相关实验视频

Updated: Jun 14, 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

使用ClinGen临床有效性框架评估参与 lysosomal疾病的基因

Emily Groopman, Shruthi Mohan, Amber Waddell

    medRxiv : the preprint server for health sciences
    |August 30, 2024
    PubMed
    概括

    这项研究评估了56个与溶酶体疾病 (LDs),罕见遗传疾病相关的基因的临床有效性. 这些发现对于改善这些复杂疾病的基因组测序诊断方法至关重要.

    更多相关视频

    Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation09:02

    Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation

    Published on: November 26, 2018

    21.1K
    In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease10:16

    In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

    Published on: December 20, 2017

    8.0K

    相关概念视频

    Lysosomal Hydrolases01:22

    Lysosomal Hydrolases

    Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
    3.8K