Sentence examples for mutation in association from inspiring English sources

On the contrary, sensitivity to 2,5-HD induced cell death was greatly increased in LHON cells carrying the 11778/ND4 or the 14484/ND6 mutation on haplogroup J, whereas the 11778/ND4 mutation in association with haplogroups U and H significantly improved cell survival.

This study also demonstrated that a paternal ABCC8/KCNJ11 mutation in association with diazoxide-unresponsive disease is not synonymous with a focal lesion.

At locus rs312347405, a missense mutation in association with all three eggshell traits was then fitted into the multivariate model using its genotype as covariate to explore the change of the associations with other loci.

Inactivation of CDKN2A (p16, cyclin-dependent kinase inhibitor 2A gene) is also a common event in pancreatic cancer, occurring by intragenic mutation in association with allelic loss, homozygous deletion, or hypermethylation [ 18, 19].

Further the predicted R326H and R356Q mutations can be further studied by wet lab scientist to investigate the evidence of Tyrp1 protein mutation in association to OCA3 and develop a potent drug target for OCA3.

Consistent with this prediction, we found this mutation in association with the severe infantile form of the disease either in homozygosity (Table 1, pts #3, #14, #19) or compound heterozygosity (Table 1, pts #4, #11, #16).

Following the discovery of KRAS mutations in association with anti-EGFR moAbs resistance, the KRAS mutational characterization of mCRC tumours is, currently, preformed in routine basis before any treatment decision.

In conclusion, ASXL1 mutations in association with other genetic alterations may have a role in the development of MDS but contribute little to disease progression.

Nearly 100 GATA2 mutations have been described, either as germ-line genetic defects or somatic mutations in association with other drivers, such as biallelic CEBPA mutation in AML (Fig 2, Tables I and SI).

Furthermore, Hertzberg et al. [ 21] demonstrated that patients with Down syndrome associated ALL harbored JAK2 mutations in association with altered CRLF2 overexpression, which in some patients was caused by an activating somatic mutation, F232C, in the CRLF2 gene.

We previously reported inherited recessive SDHB mutations in association with a paediatric primary mitochondrial phenotype and this case also lacked a history of hereditary cancer (Alston et al. 2012).