MeSH tree: C16.320.322
Rett syndrome is a X-chromosome-linked neurodevelopmental disorder; it can lead to loss of coordination, mobility, ability to speak, and use of the hands, among other symptoms. The syndrome is typically caused by mutations ...
Sep 9, 2024
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One particular protein lies at the heart of brain development. A master regulator of gene expression, it's abundantly present in neurons, and its dysfunction underlies Rett syndrome, a neurological disorder that could lead ...
Aug 26, 2024
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A computational model built by researchers at the Institute of Research in Biomedicine (IRB Barcelona) and the Centre for Genomic Regulation (CRG) can predict which drugs will be most effective in treating diseases caused ...
Aug 22, 2024
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A pilot study using a new screening tool shows promise for assessing neurobehavioral difficulties in children with Duchenne muscular dystrophy (DMD) and improving quality of life for patients and their families. Results appear ...
Aug 14, 2024
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A genetic diagnostic method using a small sample of skin from the upper arm could identify rare neurodevelopmental disorders in a non-invasive way, according to researchers at the University of Adelaide.
Jul 31, 2024
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About 37 million people in the United States have chronic kidney disease and studies show that genetics may explain between 10% and 20% of cases in adults (and as many as 70% of cases in children).
Jul 29, 2024
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An experimental cancer drug could make thinking easier for individuals with Rett syndrome, a rare disorder linked to autism, according to new research from the University of California San Diego—a discovery that could lead ...
Jul 25, 2024
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Indiana University School of Medicine researchers have made a significant breakthrough in developing a new gene therapy approach that restores full-length dystrophin protein, which could lead to new treatments for people ...
Jul 25, 2024
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Recent research from the University of Houston College of Pharmacy identifies key mechanisms of skeletal muscle regeneration and growth of muscles following resistance exercise. It's a finding that opens the door to the development ...
Jul 22, 2024
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A recent large cohort study, conducted jointly by researchers from BGI Genomics and Nanjing Women and Children's Healthcare Hospital, implemented a self-developed prenatal screening strategy to effectively identify and classify ...
Jul 17, 2024
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