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相关概念视频

Autism Spectrum Disorder01:19

Autism Spectrum Disorder

339
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
339
Human Genetics01:28

Human Genetics

730
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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Notch Signaling Pathway03:14

Notch Signaling Pathway

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The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...
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Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders01:27

Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders

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Schizophrenia is a neurodevelopmental disorder whose origins are rooted in complex genetic components. Despite our burgeoning understanding, the pathophysiology of this disorder remains incompletely deciphered.
Researchers have identified genetic factors that increase susceptibility to schizophrenia, underscoring the intricate interplay between genetics and environment in disease development. At the core of schizophrenia's pathophysiology is excessive dopaminergic neurotransmission within...
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Pleiotropy01:33

Pleiotropy

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Sex-linked Disorders01:43

Sex-linked Disorders

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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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相关实验视频

Updated: Sep 14, 2025

Testing Sensory and Multisensory Function in Children with Autism Spectrum Disorder
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患有SCN2A相关疾病的个体的发育和适应功能.

Beatrice Southby Goad1, Jill Rodda1,2, Meagan Allen1

  • 1Murdoch Children's Research Institute, Melbourne, Australia.

Neurology
|July 22, 2025
PubMed
概括

在SCN2A疾病中发育障碍是广泛的,影响了91%的个体. 表型子组为SCN2A相关疾病提供预后见解,并指导临床试验设计.

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Immunohistochemical Visualization of Hippocampal Neuron Activity After Spatial Learning in a Mouse Model of Neurodevelopmental Disorders
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相关实验视频

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科学领域:

  • 神经科学是一个神经科学.
  • 遗传学 是一个遗传学.
  • 发育生物学 发展生物学

背景情况:

  • 与SCN2A相关的疾病通常会导致发育障碍,但详细描述是有限的.
  • 了解发育轨迹和适应功能对于管理这些复杂的神经疾病至关重要.

研究的目的:

  • 确定SCN2A相关疾病的个体的发育轨迹和适应性功能结果.
  • 为了诊断和临床试验目的,在SCN2A疾病中确定不同的表型子组.

主要方法:

  • 来自国际SCN2A自然历史研究的100名个体的回顾性横截面研究.
  • 个人根据SCN2A内基因变异 (早期发病/晚期发病) 或2q24.3拷贝数变异 (CNVs) 进行分组.
  • 发育史,适应性功能 (VABS-3) 和行为被评估,使用家长/护理人员的报告和医疗记录.

主要成果:

  • 91%的人经历了发育迟缓或智力障碍;29%的人患有自闭症谱系障碍.
  • 在运动 (55%的步行) 和沟通技巧 (31%的口语>1-5个单词) 中观察到显著的延迟.
  • 表型子组 (早期发作,晚期发作,CNV) 显示出不同的适应性行为得分,较早发作与较差的运动功能相关.

结论:

  • 与SCN2A相关的疾病具有广泛的发育障碍和适应功能挑战.
  • 识别特定的表型子组提供了有价值的预后信息.
  • 这些发现对于为SCN2A疾病的有针对性的临床试验设计提供信息至关重要.