Sentence examples for mutation is pathological from inspiring English sources

PMut predicted that this mutation is pathological.

With the cosegregation of unaffected individuals and absence of this nucleotide change in 150 normal controls, we strongly assume that this mutation is pathological and exclude the possibility of its being a polymorphic change.

These findings confirm that the identified B4GAT1 mutations are pathological and have a direct negative impact on B4GAT1 activity regardless of their subcellular localization.

To confirm that the potential mutation (Arg153Trp) is pathological, we analysed the biochemical effect of the mutation on the stability of HA-tagged human NANOS3 (hNANOS3) protein in transiently transfected HEK293 cells using a cycloheximide (CHX -chase analysis.

13 For example, the C9orf72 mutation is a pathological expansion of a repeated DNA sequence.

The levels of different RAS mutations that are "pathological" have not yet been rigorously established for CRC patients [8].

Six of the mutational substitutions constructed are pathological mutations found in compound heterozygous FRDA patients (D122Y, G130V, N146K, I154F, W155R and W173G) [25].

Here, we have analysed a novel mouse model that has a point mutation in the endogenous mouse Sod1 gene; this mutation is identical to a pathological change in human familial ALS (fALS) which results in a D83G change in SOD1 protein.

Although genomic studies in the field of centrosome have been extensively carried out, with the lack of structural conformation, the proteomic analysis of pathological genetic mutation is still a challenging task.

To limit the search space, the genome must be distilled to the active functional regions where mutations are likely to be pathological.

The missense mutations resulting in amino acid variants A266P and C271Y are predicted to be pathological (10, 14).