Sentence examples for be a likely pathogenic from inspiring English sources

Furthermore, the bioinformatic prediction packages PolyPhen2, MutationTaster, Sift, Blosum62, Provean and MutPred consistently predicted this to be a likely pathogenic change (Supplementary Material, Table S1).

Thus, intracellular oxidative stress seems to be a likely pathogenic link that bridges overnutrition with NF-κB activation leading to central metabolic dysregulation.

Objective: Endothelial disturbance (whether activation, dysfunction or damage) is a likely pathogenic mechanism in pre-eclampsia and pregnancy-induced hypertension (PIH).

Anomalous accumulation of such aggregates within vessel walls, possibly leading to GOM deposition, is considered a likely pathogenic mechanism.

A variant in MC1R (NM_002386.3:c.425G > A, p.R142H) has also been predicted to be likely pathogenic, was observed in Mother, Son and Daughter, and has been reported to be associated with increased risk of developing melanoma [ 23].

Applied to our cohort, 19 male ID patients (0.85%) were found to carry a (likely) pathogenic X CNV.

The results of this study on a Norwegian population of CMT patients identified one pathogenic PMP22 duplication that was not previously detected by real-time PCR and three potentially pathogenic CNVs, of which the deletion of LAMA2 was considered to be likely pathogenic and the duplication of CNTNAP2 and deletion of SEMA5A were considered to be potentially pathogenic.

Of these, CNVs identified in 5 (5/46, 10.9%) fetuses were considered to be likely pathogenic, and CNVs detected in 3 (3/46.56.5%) fetuses were defined as being of uncertain clinical significance.

Mutation p.C139R was predicted to be likely pathogenic because of a destabilizing effect on the granulin-fold by disrupting one of the cysteine disulfide bridges.

This germ line mutation has previously been reported in two female breast cancer patients [ 43, 44] and was predicted to be likely pathogenic in silico[ 43].

This area of research deserves special focus, as the developmental switch from neural stem cell to precursor cell identity is a likely key event in the pathogenic cascade responsible for the transformation of neural stem cells to tumourigenic cancer stem cells.