Mutation News and Research

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Mutation in alpha-synuclein gene causes increased vulnerability to pesticides, leading to Parkinson's

A team of researchers has brought new clarity to the picture of how gene-environmental interactions can kill nerve cells that make dopamine. Dopamine is the neurotransmitter that sends messages to the part of the brain that controls movement and coordination.

27 Nov 2013

Fluxion Biosciences reports first study results from early stage NSCLC patients

Fluxion Biosciences, Inc. announced the presentation of the first pilot study results aimed at isolating circulating tumor cells (CTCs) from early stage non-small cell lung cancer (NSCLC) patients obtained in collaboration with Dr. Max Diehn's lab at Stanford University. CTCs are cells that disseminate from primary tumors and contribute to the spread of the disease to other parts of the body.

From Fluxion Biosciences 27 Nov 2013

Researchers show how unusual properties of A3G protein help fight HIV infection

A collaborative team led by a Northeastern University professor may have altered the way we look at drug development for HIV by uncovering some unusual properties of a human protein called APOBEC3G.

27 Nov 2013

Protecting or boosting neurotrophins may slow progression of Huntington's disease

A drug that acts like a growth-promoting protein in the brain reduces degeneration and motor deficits associated with Huntington's disease in two mouse models of the disorder, according to a study appearing November 27 in the Journal of Neuroscience. The findings add to a growing body of evidence that protecting or boosting neurotrophins - the molecules that support the survival and function of nerve cells - may slow the progression of Huntington's disease and other neurodegenerative disorders.

27 Nov 2013

Freiburg scientists discover substance that suppresses unchecked cell division in leukemia cells

Scientists of the University of Freiburg and the Freiburg University Medical Center from the collaborative research center Medical Epigenetics (SFB 992) have discovered a new active substance that inhibits cell division in leukemia cells and could play an important role in the fight against cancer.

27 Nov 2013

Women who test negative for family-specific BRCA2 mutations may have four times risk for breast cancer

Women who are members of families with BRCA2 mutations but who test negative for the family-specific BRCA2 mutations are still at greater risk for developing breast cancer compared with women in the general population, according to a study published in Cancer Epidemiology, Biomarkers & Prevention, a journal of the American Association for Cancer Research.

27 Nov 2013

EU-funded project develops new type of vaccine to tackle HIV virus infection

AIDS research has attempted many strategies to tackle the HIV virus infection. Now, a new type of vaccine developed within an EU-funded project, called EuroNeut-41, is based on one of the envelope proteins of the HIV virus, called the gp41 protein. What makes it interesting it that it is directly responsible for the fusion of the HIV virus into human cells. By integrating the gp41 protein into the vaccine, researchers try to trigger the production of antibodies that would block the entrance of HIV into human cells

27 Nov 2013

High-fat food consumption during puberty may increase the risk of breast cancer

New findings show that eating a high-fat diet beginning at puberty speeds up the development of breast cancer and may actually increase the risk of cancer similar to a type often found in younger adult women.

26 Nov 2013

UK researchers identify a gene that regulates alcohol consumption

UK researchers have discovered a gene that regulates alcohol consumption and when faulty can cause excessive drinking. They have also identified the mechanism underlying this phenomenon.

26 Nov 2013

Asparagine found in meat, eggs and dairy products is important for normal brain development

Asparagine, found in foods such as meat, eggs, and dairy products, was until now considered non-essential because it is produced naturally by the body. Researchers at the University of Montreal and its affiliated CHU Sainte-Justine Hospital found that the amino acid is essential for normal brain development.

26 Nov 2013

Genetic variation linked to increased levels of triglycerides associated with heart disorders

Researchers at Weill Cornell Medical College have found that a genetic variation that is linked to increased levels of triglycerides -- fats in the blood associated with disorders such as heart disease, type 2 diabetes, obesity and stroke -- is far more common than previously believed and disproportionally affects people of African ancestry.

26 Nov 2013

Two separate studies yield key findings for prevention, diagnosis, treatment and cure for AML

26 Nov 2013

EMA grants accelerated assessment to Boehringer Ingelheim's Faldaprevir compound

The application for European marketing authorisation of faldaprevir, a potent second generation oral protease inhibitor, has been fully validated and granted accelerated assessment by the European Medicines Agency (EMA).

