mutation

Mutation

Gene mutation (104)
Mutation (650)

Synopsis: Domenii: Biotech: Biotech generale: Biology: Mutation: Mutation:

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characterized 8 percent of the more than 550 PKC mutations identified in human cancers. This led to the unexpected discovery that the majority of mutations actually reduced

or abolished PKC activity, and none were activating. The mutations impeded signal binding, prevented correct structuring of the enzyme,

or impaired catalytic activity. When the scientists corrected a loss-of-function PKC mutation in the genome of a colon cancer cell line

tumor growth in a mouse model was reduced, demonstrating that normal PKC activity inhibits cancer. One possible explanation, said the researchers,

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#Tracking subtle brain mutations systematically DNA sequences were thought once to be identical from cell to cell,

but it's increasingly understood that mutations can arise during brain development that affect only certain groups of brain cells.

A technique developed at Boston Children's Hospital allows these subtle mutation patterns to be traced

one of several kinds of so-called somatic mutations that can arise as the brain develops.

The technique picks up somatic mutations that affect just a fraction of the brain's cells, in a"mosaic"pattern.

"showing when during brain development the mutations arise and how they spread through brain tissue as the mutated cells grow,

replicate and migrate, carrying the mutation with them.""There is a lot of genetic diversity from one neuron to the other,

and this work gets at how somatic mutations are distributed in the brain, "says Christopher Walsh, MD, Phd, chief of Genetics and Genomics at Boston Children's and co-senior author on the paper."

"Some mutations may occur on one side of the brain and not the other. Some may be clumped,'affecting just one gyrus fold of the brain,

Somatic brain mutations, affecting just pockets of cells can be harmful, and have been suggested as a possible cause of neurodevelopmental disorders such as autism,

because they suggest that every normal brain may in fact be a mosaic patchwork of focal somatic mutations,

whether somatic mutations may be the cause.""Finally, says Evrony, the findings provide a proof-of-principle for a systematic way of studying how brain cells disperse

which detects somatic retrotransposon mutations in single-cell sequencing data. Mirroring these findings, study published by Walsh's lab in 2014 used single-neuron sequencing to detect copy number variants--another type of mutation affecting the number of copies of chromosomes or chromosome fragments.

The study found that these mutations can occur in both normal and neurologically diseased brains s

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#Brain imaging may help predict future behavior Noninvasive brain scans, such as functional magnetic resonance imaging, have led to basic science discoveries about the human brain,

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Robust mutation panels vastly improve monitoring since cancer cells are constantly deleting chromosomal DNA and liquid biopsies with only one or two mutations will allow cancer cell escape variants to go undetected,

he said. Since the entire genome was surveyed, the researchers were able to identify a non-coding region of the genome as a"hotspot,

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#UCSD Study Shows Why Protein Mutations Lead to Familial Form of Parkinson Disease Researchers at the San diego Supercomputer Center (SDSC) at the University of California, San diego, have shown for the first time why protein mutations

a set of mutations in asyn had been identified but what was unknown was the molecular mechanism by

which these mutations caused disease. s an unstructured protein, asyn is called sometimes hameleonbecause it has no stable configuration

Most of the mutations changed the shape of the protein in a way that increased binding of asyn to the membrane by this zone.

researchers could not say why these mutations caused Parkinson disease, said Tsigelny. he discovery of Zone 2 as the distinguishing feature of the membrane-penetrating configurations of asyn paves the road to possible prevention of such a binding.

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This shows the translational value of our device in managing nonmall-cell lung cancer with underlying mutations. r

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and they undertook genetic studies to explore the molecular makeup behind the different mutations that cause the disease.

The greatest contribution has been our characterisation of patients with aminopathies a subtype of DCM caused by mutations in the gene encoding for the nuclear envelope protein.

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Their findings could be used to predict the accumulation of MITOCHONDRIAL DNA mutations in maternal egg cells, as well as the transmission of these mutations to children.

These mutations cause more than 200 diseases and contribute to others such as diabetes, cancer, Parkinson disease,

and Alzheimer disease. The study found greater rates of the MITOCHONDRIAL DNA variants in children born to older mothers,

whether maternal age is important in the accumulation of MITOCHONDRIAL DNA (mtdna) mutations, both in the mother and in the child as a result of transmission.

Studying healthy individuals gave the researchers a baseline for future studies of disease-causing mutations.

they found more mutations in blood and cheek cells in the older mothers in the study.

But finding greater rates of mutations in children born to the older mothers did come as a surprise.

The researchers believe a similar mutation process is occurring both in the cells of the mothersbodies and in their germ lines.

