Sentence examples for methylation defects in from inspiring English sources

Future studies should investigate the origin of the observed DNA methylation defects in DS.

Methylation defects in BWS can be identified by qualitative and quantitative methods.

OAT patients display increased methylation defects in the DAZL promoter CGI when compared with NZ controls.

Several groups have demonstrated multilocus methylation defects in specific imprinting syndromes as in BWS [ 16, 17] or in TNDM [ 39].

In addition to methylation abnormalities for the 4 GNAS DMRs, we found multi-locus methylation defects in 8 PHPneg and 1 patients6 patients (Fig.  5).

Moreover, the clinical overlap between the different IDs is reflected on molecular level by the identification of similar multilocus methylation defects in different phenotypes.

Among the 19 TNDM patients tested, two had paternal isodisomy of chromosome 6, seven from 4 families had paternally-derived trisomy of the 6q region, and two had a methylation defect in the 6q24 region.

A DNA methylation defect in CD4+ T cells has long been observed in idiopathic and drug-induced lupus.

Recent studies utilizing high-throughput technologies have further characterized the nature of the DNA methylation defect in lupus CD4+ T cells.

Remarkably, the cases with partial loss of methylation in KCNQ1OT1 and SNRPN present clinical features different to those associated with the corresponding imprinting syndromes, suggesting a multilocus methylation defect in accordance with our initial hypothesis.

Much attention has been directed to the study of genetic events such as the activation of oncogenes, inactivation of tumour suppressor genes due to mutations and methylations, defects in mismatch repair genes, and mutations of mtDNA.