相关实验视频

Updated: Jul 9, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.0K

分子和细胞环境影响SCN8A变体的功能

Carlos G Vanoye, Tatiana V Abramova, Jean-Marc DeKeyser

    bioRxiv : the preprint server for biology
    |November 28, 2023
    PubMed
    概括

    研究神经发育障碍中的SCN8A变体显示,替代拼接显著影响道功能. 了解这种背景对于准确的变种分类和疾病关联至关重要.

    更多相关视频

    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

    13.7K
    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

    9.8K

    相关概念视频

    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%...
    17.7K
    Chromatin Structure Regulates pre-mRNA Processing02:41

    Chromatin Structure Regulates pre-mRNA Processing

    In eukaryotic cells, nascent mRNA transcripts need to undergo many post-transcriptional modifications to reach the cell cytoplasm and translate into functional proteins. For a long time, transcription and pre-mRNA processing were considered two independent events that occur sequentially in the cell. However, it has now been well established that transcription and pre-mRNA processing are two simultaneous processes that are precisely regulated inside the cell.
    The chromatin structure, especially...
    7.0K
    Histone Variants at the Centromere02:30

    Histone Variants at the Centromere

    Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...
    4.3K
    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,...
    15.1K
    Position-effect Variegation02:32

    Position-effect Variegation

    In 1928, a German botanist Emil Heitz observed the moss nuclei with a DNA binding dye. He observed that while some chromatin regions decondense and spread out in the interphase nucleus, others do not. He termed them euchromatin and heterochromatin, respectively. He proposed that the heterochromatin regions reflect a functionally inactive state of the genome. It was later confirmed that heterochromatin is transcriptionally repressed, and euchromatin is transcriptionally active chromatin.
    6.3K
    Protein Complexes with Interchangeable Parts01:57

    Protein Complexes with Interchangeable Parts

    Groups of proteins may form a complex where each protein in this complex has a different role in the overall execution of the complex’s function. Often some of the proteins in the complex can be replaced by a closely related variant to give a complex that contains many of the same components yet is functionally distinct.
    The SCF ubiquitin ligase is a protein complex of five individual proteins. This complex attaches ubiquitin to other target proteins to mark them for degradation. In order...
    2.5K