Sentences with phrase «of gene loss»

mutation (s) of a gene loss of a copy or reduced expression of a gene increased expression of a gene reliance on a gene functionally or structurally related to another, lost gene (a.k.a., a paralog dependence)

ET: «What this data analysis pipeline, moreover, creates is motivation to look for similar forms of gene loss in other types of symbioses, such as that between humans and their gut microbiomes.

Not exact matches

Advances in molecular biology and bioinformatics have led to an explosion of research on the causes of hearing loss and how to fix it with drugs or gene therapy.

Shares of biotech Spark Therapeutics rose 4.5 % in early Monday trading after the Food and Drug Administration (FDA) agreed to review its gene therapy for vision loss patients who have vision loss due to a rare genetic condition called biallelic RPE65 - mediated inherited retinal disease (IRD).

«Today's approval marks another first in the field of gene therapy — both in how the therapy works and in expanding the use of gene therapy beyond the treatment of cancer to the treatment of vision loss — and this milestone reinforces the potential of this breakthrough approach in treating a wide - range of challenging diseases,» FDA Commissioner Scott Gottlieb said in a statement.

This team also discovered 3,200 genes that had fewer loss - of - function or missense mutations than would be expected suggesting that these are likely disease - causing variants that are rare or absent in the population because of their detrimental effect on human health.

And contrary to your cited reference's claim of a loss of specificity, to the contrary, these duplicate genes were then refined by further mutation to make them better.

A total of 150 women with a history of two or more recurrent miscarriages and 20 fertile control women with no history of pregnancy losses had buccal swabs taken for DNA analyses of 10 gene mutations [factor V G1691A, factor V H1299R (R2), factor V Y1702C, factor II prothrombin G20210A, factor XIII V34L, beta - fibrinogen -455 G > A, PAI - 1 4G / 5G, HPA1 a / b (L33P), MTHFR C677T, MTHFR A1298C].

«Some people are protected from the effects of sleep deprivation by this particular gene variation but, for most of us, sleep loss does something to the brain that simply prevents us from switching gears when circumstances change.»

It may be that some versions of the gene also play a role in deafness caused by environmental conditions, creating a predisposition to hearing loss.

The scientists from the Montreal Neurological Institute and Hospital at McGill University, led by Peter McPherson, along with collaborators in Saudi Arabia, Jordan, Germany, and at SickKids Hospital and the University of Toronto, have discovered that a severe form of epileptic encephalopathy is caused by recessive loss - of - function mutations in the gene DENND5A.

The study, led by Dr Len Stephens and Dr Phill Hawkins and published today in the journal Molecular Cell, reveals why loss of the PTEN gene has such an impact on many people with prostate cancer, as well as in some breast cancers.

Right, shows bone from which the JunB gene of the epidermis has been deleted and where the loss of bone tissue can be seen.

«Autism involves the loss of so many genes,» Yan explained.

PTEN is known as a tumour suppressor gene meaning that it typically slows the growth of cells and its loss can lead to cancer.

After Lin's team first published the link between the ATF6 gene and this type of inherited vision loss, known as achromatopsia or cone - rod dystrophy, a few years ago, people with these conditions began contacting them from around the world.

While they don't have definite answers, besides having good genes, Kawas said, the answer is probably a combination of being resilient to Alzheimer's Disease and also that they did not develop other dementia - causing conditions, such as microscopic infarctions that occur when blood flow is blocked from certain regions of the brain and hippocampal sclerosis, which causes neuron loss.

Robl and Stice, in collaboration with the biotech company Genzyme of Cambridge, Massachusetts, have already created embryos that contain the human gene for albumin protein, which helps restore the blood's osmotic pressure after blood loss.

This study represents a significant step towards the development of clinical trials in gene therapy for the curative treatment of hereditary deafness and balance loss in humans.

As Saaïd Safieddine, CNRS Director of Research at the Institut Pasteur and co-senior author of the study with Prof. Christine Petit (head of the Genetics & physiology hearing unit at the Institut Pasteur), explains, «we have just shown that it is possible to partially correct a specific form of hereditary hearing loss accompanied by balance problems using local gene therapy performed after the embryogenesis of the ear, which is primarily affected by the mutation responsible for the disorder.

Deletion of the fission yeastpot1 + gene has an immediate effect on chromosome stability, causing rapid loss of telomeric DNA and chromosome circularization.

A typical human exome has dozens of these loss - of - function gene variants.

Noting that diet and weight loss surgery are often recommended for the care of metabolic syndrome, Heinrich Taegtmeyer, M.D., D.Phil., professor of cardiovascular medicine at McGovern Medical School, said, «This drug amplifies the biological rhythms of metabolic genes to the extent that the animals burn more fuel and store less fuel.

The team designed the Haploinsufficient / Triplosensitive Gene (HAPTRIG) computational tool to identify pathways significantly disrupted by the loss and gain of genes.

