News tagged with dna mutations
Mutations in 3 genes linked to autism spectrum disorders
Mutations in three new genes have been linked to autism, according to new studies including one with investigators at Mount Sinai School of Medicine. All three studies include lead investigators of the Autism Sequencing Consortium ...
Autism spectrum disorders
Apr 04, 2012 |
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Sequencing cancer mutations: there's an app for that
Using precise information about an individual's genetic makeup is becoming increasingly routine for developing tailored treatments for breast, lung, colon and other cancers. But techniques used to identify meaningful gene ...
Cancer
Apr 03, 2012 |
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DNA sequencing lays foundation for personalized cancer treatment
Scientists at Washington University School of Medicine in St. Louis are using powerful DNA sequencing technology not only to identify mutations at the root of a patient's tumor – considered key to personalizing cancer ...
Cancer
Apr 01, 2012 |
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A new breast cancer susceptibility gene
Mutations in a gene called XRCC2 cause increased breast cancer risk, according to a study published today in the American Journal of Human Genetics. The study looked at families that have a history of the disease but do not ...
Genetics
Mar 29, 2012 |
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A hidden architecture: Researchers use novel methods to uncover gene mutations for common diseases
Human geneticists have long debated whether the genetic risk of the most common medical conditions derive from many rare mutations, each conferring a high degree of risk in different people, or common differences throughout ...
Genetics
Mar 25, 2012 |
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Genetic mutation found in familial chronic diarrhea syndrome
When the intestines are not able to properly process our diet, a variety of disorders can develop, with chronic diarrhea as a common symptom. Chronic diarrhea can also be inherited, most commonly through conditions with genetic ...
Genetics
Mar 21, 2012 |
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Double whammy: RNAi enhances lung cancer therapy
Non-small cell lung cancer (NSCLC), the most common form of lung cancer, is usually treated with surgery and chemotherapy. However, a small group of patients can also be helped by treatment with tyrosine kinase inhibitors ...
Cancer
Mar 20, 2012 |
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Scientists map genetic evolution of leukemia
The diagnosis of myelodysplastic syndrome, a blood cancer, often causes confusion. While some patients can be treated with repeated blood transfusions, others require chemotherapy, leaving some uncertainty ...
Cancer
Mar 14, 2012 |
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Cancer epigenetics: Breakthrough in ID'ing target genes
Cancer is usually attributed to faulty genes, but growing evidence from the field of cancer epigenetics indicates a key role for the gene "silencing" proteins that stably turn genes off inside the cell nucleus. ...
Cancer
Mar 13, 2012 |
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Will a genetic mutation cause trouble? Ask Spliceman
In a brief paper in the journal Bioinformatics, Brown University researchers describe a new, freely available Web-based program called Spliceman for predicting whether genetic mutations are likely to disrupt the splicing of mes ...
Genetics
Mar 05, 2012 |
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Study finds new member of the breast-cancer gene network
The infamous BRCA genes do not act alone in causing cancer; there is a molecular syndicate at work preventing the way cells normally repair breaks in DNA that is at the root of breast cancer. But finding all ...
Cancer
Feb 22, 2012 |
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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
Feb 17, 2012 |
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When is a gene not a gene? New catalog helps identify gene variations associated with disease
A high-quality reference catalogue of the genetic changes that result in the deactivation of human genes has been developed by a team of researchers. This catalogue of loss-of-function (LoF) variants is needed ...
Genetics
Feb 16, 2012 |
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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
Feb 15, 2012 |
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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
Feb 08, 2012 |
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