Intriguingly, A375 cells harbouring the B-RAF-V600E mutation displayed higher background migration in the absence of chemokine.
Our experimental data showed that both KMT2D and KDM6A nonsense mutations displayed high levels of readthrough in response to gentamicin treatment, paving the way to further studies aimed at eventually treating some Kabuki patients with readthrough inducers.
Ectopic expression of p53 mutant R282W in H1299 and SaOS2 cells significantly upregulated CYP3A4 mRNA and protein levels, and cancer cell lines bearing mortality-associated p53 mutations display higher CYP3A4 expression and resistance to several CYP3A4-metabolized chemotherapeutic drugs.
Analysis of the drug susceptibility of these isolates confirmed that all strains carrying the katG mutation displayed a high level of resistance to isoniazid (MIC >10 µg/ml) and those isolates carrying only the inhA promoter mutation showed intermediate isoniazid resistance (MIC = 1.25 µg/ml) compared to H37Rv (0.16 µg/ml; Table 2).
While the non-hereditary form of retinoblastoma is usually caused by somatic inactivation of both RB1 alleles, a subtype of retinoblastoma was recently described which lacks mutations in RB1 but displays high level amplification of the oncogene MYCN (Rushlow et al., 2013).
The high expression of some DNA repair genes, some of which also carry potentially damaging NS mutations, suggests that even though HeLa displays high chromosomal instability, specific DNA repair mechanisms may be activated, perhaps irrespective of their effectiveness.
We conclude that the JAK2 V617F /PNA-FISH method displays high specificity and reliability in discriminating cell subpopulations harbouring the JAK2 V617F mutation.
The pseudogene NATP displays high sequence identity to NAT1 and NAT2 (79%) but contains multiple frameshift and premature stop codon mutations leading to loss of function [ 9].
The emergence of drug resistance can defeat the successful treatment of pathogens that display high mutation rates, as exemplified by RNA viruses.
Another highly prevalent phenotype observed in P. aeruginosa isolates from CF patients is the hypermutator phenotype [16] [19], with hypermutator strains displaying high mutation rates, mainly due to alterations in the genes of the DNA mismatch repair system (MRS) [20].
