Sentence examples for mutations affecting pre-mRNA from inspiring English sources

Mutations affecting pre-mRNA splicing account for a significant proportion of human genetic disorders (1).

Our study demonstrates that a genomic deletion affecting DPYD and a deep intronic mutation affecting pre-mRNA splicing can cause severe 5FU-associated toxicity.

Mutations that affect pre-mRNA splicing account for at least 15% of disease-causing mutations with up to 50% of all mutations described in some genes.

Analyses have also shown that 15% of point mutations that cause genetic disease affect pre-mRNA splicing [ 10], providing a link between AS events and inherited genetic diseases.

Recent advances in our understanding of pre-mRNA splicing has led to an increased awareness that mutations outside the splice sites may affect pre-mRNA splicing and thereby causing disease (Pagani and Baralle 2004; Wang and Cooper 2007).

All three mutations in the human V2R proposed to affect pre-mRNA splicing [31] are at splice site positions that are 100% conserved during mammalian evolution.

Although it was previously demonstrated that mutations in both canonical Myb repeats R1 and R2 affect pre-mRNA splicing, this is the first evidence that Cdc5-D3 is also required for Cdc5 function.

On the other hand, genomic mutations associated with oncogenesis may also interfere with the recognition and selection of splice sites and affect pre-mRNA splicing pattern.

We next determined whether Tip110 expression would globally affect pre-mRNA splicing.

It has been shown that incorporation of 5-FU into RNA affects pre-mRNA splicing process [ 42].

In fact, it has been estimated that more than 60% of sequence variations may affect pre-mRNA processing [ 12].