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But the gene is prone to mutations and those mutations are linked to lots of cancersin fact

when researchers from the University of Iowa conducted a literature review they found that PTEN mutations show up in 40 percent of breast cancer cases up to 70 percent of prostate cancer cases and nearly half of all leukemia cases.

If you look at tumors across the boardâ and that doesn t mean just breast cancer or prostate cancerâ you find that PTEN is the most generally mutated gene.

While it s unknown how to prevent PTEN mutations Soll and colleagues became interested in finding out

Once a patient is diagnosed with cancer caused by a PTEN mutation the patient could take the drug over-express the PTEN bench player gene

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and avoid breeding dogs that harbor this mutation, thus gradually eliminating the disease from the Newfoundland breed,

which revealed that the mutation associated with SAS resides in a gene called PICALM. This same gene mutation has been associated with the formation of plaque-like lesions in the brains of people with Alzheimer disease,

The researchers also conducted a pedigree analysis in a family of 45 Newfoundland dogs to examine the inheritance pattern of the SAS mutation.

and that not all dogs carrying the mutation will develop the disease. SAS shows up in the dog heart as abnormal tissue growthften forming a ridge or ring below the aortic valve,

whether a dog carries the PICALM mutation are now available through North carolina State university College of Veterinary medicine

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When the panel shows these mutations, a total thyroidectomy is advised. Yip and her colleagues followed 671 patients with suspicious thyroid nodes who received biopsies.

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is that the mutation only affects its response to alcohol. The BK channel typically regulates many important functions

The alcohol-insensitive mutation does not disrupt these functions at all. e got pretty lucky and found a way to make the channel insensitive to alcohol without affecting its normal function,

which is based on a mutation discovered by lead author and graduate student Scott Davis, could be inserted into mice.

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Their blindness was caused by either mutations in the genes RPE65 or LRAT, leading to a serious defect in the retinoid cycle.

Patients with RPE65 or LRAT mutations cannot produce this crucial molecule thus the retinal cells cannot create vision,

and slowly die. y giving patients with RPE65 or LRAT mutations an oral retinoid intermediate (QLT091001) most patientsvision improved rapidly.

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researchers identified a mutation responsible for the development of cleft palate in the breed. Dogs with this mutation also have shortened a lower jaw

similar to humans who have Pierre Robin Sequence. The disorder, a subset of cleft palate, affects one in 8,

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The scientists were able to see this by peering into the brains of the mice with DISC1 mutations on the 35th and 60th day of their lives, the equivalent of adolescence and young adulthood.

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each one resulting from mutations in a different gene important in eye development and vision.

Inglehearn adds. his still doesn lead us straight to the mutations that cause the condition,

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#Melanoma in families linked to mutations in one gene The discovery that mutations in a specific gene are responsible for a hereditary form of melanoma could make it easier to detect and treat,

People with specific mutations in the POT1 gene, which protects the ends of our chromosomes from damage,

These mutations deactivate the POT1 gene. his finding significantly increases our understanding of why some families have a high incidence of melanoma,

The team set out to identify the hereditary mutations that account for the other 60 percent by sequencing part of the genome of 184 patients with hereditary melanoma caused by unknown mutations.

They found that the inactivation of POT1 caused by these mutations leads to longer and potentially unprotected telomeres

The team found that there were also cases of other cancer types in families with these hereditary mutations such as leukemia

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or#fancy#poultry breeders to identify at fine resolution the exact location of the mutation in the genome in blue egg laying chickens.

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#Yeast reveals secret of hitchhiker mutations It takes a group effort of genetic mutations to give organisms the best shot at evolutionary survival a new study suggests.

Evolution occurs when an individual experiences a spontaneous beneficial mutation in its genome that improves its ability to adapt to its environment.

The common view was that a single mutation could boost the survival of an individual

and pass on the mutation to its offspring. Instead researchers studying 1000 generations of adaptation in 40 yeast populations have found that rather than just one mutation causing enhanced survival about five to seven mutations are required.

These extra mutations are termed hitchhikers because they don t appear to contribute to the enhanced fitness of the organism Our study indicates that evolution is more of a group effort says Gregory Lang an associate research scholar in the laboratory of David Botstein at Princeton university s Lewis-Sigler Institute

for Integrative Genomics. Lang is first author on the paper which appears in the journal Nature.

Drivers and hitchhikers The finding goes against the traditional view of evolution being determined by individual mutations that provide a large fitness advantage by themselves says Michael Desai a former Princeton fellow who is currently at Harvard university.

We found that small groups which we call cohorts of mutations were associated with increased survival.

No single mutation is driving adaptation. The whole group which includes hitchhikers drives adaptation together.

