This suggested that obesity in both obese and db mouse strains resulted from
a mutation in a single gene in each case.
A rare condition that causes a person be born without fingerprints can now be explained by
a mutation in a single gene, a new analysis suggests
Many are known to be caused by
mutations in single genes, yet for the vast majority no treatments are available.
SMA1 is a progressive, childhood, neuromuscular disease caused by
a mutation in a single gene.
Unlike other autoimmune disorders with associated risk factors, APECED is clearly caused by
a mutation in a single gene, based on analyses of affected families.
McCauley's interest is cystic fibrosis, a disease caused by
mutations in a single gene, CFTR.
Cystic fibrosis is a rare inherited disease caused by
mutations in a single gene called cystic fibrosis transmembrane conductance regulator (CFTR) and affects 1 in every 2500 newborns in the UK and over 90000 people worldwide.
A mutation in a single gene produced extra sweat glands in Asian people's skin, perhaps to help them keep cool in the warm and humid climate
Fragile X, which is caused by
a mutation in a single gene on the X chromosome, affects about 1 in 4,000 men and 1 in 6,000 women.
Cystic fibrosis is a hereditary disease caused by
mutations in a single gene called CFTR.
Professor Cattaneo's laboratory works on Huntington's Disease, a brain neurodegenerative disease caused by
the mutation in a single gene.
SMA1 is a devastating, progressive neuromuscular disease in infants caused by
a mutation in a single gene, SMN.
About Spinal Muscular Atrophy Spinal Muscular Atrophy is a genetic, motor neuron disease caused by
mutations in a single gene, SMN1.
The tool, in particular, could be ideal for both these diseases, scientists think, because each is caused by
mutations in a single gene that makes hemoglobin, the protein in the red blood cells that transports oxygen throughout the body.
Earlier cases of resistance were largely due to
mutations in single genes — trump cards that immediately made for invincible parasites.
In humans, PKD is one of the most common diseases caused by
a mutation in a single gene.
The most common genetic killer of infants, a disease known as spinal muscular atrophy, is caused by
mutations in a single gene.
Research on the CREB gene emphasizes the reductionist approach, in which elements of the complex phenomenon of memory formation are reduced to
mutations in a single gene and studied in a simple model system, the fruit fly Drosophila
A mutation in a single gene has been linked to cases of severe obesity, offering scientists new targets for future gene therapy drugs (Credit: < a href ="https://depositphotos.com/19154541/stock-photo-serious-doctor-examining-a-patient.html" rel="nofollow"> sunabesyou / Depositphotos )
A mutation in a single gene has been linked to cases of severe obesity, offering scientists new targets for future gene therapy drugs (Credit: sunabesyou / Depositphotos)
Unlike rare diseases, which typically stem from
mutations in a single gene, common diseases emerge from mutations in multiple genes, sometimes tens or even hundreds of them.
A mutation in a single gene has been linked to cases of severe obesity, offering scientists new targets for future gene therapy drugs
Among the specific findings is the confirmation that
mutations in a single gene, TP53, are present in more than 96 percent of all such cancers.
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.
AGTC's lead product candidates focus on rare diseases of the eye, caused by
mutations in single genes, that significantly affect visual function and currently lack effective medical treatments.
Not exact matches
An article
in New Scientist (12 May 2012) explored the fact that a double
mutation of a
single gene seems to have taken place about 2.5 million years ago, beginning the separation of homo from Australopithecus.
Blakemore argues that a
single gene mutation could
in fact have been the cause of this increase - for
in fact only one extra cell - division step would cause a doubling of brain size.
Jaenisch says that the method that identified the
single point
mutation in SNCA's enhancer could be used to pinpoint additional pathogenic
genes for sporadic PD and sift through the GWAS hits for other diseases, including Alzheimer's disease, cancer, diabetes, and multiple sclerosis.
Researchers from Duke University had previously used CRISPR to correct genetic
mutations in cultured cells from Duchenne patients, and other labs had corrected
genes in single - cell embryos
in a laboratory 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.
The paper was a landmark, demonstrating «that a
single gene mutation in the mouse could extend life span,» says gerontologist Richard Miller of the University of Michigan Geriatrics Center
in Ann Arbor.
Because dogs appeared to inherit the disorder through a
single mutation, Emmanuel Mignot and his colleagues at Stanford University Medical Center decided to sniff around
in canine DNA for the flawed
gene.
