Sentence examples for demonstration of mutations from inspiring English sources

16, 17 These CSF studies were performed a decade before the demonstration of mutations in the MeCP2 gene 18 as the basis for most cases with the Rett phenotype.

In this context the diagnostic criteria for AD proposed in 2007 [ 14] highlight the usefulness of genetic studies since they would enable a definite diagnosis to be made based on the demonstration of mutations in any of the three genes responsible for autosomal dominant disease: the gene for APP on chromosome 21, for presenilin 1 (on chromosome 14), and for presenilin 2 (on chromosome 1).

Demonstration of specific mutations in tumours thus is a crucial part of deciding which drugs to use in a given patient.

Diagnosis is made via liver biopsy showing copper accumulation and through demonstration of recessive mutations in the ATP7B gene [ 120].

48 The TET family of genes (TET1, TET2, and TET3) have been implicated as tumor suppressors in hematological malignancies, initially with the identification of TET1 as a partner of MLL in rare chromosomal translocations 49 and, later, by the demonstration of acquired mutations targeting TET2 in various myeloid disorders, including AML.

Therefore, also the most reliable demonstrations of KRAS mutations as determinants of resistance to anti-EGFR moAbs, that is, those deriving from post hoc analyses of randomised studies (Karapetis et al, 2008; Amado et al, 2008; Van Cutsem et al, 2009), investigated only codons 12 and 13 genetic variants.

The demonstration of K-ras mutations in angiosarcoma underscores the relevance of these models to human vascular neoplasias (Boivin-Angèle et al., 2000; Hong et al., 2000).

These findings are based on significant CTC detection in HCC but not in NMLD cohorts, associations between CTC detection and HCC prognostic markers, and the demonstration of characteristic HCC mutations in DNA derived from purified CTCs.

Since the demonstration of K-ras mutation as a negative prognostic marker 2 decades ago, 8 studies have supported this finding, but an equal number have failed to confirm this.

Whatever the mechanisms to account for the abnormalities, the observations in multi-centric osteolysis are important for the field since they comprise the first demonstration of a spontaneous mutation in a MMP gene resulting in a human disease.

This inference is further supported by the demonstration of similar-sized mutation hotspots targeted to DSBs created by I-SceI endonucleolytic cleavage in E. coli (Shee et al., 2012), and by similar mutation clustering in yeast cells exposed to alkylating agents or engineered to express various human DNA deaminases (Roberts et al., 2012; Taylor et al., 2013).