Sentences with phrase «gene defects in»

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

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).

For instance, a couple who each suffers from beta thalassemia might only have healthy children free from the inherited blood disorder if they were able to produce embryos in which the genetic defect was corrected using gene editing.

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

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.

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.

«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.

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.

Almost immediately such familial genome sequencing proved its value, uncovering mutations responsible for diseases caused by defects in a single gene.

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

Researchers at IRB Barcelona study CEP63, a gene that is mutated in Seckel Syndrome, a rare disease that causes microcephaly and growth defects.

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 genIn 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 genin 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.

Their blindness was caused by either mutations in the genes RPE65 or LRAT, leading to a serious defect in the retinoid cycle.

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.

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

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.

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.»

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.

The two proteins have different biochemical properties and recognize different DNA sequences, so these properties create more options for gene - editing,» said Dr. Olson, who holds the Pogue Distinguished Chair in Research on Cardiac Birth Defects, the Robert A. Welch Distinguished Chair in Science, and the Annie and Willie Nelson Professorship in Stem Cell Research.

A second group has found in an obese woman a defect in the gene for a hormone - processing enzyme.

But when these marks are erased, activated transposons can disrupt critical genes, causing dramatic defects in development.

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

One team has found in two children mutations in the gene for the metabolic hormone leptin, which in mice tells the body it's satiated; defects in this gene had not previously been found in obese people.

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 cellIn 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 cellin both a mouse model and in human cellin 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.»

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.

Even small defects in the genes that assemble tubulin are associated with serious developmental disorders, such as Kenny - Caffey syndrome and Giant Axonal Neuropathy.

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.

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.

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.

«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.»

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.

Gene therapy relies on introducing into the body genetic material that can help fight a disease or correct a defect in a patient's DNA.

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.

«Based on our findings, we think mice with these ASD - associated gene mutations have a major defect in the «volume switch» in their peripheral sensory neurons,» says first author Lauren Orefice, a postdoctoral fellow in Ginty's lab.

Mutations that inactivate this gene cause severe birth defects in humans.

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 neuronIn 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 neuronin 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 neuronin 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 neuronin autophagy in neuronin 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.