In the new study, the researchers sequenced the entire genome of mice that had undergone CRISPR gene editing in the team's previous study and looked for all mutations, including those that only altered a single nucleotid
In the new study, the researchers sequenced the entire genome of mice that had undergone CRISPR
gene editing
in the team's previous study and looked for all mutations, including those that only altered a single nucleotid
in the team's previous study and looked for all
mutations, including those that only altered a
single nucleotide.
In these and other inherited diseases, 10 to 15 percent of the single - base pair mutations that cause the disease create a misplaced, premature «stop» codon in the middle of the gene — causing the machinery of the cell to prematurely halt synthesis of the protein, which destroys its ability to functio
In these and other inherited diseases, 10 to 15 percent of the
single - base pair
mutations that cause the disease create a misplaced, premature «stop» codon
in the middle of the gene — causing the machinery of the cell to prematurely halt synthesis of the protein, which destroys its ability to functio
in the middle of the
gene — causing the machinery of the cell to prematurely halt synthesis of the protein, which destroys its ability to function.
Their preliminary analysis revealed several
mutations known as
single nucleotide polymorphisms (SNPs)
in the ALR
gene, many of which haven't been identified before.
The researchers determined that CRISPR had successfully corrected a
gene that causes blindness, but Kellie Schaefer, a PhD student
in the lab of Vinit Mahajan, MD, PhD, associate professor of ophthalmology at Stanford University, and co-author of the study, found that the genomes of two independent
gene therapy recipients had sustained more than 1,500
single - nucleotide
mutations and more than 100 larger deletions and insertions.
Almost immediately such familial genome sequencing proved its value, uncovering
mutations responsible for diseases caused by defects
in a
single gene.
Rare
mutations that shut down a
single gene are linked to lower cholesterol levels and a 50 percent reduction
in the risk of heart attack, according to new research from Washington University School of Medicine
in St. Louis, the Broad Institute at Massachusetts Institute of Technology and Harvard, and other institutions.
They created a
single - base
mutation in a spot that mutates readily, then inserted this
gene into each strand.
«When most people think about cancer genetics, they think about
single key
mutations that foster tumor formation — very specific things like the BRCA
genes,» said Joe R. Delaney, PhD, a fellow
in the Clinical Translation program at UC San Diego Moores Cancer Center and lead author of the paper published February 15
in Nature Communications.
A
mutation in the LRRK2
gene is the
single most common inherited cause of Parkinson's disease.
The two studies together suggest that
single copies of inactivating ANGPTL3
mutations are found
in roughly one of every 250 people of European descent, whereas people with
mutations in both copies of the
gene — as
in the family studied by Musunuru and colleagues — are much rarer.
The MGH investigators screened the genomes of 40 individuals with arhinia and 55 family members, from a total of 38 families, revealing rare
single - nucleotide
mutations within the SMCHD1
gene in 84 percent of affected individuals.
Other researchers had linked the ank
mutation to mouse chromosome 15;
in this week's Science, Kingsley's team reports that it's a
single typo
in a previously unknown
gene, which they called ank, that led to a protein about 10 % shorter than the normal version.
The team found that a
mutation in a
single pair of nucleotides
in the
gene causes seed coat permeability — that is, a change
in one pair out of the approximately 1 billion base pairs that make up the soybean genome.
In 1993, Brunner discovered a predisposition to violence in a single Dutch family carrying a mutation in the gene which makes monoamine oxidase A (MAOA), another enzyme vital for regulating neurotransmitter levels in the brai
In 1993, Brunner discovered a predisposition to violence
in a single Dutch family carrying a mutation in the gene which makes monoamine oxidase A (MAOA), another enzyme vital for regulating neurotransmitter levels in the brai
in a
single Dutch family carrying a
mutation in the gene which makes monoamine oxidase A (MAOA), another enzyme vital for regulating neurotransmitter levels in the brai
in the
gene which makes monoamine oxidase A (MAOA), another enzyme vital for regulating neurotransmitter levels
in the brai
in the brain.
Sickle cell disease is a recessive genetic disorder caused by a
single mutation in both copies of a
gene coding for beta - globin, a protein that forms part of the oxygen - carrying molecule hemoglobin.
That pattern of inheritance would suggest the strong effect of a
single gene mutation, and it would most likely crop up
in families that had a lot of shared
genes through the intermarriage of first cousins.
Huntingtin, the
single gene mutation responsible for the disease, was identified
in 1993.
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.