Complementary vertebrate Wac models exhibit phenotypes relevant to DeSanto-Shinawi Syndrome
· 2026-09-03 · 原文
Monogenic syndromes are associated with neurodevelopmental changes that result in cognitive impairments and neurobehavioral phenotypes, including autism and seizures. Limited studies and resources are available to make meaningful headway into the underlying molecular mechanisms that result in these symptoms. One such example is DeSanto-Shinawi Syndrome (DESSH), a rare disorder caused by pathogenic variants in the WAC gene. Individuals with DESSH syndrome exhibit a recognizable craniofacial gestalt, developmental delay/intellectual disability, neurobehavioral symptoms that include autism, ADHD, behavioral difficulties, and seizures. However, no thorough studies from a vertebrate model exist to understand how these changes occur. To overcome this, we developed both murine and zebrafish Wac/w
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1. 人话版
Monogenic syndromes are associated with neurodevelopmental changes that result in cognitive impairments and neurobehavioral phenotypes, including autism and seizures.
Limited studies and resources are available to make meaningful headway into the underlying molecular mechanisms that result in these symptoms.
2. 领域脉络
One such example is DeSanto-Shinawi Syndrome (DESSH), a rare disorder caused by pathogenic variants in the WAC gene.
3. 机制拆解
Individuals with DESSH syndrome exhibit a recognizable craniofacial gestalt, developmental delay/intellectual disability, neurobehavioral symptoms that include autism, ADHD, behavioral difficulties, and seizures.
4. 证据与数字
摘要未给出量化结果——留意原文的实验与数据。
5. 反例与边界
However, no thorough studies from a vertebrate model exist to understand how these changes occur.
6. 跨领域连接与意外收获
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7. 可复用方法
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8. 术语表
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