Jove
Visualize
联系我们
JoVE
x logofacebook logolinkedin logoyoutube logo
关于 JoVE
概览领导团队博客JoVE 帮助中心
作者
出版流程编辑委员会范围与政策同行评审常见问题投稿
图书馆员
用户评价订阅访问资源图书馆顾问委员会常见问题
研究
JoVE JournalMethods CollectionsJoVE Encyclopedia of Experiments存档
教育
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab Manual教师资源中心教师网站
使用条款与条件
隐私政策
政策

相关概念视频

Lysosomal Hydrolases01:22

Lysosomal Hydrolases

3.8K
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

您也可能阅读

相关文章

通过共同作者、期刊和引用图与本文相关的文章。

排序
Same author

Development and validity evidence of a knowledge assessment in genomics sequencing report interpretation for non-geneticist medical trainees.

BMC medical education·2026
Same author

Hands-free phosphoproteomics workflow with a high-throughput automated system enabled by superhydrophilic nanomaterials.

Mikrochimica acta·2026
Same author

Differential COVID-19 Outcomes Across Lysosomal Disorders.

medRxiv : the preprint server for health sciences·2026
Same author

Advancing Pulmonary Fibrosis Care: Integrating Genomic Insights Into Clinical Practice.

Mayo Clinic proceedings·2026
Same author

A Second Report of a Missense Variant in AMMECR1 Causing Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis: Case Report and Literature Review.

Clinical genetics·2026
Same author

Multimodal Genotype-Phenotype Analysis in SMARCB1-Associated Developmental Disorders.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

相关实验视频

Updated: Jun 13, 2025

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens
09:33

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

Published on: August 25, 2023

1.1K

开发一个评分系统,以优先考虑在 lysosomal 疾病的基因治疗.

Matheus Vernet Machado Bressan Wilke1, Jennifer Goldstein2, Emily Groopman3

  • 1Department of Pathology and Immunology, Washington University in St. Louis, MO, United States of America.

Molecular genetics and metabolism
|September 12, 2024
PubMed
概括

一个新的评分系统,即 lysosomal disease scoring system (ldss),有助于对诊断 lysosomal diseases (ld) 的基因进行优先排序. 这个工具有助于识别基因基因测试面板和理解LD定义的基因.

关键词:
在ClinGen中,使用ClinGen.遗传学 遗传学 是一个Lysosomal 疾病是一种溶解体疾病.lysosomal 储存疾病 lysosomal 储存疾病

更多相关视频

Comparative Lesions Analysis Through a Targeted Sequencing Approach
08:16

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

6.7K
A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants
06:35

A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants

Published on: October 10, 2022

1.9K

相关实验视频

Last Updated: Jun 13, 2025

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens
09:33

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

Published on: August 25, 2023

1.1K
Comparative Lesions Analysis Through a Targeted Sequencing Approach
08:16

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

6.7K
A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants
06:35

A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants

Published on: October 10, 2022

1.9K

科学领域:

  • 遗传学 遗传学 是一个
  • 分子生物学分子生物学
  • 医学诊断 医学诊断 医学诊断

背景情况:

  • 溶解体疾病 (LD) 引起多系统性问题,需要准确的诊断.
  • 基因检测对于LD诊断越来越重要.
  • 扩展基因列表需要评估诊断面板的基因有效性.

研究的目的:

  • 开发一个评分系统 (LDSS) 用于定义和优先考虑与 lysosomal 疾病相关的基因.
  • 帮助临床有效性治疗和适合性评估用于LD向测序面板.

主要方法:

  • 文献审查确定了LD定义的14个标准,分为"总体定义"",表型"和"病理生理学".
  • 经过专家评估,标准被加权并细化成"主要"和"次要"类别.
  • 在已知的LDs上验证了LDSS,并与 Lysosomal Disease Network 的基因列表进行了测试.

主要成果:

  • LDSS包括4个主要标准和10个次要标准,并为LD分类设定了界限.
  • 确定了与LD相关的四个基因,这些基因不在官方LDN名单上.
  • 一些非经典的LD基因获得较低的分数,这表明它们可能不适合LD特定的小组.

结论:

  • LDSS提供了一种系统的方法来优先考虑临床有效性评估的基因,提高治愈效率.
  • 这种评分系统有助于定义LD,并为未来的研究和发现提供灵活的框架.