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News tagged with mutations

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Increased stability of a misfolded protein linked to age of onset of common form of motor neuron disease

Neurodegenerative diseases are characterized by the aggregation of misfolded proteins, which accumulate to form insoluble clumps within or around nerve cells. In the adult motor neuron disease amyotrophic ...

Medical research created Apr 22, 2013 | popularity 5 / 5 (1) | comments 0

Clinical trials helped one woman's fight against cancer

(HealthDay)—Monica Barlow, a 35-year-old from Maryland, was training for a half-marathon when she noticed she couldn't shake a bad cough and ongoing fatigue. After a couple of rounds of antibiotics from ...

Cancer created Apr 18, 2013 | popularity not rated yet | comments 0

Science surprise: Toxic protein made in unusual way may explain brain disorder

A bizarre twist on the usual way proteins are made may explain mysterious symptoms in the grandparents of some children with mental disabilities.

Neuroscience created Apr 18, 2013 | popularity 5 / 5 (1) | comments 0 | with audio podcast

Bursts of brain activity may protect against Alzheimer's disease

Evidence indicates that the accumulation of amyloid-beta proteins, which form the plaques found in the brains of Alzheimer's patients, is critical for the development of Alzheimer's disease, which impacts 5.4 million Americans. ...

Alzheimer's disease & dementia created Apr 18, 2013 | popularity 4.7 / 5 (3) | comments 1 | with audio podcast

New drug combination therapy developed to treat leukemia

A new, pre-clinical study by researchers at Virginia Commonwealth University Massey Cancer Center suggests that a novel drug combination could lead to profound leukemia cell death by disrupting the function of two major pro-survival ...

Cancer created Apr 17, 2013 | popularity 5 / 5 (1) | comments 0

Examining function of all genes in the zebrafish genome to benefit human health

Equipped with the zebrafish genome, researchers have designed a method to assay the function of each and every gene and to explore the effects genetic variation has on zebrafish. So far the team has generated one or more ...

Genetics created Apr 17, 2013 | popularity 5 / 5 (1) | comments 0 | with audio podcast

Discovery of genetic defect that triggers epilepsy

Researchers at the University Department of Neurology at the MedUni Vienna have identified a gene behind an epilepsy syndrome, which could also play an important role in other idiopathic (genetically caused) ...

Neuroscience created Apr 17, 2013 | popularity 4 / 5 (1) | comments 1

New kidney cancer subtypes discovered

Researchers with the Institute of Urologic Oncology and the Department of Urology at UCLA have classified kidney cancer into several unique subtypes, a finding that will help physicians tailor treatment to ...

Cancer created Apr 16, 2013 | popularity 5 / 5 (1) | comments 0 | with audio podcast

Haiti cholera mutations could lead to more severe disease: Strain is evolving to be more like virulent 1800s cholera

The cholera strain that transferred to Haiti in 2010 has multiple toxin gene mutations that may account for the severity of disease and is evolving to be more like an 1800s version of cholera, reports a new Northwestern Medicine ...

Diseases, Conditions, Syndromes created Apr 16, 2013 | popularity 4 / 5 (1) | comments 0 | with audio podcast

Researchers untangle molecular pathology of giant axonal neuropathy

Giant axonal neuropathy (GAN) is a rare genetic disorder that causes central and peripheral nervous system dysfunction. GAN is known to be caused by mutations in the gigaxonin gene and is characterized by tangling and aggregation ...

Neuroscience created Apr 15, 2013 | popularity not rated yet | comments 0

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

Deciphering the cellular reading system of DNA methylation

(Medical Xpress)—Scientists from the FMI identify how a family of proteins reads the methylation marks on the DNA so critical for cell development. These MBD proteins bind directly to methylation marks ...

Genetics created Apr 12, 2013 | popularity 5 / 5 (2) | comments 0 | with audio podcast

Scientists discover gene mutation that causes children to be born without spleen

The spleen is rarely noticed, until it is missing. In children born without this organ, that doesn't happen until they become sick with life-threatening bacterial infections. An international team of researchers led by scientists ...

Genetics created Apr 11, 2013 | popularity 5 / 5 (1) | comments 0 | with audio podcast

Study finds new drug target for metastatic breast cancer

Research led by Dr. Suresh Alahari, Professor of Biochemistry and Molecular Biology at LSU Health Sciences Center New Orleans, is the first to report that two specific tumor suppressor genes work in concert to inhibit the ...

Cancer created Apr 11, 2013 | popularity 5 / 5 (1) | comments 0

Naturally occurring substance proves effective against deadly skin cancer in laboratory tests

For the first time, scientists have demonstrated the mechanism of action of gossypin, a naturally-occurring substance found in fruits and vegetables, as a treatment for melanoma, which causes the majority of deaths from skin ...

Cancer created Apr 10, 2013 | popularity 5 / 5 (1) | comments 0