MeSH tree: C16.320.322.500.937
Most mutations which cause disease by swapping one amino acid out for another do so by making the protein less stable, according to a massive study of human protein variants published in the journal Nature. Unstable proteins ...
Jan 8, 2025
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Researchers at Baylor College of Medicine, Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital and collaborating institutions have gained new insights into the molecular changes leading ...
Dec 16, 2024
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A new UC Davis MIND Institute study offers critical insights into Rett syndrome, a rare genetic condition that affects mostly girls. The research reveals how this condition affects males and females differently, with symptoms ...
Oct 18, 2024
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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 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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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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Rett syndrome is a rare neurodevelopmental disorder for which there is currently no cure or good therapy. It causes severe physical and cognitive symptoms, including many that overlap with autism spectrum disorder.
May 2, 2024
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Rett syndrome is a rare devastating neurological disorder that primarily affects young girls and manifests as an impaired ability to walk and talk, along with characteristic 'hand-wringing' movements, seizures, and cognitive ...
Oct 30, 2023
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A recent study from the lab of Dr. Jianrong Tang, associate professor at Baylor College of Medicine and principal investigator at the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital ...
Oct 13, 2023
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