Sentence examples for mutations on disease from inspiring English sources

The impact of such mutations on disease causation is being recognized and deserves intensive investigation [77].

This issue might be due to the different impact of the NLRP3 mutations on disease severity.

To this end, the particular genes can be humanized or modified in mice and the effect of the specific mutations on disease development investigated.

The effect of prostate-specific expression of the Tp53 R270H mutation on disease progression was characterized over a 16-month period.

To study whether OCP3 plays a role in the modulation of SA-dependent defenses, we examined the effect of the ocp3-1 mutation on disease susceptibility in the context of Arabidopsis genotypes that are impaired in their ability to produce, accumulate or perceive SA in response to Pst DC3000 infection.

Monocytes (CD14+ fraction) and primary skin fibroblasts from CHM patients offer research material to indirectly evaluate the effect of different mutations on the disease phenotype, as loss of function mutations in the CHM gene are present in every tissue of affected individuals.

The impact of non-coding mutations on human disease has been clearly illustrated by the identification of five recessive mutations in the regulatory region of the INS gene that result in permanent neonatal diabetes (PNDM) (Garin et al., 2010).

Animal studies are required to define the effects of these mutations on clinical disease, pathogenesis, immunity; these studies will be conducted in the future with the S2aa-del strain.

7 Although these observations support the hypothesis of a JME gene existing in the region, they cast some doubt on the importance of EFHC1 coding mutations for disease and/or on the role of EFHC1 in JME susceptibility.

Drosophila is an important model organism to study since it is often applied to interpret the effects of gene mutations on human diseases.

Previously, it was thought that because As does not significantly accumulate in the body, unlike persistent organics or metals such as mercury and lead, and also does not cause DNA damage or mutations, its effects on disease risk might also be transient and reversible.