Sentence examples for consequence of these mutations from inspiring English sources

Since almost all EZH2 gain-of-function mutations are heterozygous, the overall consequence of these mutations is a cooperative and thereby efficient silencing of genes associated with the repressive H3K27 mark.

These researchers report that a reduction in the PMF, as a consequence of these mutations, increases aminoglycoside resistance by decreasing the uptake of these antibiotics.

As a consequence of these mutations, the intrinsic GTPase activity of this alpha subunit is blocked and the protein remains in its active state.

The consequence of these mutations is the defective maturation of Lamin A, which results in the accumulation of progerin or prelamin A, mutant and immature forms of Lamin A protein respectively.

We demonstrated that the degradation of functional ZIP13 proteins by the VCP-linked ubiquitin proteasome pathway is the major pathogenic consequence of these mutations and that the resultant disturbance of intracellular Zn homeostasis can cause SCD-EDS (Fig  7).

Using in silico modeling techniques24,25, we derived structural models of the two mutated PFN1 proteins and predicted the consequences of these mutations (G118V and T109M) on the structure and function of PFN1 in complex with actin or PLP and in its isolated form.

CCS identified similar dynamic consequences of these mutations in the autophagy pathway.

The energetic consequences of these mutations offer molecular targets and opportunities for new drug development and gene correction therapies.

Few cases have been approached as for the functional consequences of these mutations.

We identified three patient-derived mutations in the FERM domain of Jak3 and investigated the functional consequences of these mutations.

Additional experiments will be necessary to help identify functional consequences of these mutations and in what specific contexts these two KATs function as tumor suppressors.