Sentence examples for mutation demonstrate that from inspiring English sources

In summary, these studies involving Nuf mice with an activating CaSR mutation demonstrate that NPS 2143-mediated allosterinhibitioniof of the CaSR is able to rectify the molecular defect underlying ADH1 and also improve the reduced plasma calcium and PTH levels that are associated with this disorder.

Only one case presented a BRAF mutation, demonstrating that is a rare alteration in EAL.

Our results also show an association between tumour site and D-Loop mutation, demonstrating that hypopharyngeal tumours were significantly more frequent in the group of mutated tumours compared to that of nonmutated tumours.

Functional characterization of the F139WfsX24 mutation demonstrated that it causes a complete loss of TRESK function and that the mutant subunit suppresses the wild-type channel function through a dominant-negative effect.

However the ATRT also bore somatic loss of 22q and an inactivating SMARCB1 mutation, demonstrating that germ-line inactivation of CDKN1C was not sufficient to cause ATRT.

In vivo functional characterization of the endogenous heterozygous nonsense mutation demonstrated that the molecular mechanism underlying glucocorticoid insensitivity in this kindred involves GR haploinsufficiency and nonsense-mediated mRNA Decay (NMD) [17].

Serial deletion mutation demonstrated that OsSec18 binds to the Os60sP0p in a head/tail to head manner.

DCs sorted from the ITD+ AML samples contained the ITD mutation, demonstrating that they originated from leukemic blasts (Fig.  4).

One "conventional" knock-in model of NPM1 mutation demonstrated that NPM1 mutation can result in myeloproliferative disease but is insufficient for leukemogenesis [ 13].

Additional breeding with the mdx mutation demonstrated that the mdx mutation presents more severely when bred onto the D2 background [ 15].

Cycloheximide treatment of LCLs carrying this mutation demonstrated that PALB2 r.2997_3113doesdoes not undergo extensive NMD whereas PALB2 r.3083_3113del appears to be susceptible to NMD.