Not exact matches
Even though there's no
single «morning person
gene» the
results indicate that your love
of the snooze button isn't entirely down to laziness, personal choice or your environment.
The disease
results from a
single mutation in the
gene that codes for one
of the protein chains that make up the hemoglobin molecule.
With a
single local injection
of the USH1G
gene just after birth, the scientists observed a restoration
of the structure and mechanosensory function
of the inner ear hair bundles — profoundly damaged before birth -,
resulting in a long - term partial recovery
of hearing, and complete recovery
of vestibular function in these mice.
Patients with Parkinson's disease may be the first group to benefit from
gene therapy, the much hyped technique that has yet to
result in a
single reliable treatment despite nearly two decades
of experimentation.
The
results of the study were obtained by infecting laboratory - grown cells with forms
of the CMV virus which differed only by the removal
of a
single gene.
According to study co-author Larry J. Young
of Emory University, the
results provide evidence in a comparatively simple animal model that changes in the activity
of a
single gene profoundly can change a fundamental social behavior
of animals within a species.
«To our knowledge, our model is the first in which expression
of a
single gene in postnatal hair cells
results in hair cell survival and hearing preservation in mice that otherwise suffer from age - related and noise - induced hearing loss,» Dr. Chen said.
Results from a statistical analysis shows a cluster
of SNPs —
single nucleotide polymorphisms — in one section
of a
single gene, indicating the location
of a mutation likely linked to autism.
«We report here a
gene therapy dose - finding study in a large animal model
of a severe muscle disease where a
single treatment
resulted in dramatic rescue,» said Childers.
Domain recombination
resulted in greater diversity in pathway response dynamics than did duplication
of genes,
of single domains, or
of two unlinked domains.
As a
result, researchers have tended to focus on point variations, such as the mutation or deletion
of a
single DNA letter within a
gene.
Hereditary predisposition to cancer is sometimes due to a
single high - risk genetic change, like a mutation in the BRCA1 or BRCA2
genes for breast cancer, but most
of the time, the disease is the
result of multiple
gene variants that add up, environmental risk factors, and a big element
of chance.
Gene moonlighting can occur merely through changes in expression, which may
result from as little as a
single mutation; it does not require the meandering process
of random alteration and selection implied by the duplication and neofunctionalization model.
Since a
single disorder might
result from hundreds
of different
gene combinations, it's unlikely that researchers will find one drug that tackles all
of them.
Through the combination
of linkage data and exome sequencing, they have identified a deletion or loss
of a
single base in the
gene encoding STAG3, which
results in a prematurely truncated protein without function.
The university recently received international attention after a group
of 16 scientists based at the Key Laboratory
of Gene Engineering published the results of a controversial experiment in which they genetically modified single - cell human embryos to repair the human β - globin (HBB) gene in a procedure aimed at preventing a serious blood disorder (www.sciencemag.org/content/348/6234/486.fu
Gene Engineering published the
results of a controversial experiment in which they genetically modified
single - cell human embryos to repair the human β - globin (HBB)
gene in a procedure aimed at preventing a serious blood disorder (www.sciencemag.org/content/348/6234/486.fu
gene in a procedure aimed at preventing a serious blood disorder (www.sciencemag.org/content/348/6234/486.full).
The end
result, Bier says, is that both copies
of a
gene could be inactivated «in a
single shot.»
The
results also showed that polymorphism, a genetic variant that can change the way a particular
gene functions, is possible under a wide range
of conditions, which
results in a
single population playing a variety
of different behavioral games.
Cardiomyopathy can be caused by a
single mutation in any one
of a number
of genes, each one
resulting in a slightly different variant
of the disease.
Because
of the
single mutation in GATA4, virtually the entire network
of genes regulated by GATA4 and TBX5 were disrupted,
resulting in disease.
Paris, France, April 3, 2018, 5.35 pm CET — GenSight Biologics (Euronext: SIGHT, ISIN: FR0013183985, PEA - PME eligible), a biopharma company focused on discovering and developing innovative
gene therapies for retinal neurodegenerative diseases and central nervous system disorders, today announced topline
results from the REVERSE Phase III clinical trial evaluating the safety and efficacy
of a
single intravitreal injection
of GS010 (rAAV2 / 2 - ND 4) in 37 subjects whose visual loss due to 11778 - ND4 Leber Hereditary Optic Neuropathy (LHON) commenced between 6 and 12 months prior to study treatment.
In contrast to Mendelian disorders (e.g., Huntington's disease, sickle cell anemia) in which variation in a
single gene causes disease, common complex disorders, such as heart disease, diabetes, and most cancers, develop as a
result of both genetic and environmental factors.
Out
of a total
of five positively selected SNPs, four represented nonsense mutations
resulting in stop codons, three
of these in a
single ApiAP2 transcription factor
gene, and one in SRPK1.
Similar
results are observed in DE analyses
of real data where the use
of count sums instead
of single - cell counts improves specificity and the ranking
of relevant
genes.
Results: We confirmed the Gallus Gallus v5 consensus except for two insertions
of 5 and 1 base pair within the chIFITM3 and B4GALNT4
genes, respectively, and a
single base pair deletion within the B4GALNT4
gene.
Take cystic fibrosis, a genetic disease that creates a life - threatening accumulation
of mucus in the lungs and is known to
result from a
single mutation in a
single gene.
Less than 2 %
of diseases, such as cystic fibrosis, Huntington's chorea, and beta thalassemia,
result from a
single faulty
gene, and only about 5 %
of cancer patients can attribute their diseases to heredity.
It is, therefore, no surprise that a number
of genetic studies have been performed in this breed, with
results proposing a
single major
gene with a large effect on seizures 8, 24 - 26.
This means that it is not associated with the sex chromosomes, but simply determined by a
single gene that one parent can pass to an offspring, the
result having varying degrees
of severity.
For
single -
gene DNA tests to be fully effective in reducing or eliminating inherited disorders, the tests must not be based on any preliminary or assumed relationship, and we must understand the full biology between susceptibility and
resulting development
of disease.