Sentences with phrase «other gene defects»

Not exact matches

«Excess folate prevents defects in DNA through methylation, a chemical process of silencing some genes but not others,» she says.

Studies have shown that more than 50 % of all human cancers carry defects in the p53 gene, and almost all other cancers with a normal p53 function carry other defects which indirectly impair the cancer - fighting function of p53.

Brueckner's group looked for gene defects in two strains of mice with situs inversus, a mutation in which the heart, lungs, and other organs are inverted, like a mirror image.

PARP inhibitors are used primarily to treat tumors linked to defects in BRCA genes, but may show promise in other cancers when combined with other drugs.

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.

For example, they identified SNVs in genes encoding the collagen proteins that make up bone and cartilage, and in genes where other mutations have caused defects similar to Ata's, such as fewer - than - normal ribs or short stature.

This causes only mild thalassemia, but because other genes are deleted as well, there are additional problems — such as birth defects and mental retardation — that do not occur in most thalassemias.

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.

Other genetic defects associated with hypertrophic cardiomyopathy — six different genes have been linked to the disease — may work similarly by producing abnormal proteins involved in contraction, says Sweeney.

«This is an important finding that will help future researchers, and eventually physicians, to maximize the effectiveness of gene therapy for curtailing sensory deficits associated with USH3 syndrome and, perhaps, in other disorders linked to defects in single genes,» said Alagramam.

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.

Although mutations had been identified in other genes important for the recycling of bile acids, this is the first report in humans of disease - associated defects in this gene, called Organic Solute Transporter - beta (SLC51B).

Surveillance that is not stringent enough, on the other hand, would allow eggs with a lot of jumping gene - related errors to survive, and lead to a high level of birth defects, such as those caused by an incorrect number of chromosomes in the offspring.

Testing for additional genes in the pathway and in a number of pathways is done through a number of commercial resources; the only other clinically relevant test is the homologous recombination defect assay, which is commercially available from Myriad Genetics.

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.

If one copy of one of these genes from one parent is already mutated at birth, the second normal copy from the other parent often can compensate for the defect.

Other projects focus on studying how mutations found in the genes for skeletogenic transcription factors cause skeletal and other defects in human patients and finding ways to overcome the negative effects of these mutations in patiOther projects focus on studying how mutations found in the genes for skeletogenic transcription factors cause skeletal and other defects in human patients and finding ways to overcome the negative effects of these mutations in patiother defects in human patients and finding ways to overcome the negative effects of these mutations in patients.

The recent Nature paper «High - throughput discovery of novel developmental phenotypes» describes the systematic high - throughput phenotyping screens used in the knock out mice and gives insight into a variety of gene function while a strong correlation was found between genes causing lethality in mice and genes causing diseases in humans, including cardiovascular defects, spina bifida, and metabolic disorders, among many others.

The Kleefstra syndrome is a rare disease with intellectual disability, autism spectrum disorders and other developmental defects caused by EHMT1 gene mutation in humans.

When the gene defect doesn't start making its presence known until adulthood, it produces crippling nerve damage and other effects.

This approach may also be applicable to a number of rare genetic diseases caused by splicing defects, including ataxia telangiectasia, congenital disorder of glycosylation, and Niemann - Pick disease type C. Although the three DMD studies referenced here represent a great step forward for CRISPR gene therapy, it's important to realize that DMD is a simpler case than other genetic diseases we'd like to treat with CRISPR.

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.

It is likely that other (as yet unidentified) gene defects and other environmental and biological factors all influence the development of HCM.

Nature immediately weeds out that unhealthy gene package just as it does other serious congenital defects unless breeders intercede to prolong life.

Since all dogs with CEA have CH it can be managed in the same way one would manage any single gene recessive trait even though other as - yet unidentified genes cause the more serious defects.

However, merle may be a risk factor when combined with whatever other gene (s) underlie the defect.

I mentioned earlier that veterinarians believe that the underlying cause of hypertrophic cardiomyopathy (and perhaps the other cardiomyopathies as well) is a genetic defect in genes that direct how the heart muscle is constructed.

Other as yet unidentified genes, environmental effects, or regulatory DNA play a role in determining exactly what defects a dog will have.

Collie eye defect in dogs is inherited through a recessive gene, previously believed to only be seen in collies, but can affect other breeds as well.

In 2001, Katrina Mealey, DVM, PhD, discovered that collies and other dogs with herding - breed heritage have a defect in the MDR1 (multidrug resistance 1) gene.1 The nomenclature for the MDR1 gene also includes the designation ABCB1 gene (adenosine triphosphate — binding cassette transporter).