Sentences with phrase «abnormal gene function»

Not exact matches

To determine the effect of mutations that reduce TET2 function in abnormal stem cells, the research team genetically engineered mice such that the scientists could switch the TET2 gene on or off.

These splice sites instruct the genetic machinery to build abnormal dystrophin molecules, but once the gene is successfully edited it expresses a much - improved dystrophin protein product, enhancing the function of the muscle tissue.

The most common genetic mutation in ALS and FTD is an abnormal repeated expansion of the coding sequence within a gene, C9ORF72, with unknown function.

However, this cellular intervention alters the normal expression of hypophosphorylated retinoblastoma (RB) protein needed for the expression of genes involved in cell functions [3] and, therefore, results in an abnormal cell.

His research focuses on the regulation of genes that are important for fetal heart development, and the abnormal genetic functions that lead to congenital heart disease.

By combining pieces of different genes, fusion genes can lead to production of abnormal proteins that disrupt cell function.

Cancer Center invesigators find that abnormal methylation disables tumor suppressor genes, leading to the loss of normal cell function.

The new study, published today in the journal PLoS Genetics, identifies abnormal functioning in a gene called PKP2 that encodes the plakophilin - 2 protein, which promotes and maintains a healthy skin barrier.

Although known to have neuronal cell functions STK38L has not previously been associated with abnormal photoreceptor function; being associated with such a disease in dogs establishes this gene as a potential candidate for similar diseases in other species, including man.

This is important given that correlational studies can not disentangle effects of parenting from gene - environment correlations (ie, maltreating parents may also transmit genes predisposing to abnormal HPA functioning to their children).