The Department of Neurology at Niigata University has developed a new in silico method for evaluating the pathogenicity of missense variants using AlphaFold2 (MOVA).
Jun 14, 2023
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The research group led by Dr. Chengzhu Zhao (now Associate Professor in Chongqing Medical University) and Associate Professor Makoto Ikeya has discovered that ectopic bones formed in abnormal locations originate from neural ...
Jun 13, 2023
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A genetic mutation in the SPTSSA gene is identified as the cause of hereditary spastic paraplegia, a rare disease that causes progressive weakness, stiffness and spasticity in the lower extremities, according to a study published ...
Jan 31, 2023
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Scientists at the National Eye Institute (NEI) have developed a zebrafish model of NEDBEH—a rare genetic disorder that can cause coloboma, where parts of the eye are missing due to developmental defects. The model provides ...
Jan 12, 2023
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Researchers are finding more genes directly associated with cleft lip and palate.
Jan 11, 2023
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An international research team led by Dr. Ana Guadaño at the Alberto Sols Biomedical Research Institute (IIBM, a combined CSIC-UAM center) and involving the Complutense University of Madrid (UCM), used CRISPR gene editing ...
Dec 12, 2022
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A rare but potentially debilitating brain disorder finally has a definitive cause, thanks to research teams working on opposite sides of the globe.
Sep 15, 2022
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An unexplained case of severe coronary artery disease in a seemingly healthy young man led scientists at The Ohio State University Wexner Medical Center and College of Medicine to a discovery that could lead to a new way ...
Aug 31, 2022
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Using a new imaging technique, researchers from the National Eye Institute have determined that retinal lesions from vitelliform macular dystrophy (VMD) vary by gene mutation. Addressing these differences may be key in designing ...
Jul 28, 2022
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Inhibitors of the protein EZH2 are effective against cancers with SMARCB1 mutations such as rhabdoid tumors in children. However, these drugs are subject to treatment resistance. Scientists at St. Jude Children's Research ...
May 9, 2022
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