B is defined as having Sry alleles with 12 CAG repeats in glutamine repeat cluster 3 and a 10 bp deletion in the 5′ UTR that allows for normal development in B6 mice heterozygous for the TOrleans mutation and normal Sry expression levels in the fetal gonad.

Furthermore, no major differences were found in the nature of base pair substitutions between ATLD patients (753 mutations) and normal controls (750 mutations), except that there was a small, albeit significant, increase of A to C transversions in the ATLD patients (8.8 vs. 5.3% in controls, χ2 test, p<0.01).

For the cells with mutations and normal expression, as in HCT116, the single truncated hMLH1 protein band (due to the nonsense mutation at codon 252) was first explained by the loss of the wild type allele (Papadopoulos et al, 1994).

The similarity between HPGL tumours from patients with germline SDHD mutations and normal carotid body tissue exposed to chronic hypoxia led Baysal et al (2000) to suggest that SDHD was a critical gene involved in oxygen sensing.

Immortalized fibroblasts from a patient homozygous for a splice site mutation (c.1726+1G>A) [11] and normal immortalized fibroblasts were used as controls.

For example, coupling between the SCN and other oscillators should be contrasted between the mutation carriers and normal controls, especially in the context of dynamic network properties.

While group Ia consisted of mostly follicular samples and one luteal sample with the highest PR-A staining, group Ib consisted of a mix of luteal and follicular phase samples from both mutation carriers and normal controls.

The reduction in AR is such that there is essentially no overlap in the response distributions in TP53 mutation carriers and normal controls (12 vs 46% mean response, P<0.001 in the two groups in Camplejohn et al (2000)).