26 Nov 2013

Cleveland Clinic researchers elected as AAAS Fellows for excellent contributions to science

Cleveland Clinic researchers Richard A. Padgett, Ph.D., and Edward F. Plow, Ph.D., have been named Fellows of the American Association for the Advancement of Science (AAAS). This year's AAAS Fellows will be formally announced in the AAAS News & Notes section of the journal Science on Nov. 29, 2013.

26 Nov 2013

Chicken eggs can provide better understanding of human birth defects

Clemson University researchers found that chicken eggs can provide a better understanding of human birth defects. Susan Chapman, associate professor in Clemson's College of Agriculture, Forestry and Life Sciences, received a South Carolina IDeA Networks of Biomedical Research Excellence award that allowed researchers to identify two regions in the chicken genome that are associated with congenital deafness and spine deformities in humans.

26 Nov 2013

Researchers identify potential therapeutic target in treatment of certain AML

Acute myeloid leukemia (AML) is a group of heterogeneous diseases with considerable diversity in terms of genetic abnormalities. Mutations of CEBPA, a tumour suppressor, are found in about 10 per cent of human AML patients. In two separate studies on CEBPA mutations in AML subtypes, researchers successfully identified and validated a gene known as Sox4 as a potential therapeutic target and a class of anti-cancer drugs, histone deacetylase (HDAC) inhibitors, as potential candidates in the treatment of certain AML.

25 Nov 2013

CRISPR-Cas-system: A promising tool for genetic engineering

Viruses cannot only cause illnesses in humans, they also infect bacteria. Those protect themselves with a kind of 'immune system' which - simply put - consists of specific sequences in the genetic material of the bacteria and a suitable enzyme. It detects foreign DNA, which may originate from a virus, cuts it up and thus makes the invaders harmless.

25 Nov 2013

Researchers discover how type 2 diabetes drug metformin actually works

Researchers from St. Vincent's Institute of Medical Research in Melbourne, Australia, in collaboration with researchers at McMaster University in Canada, are reportedly the first to discover how the type 2 diabetes drug metformin actually works, providing a molecular understanding that could lead to the development of more effective therapies. Mass spectrometry technologies from AB SCIEX, a global leader in analytical technologies, played a critical role in the analysis that led to this breakthrough finding.

25 Nov 2013

Researchers identify two gene mutations associated with increased risk of eating disorders

Eating disorders are disturbing and often-heartbreaking ailments that are relatively common, mostly among younger women.

25 Nov 2013

Scientists use RNAi technology to reveal genes responsible for treating Parkinson's disease

Scientists at the National Institutes of Health have used RNA interference (RNAi) technology to reveal dozens of genes which may represent new therapeutic targets for treating Parkinson's disease. The findings also may be relevant to several diseases caused by damage to mitochondria, the biological power plants found in cells throughout the body.

24 Nov 2013

Mutation News and Research

Mutation in alpha-synuclein gene causes increased vulnerability to pesticides, leading to Parkinson's

Fluxion Biosciences reports first study results from early stage NSCLC patients

Researchers show how unusual properties of A3G protein help fight HIV infection

Protecting or boosting neurotrophins may slow progression of Huntington's disease

Freiburg scientists discover substance that suppresses unchecked cell division in leukemia cells

Women who test negative for family-specific BRCA2 mutations may have four times risk for breast cancer

EU-funded project develops new type of vaccine to tackle HIV virus infection

High-fat food consumption during puberty may increase the risk of breast cancer

UK researchers identify a gene that regulates alcohol consumption

Asparagine found in meat, eggs and dairy products is important for normal brain development

Genetic variation linked to increased levels of triglycerides associated with heart disorders

Two separate studies yield key findings for prevention, diagnosis, treatment and cure for AML

EMA grants accelerated assessment to Boehringer Ingelheim's Faldaprevir compound

Cleveland Clinic researchers elected as AAAS Fellows for excellent contributions to science

Chicken eggs can provide better understanding of human birth defects

Researchers identify potential therapeutic target in treatment of certain AML

CRISPR-Cas-system: A promising tool for genetic engineering

Researchers discover how type 2 diabetes drug metformin actually works

Researchers identify two gene mutations associated with increased risk of eating disorders

Scientists use RNAi technology to reveal genes responsible for treating Parkinson's disease

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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