Related Experiment Video

Updated: Jun 30, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.6K

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

Maimuna S Paul, Sydney L Michener, Hongling Pan

    American Journal of Human Genetics
    |March 20, 2024
    PubMed
    Abstract

    No abstract available in PubMed .

    More Related Videos

    In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila00:06

    In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

    Published on: August 20, 2019

    13.6K
    Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells NPCs10:47

    Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells NPCs

    Published on: March 2, 2018

    10.0K

    Related Concept Videos

    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...
    50
    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,...
    40.4K
    Genomic Imprinting and Inheritance02:30

    Genomic Imprinting and Inheritance

    Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
    The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
    34.4K
    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.
    89
    Alternative RNA Splicing02:18

    Alternative RNA Splicing

    Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
    There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
    21.1K
    piRNA - Piwi-interacting RNAs02:57

    piRNA - Piwi-interacting RNAs

    PIWI-interacting RNAs, or piRNAs, are the most abundant short non-coding RNAs. More than 20,000 genes have been found in humans that code for piRNAs while only 2000 genes have been found for miRNAs. piRNAs can act at the transcriptional and post-transcriptional levels and have a vital role in silencing transposable elements present in germ cells. They are also involved in epigenetic silencing and activation. Previously, they were thought to function only in germ cells but new evidence suggests...
    6.9K