Sentences with phrase «gene defect called»

Not exact matches

The less adept mice, Rubin's team found, carry extra copies of a previously known human gene called DYRK; a mutated version of an almost identical gene in fruit flies, called minibrain, causes neurological defects.

Recently he found that eight of the youngsters have a defect in a gene that codes for a receptor protein called melanocortin - 4, known to regulate eating in mice.

His suspicionswas confirmed: the children had an identical defect — a missing single nucleic acid, called guanine — in the gene coding for leptin.

One of these mutants was found to have a defect in a gene the team calls moc1, for «Monokaryotic Chloroplast 1.»

A forward genetic screen in Drosophila melanogaster (fruit flies) identified mutant copies, or alleles, of a gene called cacophony associated with defects in autophagy and cellular homeostasis.

Her specific condition, called ADA - SCID, had long tantalized researchers seeking to repair genetic defects with a technique called gene therapy.

Senior author on the paper, Deepak Srivastava, MD, director of cardiovascular and stem cell research at Gladstone and a pediatric cardiologist at the University of California San Francisco (UCSF), had previously discovered that disruption of one of two copies of a master gene called NOTCH1 can cause valve birth defects and CAVD.

A team including researchers from Rensselaer Polytechnic Institute have discovered that a specific gene may play a major role in the development of a life - threatening birth defect called congenital diaphragmatic hernia, or CDH, which affects approximately one out of every 3,000 live births.

It is a landmark moment: 22 years after the cystic fibrosis gene was discovered, some patients are about to receive a drug called Kalydeco to treat the defect that causes their lungs to clog up with sticky mucus.

Choroideremia is caused by defects in the CHM gene, which produces a protein called REP - 1 and affects one in 50,000 people.

The defect in the responsible mouse gene — called klotho, after the goddess in Greek mythology who spins the thread of life — accelerates the onset of disorders such as atherosclerosis and osteoporosis.

«We found that UBQLN4 gene variant interferes with a pathway involved in breaking down a certain protein called beta catenin, and the resulting accumulation of this protein leads to defects in the motor neuron structure.

The babies are all suffering from a rare hereditary disease called Hurler's syndrome, caused by a defect in the gene that produces the enzyme.

In 2006, researchers discovered the genetic defect behind FOP: A mutated version of the gene ACVR1, which in patients produces an overactive form of a cell surface protein called a transmembrane receptor.

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.

By performing DNA sequencing of more than 4,000 families affected by neurological problems, the two research teams independently discovered that a disease marked by reduced brain size and sensory and motor defects is caused by a mutation in a gene called CLP1, which is known to regulate tRNA metabolism in cells.

We perform the transient silencing of several genes in parallel by RNA interference in order to identify those able to modify two types of DM1 biomarkers expressed by one DM1 - hES cell line progeny: the pathological intranuclear ribonucleoaggregates called foci and the insulin receptor splicing defect.

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).

In addition, drugs called PARP inhibitors, which have been shown to benefit some ovarian cancer patients with BRCA mutations, may be of use for prostate cancer patients with the gene defects.

X-linked SCID, the most common form of SCID, is caused by defects in a gene encoding a critical protein called the common gamma chain.

The research reveals that a gene defect causes a sodium transporter called NBCe2 to overwork.

The «lethal white» gene that results in hearing and vision defects is not actually lethal, but is called so because white Aussies are often euthanased by breeders due to their risk of passing on defective genes or developing hearing and vision problems.