Sentences with phrase «new gene defect»

In these people, the disease is the result of a new gene defect (genetic mutation).

Not exact matches

In the current work, they used a new variation of the gene - editing system to repair the defect in both a mouse model and in human cells.

These new findings, along with other recent studies, suggest that the risk for congenital heart defects in Down syndrome can come from several genes and environmental factors, in addition to the substantial risk from the extra chromosome 21.

The benefit of this approach over other gene therapy techniques is that the new method can permanently correct the «defect» in a gene rather than just transiently adding a «functional» one, said Dr. Eric Olson, Director of the Hamon Center for Regenerative Science and Medicine at UT Southwestern and Chairman of Molecular Biology.

They knew that they had found a new type of genetic defect, because the DNA in cancer cells from people with the altered gene was riddled with mutations.

However, animals that had mutations with Pcdha9, but not Sap130, can display defects in the aorta, but with normal - sized left ventricles, suggesting interaction between the two genes is needed to cause all the features of HLHS,» said Xiaoqin Liu, M.D., Ph.D., the first author of the new study and a research instructor in Lo's lab.

Scientists say the new strategy enhances the accuracy for surgical - like editing of the human genome, correcting mistakes in the DNA sequence that cause devastating diseases like DMD, a deadly condition caused by defects in the dystrophin gene.

In the new study, the researchers discovered that during the second trimester of human brain development, oRG cells express genes related to a fundamental signaling pathway called mTOR, defects in which have previously been implicated in autism and several other psychiatric disorders.

Lippman and Cora MacAlister, Ph.D., lead author on the new paper, found that deleting the genes for these enzymes from the flowering mustard plant Arabidopsis thaliana and the moss Physcomitrella patens resulted in similar defects in both species, which are widely separated in evolutionary time.

But the new research suggests that problems with one gene pathway may cause both kinds of defects, says developmental biologist Harold Slavkin of the National Institute of Dental and Craniofacial Research in Bethesda, Maryland.

The researchers» strategy — generating disease - specific nerve cells, identifying a causative gene for developmental defects, validating the gene - specific defect in animal models, and then investigating interactions with other genes both in animal models and in humans — represents a promising new approach for understanding the mechanisms underlying some of the most intractable psychiatric illnesses.

A team of researchers that helped pioneer new gene - based therapies for muscular dystrophy has now pinpointed a genetic defect that leads to heart damage in some of the most severe forms of muscular...

A team of researchers that helped pioneer new gene - based therapies for muscular dystrophy has now pinpointed a genetic defect that leads to heart damage in some of the most severe forms of muscular dystrophy.

Gata5 a potential diagnostic marker for congenital heart disease The finding also suggests that gata5 could be a potential new diagnostic marker for congenital heart defects, as the researchers demonstrated that gata5 regulates the expression of a gene known as nkx2.5 which, when mutated in humans, causes human congenital heart defects and disease.

The challenge for the years to come is to convert data on new genes, gene defects and human genome variation in patients with genetic cardiovascular disease into functionally relevant information on the diverse pathophysiological mechanisms and clinical manifestations.

Known key pathological mechanisms are related to defects in structural proteins, nuclear proteins, intermediate filaments and other cyoskeletal proteins, mitochondrial energy production and ion channels, but new concepts and new genes are rapidly being identified.

Researchers from SciLifeLab have developed a new method to visualize gene defects that causes cancer.

PHILADELPHIA — Knocking out one or both crucial regulatory genes caused cleft lip, skin barrier defects, and a host of other developmental problems in mice, according to new research from the Perelman School of Medicine at the University of Pennsylvania, hinting that abnormalities in these molecular pathways could underlie many birth defects that are presently not well understood.