Sentences with phrase «gene defects»

It is a single gene defect, but between different breeds, the exact disease - causing gene may differ.

But other gene defects affect how cells self - organize in the embryo while in the womb.

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

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.

Consequently, as a result of gene defects in laminin - α2 the muscles are extremely unstable and even normal use of the muscles leads to muscle injuries, inflammation and finally to the degeneration of muscle fibers.

As reported in the title story of Nature Neuroscience's May issue, an international team has now progressed significantly in understanding gene defects responsible for ALS.

The dogs were chosen because they have inherited a genetic disease caused by the same gene defect as some patients with human retinitis pigmentosa.

A single gene defect called PKD1 has been identified in these breeds.

Researchers at the University of Helsinki have identified a novel gene defect that causes a hereditary blistering disorder of the skin, epidermolysis bullosa, in dogs.

Flyer We are interested in whether certain gene defects, in addition to exposure to certain environmental chemicals, contribute to the risk of lymphoma in boxer dogs.

Up to 50 % of Americans have an MTHFR gene defect of some type that impairs their ability to mthylate properly.

Stem cells cultured in labs are known to build up mutations (see Gene defects plague stem - cell lines), so, to check that their changes weren't making things worse, the researchers sequenced the genome of one of the corrected iPS cell lines and compared it to the genomes of the parental skin cells and the uncorrected iPS cells.

«In neurological disease, it is rare to go from gene defect to therapy so directly, and the fact that this has happened here in one place is perhaps even rarer,» said John Kissel, MD, chair of Neurology at Ohio State and director of the SMA Clinic at Nationwide Children's.

The other obesity gene defect, discovered by Robert Jackson of Addenbrooke Hospital in Cambridge, U.K., with help from O'Rahilly, is a mutation of the enzyme prohormone convertase 1 (PC1).

People with haemophilia A, the commonest form of the disease, need infusions of factor 8 because a hereditary gene defect means they can not make their own.

A Finnish - North American collaboration of scientists at Michigan State University and the University of Helsinki has found a MERTK gene defect responsible for a recently identified form of progressive retinal atrophy in Swedish vallhund dogs.

The pathogenesis has for a long time been quite enigmatic, as only very few gene defects were identified in this often lethal tumour.

Each nerve cell, or neuron, carries the ALD gene defect — which lets scientists like U-M neurologist John Fink, M.D., study how the genetic abnormality affects nerve cells as they grow.

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

LVNC is within the diverse spectrum of cardiac morphologies triggered by sarcomere protein gene defects.

Despite some similar symptoms such as lack of motor control, SMA is caused by an unrelated gene defect.

Thus began a seventeen - year odyssey that led her to discover the first gene defect that predisposes to breast cancer.

Unfortunately people with methylation gene defects can't excrete metals due to impaired cysteine metabolism and reduced glutathione.

In breeds such as the Maine Coon and Ragdoll (where an important gene defect predisposing to HCM has been identified), it is recommended that cats should ideally be screened by ultrasound examination of the heart, and also have a blood sample / cheek swab taken.

Tests Included in this deal: Choroidal hypoplasia, CEA, CH Achromatopsia, Day blindness, Hemeralopia, Rod monochromacy, CD Canine degenerative myelopathy, DM Early onset cataracts, Juvenile cataracts, HC, HSF4, JC Urolithiasis, HUU Ivermectin sensitivity, MDR1 gene defect, Multidrug sensitivity, MDR1 Canine multifocal retinopathy 1, CMR1 Amaurotic idiocy, Batten disease, NCL, NCL6 PRA - PRCD, PRCD

Polydactyly is inherited as an autosomal dominant gene defect, sometimes with variable gene penetration.

«Gene defect as a potential gateway for targeted prostate cancer therapy.»

By combining the transcriptomic analysis to a functional approach, we have revealed a yet unknown neuropathological mechanism of DM1 that links gene defects in cells of the neural lineage to dysfunction in neuritic outgrowth and synaptogenesis.

«Most PRAs, including the one in Phalenes and Papillons, are recessive and caused by single gene defects and small sample numbers can lead to breakthroughs.

About 47 percent of the male mice in the extinct lines were infertile because of gene defects that prevented them from making good sperm.

A novel gene defect that causes a hereditary blistering disorder of the skin, epidermolysis bullosa, was identified in dogs.

Factors such as eczema and rhinitis are associated with food allergy, possibly due to a certain gene defect that prevents the skin barrier from forming correctly, leading to possible exposure of the immune system to allergens.

Leber congenital amaurosis is caused by a gene defect doesn't lead the retina to make a key protein.

15 years after a gene defect was found to increase the risk of schizophrenia 30-fold, scientists have figured out how it might cause the brain disorder's debilitating symptoms

«We wanted to see if there was a way to correct this gene defect to restore function and help these patients with vision difficulties and blindness,» Lin said.

Identifying the gene defect enables the identification of those dogs used for breeding that carry the defect, which, in turn, makes it possible to effectively eradicate the disorder from the entire breed.

In genetic studies conducted by gene researchers at the University of Helsinki, the gene defect causing the disease was found in the COL7A1 gene.

Molecular scissors known as CRISPR / Cas9 corrected a gene defect that can lead to heart failure.

IN GOOD REPAIR CRISPR / Cas9 has corrected a gene defect in fertilized human eggs (left) without hampering embryo development.

WASHINGTON, D.C. — After Christine DeMark told her boss she was getting a test for a gene defect linked to Huntington's disease, her employer «did everything they could to force me to quit,» she said at a press conference here today.

By activating the Ret receptor, the scientists were able to prevent in flies and human cell cultures the degeneration of mitochondria, which is caused by a gene defect related to Parkinson's disease.

Enter gene therapy, which uses a vector — usually a virus — to insert a functioning copy of a gene into cells with a gene defect and could in principle be used to treat many genetic conditions.

Primary immunodeficiency disorders are a group of more than 300 single gene defects that affect the role of the immune system and prevent it from functioning properly.

«The trial is also exciting because it shows that PARP inhibitors can be effective in a wider group of patients than had been thought — in men as well as women, patients with mutations in their tumours as well as those with inherited mutations, and in those with a wider range of gene defects than just BRCA mutations.»

Brain scientists know the gene defect that causes FXS, and the damage it does — misshaping the brain's synapses, the connections between neurons.

Researchers are hopeful that once the gene defect responsible for a blinding disorder is corrected in iPS cells, these cells may be able to restore vision.