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Sex Linked Disorders01:43

Sex Linked Disorders

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.
Disorders of the Nervous Tissue01:28

Disorders of the Nervous Tissue

Nervous tissue is a vital component of the human body's communication system, enabling us to perceive and respond to stimuli. However, like all other tissues, it is vulnerable to disorders and diseases that can significantly impact our neurological functioning.
Homeostatic Imbalances:
Alzheimer's disease manifests as a gradual decline in memory and cognitive abilities, attributed to the buildup of amyloid plaques and neurofibrillary tangles in the brain.
Parkinson's disease arises from the...
Prosopagnosia01:24

Prosopagnosia

Prosopagnosia, also known as face blindness, is the inability to recognize faces. In severe cases, individuals with prosopagnosia may not recognize close family members, including parents and spouses, by their faces. For instance, someone with prosopagnosia might walk past their child in a crowd, only realizing their mistake upon noticing their child's distinctive backpack or favorite jacket. Prosopagnosia specifically impairs facial recognition, while the recognition of other objects or...
Language and Cognition01:27

Language and Cognition

Language serves as a bridge between ideas and communication, influencing how individuals perceive and interact with the world. Psychologists have long debated whether language shapes thought or vice versa. This discussion gained grip with Edward Sapir and Benjamin Lee Whorf in the 1940s, who proposed that language determines thought, a concept known as linguistic determinism. They suggested that the vocabulary and structure of a language influence how its speakers think and perceive reality.
Autism Spectrum Disorder01:19

Autism Spectrum Disorder

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.
Intellectual Disability01:29

Intellectual Disability

Intellectual disability (ID) is a neurodevelopmental condition characterized by deficits in intellectual and adaptive functioning that manifest during the developmental period. This condition encompasses challenges in reasoning, memory, problem-solving, and learning, accompanied by impairments in everyday life skills, such as communication, self-care, and social interactions. Intellectual disability affects approximately 1% of the population in the United States, impacting an estimated 5...

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相关实验视频

Updated: May 9, 2026

A Novel Experimental and Analytical Approach to the Multimodal Neural Decoding of Intent During Social Interaction in Freely-behaving Human Infants
11:14

A Novel Experimental and Analytical Approach to the Multimodal Neural Decoding of Intent During Social Interaction in Freely-behaving Human Infants

Published on: October 4, 2015

结合体复杂性和神经发育障碍

Hannah M Deutsch1, Yuanquan Song2, Dong Li3

  • 1Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Neuroscience Graduate Group, University of Pennsylvania, Philadelphia, PA, USA.

Current opinion in genetics & development
|May 16, 2025
PubMed
概括
此摘要是机器生成的。

适当的RNA剪接对于神经发育至关重要. 结合体功能的缺陷导致神经发育障碍 (NDD),影响基因表达和细胞功能,通常具有组织特异性影响.

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Comparing Eye-tracking Data of Children with High-functioning ASD, Comorbid ADHD, and of a Control Watching Social Videos
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Comparing Eye-tracking Data of Children with High-functioning ASD, Comorbid ADHD, and of a Control Watching Social Videos

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Multimodal Protocol for Assessing Metacognition and Self-Regulation in Adults with Learning Difficulties
12:55

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相关实验视频

Last Updated: May 9, 2026

A Novel Experimental and Analytical Approach to the Multimodal Neural Decoding of Intent During Social Interaction in Freely-behaving Human Infants
11:14

A Novel Experimental and Analytical Approach to the Multimodal Neural Decoding of Intent During Social Interaction in Freely-behaving Human Infants

Published on: October 4, 2015

Comparing Eye-tracking Data of Children with High-functioning ASD, Comorbid ADHD, and of a Control Watching Social Videos
05:32

Comparing Eye-tracking Data of Children with High-functioning ASD, Comorbid ADHD, and of a Control Watching Social Videos

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Multimodal Protocol for Assessing Metacognition and Self-Regulation in Adults with Learning Difficulties
12:55

Multimodal Protocol for Assessing Metacognition and Self-Regulation in Adults with Learning Difficulties

Published on: September 27, 2020

科学领域:

  • 分子生物学分子生物学
  • 遗传学 遗传学 是一个
  • 神经科学是一个神经科学.

背景情况:

  • 神经发育取决于精确的基因表达,由RNA剪接调节.
  • 结合体,一个由RNA和蛋白质组成的复合体,通过去除内子和连接外子来处理前mRNA.
  • 拼接体组件中的错误会导致错误拼接和拼接体病变,影响细胞功能.

研究的目的:

  • 讨论表现为神经发育障碍 (NDD) 的结合体病变.
  • 专注于对涉及NDDs的结合体组件进行编码的基因.
  • 为了突出结合体病变表现的组织特异性.

主要方法:

  • 关于结合体病变和NDD的文献综述.
  • 结合体编码基因中的遗传变异的分析.
  • 讨论拼接缺陷对神经发育过程的影响.

主要成果:

  • 拼接体基因中的致病变体会导致RNA错误拼接,导致NDD.
  • 结合体病变可以表现出组织特异性影响,并不总是呈现为NDD.
  • 这项研究强调了结合体功能在神经系统发育中的关键作用.

结论:

  • 通过spliceosome缺陷来调节RNA拼接的失调是NDD的一个重要原因.
  • 了解结合体病变是解读某些NDD的遗传基础的关键.
  • 向结合体功能可能为NDD提供治疗途径.