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News tagged with fmr1 gene

Study links Fragile X Syndrome proteins and RNA editing mistakes at nerve-muscle junction

The most common form of heritable cognitive impairment is Fragile X Syndrome, caused by mutation or malfunction of the FMR1 gene. Loss of FMR1 function is also the most common genetic cause of autism. Understanding ...

Medicine & Health / Neuroscience

created Oct 30, 2011 | popularity 5 / 5 (1) | comments 0 | with audio podcast

Predicting IVF success with genetic testing

A researcher at Albert Einstein College of Medicine of Yeshiva University has helped to develop the first genetic blood test for predicting the chances that in vitro fertilization (IVF) will lead to a successful pregnancy. ...

Medicine & Health / Research

created Jan 12, 2011 | popularity not rated yet | comments 0 | with audio podcast

Researchers uncover Fragile X syndrome gene's role in shaping brain

Researchers at UT Southwestern Medical Center have discovered how the genetic mutation that causes Fragile X syndrome, the most common form of inherited mental retardation, interferes with the "pruning" of nerve connections ...

Medicine & Health / Neuroscience

created May 07, 2010 | popularity 4.8 / 5 (6) | comments 1 | with audio podcast

Clinical tests begin on medication to correct Fragile X defect

NIH-supported scientists at Seaside Therapeutics in Cambridge, Mass., are beginning a clinical trial of a potential medication designed to correct a central neurochemical defect underlying Fragile X syndrome, the most common ...

Medicine & Health / Neuroscience

created Nov 02, 2009 | popularity 4.5 / 5 (2) | comments 0

Measuring intellectual disability

Researchers from the University of California, Davis have developed a specific and quantitative means of measuring levels of the fragile X mental retardation 1 (FMR1) protein (FMRP), which is mutated in fragile X syndrome. ...

Medicine & Health / Research

created Jun 24, 2009 | popularity not rated yet | comments 0

Promising new drug being evaluated as possible treatment option for fragile X syndrome

A pilot trial of an oral drug therapy called fenobam has shown promising initial results and could be a potential new treatment option for adult patients with Fragile X syndrome (FXS). Findings of the open label, single-dose ...

Medicine & Health / Diseases

created Jan 07, 2009 | popularity 5 / 5 (3) | comments 0