Sentence examples for mutations and aberrant from inspiring English sources
The absence of NR2E3 repressor function on cone-specific promoters very likely causes ESCS, and at least three different molecular mechanisms may be involved: 1) absence of NR2E3 protein because of nonsense mutations and aberrant splicing; 2) absence of DNA binding because of mutations in the DBD; 3) impaired corepressor binding because of mutations in the LBD.
In particular, mutations and aberrant expression of kinases are frequently associated with tumourigenesis [ 2, 3].
The question then becomes: why do tumors in these midline regions harbor K27M mutations and aberrant H3K27 methylation so frequently?
Mutations and aberrant expression of filamin-A have been reported in human genetic diseases and several types of cancer.
Previous work by our laboratory has identified a correlation between ITD c-KIT mutations and aberrant KIT localization in canine cutaneous MCTs.
Availability of new tools capable of sensitive detection of gene mutations and aberrant expression of genes and proteins coupled with gene-specific knockdown and silencing protocols have provided insight into the previously unexplored ubiquitin regulatory process within these tumors.
This study also identifies RB1CC1 as a novel target of frequent mutation and aberrant upregulation in MSI-H colorectal tumors.
This screening identified frequent mutation and aberrant mRNA upregulation of RB1CC1 in MSI-H colorectal tumors, which deserves further investigation of its potential involvement in colorectal tumorigenesis.
Indeed, genomic amplification, chromosomal deletion, point mutation, and aberrant promoter methylation are the main strategies used by cancer cells to gain or lose miRNA function.
Whilst the major mechanisms for gene inactivation in MSS cancers are mutation and deletion, MSI-H tumours progress predominantly due to repeat-tract mutation and aberrant promoter hypermethylation of important target tumour suppressor genes [ 16].
Mutations and epigenetic aberrant signaling of growth factors pathways contribute to carcinogenesis.
