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相关概念视频

Attention-Deficit/Hyperactivity Disorder01:30

Attention-Deficit/Hyperactivity Disorder

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Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by persistent inattention, hyperactivity, and impulsivity. It affects approximately 5-8% of children globally, with around 60-70% of cases persisting into adulthood. ADHD has significant implications for educational attainment, social interactions, and occupational success.
Diagnostic Criteria and Symptoms
To diagnose ADHD, symptoms must manifest before age 12 and be evident across multiple settings....
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Human Genetics01:28

Human Genetics

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

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Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
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Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

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Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
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Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

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Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
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相关实验视频

Updated: Feb 28, 2026

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
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Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

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多组织转录组广泛关联研究确定了29个与注意力缺陷/多动性障碍相关的风险基因.

Sarina Abrishamcar, Qile Dai, Jingjing Yang

    medRxiv : the preprint server for health sciences
    |February 27, 2026
    PubMed
    概括

    这项研究使用了全转录组关联研究 (TWAS) 来识别与注意力缺陷/多动症障碍 (ADHD) 相关的新基因. 这些发现为ADHD研究和药物发现提供了新的目标.

    科学领域:

    • 神经遗传学 神经遗传学
    • 精神疾病 精神疾病
    • 生物信息学是一种生物信息学.

    背景情况:

    • 注意缺陷/多动障碍 (ADHD) 是一种常见的,遗传的神经发育障碍,影响着数百万儿童.
    • ADHD的遗传基础在很大程度上仍然没有被描述.
    • 全转录组关联研究 (TWAS) 将基因表达数据与遗传关联数据相结合,以确定复杂特征的风险基因.

    研究的目的:

    • 为ADHD进行多组织TWAS,以更好地了解其遗传结构.
    • 为了确定特定的基因,其基因调节的表达与ADHD风险有关.
    • 发现ADHD的新型遗传风险因素和潜在的治疗点.

    主要方法:

    • 应用了OTTERS TWAS框架,使用来自MetaBrain的cis表达定量特征位置 (eQTL) 数据,跨越皮质,基底和小脑.
    • 综合基因表达数据与大型ADHD全基因组关联研究 (GWAS) 总结统计数据 (n=225,534).
    • 进行了精细映射,局部化和功能丰富分析,以优先考虑候选基因和途径.

    主要成果:

    • 在三个大脑组织中确定了29个重要的TWASADHD风险基因.
    • 发现了6个新的候选基因 (MPL,C1orf210,MDFIC,NKX2-2,FAM183A,HIGD1A),以前没有与ADHD有关.

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  • 在皮质和基底中发现了神经发育通路的丰富,以及一个重要的蛋白质-蛋白质相互作用网络.
  • 结论:

    • 这种多组织的TWAS通过涉及特定的基因,成功地改进了ADHD的遗传结构.
    • 鉴定新的ADHD相关基因为翻译研究和药物开发提供了新的途径.
    • 这些发现有助于更深入地了解ADHD和相关的神经发育状况的遗传基础.