Sentences with phrase «normal role of the gene»

Not exact matches

«This is an exciting study of a very rare bone disorder that not only identified the responsible mutation in half of the patients, but uncovered fundamental information about the role of a cancer - related gene in the metabolic pathways of normal bone,» said study co-senior author Joan Marini, Ph.D., M.D., of NICHD.

The goal of the NIH program, as described on its website, is «to understand the principles behind the three - dimensional organization of the nucleus in space and time (the fourth dimension), the role nuclear organization plays in gene expression and cellular function, and how changes in the nuclear organization affect normal development as well as various diseases.»

Further research showed that the WWOX gene plays a role in the altered metabolism of cancer cells which are known to use glucose differently to normal cells.

Many of the insertion sites were located within genes that play key roles in normal brain function.

A region of the gene that produces the PACAP38 protein has held nearly constant, even in humans, presumably because the protein plays diverse roles in neuron communication and is essential for normal development of the cerebellum, affecting brain cell migration, for example.

These are different than the mutation that causes HD, but allow researchers to better understand the normal role of the HD gene.

The resulting change in the appearance, behaviour or biochemical characteristics of the mouse then gives an indication of the gene's normal role in the mouse, and perhaps in humans.

Sequencing of the mouse genome coupled with the successful development of transgenic and knockout mouse lines allows researchers to investigate the roles that individual genes play within specific mechanisms of renal physiology under both normal and pathologic conditions (14).

However, the exact roles of these genes in the normal state have remained unknown, as genetic knockout of these genes is lethal.

The aim of this study was to investigate the role of serotonin in depression, searching for association of two serotoninergic polymorphisms (T102C of serotonin receptor 5 - HT2A and serotonin transporter linked polymorphic region -5-HTTLPR - of SLC6A4 gene) with depressive symptoms and considering their possible interactions with Apolipoprotein E... (ApoE) and between themselves, in a sample of 208 sporadic AD patients and 116 normal controls from Italy.

Yet these genes may play important roles in normal processes or in the development or prevention of various diseases.

A mutation provides a «way in'to understanding the role of the gene in normal development.

14:53 - According to Dr Cattaneo, the normal HD gene seems to have important roles during the development of the brain

In a paper published in the latest issue of the neuroscience journal Neuron, McLean Hospital investigators report that a gene essential for normal brain development, and previously linked to autism spectrum disorders, also plays a critical role in addiction - related behaviors.

* Acute promyelocytic leukaemia is caused by the modification of two genes, RAR and PML, leading to the development of cancer cells; ** the gene coding for p53 protein plays an essential role in cell proliferation under normal conditions and in maintaining the integrity of the cell genome.

Another lab member is studying the role the sigma - 1 gene plays in regulating fear response, testing how normal zebrafish react to a stimulus — the flash of a strobe light — and comparing that with the response of sigma - 1 knockouts.

In essence, Knudson, far ahead of his time (and ahead of his own hard data) hypothesized that some genes» normal role in life is to behave as anticancer or tumor - suppressor genes that keep cell division under healthy control.

Positive effects where ROS mediate functions of normal cell metabolism include the induction of host defence genes and mobilisation of ion transport systems, and roles in redox signaling.