Sentence examples for mutation and complete from inspiring English sources

A deletion in exon 6 at codon 260 results in a frameshift mutation and complete loss of hydrolytic activity.

Immunohistochemistry also showed lack of PTEN expression (suggestive of mutation) and complete absence of p53 staining (indicative of null mutation).

In contrast, there was a strong association between the absence of IDH mutation and complete loss of chromosome 10q, EGFR amplification and P16 deletion (P < 0.0001 in each case).

In the case presented here, however, the tumor carries both a KRAS activating mutation and complete inactivation of PTEN, supporting dual activation of both the MEK/ERK and the PI3K/AKT axes.

We asked whether human breast cancer cells derived from an individual harbouring a BRCA1 germline mutation and complete loss of BRCA1 function (BRCA−/−) would have a specific chemosensitivity profile compared to the sporadic tumour-derived hormone-sensitive MCF-7 and hormone-insensitive MDA-MB231 cell lines.

The subset of patients with EGFR mutations and complete FISH data (n=15) was too small to support strong conclusions in this study.

In the small group of 15 patients with activating EGFR mutations and complete FISH data, the combination of low CEN7/cell (cutoff=4), high PIK3CA gain (cutoff=40%), and high PTEN loss (cutoff=20%) showed marginally significant shortening of OS (P=0.07).

Structure based point mutations and complete removal of the TRAP1 strap (Δstrap) resulted in a sixfold increase in ATPase activity in zebrafish TRAP1 (zTRAP1) (Lavery et al., 2014), evidence that the strap plays a regulatory role.

In this regard, there appears to be a FOXP3 gene dosage effect, in that males with an X-linked FOXP3 mutation and a complete lack of functional FOXP3 succumb to a rapidly fatal lymphoproliferative syndrome.

An ideal iPS cell-based gene therapy for SCD would require both precise correction of disease-causing mutation and a complete switching from fetal-type globin to adult-type globin.

We examined the differences in the sensitivity of the HCC1937 human breast cancer cell line harbouring a BRCA1 mutation and with complete loss of BRCA1 function, compared with hormone-sensitive MCF-7 and hormone-insensitive MDA-MB231 cell lines, to chemotherapeutic agents that are commonly used in the treatment of breast cancer.