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

Skin Diseases and Disorders01:23

Skin Diseases and Disorders

3.9K
Skin is the first line of defense and encounters a variety of microbes. Some pathogenic strains are often the cause of a broad range of infections of the skin and other body systems. These conditions can affect people of all ages and may have different causes, including genetic factors, infections, autoimmune reactions, environmental factors, and lifestyle choices.
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
3.9K
Changes in Skin Color: Clinical Perspectives01:14

Changes in Skin Color: Clinical Perspectives

2.0K
The first thing a clinician sees is the skin, so the examination of the skin should be part of any thorough physical examination. Most skin disorders are relatively benign, but a few, including melanomas, can be fatal if untreated. A couple of the more noticeable disorders, albinism and vitiligo, affect the appearance of the skin and its accessory organs.
Albinism
Albinism is a genetic disorder that affects (completely or partially) the coloring of skin, hair, and eyes. The defect is primarily...
2.0K
Pleiotropy01:33

Pleiotropy

40.6K
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,...
40.6K
Pedigree Analysis01:35

Pedigree Analysis

84.4K
Overview
84.4K
Pigmentation01:19

Pigmentation

2.5K
The color of the skin is influenced by a number of pigments, including melanin, carotene, and hemoglobin. Recall that melanin is produced by cells called melanocytes, which are found scattered throughout the stratum basale of the epidermis. The melanin is transferred to the keratinocytes via melanosomes.
Melanin occurs in two primary forms: eumelanin that provides black and brown pigment and pheomelanin that provides red color. Dark-skinned individuals produce more melanin than those with pale...
2.5K
Epistasis01:39

Epistasis

46.9K
In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...
46.9K

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

Effectiveness of a multidisciplinary "crisis checklist" on nursing performance during intraoperative cardiac arrest: A simulation-based study.

Scientific reports·2026
Same author

NDUFA4 Deletion Upregulates VDAC1 to Promote Mitochondrial Damage, Endoplasmic Reticulum Expansion, and Neuronal Apoptosis.

Human mutation·2026
Same author

Unlocking Random Poly(ether-ester-carbonate) Polyols with Ultralow Molecular Weight.

ACS macro letters·2026
Same author

Palladium-Catalyzed Carbonylative Alternating Copolymerization of Alkynols and Carbon Monoxide.

Angewandte Chemie (International ed. in English)·2026
Same author

Biomimetic supported catalyst inspired by stalked crinoid.

Nature communications·2026
Same author

Age-Related Differences in Efficacy and Safety of Subcutaneous Immunotherapy in Allergic Rhinitis: A Real-World Study.

OTO open·2026

相关实验视频

Updated: Jul 14, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.8K

与白风相关的PDIA2变体

Fucheng Li1, Can Liao1, Ru Li1

  • 1Department of Prenatal Diagnostic Center Guangzhou Women and Children's Medical Center Guangzhou Medical University Guangzhou China.

Skin health and disease
|October 6, 2023
PubMed
概括

基因分析揭示了一种新的基因PDIA2,与白风易感性有关. 这一发现促进了对导致白风风险的复杂遗传因素的理解.

更多相关视频

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

13.7K
Electroporation-Based Genetic Modification of Primary Human Pigment Epithelial Cells Using the Sleeping Beauty Transposon System
07:04

Electroporation-Based Genetic Modification of Primary Human Pigment Epithelial Cells Using the Sleeping Beauty Transposon System

Published on: February 4, 2021

2.1K

相关实验视频

Last Updated: Jul 14, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.8K
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

13.7K
Electroporation-Based Genetic Modification of Primary Human Pigment Epithelial Cells Using the Sleeping Beauty Transposon System
07:04

Electroporation-Based Genetic Modification of Primary Human Pigment Epithelial Cells Using the Sleeping Beauty Transposon System

Published on: February 4, 2021

2.1K

科学领域:

  • 遗传学 是一个遗传学.
  • 皮肤病学 皮肤病学
  • 分子生物学分子生物学

背景情况:

  • Vitiligo 是一种复杂的皮肤疾病,具有重要的遗传成分,占风险的80%.
  • 识别参与白风病原发生的特定基因对于了解疾病机制至关重要.

研究的目的:

  • 识别导致白风易感性的新型遗传因素.
  • 为了研究白风在一个中国家庭的遗传基础.

主要方法:

  • 在一家中国四代人身上进行了联系分析.
  • 进行了整个外体序列测序,以确定候选基因.
  • 聚焦于16p13.3p13.2染色体区域.

主要成果:

  • 确定了16p13.3p13.2位点作为白风的潜在敏感区域.
  • 发现PDIA2是研究家族中与白风相关的新候选基因.

结论:

  • PDIA2基因是白风易感性的新型候选者.
  • 需要进一步的研究来验证PDIA2和白风之间的关联.