But what happens when a mutation occurs over multiple genes? Deletions involve the loss of DNA sequences. Phenotypic effects of deletions depend on the size and location of deleted sequences on ...

Often, the encoded protein is non-functional. A visual depiction of a frameshift mutation. In the case of a duplication mutation, a piece of DNA is (abnormally) copied. This might happen once or ...

When cancer spreads from a primary tumor to new sites throughout the body, it undergoes changes that increase its genetic ...

Mutations can be caused by high-energy sources ... bases (deletion), the making of two copies for a single base (point duplication) or the addition of a new base or even several bases (insertion).

Background: The mutation is a tandem duplication (a series of adjacent repeats of a DNA sequence) of exon 13 of the gene UBTF, which normally promotes expression of the cell's protein translation ...

Here, a single mutation has resulted in a new protein ... each can evolve in separate directions. The duplication of genes or even entire genomes is turning out to be ubiquitous.

The mutation is a tandem duplication (a series of adjacent repeats of a DNA sequence) of exon 13 of the gene UBTF, which normally promotes expression of the cell's protein translation machinery.

This is especially true of the internal tandem duplication (ITD) FLT3 mutation (FLT3-ITD mutation). The FLT3-ITD mutation involves multiple copies of the mutated FLT3 gene existing in a row.

This APP duplication was reported in a study of 24 French families carrying APP duplications (Grangeon et al., 2023). Duplications were detected by analyzing the APP locus on chromosome 21 using ...

There was no PET imaing for the fourth individual. Individuals with C9ORF72 repeat expansions, APP duplication, or mutations in APP, PSEN1, or PSEN2 were not included in this study. The 17q21.31 ...

Genetic mutations can be of many types, including missense, nonsense, insertion, deletion, duplication, frameshift, and repeat expansion mutations. D614G mutation is a missense mutation wherein an ...

Variant and copy number calls are made using a unique bioinformatics pipeline detecting all types of mutations including single nucleotide substitutions, indels, and frameshifts caused by deletion/ ...