Sentence examples for mutations as in from inspiring English sources
Oncology is the frontier of Precision Medicine and typically focus is on identification of gene fusions (e.g. crizotinib, an ALK inhibitor for ALK fusion proteins in lung cancer), mutations (as in the case of vemurafinib, a BRAF inhibitor for melanoma patients with the BRAF V600E mutation) and protein over- expression (e.g. Trastuzumab a HER2-targeted antibody for breast cancer).
Accordingly, a strong stabilization by mutations, as in MCspB, completely inhibited fibril formation.
Transversions were randomly selected from synonymous mutations so that they made up 3% of the synonymous mutations as in the empirical data.
In addition to point mutations as in the cases of familial Alzheimer's or Parkinson's Disease [2], [3], trinucleotide expansions can also cause protein misfolding diseases [4].
To investigate the nature of these interactions we performed a series of EMSA experiments using the same mutations as in the transfection experiments and wt (wild type) sequences (Fig. 5D F).
Our present finding that in quiescent MEFs the well-known clastogenic agent H2O2 induces at least the same amount of genome rearrangement mutations as in mitotically active cells indicates a crucial difference between the two categories of mutagenesis.
The other mutation was the same splicing mutation as in our case, which contained 131 bp derived from intron 1 that were inserted between exons 1 and 2. This mutation was shared and segregated with the patient's son and daughter.9 Abed concluded that it was unclear whether this splicing form was deleterious or normal.
Whereas all chromatophores contain pigments or reflecting structures (except when there has been a mutation, as in albinism), not all pigment-containing cells are chromatophores.
However, the mechanism of Tyr1045 hypophosporylation without mutation as in RBE cells remains unclear.
NRAS mutation analysis of one of them showed an identical NRAS mutation as in the leptomeningeal melanocytosis.
In contrast, folate deficiency can exacerbate the effect of an NTD-causing mutation, as in splotch mice.