The knowledge of how mutations drive evolution can inform our understanding of how tumors resist chemotherapeutics

Although the researchers refer to the groups of mutations as containing drivers and hitchhikers Desai says that additional research is being done to explore which mutations are necessary for adaptation and

which ones are along for the ride. He noted that the mutations are located not near each other nor do they appear to have similar functions.

The study helps expand our understanding of how evolution arises from a combination of genetic mutations

This systems biology approach yields insights that could help us understand how mutations spread through other evolving systems such as cancer cells

Previous evidence suggests that yeast may experience beneficial mutations that inactivate genes they no longer need.

if grown in conditions where the yeast can only reproduce asexually mutations that inactivate genes for proteins involved in sexual reproduction boost survival

whether the mutations identified in the new study confer specific survival advantages. The National Science Foundation Graduate Research Fellowship the National Institute of General Medical sciences Centers of Excellence the National institutes of health the James S. Mcdonnell Foundation the Alfred P. Sloan

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when they aren t. He grew some normal arabadopsis plants some in which a mutation disabled only one of the transcription factors and other ones in

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It actually looks like a Play station 4. The nuclear DNA from a patient egg carrying MITOCHONDRIAL DNA mutations is removed

The baby will be free of risk from maternal mitochondrial mutations, but yet the biological child of the parents.

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Genetic studies have shown that people with type 2 diabetes are more likely to have mutations in the gene that encodes a protein called insulin-degrading enzyme, or IDE.

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Some, like atopic dermatitis, remain poorly understood. he ability to obtain an unlimited number of genetically identical units can be used to study a range of conditions where the skin barrier is defective due to mutations in genes involved in skin barrier formation.

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The mutation is a short deletion in the CCR5 gene. The gene encodes a receptor that HIV uses to enter immune cells called CD4+T cells.

About 1%of the European population carries the CCR5 mutation in both copies of the CCR5 gene,

and H tter reasoned that one of those matches might also carry CCR5 mutations. Donor number 61 turned out to be the one,

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Once the specific cancer mutation is identified, clinicians will periodically draw additional bio-fluids to monitor the mutation levels to determine

whether a patient is responding to therapy. Whereas Magnetic resonance imaging (MRI) is a useful tool, tumors only show up on imaging scans once they are at least one millimeter in diameter

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and they can also acquire mutations during the reprogramming process, which means that every ips cell must be evaluated thoroughly before it can be used in any study."

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and identify mutations that might be causing the undiagnosed diseases that afflict his clients families.

Ingenuity Systems in Redwood City, California, allows users to upload a list of mutations in a person s genome,

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Studies at other institutions have identified mutations in the gene for Syngap associated with autism and intellectual disability.

To see how these mutations affect the protein function the Johns Hopkins research team altered their lab-grown cells

so that they had genes with one of three of these mutations. All three of the disability-associated mutations showed similar effects:

Compared to normal neurons, there was less Syngap in synapses when they were at rest, but activating Camkii did not noticeably change anything. his gives us a much clearer idea of how some Syngap mutations cause problems in the brain,

Huganir says. The findings may one day lead to drugs or other interventions that would lessen the effects of the mutations,

he says. Other authors on the paper are Menglong Zeng and Mingjie Zhang, both of Hong kong University of Science and Technology c

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The more of these mutations we identify the better we can deciphernd influencehe pathways that lead to disease.

TBK1 mutations appeared in about 1 percent of the ALS patients large proportion in the context of a complex disease with multiple genetic components, according to Dr. Goldstein.

and now we have shown that mutations in either gene are associated with ALS, said Dr. Goldstein. hus there seems to be no question that aberrations in the pathways that require TBK1

and mouse models with mutations in TBK1 or OPTN to study ALS disease mechanisms and to screen for drug candidates.

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when a small percentage of microbes escape an antibiotic because of a mutation and then those bacteria multiply.)

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Scientists have been hunting for years for mutations in crystallin proteins that might offer new insights

Her team came up with the eye drop idea after finding that children with a genetically inherited form of cataracts shared a mutation that stopped the production of lanosterol, an important steroid in the body.

When their parents did not have the same mutation, the adults produced lanosterol and had no cataracts.

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#Fast modeling of cancer mutations Sequencing the genomes of tumor cells has revealed thousands of genetic mutations linked with cancer.

However sifting through this deluge of information to figure out which of these mutations actually drive cancer growth has proven to be a tedious time-consuming process.

which require genetically engineering mice that carry the cancerous mutations. It s a very rapid and very adaptable approach to make models says Thales Papagiannakopoulos a postdoc at MIT s Koch Institute for Integrative Cancer Research

With a lot of these mutations we have no idea what their role is in tumor progression.

