Sentence examples for most pathogenic mutations from inspiring English sources

Overall, most pathogenic mutations (11/15) identified were located in the TSC2 gene with exon 41 being the most frequent.

Despite initial considerations, most pathogenic mutations rarely alter the native structure of PrPC, but perturb its stability, regulate its metabolism, modulate the oligomerization pathways and determine the features of the PrPSc assemblies [2],[18] [27][18]–[27].

Most pathogenic mutations were ranked on top in our blind bioinformatic pipeline.

Most pathogenic mutations only affect a proportion of the mitochondrial genomes and this is called heteroplasmy.

Most pathogenic mutations in BSCL2 represent substantial disruptions including significant deletions and frameshifts.

However, previous studies have reported that most pathogenic mutations are heteroplasmic, whereas homoplasmic mutations are often benign polymorphisms [24].

Most pathogenic mtDNA mutations are heteroplasmic, with varying amounts of mutated mtDNA present within each cell.

Most pathogenic ATM mutations described so far (now in excess of 300) result in truncating mutations that produce little or no detectable ATM protein, but pathogenic missense mutations have also been described.

Most pathogenic missense mutations in THAP1 occur in the DBD and have either been demonstrated, or are hypothesized, to alter DNA binding [ 3, 14- 17].

The expanded GAA repeat decreases expression of the mitochondrial protein frataxin by disrupting mRNA transcription. 1 Most pathogenic point mutations disrupt RNA splicing, translation initiation, or protein folding of frataxin and result in minimal functional protein.

In this investigation we implemented multiple computational methods to identify the most likely pathogenic mutations in TYRP1 gene.