Sentence examples for displaying mutations from inspiring English sources

However, disorders displaying mutations in the cohesin network termed cohesinopathies do not show severe defects in sister chromatid cohesion [14], [23], [24], [25].

An important question is whether the same mechanisms can be found in mice or patients displaying mutations on other presynaptic proteins involved in epilepsy and seizures.

The vast majority of validated sSNVs were observed at both time-points with only one leukemia case displaying mutations unique to the second time-point a deletime-point aH1 andeletionV in DDX3X.

9p (CDKN2A) was also more frequently mutated than other loci with 7/16 (44%) HGD targets, 20/39 (51%) LGD targets, and 45/138 (33%) "indefinite for dysplasia" targets displaying mutations.

In order to examine the effects of FGFR4 silencing in a range of genetic backgrounds, we utilised a panel of colon cancer cell lines displaying mutations in KRAS (HCT116, LS174T), BRAF (RKO) and PIK3CA (HKH216, HKH2, LS174T, RKO).

Exciting recent research has revealed about 50 unrelated familial patients with Gordon's syndrome, possessing no mutations in the WNK isoforms, but instead displaying mutations in either CUL3 (Cullin-3) [ 15] or the BTB-domain containing protein KLHL3 (Kelch-like 3) [ 15, 16].

HMCLs displaying TP53 mRNA sequence lacking exons (NAN6, NAN7, NAN8) or displaying mutation impairing exon splicing (L363) or nonsense mutations (NAN1 and ANBL-6) were gathered and called "truncated".

Here, we show at the pathway level that the majority of the insulinomas display mutations, copy number variants and/or dysregulation of epigenetic modifying genes, most prominently in the polycomb and trithorax families.

The fragment view also displays mutations extracted by the text mining process.

Up to 60% of BRCA1 mutation-associated ovarian tumors also display mutations in the p53 tumor suppressor gene [25], [26].

Mucinous lesions displayed mutations most frequently.