相关实验视频

Updated: May 9, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

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

Published on: August 20, 2019

13.5K

失败的新陈代谢适应压力是异合性遗传疾病的病原体的基础

Robert Harmon, Erin McCarthy, Annette Krol

    bioRxiv : the preprint server for biology
    |May 5, 2025
    PubMed
    概括

    压力加剧了达利尔病 (DD) 的发病因子,因为它损害了SERCA2的功能. 在DD细胞中,氧化应激会破坏细胞间的粘附,突出显示异合体变体如何与外部因素相互作用,引起疾病爆发.

    更多相关视频

    Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model03:45

    Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

    Published on: August 8, 2022

    2.9K
    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

    9.6K

    相关概念视频

    Inborn Errors of Metabolism01:20

    Inborn Errors of Metabolism

    Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
    107
    Incomplete Dominance01:43

    Incomplete Dominance

    Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
    20.3K
    Overview of Carbohydrate Metabolism01:19

    Overview of Carbohydrate Metabolism

    Carbohydrate metabolism is a fundamental biochemical process that ensures a constant supply of energy to living cells. The most important carbohydrate is glucose, which can be broken down via glycolysis to enter into the Krebs cycle and eventually lead to the production of ATP through oxidative phosphorylation.
    Glucose transport into cells is facilitated by a family of transport proteins called GLUT (Glucose Transporters). GLUT4 is the primary glucose transporter for insulin-stimulated glucose...
    525
    Genetic Lingo01:11

    Genetic Lingo

    Overview
    98.3K
    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...
    470
    Lethal Alleles02:41

    Lethal Alleles

    Agouti: A Lethal Allele
    Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
    13.1K