2003). Scientists estimate that 15–60 percent of human genetic diseases involve splicing mutations, either through direct mutation of the splice-site signals or through disruption of other ...

Synonymous mutations can remove binding sites for splicing proteins or create new ones, or change the rate of splicing overall. For instance, one recent study reported a synonymous mutation in the ...

1129–5923C>G splice mutation was significantly enriched in patients with severe 5-FU-related toxicity (9.1%; 66 patients) compared with patients without toxicity (2.2%; 137 patients), confirming ...

"We know that splicing is dependent on enzymes, and any mutation that disrupts the concentration of enzymes has dramatic effects," says Prashant Bhat, a postdoctoral scholar research associate in ...

In family 1, we found the delC5272 mutation in the mother and the splicing defect in the father (Table 1); this latter defect was absent from the unaffected sister. In the family of patient 3 ...

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Stay up to date on the latest science with Brush Up Summaries. Despite its significance, alternative splicing’s global impact on cellular homeostasis and intricate molecular mechanisms remains ...

Included in the NGS assay are the regions covering >65 different deep intronic splice mutations (which reside beyond the +/-50 intronic base pairs that flank all exons). Validation of the full panel ...

Included in the NGS assay are the regions covering >65 different deep intronic splice mutations (which reside beyond the +/-50 intronic base pairs that flank all exons). Validation of the full panel ...