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Whitehead Institute researchers have redefined the function of a gene whose mutation causes Rett syndrome, a neurodevelopmental autism spectrum disorder. This new research offers an improved understanding of the defects found in the neurons of Rett
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A tiny but unexpected change to a segment of RNA in a single-cell organism looks a lot like a mistake, but is instead a change to the genetic information that is essential to the organism's survival. Scientists have discovered this RNA "edit" in Try
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Using powerful genetic sequencing technology, a team of investigators, led by researchers at the Icahn School of Medicine at Mount Sinai, scanned the genome of hundreds of individuals, and discovered those diagnosed with autism spectrum disorder (AS
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Researchers can now identify DNA regions within non-coding DNA, the major part of the genome that is not translated into a protein, where mutations can cause diseases such as cancer. Their approach reveals many potential genetic variants within non-
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Hypertrophic cardiomyopathy (HCM), a disease in which cardiac muscle thickens, weakening the heart, can be prevented from developing for several months in mice by reducing production of a mutant protein, according to a new study by researchers at Ha
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Mitochondria are the power plants of cells, manufacturing chemical fuel so a cell can perform its many tasks. These cellular power plants also are well known for their role in ridding the body of old or damaged cells. Now, researchers at Washington
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Children born with developmental disorders called cohesinopathies can suffer severe consequences, including intellectual disabilities, limb shortening, craniofacial anomalies, and slowed growth. Researchers know which mutations underlie some cohesin
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Often deadly "triple-negative" breast cancers might be effectively treated in many cases with a drug that targets a previously unknown vulnerability in the tumors, according to a UC San Francisco researcher who described her discovery in a study pub
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