Sentence examples for mutational screening in from inspiring English sources
A recent mutational screening in 12 types of cancer has revealed mutations of p53 in 69.8% of HNSCC.
Further mutational screening in 33 bi CEBPA AML patients showed mutations in: GATA2 (39.4%), FLT3-ITD (18.2%), DNMT3A (9.1%), IKZF1 (6.1%).
This system could provide rapid, economical and accurate mutational screening in the TP53 gene.
In NF- κB/FCAS2, although clinically similar to FCAS1, the mutational screening in NLRP3 and other known periodic fever genes is negative [ 37].
Independent studies will be needed to investigate if TERT promoter mutational screening in histologically equivocal ACCs would aid in the definite diagnosis.
Only recently did an extensive study of gene mutational screening in patients affected by non-BRCA1/BRCA2 familial breast cancer clearly categorize ATM as a breast cancer gene [ 202].
The de novo DNA methyltransferases DNMT3A and DNMT3L have been shown to be essential for normal imprinted DNA methylation [12], [13] and make strong candidates for a mutational screen in SRS patients with hypomethylation of ICR1 [25].
The study reported very high selection of mitochondrial genes in the yeast deletion screen, whose orthologs would serve as candidates for mutational screens in Mendelian and complex mitochondrial disorders in humans [ 19].
These results suggest that CHEK2 germ line mutations may contribute to breast cancer susceptibility in the Chinese population and point to the need of more whole mutational screens in other Asian populations.
In summary, we designed an integral analysis pipeline for mutational screening via SOAP v1.0 that resulted in a low false positive rate with a low probability of discarding real positive variants, with which we identified 8 candidate variants that are currently under functional characterization.
F7 mutational screening [13] in FVII-deficient patients referred to Ramathibodi Hospital in Bangkok identified two homozygotes (PFVII-T3, PFVII-T4) for the IVS6 + 1G > T mutation (Fig. 1A).
