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Related Concept Videos

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.
Human Genetics01:28

Human Genetics

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...
Attention-Deficit/Hyperactivity Disorder01:30

Attention-Deficit/Hyperactivity Disorder

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.
Genetic Lingo01:11

Genetic Lingo

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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

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...
Pleiotropy01:33

Pleiotropy

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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Related Experiment Video

Updated: Jun 13, 2026

Paradigms for Behavioral Assessment in Drosophila Model of Autism Spectrum Disorder
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Paradigms for Behavioral Assessment in Drosophila Model of Autism Spectrum Disorder

Published on: September 6, 2024

The ASD Risk Gene D5Ertd579e Regulates Synaptic Plasticity and Selective Autism-Related Behaviors.

Isidora Stankovic1, Pablo Lituma1, Eva Onur1

  • 1Center for Neurogenetics, Feil Family Brain and Mind Research Institute, Weill Cornell Medical College, Cornell University, New York City, New York, 10021, USA.

Biorxiv : the Preprint Server for Biology
|June 12, 2026
PubMed
Summary

Investigating the uncharacterized gene D5Ertd579e in mice revealed specific social and vocalization deficits. This gene

Keywords:
Autism spectrum disorderD5Ertd579eKIAA0232NeurodevelopmentSynaptic plasticity

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Strategies for Assessing Autistic-Like Behaviors in Mice

Published on: September 20, 2024

Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a poorly understood genetic basis.
  • Hundreds of genes contribute to ASD, but many remain uncharacterized, potentially holding key insights into social phenotype development.

Purpose of the Study:

  • To investigate the function of the uncharacterized gene KIAA0232 (mouse orthologue D5Ertd579e) in neurodevelopment and behavior.
  • To determine if disruption of D5Ertd579e contributes to autism spectrum disorder-related phenotypes.

Main Methods:

  • Generated a global null knockout mouse model for the D5Ertd579e gene.
  • Assessed cortical progenitor dynamics, laminar organization, and gross brain morphology.
  • Evaluated behavioral phenotypes including vocalization, sociability, novelty preference, anxiety, and memory.
  • Examined long-term plasticity and basal synaptic transmission.

Main Results:

  • Loss of D5Ertd579e did not affect cortical development or gross brain morphology.
  • D5Ertd579e null mutants displayed selective deficits in vocalization, sociability, and novelty preference.
  • Anxiety and memory-related behaviors were preserved in D5Ertd579e null mutants.
  • Attenuated long-term plasticity was observed, despite normal basal synaptic transmission.

Conclusions:

  • D5Ertd579e plays a regionally specific role in neurodevelopment, particularly in social and motivational processing.
  • Disruption of D5Ertd579e may contribute to ASD through distinct genetic pathways.
  • Interrogating uncharacterized genes like D5Ertd579e is crucial for understanding the social brain in ASD.