News tagged with genetic mutations
Related topics: mutations , genes , cancer cells , cancer , proceedings of the national academy of sciences
Study suggests patients with lung cancer who carry specific HER2 mutations may benefit from certain anti-HER2 treatments
New results from a retrospective study conducted in Europe suggest that anti-HER2 treatments, like the widely used breast cancer agent trastuzumab (Herceptin), have anti-cancer effects in a small subset of patients with advanced ...
Cancer
Apr 22, 2013 |
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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
Apr 22, 2013 |
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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
Apr 18, 2013 |
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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
Apr 18, 2013 |
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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
Apr 17, 2013 |
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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
Apr 17, 2013 |
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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
Apr 17, 2013 |
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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
Apr 15, 2013 |
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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
Apr 12, 2013 |
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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
Apr 11, 2013 |
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'Unknown' neurological disorder often incorrectly diagnosed
The very serious hereditary disease HDLS was discovered in 1984 in Sweden. Many HDLS patients are still incorrectly diagnosed with Alzheimer's disease, MS or Parkinson's disease, but researchers at the Sahlgrenska Academy, ...
Neuroscience
Apr 10, 2013 |
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Association between genetic mutation and risk of death for patients with thyroid cancer
Presence of the genetic mutation BRAF V600E was significantly associated with increased cancer-related death among patients with papillary thyroid cancer (PTC); however, because overall mortality in PTC is low and the association ...
Cancer
Apr 09, 2013 |
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International research finds heart disorder genetic variants in stillbirth cases
In a molecular genetic evaluation involving 91 cases of intrauterine fetal death, mutations associated with susceptibility to long QT syndrome (LQTS; a heart disorder that increases the risk for an irregular heartbeat and ...
Genetics
Apr 09, 2013 |
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Indo-Canadian student gives boost to cancer treatment (Update)
A Canadian high school student has improved an ineffective experimental cancer therapy with a simple tweak—pairing it with antibiotics—earning accolades Tuesday from a panel of eminent scientists.
Cancer
Apr 09, 2013 |
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Researchers identify gene variations that predict chemotherapy side effects
Seemingly benign differences in genetic code from one person to the next could influence who develops side effects to chemotherapy, a Mayo Clinic study has found. The study identified gene variations that can predispose people ...
Cancer
Apr 09, 2013 |
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