News tagged with dna mutations


Genes and their regulatory 'tags' conspire to promote rheumatoid arthritis, study finds

In one of the first genome-wide studies to hunt for both genes and their regulatory "tags" in patients suffering from a common disease, researchers have found a clear role for the tags in mediating genetic ...

Genetics created Jan 20, 2013 | popularity 4.6 / 5 (7) | comments 0 | with audio podcast

Scientists decode DNA to find breast tumor signatures that predict treatment response

Decoding the DNA of patients with advanced breast cancer has allowed scientists to identify distinct cancer "signatures" that could help predict which women are most likely to benefit from estrogen-lowering ...

Genetics created Jun 10, 2012 | popularity 4.8 / 5 (4) | comments 0 | with audio podcast

Experts urge caution over use of new genetic sequencing techniques

The use of genome-wide analysis (GWA), where the entirety of an individual's DNA is examined to look for the genomic mutations or variants which can cause health problems is a massively useful technology for diagnosing disease. ...

Genetics created May 16, 2013 | popularity not rated yet | comments 0

What is BRCA1?

Actress Angelina Jolie has today written an op-ed in the New York Times explaining that she has opted to have a double mastectomy because she carries the hereditary BRCA1 gene, which she says increases her risk o ...

Cancer created May 15, 2013 | popularity 5 / 5 (1) | comments 2

Geneticists find causes for severe childhood epilepsies

(Medical Xpress)—Using a state-of-the-art DNA sequencing technique, UA researchers have discovered genetic mutations underlying seizure disorders in previously undiagnosed children.

Neuroscience created May 07, 2013 | popularity 5 / 5 (1) | comments 0 | with audio podcast

Nutrition tied to improved sperm DNA quality in older men

A new study led by scientists from the Lawrence Berkeley National Laboratory (Berkeley Lab) found that a healthy intake of micronutrients is strongly associated with improved sperm DNA quality in older men. In younger men, ...

Health created Aug 27, 2012 | popularity 5 / 5 (3) | comments 1 | with audio podcast

Wip1 could be new target for cancer treatment

Researchers have uncovered mutations in the phosphatase Wip1 that enable cancer cells to foil the tumor suppressor p53, according to a study in The Journal of Cell Biology. The results could provide a new ...

Cancer created May 06, 2013 | popularity not rated yet | comments 0

PARP inhibitors may have clinical utility in HER2-positive breast cancers

Poly (ADP-Ribose) polymerase (PARP) inhibitors, shown to have clinical activity when used alone in women with familial breast and ovarian cancers linked to BRCA mutations, may be a novel treatment strategy in women with HER2-positive ...

Cancer created Sep 17, 2012 | popularity not rated yet | comments 0 | with audio podcast

How mitochondrial DNA defects cause inherited deafness

(Medical Xpress) -- Yale scientists have discovered the molecular pathway by which maternally inherited deafness appears to occur: Mitochondrial DNA mutations trigger a signaling cascade, resulting in programmed ...

Medical research created Feb 17, 2012 | popularity 5 / 5 (1) | comments 0 | with audio podcast

Using the body's own immune system in the fight against cancer

DNA sequences from tumor cells can be used to direct the immune system to attack cancer, according to scientists at Washington University School of Medicine in St. Louis.

Medical research created Feb 08, 2012 | popularity 3 / 5 (2) | comments 1 | with audio podcast

Genetic mutation implicated in 'broken' heart

For decades, researchers have sought a genetic explanation for idiopathic dilated cardiomyopathy (DCM), a weakening and enlargement of the heart that puts an estimated 1.6 million Americans at risk of heart failure each year. ...

Genetics created Feb 15, 2012 | popularity not rated yet | comments 0 | with audio podcast

New gene therapy methods accurately correct mutation in patient's stem cells

For the first time, scientists have cleanly corrected a human gene mutation in a patient's stem cells. The result, reported in Nature on Wednesday 12 October, brings the possibility of patient-specific therapies closer to bec ...

Genetics created Oct 12, 2011 | popularity 4.6 / 5 (10) | comments 0 | with audio podcast

Researchers discover enzyme behind breast cancer mutations

Researchers at the University of Minnesota have uncovered a human enzyme responsible for causing DNA mutations found in the majority of breast cancers. The discovery of this enzyme – called APOBEC3B – may change the way ...

Cancer created Feb 06, 2013 | popularity 4.5 / 5 (2) | comments 1 | with audio podcast

Ten years on, still much to be learned from human genome map

(HealthDay)—As scientists mark the 10th anniversary Sunday of the completion of the Human Genome Project, they will note how that watershed effort has led to the discovery of the genetic underpinnings of ...

Genetics created Apr 12, 2013 | popularity 4.5 / 5 (2) | comments 1 | with audio podcast

Sweeping genetic analysis of rare disease yields common mechanism of hypertension

Analyzing all the genes of dozens of people suffering from a rare form of hypertension, Yale University researchers have discovered a new mechanism that regulates the blood pressure of all humans.

Genetics created Jan 22, 2012 | popularity 4 / 5 (1) | comments 0 | with audio podcast