Sentence examples for mutation showed a from inspiring English sources

Measurement of the AGA enzyme activities in the patient fibroblasts with either the T122K or AGU-Fin mutation showed a significantly reduced enzyme activity, consistent with AGU (Fig. 1B). Figure 1: Characterization of the novel T122K aspartylglucosaminuria mutation.

All 13 cases of colorectal carcinoma with a KRAS mutation showed a gross polypoid configuration, compared to no KRAS mutation in the colorectal carcinomas with ulcerative configuration.

Setbp1 (SET binding protein) mutation showed a decrease in left ventricular mass, shortening fraction and heart weight, an increase in wall thickness and disturbances in electrical activity of the heart; aiming this line as a model for a human disease (Schinzel-Giedion Midface Retraction Syndrome).

Fibroblast cells derived from DOA patients with missense mutation showed a significant impairment of oxidative phosphorylation (OXPHOS), mostly mediated by complex I [27].

Only the c.2746delCA mutation showed a perfect co-segregation with HJEB and allows detection of all affected individuals, unaffected wildtype individuals and heterozygous carriers of HJEB in BHM sheep (Table 2).

Following a 24 hours treatment with low aphidicolin concentration, under conditions that do not arrest DNA replication, cells carrying a Cernunnos/XLF mutation showed a significantly higher level of gaps and constrictions (∼3 fold, Fig. 5A,C), compared with their complemented counterparts (p<0.001) (Fig. 5B,C).

We previously reported that the effects of reduced TCF-4 on Paneth cell α-defensins in ileal CD patients were independent of the effects of the SNP13 NOD2 variant, since patients with this NOD2 mutation showed a much more marked decrease of HD-5 and -6 expression [9].

Patients with a T790M mutation showed a more favorable prognosis.

However, in several stratifications, KRAS mutation showed a trend towards significance (P ≤ 0.05).

The first study based on overexpression of N-terminal half truncated Tau bearing ΔK280 mutation showed an increase in Tau aggregation [8].

Three more unrelated cases with an APP A713T mutation showed an onset age between 73 and 82 years [ 8].