Sentences with phrase «by gene loss»

Additionally, we support and expand upon the hypothesis that X inactivation is primarily driven by gene loss on the Y. Using linear discriminant analysis, we show that X-inactivation status can successfully classify 90 % of X-linked genes into those with functional or nonfunctional Y homologs.

Not exact matches

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.

«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.

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.

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

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.

First, it would necessarily involve denying cancerous cells access to some tool that is absolutely indispensable to their survival, so that they couldn't just make up for its loss by tweaking some other gene expression pathway through mutating its other genes.

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.

Their work, published online July 8 by the journal Science Translational Medicine, could pave the way for gene therapy in people with hearing loss caused by genetic mutations.

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.

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.

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.

But they think that by looking at some of the chemical basis of, you know, weight loss and / or weight gain, then by manipulating it — and they also look for the genes involved in these chemical signals — then they can possibly translate that into drugs for humans or just understanding better the mechanism of weight loss and weight gain.

FSHD is an unusual genetic disorder because, unlike most genetic diseases, it is not caused by the loss of a functional gene, but rather by the modification of an existing gene, through a genetic mutation.

The loss of beta cell function may be driven by a defect in Clec16a, a gene responsible for getting rid of old mitochondria, the powerhouses of cells, and making room for fresh ones.

The loss of the mark leads to inappropriate gene expression as shown by the re-expression of genes usually only seen late in embryo development.»

Examination of those people's exomes, the small portion of the genome that encodes proteins, revealed that among a subset of 821 participants, a total of 781 genes were rendered obsolete by «loss - of - function» mutations.

«Gene knockout: Loss of a gene can be compensated by another gene: Effects of genome interventions depend on the methods used.&raGene knockout: Loss of a gene can be compensated by another gene: Effects of genome interventions depend on the methods used.&ragene can be compensated by another gene: Effects of genome interventions depend on the methods used.&ragene: Effects of genome interventions depend on the methods used.»

Now, in the 14 May issue of Science, Kobayashi and his colleagues report that the same gene has been mutated in white grapes by a bit of pushy DNA, resulting in loss of skin color.

Some of the common genetic alterations identified in the study were gains and losses in chromosome 8, as well as cell proliferation and cell - cycle progression — key mechanisms of cancer caused by genetic alterations — linked to the genes AURKA, AURKB and FOXM1.

Secondly, this is the first research to demonstrate that the loss of hair cells and hearing can be curtailed in USH3 mice by clarin - 1 gene therapy.

At issue is gene therapy for a rare form of inherited blindness known as Leber's congenital amaurosis (LCA) that results in complete vision loss by about age 40.

As reported in the new study, the researchers were able to postpone the onset of hearing loss and associated hair cell degeneration by about a month, providing enough time to inject normal copies of the Clarin - 1 gene into the ear before the onset of hearing loss to see if the treatment was effective.

«We found that gene therapy blocked progressive hearing loss and improved hearing in treated mice by nearly four orders of magnitude compared to untreated sibling controls,» said Alagramam.

According to a law passed on 18 June by the Bundestag, farmers and researchers will be liable for any loss of income if a neighbor's produce is contaminated by wayward pollen and can't be certified as «gene - free» — the popular term in Germany for conventional crops.

«We note that there are two subgroups of breast tumors by epigenome: one which we have called Epi - Basal, characterized by loss of epigenetic marks causing breakage of chromosomes and the other that we have called Epi - Luminal B, that presents epigenetic inactivation of genes that should protect us from cancer and these altered cells can no longer do it.»

In previous work, Dr. Ryosei Minoda, head of the Department of Otolaryngology at Kumamoto General Hospital, reported that hearing loss was restored by gene therapy to the inner ear of Connexin 30 deficient fetal mice.

To determine whether the FLRG transgene was causing increased muscle growth by blocking myostatin activity, I examined the effect of combining the FLRG transgene with a loss - of - function mutation in the myostatin gene.

WAS is caused by mutations that lead to the loss or dysfunction of the WAS gene, which is found on the X chromosome.

Dr. Zhu said loss of the gene and the protein it expresses may accelerate regeneration by reorganizing how genes are packaged in the genome so that the cells can more easily switch back and forth toward a more regenerative state, sort of like a toggle switch.

Retinitis pigmentosa (RP) is a genetic disease that causes progressive loss of vision and is caused by mutations in more than 50 genes.

TSC is a multi-system autosomal dominant disease caused by loss - of - function mutations in the TSC1 or TSC2 gene.

SMA is caused by a loss of, or defect in, the survival motor neuron 1 (SMN1) gene leading to a decrease in the protein, survival motor neuron (SMN).

Although persistent loss of IGF - 1R expression ultimately induced cell stasis and death, both of these processes are regulated by the tumor suppressor gene p53 that is commonly mutated in human prostate cancers.

The discovery of short hairpin RNAs (shRNAs) suppressing gene expression in mammalian cells enables large - scale loss - of - function screens by using genome - wide shRNA libraries.

Here we aimed to create a catalog of autosomal genes that are completely knocked out in humans by rare loss - of - function mutations.

In most cases of familial motor neuronopathy, the disease is caused by either gain - of - adverse - effect mutations or partial loss - of - function mutations in ubiquitously expressed genes that serve essential cellular functions.

Our colleagues at Gladstone are using this knowledge to search for small molecules that can affect gene regulation and reverse some of the problems caused by the loss of these transcription factors.»

We propose that the age - related decline in the regenerative behavior of glial cells is caused by loss of cell - to - cell communication and changes in the internal gene expression of glia cells.

Some researchers seek gene therapies that might act more broadly on retinal cells, perhaps by using genes that produce proteins supporting the growth and health of nerve cells, which could be delivered before significant vision loss occurs.

To identify key molecular mediators of the ABL kinases implicated in the regulation of the ABL1 / ABL2 - dependent pathways, we analyzed the expression of individual genes for transcripts altered by loss of the ABL kinases.

It is caused by biallelic loss - of - function mutations in the gene COL7A1, which codes for the extracellular protein collagen VII.

Wilms» tumor is a childhood kidney cancer caused by the loss or inactivation of a tumor suppressor gene called QT1 on chromosome 11.

Moreover, many human tumors have highly abnormal numbers of chromosomes (that is, they are aneuploid), with initial chromosomal loss participating in the early steps of the transformation cascade in inherited cancers caused by heterozygous mutation in tumor suppressor genes and the more widespread aneuploidy characteristic of advance tumors thought to drive acquisition of malignant growth properties.??

«This is the plot twist that gives away the story,» says Sharma, because it allows scientists like him to trace the evolutionary and genetic history of this group of animals, united by their loss of a particular gene.