Scientists have begun recently exploiting this system to make targeted mutations in the genomes of living animals either deleting genes

This process is much faster than generating mice with mutations inserted at the embryonic stem cell stage

This method also offers new ways to seek personalized treatments for cancer patients depending on the types of mutations found in their tumors the researchers say.

This opens up a whole new field of being personalized able to do oncology where you can model human mutations

and start treating tumors based on these mutations Papagiannakopoulos says. The research was funded by the Howard hughes medical institute the Ludwig Center for Molecular Oncology at MIT and the National Cancer Institute u

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They also successfully targeted another antibiotic resistance gene encoding SHV-18 a mutation in the bacterial chromosome providing resistance to quinolone antibiotics and a virulence factor in enterohemorrhagic E coli.

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#A new way to model cancer Sequencing the genomes of tumor cells has revealed thousands of mutations associated with cancer.

One way to discover the role of these mutations is breed to a strain of mice that carry the genetic flaw

They have shown that a gene-editing system called CRISPR can introduce cancer-causing mutations into the livers of adult mice enabling scientists to screen these mutations much more quickly.

They are now working on ways to deliver the necessary CRISPR components to other organs allowing them to investigate mutations found in other types of cancer.

Previous studies have shown that genetically engineered mice with mutations in both of those genes will develop cancer within a few months.

which requires introducing mutations into embryonic stem cells can take more than a year and costs hundreds of thousands of dollars.

if additional mutations occur later on. To create this model the researchers had to cut out the normal version of the gene

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They also plan to expand their sample collection efforts dramatically especially among understudied populations such as those in African nations to reveal the many as-yet-undiscovered mutations relevant to disease.

which allows them to precisely introduce any mutations they choose. Develop chemicals to modulate biological pathways to serve as drug leads.

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and others that are caused by single mutations. Scientists have developed other gene-editing systems based on DNA-slicing enzymes also known as nucleases

Disease correctionfor this study the researchers designed three GUIDE RNA strands that target different DNA sequences near the mutation that causes type I tyrosinemia in a gene that codes for an enzyme called FAH.

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#Biologists ID new cancer weakness About half of all cancer patients have a mutation in a gene called p53

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Mutations in the gene for calcineurin have previously been found in some schizophrenia patients. Ten years ago MIT researchers led by Susumu Tonegawa the Picower Professor of Biology

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Mutations in the X chromosome cause a person to perceive more or less color which is why men more commonly have congenital colorblindness than women

(if their one X chromosome has a mutation). But the theory stood that if a woman received two mutated X chromosomes she could have four cones instead of the usual three.

I have a mutation Antico said. The more she helps scientists understand tetrachromacy she figures the better they will be able to help people like her daughter.

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the researchers unveil how one of a battery of chemical warfare agents used by the immune system to fight off infection can itself create DNA mutations that lead to cancer.

DNA sequencing of a developing gastrointestinal tumor revealed two types of mutation: cytosine (C) bases changing to thymine (T) bases,

the 5clc instead paired with an adenine base around 5 percent of the time a medically relevant mutation frequency, according to Essigmann.

and causes the same kind of mutations seen within cells, Fedeles says. hat gave us confidence that this phenomenon would in fact happen in human cells containing high levels of 5clc.

the C-to-T mutation characteristic of 5clc is extremely common, and is present in more than 50 percent of mutagenic ignatures,

or patterns of DNA mutations, associated with cancerous tumors. e believe that in the context of inflammation-induced damage of DNA,

many of these C-to-T mutations may be caused by 5clc, possibly in correlation with other types of mutations as part of these mutational signatures,

and it could give rise to significant frequencies of C-to-T mutation, a type of mutation that is frequently observed in human cancers,

Wang says. Studies of tissue samples of patients suffering from inflammatory bowel disease have found significant levels of 5clc,

the researchers predict that accumulation of the lesions would increase the mutation rate of a cell up to 30-fold,

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Mechanical tests on several mutations suggested that natural collagen could be optimized for stiffness and stability.

such as collagen mutations, is currently quite challenging, especially in the chemistry lab. Massively parallel simulation has opened new pathways for materials discovery,

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leaving lunt endsthat often undergo mutations as they are rejoined. With the Cpf1 complex the cuts in the two strands are offset, leaving short overhangs on the exposed ends.

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Improper repair of DNA lesions can lead to mutations, abnormal chromosome structures, or loss of genetic information that in turn can cause premature aging, cancer, and genetic abnormalities.

because they often carry mutations in DNA repair genes essential for the repair of these collisions.

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