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

Pleiotropy01:33

Pleiotropy

40.5K
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,...
40.5K
Smooth Endoplasmic Reticulum01:21

Smooth Endoplasmic Reticulum

5.8K
Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
5.8K

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

Final Results of the Majorana Demonstrator's Search for Double-Beta Decay of ^{76}Ge to Excited States of ^{76}Se.

Physical review letters·2025
Same author

Exotic Dark Matter Search with the Majorana Demonstrator.

Physical review letters·2024
Same author

Erratum: Search for Spontaneous Radiation from Wave Function Collapse in the Majorana Demonstrator [Phys. Rev. Lett. 129, 080401 (2022)].

Physical review letters·2023
Same author

Final Result of the Majorana Demonstrator's Search for Neutrinoless Double-β Decay in ^{76}Ge.

Physical review letters·2023
Same author

Search for Spontaneous Radiation from Wave Function Collapse in the Majorana Demonstrator.

Physical review letters·2022
Same author

Search for Solar Axions via Axion-Photon Coupling with the Majorana Demonstrator.

Physical review letters·2022

相关实验视频

Updated: Jul 4, 2025

Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
09:33

Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases

Published on: July 28, 2013

28.4K

[沃尔夫拉姆类综合征:一个病例报告]

B X Zhu1, L Zhang1, H Y Wang1

  • 1Shaanxi Eye Hospital, Xi'an People's Hospital (Xi'an Fourth Hospital), Xi'an 710004, China.

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology
|January 31, 2024
PubMed
概括

沃尔夫拉姆样综合征是一种自体主导性疾病,由于WFS1基因突变而导致视力和听力损失. 这一案例突出了被诊断患有这种罕见疾病的儿童的新突变.

科学领域:

  • 遗传学 是一个遗传学.
  • 眼科医生 眼科 眼科
  • 神经学 神经学

背景情况:

  • 沃尔夫拉姆综合征通常是自体逆向的,但沃尔夫拉姆状综合征是自体主导的.
  • 它是由WFS1基因中的异质合体突变引起的.
  • 这种情况会导致逐渐的视力和听力损失.

研究的目的:

  • 报告一个儿科病人的沃尔夫拉姆类综合征病例.
  • 描述这种罕见疾病的临床和遗传发现.
  • 强调基因检测在诊断沃尔夫拉姆类综合征中的重要性.

主要方法:

  • 对一名视力丧失和听力受损的7岁男孩进行临床检查.
  • 眼科成像,包括光学连贯性断层扫描 (OCT).
  • 基因测试用于识别WFS1基因中的突变.

主要成果:

  • 眼科检查显示双边光盘缩.
  • OCT成像显示了特征性的外形层加厚和异常分层.
  • 基因检测发现了WFS1基因中的一个新异位异构误解突变c.2051C>T (p.A684V).

结论:

更多相关视频

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

7.9K
Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

2.4K

相关实验视频

Last Updated: Jul 4, 2025

Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
09:33

Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases

Published on: July 28, 2013

28.4K
A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

7.9K
Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

2.4K
  • 鉴定到的WFS1基因突变证实了对沃尔夫拉姆类综合征的诊断.
  • 这一案例强调了沃尔夫拉姆类综合征的遗传基础和临床表现.
  • 通过基因检测进行早期诊断对于管理沃尔夫拉姆状综合征至关重要.