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Updated: May 7, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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对病原性KCNQ1变种的回归态度和阿米什人中连锁查的采用

Elizabeth A Streeten1, Yue Guan2, Kathleen A Ryan1

  • 1University of Maryland Department of Medicine and Program in Personalized and Genomic Medicine, Baltimore, MD.

Genetics in medicine open
|November 10, 2025
PubMed
概括

艾米什社区对长QT综合征遗传检测结果的回报得到了很好的欢迎,但β-阻断剂的使用率很低. 连锁测试的兴趣是温和的,但大多数参与者对风险亲属进行了基因变异测试.

关键词:
级联查是指一系列的查.KCNQ1 一个国家.长时间QT综合征旧秩序的阿米什人结果的返回结果的返回

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相关概念视频

Non-gated Ion Channels01:24

Non-gated Ion Channels

Ion channels are specialized proteins on the plasma membrane that allow charged ions to pass down their electrochemical gradient. Their main function is to maintain the membrane potential which is critical for cell viability. These channels are either gated or non-gated and can transport more than a thousand ions within milliseconds for the cellular event to occur.
Compared to the gated ion channels, the non-gated channels, also known as leakage or passive channels, have no gating mechanism.
Non-gated Ion Channels01:24

Non-gated Ion Channels

Ion channels are specialized proteins on the plasma membrane that allow charged ions to pass down their electrochemical gradient. Their main function is to maintain the membrane potential which is critical for cell viability. These channels are either gated or non-gated and can transport more than a thousand ions within milliseconds for the cellular event to occur.
Compared to the gated ion channels, the non-gated channels, also known as leakage or passive channels, have no gating mechanism.
Ligand-Gated Ion Channel Receptor: Gating Mechanism01:30

Ligand-Gated Ion Channel Receptor: Gating Mechanism

Ligand-gated ion channels are transmembrane proteins that play a vital role in intercellular communication and functions of the nervous system. They allow the influx of ions across the membrane once the neurotransmitter binds, allowing the subsequent transmission of electrical excitation across the neurons. Other ligand-gated ion channels, like the γ-aminobutyric acid (GABA) receptor, permit anions like chloride into the cells on the binding of the GABA molecule. Their entry into the cell...