News tagged with gene mutation
Related topics: genes , breast cancer , mutations , ovarian cancer , cancer cells
Cell loss in the brain relates to variations in individual symptoms in Huntington's disease
Scientists have wrestled to understand why Huntington's disease, which is caused by a single gene mutation, can produce such variable symptoms. An authoritative review by a group of leading experts summarizes the progress ...
Neuroscience
Jan 07, 2013 |
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Researchers solve mystery surrounding the death of two sisters nearly 50 years ago
Researchers at Mount Sinai School of Medicine have identified the genetic cause of a rare and fatal bone disease by studying frozen skin cells that were taken from a child with the condition almost fifty years ago. Their ...
Genetics
Aug 29, 2012 |
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New autoinflammatory disease linked to NOD2 mutations ID'd
(HealthDay)—A new autoinflammatory disease characterized by features including inflammatory polyarthritis/polyarthralgia and dermatitis, and involving mutations in the nucleotide-binding oligomerization ...
Inflammatory disorders
Nov 02, 2012 |
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Research advances understanding of autism
(Medical Xpress)—Research by scientists from the Centre for Brain Research at the University of Auckland has uncovered new information about the mechanisms underlying autism spectrum disorders (ASDs), to be published in ...
Autism spectrum disorders
Nov 07, 2012 |
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BRCA1 or BRCA2 mutation research may offer treatment option to certain patients
(Medical Xpress)—Ongoing research at the Methodist Cancer Center could reveal whether metastatic breast cancer patients with BRCA gene mutations are particularly responsive to a drug regimen that includes Veliparib, an ...
Cancer
Sep 20, 2012 |
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New test predicted presence of harmful BRCA mutations
A new multiple gene expression profile test was able to predict the presence of harmful BRCA1 or BRCA2 mutations in otherwise healthy women carrying the mutations, according to data published in Cancer Prevention Research, a jour ...
Cancer
Jan 22, 2013 |
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Study reveals Rx target for HPV, Hep C and related cancers
New discoveries by a team of scientists at LSU Health Sciences Center New Orleans for the first time reveal the inner workings of a master regulator that controls functions as diverse as the ability of nerve cells to "rewire" ...
Medical research
Apr 10, 2013 |
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Calcium-binding protein mutations found in heart rhythm disorders
A team led by Vanderbilt University investigators has discovered two new genes – both coding for the signaling protein calmodulin – associated with severe early-onset disorders of heart rhythm. The findings, reported ...
Cardiology
Feb 06, 2013 |
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Cause of heart arrhythmia discovered using X-rays at CLS
Using powerful X-rays at the Canadian Light Source synchrotron, scientists have reconstructed the scenario of heart arrhythmia in action, making critical progress towards preventing deadly conditions and saving lives.
Medical research
Feb 22, 2013 |
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Discovery of new class of damage-prone DNA regions could lead to better cancer treatments
Cancer is thought to arise from DNA damage at fragile sites in the genome. A study published by Cell Press on January 24th in the journal Cell reveals a new class of fragile sites that contributes to DNA ...
Cancer
Jan 24, 2013 |
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Agent reduces autism-like behaviors in mice
National Institutes of Health researchers have reversed behaviors in mice resembling two of the three core symptoms of autism spectrum disorders (ASD). An experimental compound, called GRN-529, increased social ...
Autism spectrum disorders
Apr 25, 2012 |
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Zebrafish reveals central regulator for development of brain histamine system
Research has shown that mutations in the psen1 gene are common in the familial forms of Alzheimer's disease, and the Presenilin-1 protein that the gene encodes is known to be involved in the cleavage of the amyloid precursor ...
Neuroscience
Feb 05, 2013 |
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Genomic screening to detect preventable rare diseases in healthy people
Experts from the UNC School of Medicine and the UNC Gillings School of Global Public Health propose that screening healthy adults for preventable diseases such as colorectal cancer, breast cancer, and several catastrophic ...
Genetics
Mar 06, 2013 |
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New medication shows promise as lipid-lowering therapy for rare cholesterol disorder
An international effort led by researchers at the Perelman School of Medicine at the University of Pennsylvania has resulted in positive phase 3 clinical trial results for a new medicine to treat patients suffering from a ...
Medical research
Nov 02, 2012 |
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Finnish researchers identify the cause for LGL leukemia
Researchers of the University of Helsinki, Helsinki University Central Hospital and Institute for Molecular Medicine Finland, have discovered that a mutation in the STAT3 gene is an underlying cause for LGL leukemia. Since ...
Cancer
May 16, 2012 |
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