Neuroscientists at New York University have devised a method that has reduced several afflictions associated with Fragile X syndrome (FXS) in laboratory mice. Their findings, which are reported in the journal Neuron, offer ...
Sep 19, 2012
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(Medical Xpress)—Scientists have established a genetic mouse model for primary ovarian insufficiency (POI), a human condition in which women experience irregular menstrual cycles and reduced fertility, and early exposure ...
Aug 30, 2012
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Genetics researchers have identified a key gene that, when mutated, causes the rare multisystem disorder Cornelia deLange syndrome (CdLS). By revealing how mutations in the HDAC8 gene disrupt the biology of proteins that ...
Aug 12, 2012
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The first U.S. population prevalence study of mutations in the gene that causes fragile X syndrome, the most common inherited form of intellectual disability, suggests the mutation in the gene – and its associated health ...
Jun 14, 2012
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New research by scientists at the University of North Carolina School of Medicine may have pinpointed an underlying cause of the seizures that affect 90 percent of people with Angelman syndrome (AS), a neurodevelopmental ...
Jun 6, 2012
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A recently evolved pattern of gene activity in the language and decision-making centers of the human brain is missing in a disorder associated with autism and learning disabilities, a new study by Yale University researchers ...
May 10, 2012
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A team led by scientists at Cold Spring Harbor Laboratory (CSHL) publishes research today indicating a striking association between genes found disrupted in children with autism and genes that are targets of FMRP, the protein ...
Apr 25, 2012
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Results of a new study from the University of North Carolina at Chapel Hill may help pave the way to a treatment for a neurogenetic disorder often misdiagnosed as cerebral palsy or autism.
Dec 21, 2011
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(Medical Xpress) -- For over 15 years, genome research has focussed – largely unsuccessfully – on the quest for common genetic risk factors for widespread diseases and conditions, such as diabetes, high blood pressure, ...
Sep 21, 2011
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Researchers now have a much clearer understanding of how mutations in a single gene can produce the complex cognitive deficits characteristic of Fragile X Syndrome, the most common inherited form of intellectual disability. ...
Jul 21, 2011
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