Not exact matches
anemia and others
result from a misplaced base letter
in a
single gene.
Think about it, these
single gene changes are usually what
results in tumor formation, right?
This suggested that obesity
in both obese and db mouse strains
resulted from a mutation
in a
single gene in each case.
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.
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.
By studying Arabidopsis plants for which the
genes for these transcription factors had been selectively knocked out, the group identified a
single transcription factor that when inactive
resulted in longer roots.
«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.
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.
«If [the
result] holds up
in future studies, it suggests that there is a genetic component — and that a
single gene contributes a great deal,» says Leonid Kruglyak, a geneticist at the Fred Hutchinson Cancer Research Center
in Seattle.
Researchers created SUSIBA2 rice by introducing a
single gene from barley into common rice,
resulting in a plant that can better feed its grains, stems and leaves while starving off methane - producing microbes
in the soil.
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.
Phenotypes that
result from changes (i.e., variants)
in a
single gene (i.e., monogenic) and that can be transmitted from parents to offspring
in Mendelian patterns, such as autosomal dominant, autosomal recessive, X-linked, are known as Mendelian phenotypes.
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 factor
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 factor
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 factor
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.
The Cas9 / gRNA - modified fibroblasts were subjected to nuclear reprogramming by somatic cell nuclear transfer,
resulting in live - born goats carrying
single -
gene mutation.
The
single -
gene knockout fibroblasts were successfully used for somatic cell nuclear transfer (SCNT) and
resulted in live - born goats harboring biallelic mutations.
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.
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.
Many acne patients believe this is the case; they try every
single face wash
in the business, every
single acne formula, get no
results, and resign themselves to the fact that they have inherited the «acne
gene».
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.
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.