Mutation News and Research

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Genetic evidence to support an inherited tendency to retain salt

Researchers at the University of Chicago have found genetic evidence to support the sodium-retention hypothesis, a controversial 30-year-old theory that the high rate of hypertension in certain ethnic groups is caused, in part, by an inherited tendency to retain salt.

29 Oct 2004

Trojan horse technique offers potential new therapeutic approach to Alzheimer's disease

A potential new therapeutic approach to Alzheimer's disease protects brain cells in culture by drastically reducing the neurotoxic amyloid protein aggregates that are critical to the development of the disease.

29 Oct 2004

New insight into the role of the breast cancer gene known as BRCA2

Researchers at the Medical Research Council (MRC) Cancer Cell Unit, Cambridge have gained an important new insight into the role of the breast cancer gene known as BRCA2.

29 Oct 2004

New molecular tool to pinpoint DNA mutations among thousands of cells

Scientists have designed a new molecular tool, dubbed "LigAmp," to pinpoint DNA mutations among thousands of cells, the equivalent of searching for a single typo in an entire library of books.

28 Oct 2004

Genetic double-agents unmasked

Babraham Institute and Cancer Research UK scientists have discovered that certain enzymes with a key activity in the immune system may be important in stem-cell development, but may also work against us by contributing to the occurrence of cancer.

26 Oct 2004

Scientists identify crucial elements necessary for repairing damaged DNA

A team of University of Sussex-led scientists has identified crucial elements necessary for repairing damaged DNA - the blueprint for all living cells.

25 Oct 2004

A single change in a person’s DNA can contribute to a range of life-shortening risk factors

A woman with hypertension, low magnesium levels, and a cooperative family allowed scientists to pinpoint the mutation, which affects the genes of the mitochondria — the energy-producing power plants of the cell that are passed from mother to offspring.

25 Oct 2004

Key gene that impacts the timing of puberty

Researchers at the OHSU Oregon National Primate Research Center (ONPRC) have identified a key gene that impacts the timing of puberty and can shorten the time span for reproduction.

24 Oct 2004

Potential new protein marker for prognosis of breast and ovarian cancer

The researchers matched tumor samples to outcomes in about 100 patients diagnosed with either breast or ovarian cancer and found that a low level of Rab25 protein on a patient's cancer sample was associated with a better clinical outcome in both cancer types.

24 Oct 2004

Detecting diseases with no more to work with than a drop of blood

The dream of monitoring a patient's physical condition through blood testing has long been realized. But how about detecting diseases in their very early stages, or evaluating how they are responding to treatment, with no more to work with than a drop of blood!

22 Oct 2004

Discovery of new protein involved in regulating the second most commonly mutated tumor suppressor in human tumors

Scientists in Tokyo have discovered a new protein, named PICT-1, that is involved in regulating PTEN, the second most commonly mutated tumor suppressor in human tumors.

22 Oct 2004

Gene mutation causes Parkinson's disease in some families

An international research team, led by scientists at the National Institute on Aging (NIA), has discovered a gene, which when mutated, causes Parkinson's disease in some families.

22 Oct 2004

Discovery of the gene for a form of Joubert Syndrome

Researchers at the University of California, San Diego (UCSD) School of Medicine have discovered the gene for a form of Joubert Syndrome, a condition present before birth that affects an area of the brain controlling balance and coordination in about 1 in 10,000 individuals.

21 Oct 2004

Mutation News and Research

Genetic evidence to support an inherited tendency to retain salt

Trojan horse technique offers potential new therapeutic approach to Alzheimer's disease

New insight into the role of the breast cancer gene known as BRCA2

New molecular tool to pinpoint DNA mutations among thousands of cells

Genetic double-agents unmasked

Scientists identify crucial elements necessary for repairing damaged DNA

A single change in a person’s DNA can contribute to a range of life-shortening risk factors

Key gene that impacts the timing of puberty

Potential new protein marker for prognosis of breast and ovarian cancer

Detecting diseases with no more to work with than a drop of blood

Discovery of new protein involved in regulating the second most commonly mutated tumor suppressor in human tumors

Gene mutation causes Parkinson's disease in some families

Discovery of the gene for a form of Joubert Syndrome

Researchers trim count of human genes to 20,000-25,000

Genetic research offers insight into Sjögren's syndrome and the general developmental machinery of the immune system

Researchers have uncovered a specific signaling mechanism that contributes to the development of colorectal cancer

Children of older fathers are more likely to develop schizophrenia in later life

Brain protein called MC4R that plays a role in the urge to eat has now been found to influence appetite in a second way

Scientists have devised a novel way to repair one of the genetic mutations that causes ataxia-telangiectasia

Discovery of fundamental mechanism within cells that link obesity and type 2 diabetes

Improving healthcare sustainability through carbon data

A New Approach to Preventing Bladder Cancer Recurrence

Bringing real-time analytics to downstream bioprocess monitoring

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