Sentences with phrase «of gene defects»

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

Not exact matches

Our genome is nearly identical to the chimpanzee genome, a little less identical to the gorilla genome, a little less identical to the orangutan genome, and so on — and this correspondence is present in ways that are not needed for function (such as the location of shared genetic defects, the order of genes on chromosomes, and on and on).

There is a good deal of writing on the Bush clan; and much of it reveals some defects in the Bush gene pool.

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

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.

These results unexpectedly establish that inner ear defects due to major morphogenetic abnormalities of the hair bundle can be reversed even after birth, with durable efficacy, by gene therapy.

To date, mutations in more than 100 genes have been associated with inner ear defects, and it is estimated that mutations in more than 100 genes can cause genetic forms of deafness.

Philadelphia — Ten years ago this month the promise of using normal genes to cure hereditary defects crashed and burned, as Jesse Gelsinger, an 18 - year - old from Tucson, Ariz., succumbed to multiorgan failure during a gene therapy trial at the University of Pennsylvania.

Damage to human chromosome 9 (of the cell's 24 pairs) where the gene that codes for E-NTPDase2 resides is known to cause eye and brain defects, such as microphthalmia — literally, small eyes.

ORDINARY cells from people with a genetic disease can be «fixed» by gene therapy and then reprogrammed to be stem cells that will produce a limitless supply of defect - free cells.

The deregulation of several of these genes in patients with chronic ulcers, suggest that defects in the formation and / or function of these two different structures may induce defect of wound - healing leading to chronic ulcer formation.

Mice born with extra copies of a human gene develop learning defects that may resemble those in Down syndrome.

In living people, a rare mutation that causes members of a family to produce half the usual amount of FOXP2 protein also triggers severe speech defects, notes Simon Fisher, director of the Max Planck Institute for Psycholinguistics in Nijmegen, the Netherlands, who discovered the gene.

To determine if defects in the atrial natriuretic peptide (ANP) system can cause hypertension, mice were generated with a disruption of the proANP gene.

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.

These defects appear to be a result of the cloning process rather than the introduced gene, considering that team member Jing Kang of Harvard University has been able to breed and raise multiple generations of the mice without any such defects.

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

By swapping some of one mother's genes for another, an offspring can end up without birth defects (but with two mothers).

The study found that zebrafish that failed to inherit specific genetic instructions from mom developed fatal defects earlier in development, even if the fish could make their own version of the gene.

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.

Using a combination of old - fashioned clinical observation and modern biochemical analysis, he has shown that a person's appetite and their eating behavior can be linked to specific genes — and that even a tiny defect such as the absence of a single nucleic acid in a sequence of DNA can lead to runaway weight gain.

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

The UT Southwestern group had previously used CRISPR - Cas9, the original gene - editing system, to correct the Duchenne defect in a mouse model of the disease and in human cells.

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.

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.

Researchers from Massachusetts General Hospital (MGH) led a large, international research team that has identified gene mutations associated with a rare congenital condition involving the absence of a nose and often accompanied by defects involving the eye and reproductive systems.

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.

In both groups, 30 per cent of flies died, with specific defects showing that the silenced genes controlled mainly early - stage development.

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

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.

«Mutations responsible for cleft palate and related birth defects identified: Study of Amish and Saudi Arabian families finds mutations in HYAL2 gene that impact development.»

Researchers located a novel gene mutation causing cleft lip and cleft palate defects, which slows the turnover of hyaluronan, an important component of the hard palate.

Until now, hundreds of labs searching for a leptin defect or another gene that might cause human obesity had come up empty - handed.

They found methylation defects on several human genes in the cord blood and placentas of ART embryos, suggesting that a similar effect might be occurring in humans as well.

Kingsley's team had no idea what the normal gene does, but a team at the University of Tokyo had recently identified the genetic defect behind a similar mouse disease — and determined that its protein product normally generates pyrophosphate on the outside of joint cells to keep the joints scale - free.

Professor Carola Vinuesa, Co-director of the Centre for Personalised Immunology, said research was showing lupus was primarily caused by defects in only one or a few genes.

«This also raises the possibility that mild mutations in cohesin genes may be the cause of some fraction of congenital heart defects in the general population,» she says.

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.

«Studying congenital heart defects in the «at risk» Down syndrome population can make it possible to reveal genes that impact the risk of heart defects in all children, including those with typical number of chromosomes.»

Doctors have been experimenting with gene therapy to supply healthy copies of a gene to patients suffering from a genetic defect.

Unless sufficient cohesin was present in the developing mouse brain, the researchers showed that the regulation of a number of genes was disrupted, leading to neuronal defects and increased anxiety.

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.

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.

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.

In a report that appears in PLOS BIOLOGY, Dr. Hugo Bellen and his colleagues at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital and BCM, and Dr. Chao Tong, at the Life Sciences Institute and Innovation Center for Cell Biology, Zhejiang University in Hangzhou, China, find that mutations of human homologs (genes that carry out similar functions) of cacophony and its partner straightjacket (Cacna1a and Cacna2d2 respectively) cause defects in autophagy in neurons.

And gene therapy offers an elusive promise of fixing fundamental defects in our DNA.

Eggleston's part of the project was aimed at finding genetic markers that would help biologists zero in on the genes that cause defects in purebred dogs, such as hip dysplasia and epilepsy.

Inbreeding is usually bad news for offspring because they are more likely to display genetic defects hidden in the recessive genes of their parents.

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.

Further investigation of this pathway revealed the gene whose mutation caused the defect.