Related Experiment Video

Updated: Jan 13, 2026

Author Spotlight: Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans
10:23

Author Spotlight: Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans

Published on: September 8, 2023

3.6K

rs2033806 at PAX3 Gene Associated with Non-syndromic Oral Cleft among the Chinese Population

Yue You, Cheng Wei Yang, Si Di Zhang

    The Chinese Journal of Dental Research
    |January 7, 2026
    PubMed
    Abstract

    Keywords:
    PAX3non-syndromic cleft lip onlynon-syndromic orofacial cleft lip with cleft palatesingular nucleotide polymorphism

    More Related Videos

    Quantification of Orofacial Phenotypes in Xenopus09:26

    Quantification of Orofacial Phenotypes in Xenopus

    Published on: November 6, 2014

    10.2K
    Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information09:37

    Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

    Published on: August 15, 2019

    10.3K

    Related Concept Videos

    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,...
    43.2K
    Single Nucleotide Polymorphisms-SNPs01:05

    Single Nucleotide Polymorphisms-SNPs

    A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
    17.9K
    Comparing Copy Number Variations and SNPs02:26

    Comparing Copy Number Variations and SNPs

    Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
    Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
    18.6K
    Exon Recombination02:32

    Exon Recombination

    The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
    Exon shuffling follows “splice frame rules.” Each exon...
    4.1K
    Cis-regulatory Sequences02:02

    Cis-regulatory Sequences

    Cis-regulatory sequences are short fragments of non-coding DNA that are present on the same chromosomes as the genes that they regulate. These fragments serve as binding sites for transcriptional regulators, proteins that are responsible for controlling gene transcription and differential gene expression across cell types in eukaryotes. Cis-regulatory sequences can be close to the gene of interest or thousands of bases away in the DNA sequence; however, those sequences that are further away are...
    11.6K
    Genome-wide Association Studies-GWAS01:11

    Genome-wide Association Studies-GWAS

    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...
    15.3K