These results indicate that the large losses of cloned cows before implantation probably result from problems with critical developmental genes in the extraembryonic tissue.

This area has not been explored in depth, since experience with other diseases has taught scientists that the loss of one gene copy might not lead to disease symptoms because the second copy provided by the other parent fills in.

A new report by researchers in the Perelman School of Medicine at the University of Pennsylvania found that loss - of - function mutations to Filaggrin - 2 (FLG2), a gene that creates a protein responsible for retaining moisture and protecting the skin from environmental irritants, were associated with atopic dermatitis in African American children.

A team of 18 University of California San Diego School of Medicine and Moores Cancer Center researchers has developed a new tool to analyze an often overlooked aspect of cancer genetics — an alteration that results in the loss or gain in a copy of a gene.

The loss of a single gene in mice can affect social behavior and impair their brains» ability to filter out distractions — both characteristics of several neurological diseases in humans.

So, for example, just to say for the sake of argument, that there's a gene that influences the width of the birth canal, and lets say that some versions of the gene leave women more likely to have trouble giving birth, so that their children have loss of oxygen and that could lead to changes in the brain that lead to lower intelligence scores.

The French team and a British group that discovered the mouse gene both decided to see if the mutation — which hampers the production of a protein called myosin VIIA — might, as in the mice, explain inherited deafness without other sensory loss.

This indicated that loss of the gene might somehow be halting cell growth.

Deafness has long been known to run in families, and while genes for about 60 syndromes that have deafness as one of multiple symptoms have been mapped, only last month did scientists locate the first of the estimated 100 genes that can cause hearing loss alone.

Although there are several ways to remove RB from the cellular machinery, the group found that complete loss, rather than inactivation, of the RB gene was associated with changes in gene - networks closely linked to aggressive disease.

«RB loss causes a major reprogramming of gene expression, allowing induction of pathways that promote features that induce characteristics of lethal disease,» said senior author Karen Knudsen, PhD, Director of the Sidney Kimmel Cancer Center (SKCC) at Thomas Jefferson University.

«Gene therapy restores hearing in deaf mice: Proof - of - principle study takes a step toward precision medicine for genetic hearing loss.»

In 2006, the team led by Christine Petit in the Institut Pasteur's Genetics & Physiology of Hearing Unit, especially Sedigheh Delmaghani, working in cooperation with Paul Avan's team at the University of Auvergne's Laboratory of Sensory Biophysics, identified a new gene that was responsible for early - onset sensorineural hearing loss.

Tallying the genes that were most perturbed by loss of Lef1 in this brain region revealed that over 20 were involved in mood disorders like depression and anxiety.

Identification of the genes represents a vital step toward developing compounds that can be used in targeted, individualized treatment of severe periodontitis, before loss of teeth and supportive bone occurs.

One type had the TMC1 gene completely deleted, and is a good model for recessive TMC1 mutations in humans: Children with two mutant copies of TMC1 have profound hearing loss from a very young age, usually by around 2 years.

However, Holt's study also showed that gene therapy with TMC2 could compensate for loss of a functional TMC1 gene, restoring hearing in the recessive deafness model and partial hearing in the dominant deafness model.

But what did change: genes that during development would normally cause the loss of connections between neurons were switched on again in the aging astrocytes.

If it weren't for telomerase, this gradual shortening would eventually lead to the complete loss of the telomeres in cells that replicate frequently during a life span, and thus the gradual erosion of the genes themselves.

In the case of CHD2, scientists collaborating with the EuroEPINOMICS RES consortium used antisense technology to rapidly generate zebrafish larvae with a partial loss of function of this gene, and were then able to detect epileptic seizures in these animals using electrographic analysis (this method is very similar to electroencephalography, or EEG, which is used to analyze seizures in humans).

They identified previously unknown recurrent loss - of - function mutations that target genes regulating epigenetic pathways — ones that act on how tightly or loosely chromosomes are wound and thus accessible for genes to be expressed.

In a mouse model of eczema, loss of the HTR7 gene in mice led to significantly less scratching and less severe skin lesions.

Researchers from the Eaton - Peabody Laboratories of the Massachusetts Eye and Ear and Harvard Medical School have created a new mouse model in which by expressing a gene in the inner ear hair cells — the sensory cells that detect sound and sense balance — protects the mice from age - related hearing loss (ARHL) and noise - induced hearing loss (NIHL), the two most common forms of deafness.

After suppressing mitochondrial function using the drug antimycin, Chen and Birsoy saw that cells with mutations inactivating the gene ATPIF1 were protected against loss of mitochondrial function.

A case in point: the new gene therapy for Leber congenital amaurosis, the eye disorder that causes progressive loss of vision, usually leading to complete blindness by age 40.

«Scientists identify proteins crucial to loss of hearing: Proteins play key role in genes that help auditory hair cells grow.»