Sentence examples for dosage alterations from inspiring English sources

Notably, dosage alterations in parkin account for greater than 50% of mutations detected in some cohort studies.

These effects were mediated by dosage alterations of RUNX1, ETS2, and ERG, which are located in a critical 4-Mb region of chromosome 21.

Additionally, probes for the DNA methyltransferase genes were produced to determine if gene dosage alterations were responsible for increasing methylation activity during Barrett's neoplastic progression.

We investigated the effect of gene dosage alterations on the proteome of mouse embryonic stem (ES) cells.

Clinically relevant examples of gene dosage alterations have already been documented for factors controlling mammalian sex development.

However, rare pathological gene dosage alterations could still be found in future series and the method we have developed could be used punctually as a second approach since it proved effective and quick.

We combined bioinformatic and experimental approaches to test whether miRNAs located in regions of gene dosage alteration had concordant altered expression, and therefore of importance.

We detected no gene dosage alteration in a total of 159 patients suspected of MKD, CAPS or TRAPS.

A quite different situation was found for the two cell lines with the dosage alteration in 14 genes: If duplicated, 60% of proteins were up-regulated and 40% were down-regulated (40%).

A significant fraction of CNVs are likely to have functional consequences due to gene dosage alteration, disruption of genes or gene-fusion, positional effects, or the uncovering of deleterious alleles [7].

The existence of a significant number of patients with convincing symptoms though not carrying point mutations suggests that other genes and/or mutational mechanisms, such as gene dosage alteration, could be involved in the etiology of hereditary recurrent fever syndromes.