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New study uncovers how altered gene expressio

<p><strong>The loss-of-function mutation of <em>KMT2C</em>, a gene involved in histone modification, leads to the development of autism and other neurodevelopmental deficits. However, the precise mechanism of the disease progression is still unknown. Now, researchers from Japan have developed an animal model and elucidated the mechanism by which mutation in genes involved in chromatin modification causes autism. They have also discovered a drug that can be used in the tre...
Japan General Shigehiro Kuraku Tadafumi Kato Kurara Honda Takumi Nakamura Atsushi Takata

Patchwork of mutations contributing to bipola

Bipolar disorder (BD) is a serious psychiatric disorder affecting around 1% of the population worldwide. While medications are indispensable for these patients, they are not completely effective, and the underlying genetic architecture and pathogenesis of BD remain unresolved. Researchers from Japan have now used deep exome sequencing to show that mosaic variants/mutations found in genes related to developmental disorders and autism spectrum disease and in the mitochondrial tRNA region could be ...
Japan General Jun Takayama Tadafumi Kato Gen Tamiya Mizuho Ishiwata Atsushi Takata

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