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

40.4K
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,...
40.4K
Skin Diseases and Disorders01:23

Skin Diseases and Disorders

3.8K
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...
3.8K
Sexually Transmitted Infections01:26

Sexually Transmitted Infections

300
Sexually transmitted infections (STIs) are diseases transmitted primarily through unsafe sexual interactions. Bacteria, viruses, or parasites cause them and can result in severe health complications if untreated.ChlamydiaThe bacterium Chlamydia trachomatis is responsible for the disease Chlamydia, the most common STI in the United States. This peculiar pathogen requires human cells to reproduce, residing intracellularly. The initial infection often goes unnoticed because it typically does not...
300
Meiosis I01:49

Meiosis I

193.5K
Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by...
193.5K
Sex-linked Disorders01:43

Sex-linked Disorders

102.0K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
102.0K
Multiple Allele Traits01:49

Multiple Allele Traits

34.2K
The Concept of Multiple Allelism
34.2K

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

Potential of 3D Skin Models and N/TERT-2G Cell Line in Genetic Research on Autosomal Recessive Nonsyndromic Epidermal Differentiation Disorders.

Experimental dermatology·2026
Same author

Defining Histological Patterns in Inherited Ichthyoses: Toward a Diagnostic Algorithm Based on 66 Confirmed Cases.

Dermatopathology (Basel, Switzerland)·2026
Same author

Confetti cure: reversing the genetic kaleidoscope of ichthyosis.

The British journal of dermatology·2024
Same author

Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying <i>ABCA12</i> Mutations.

Genes·2024
Same author

CRISPR-Cas12a for Highly Efficient and Marker-Free Targeted Integration in Human Pluripotent Stem Cells.

International journal of molecular sciences·2024
Same author

Novel homozygous LAMB1 in-frame deletion in a pediatric patient with brain anomalies and cerebrovascular event.

American journal of medical genetics. Part A·2023

相关实验视频

Updated: Jun 24, 2025

Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis
10:27

Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis

Published on: December 15, 2011

24.5K

综合症性 Ichthyoses 的综合症.

Judith Fischer1, Alrun Hotz1, Katalin Komlosi1

  • 1University of Freiburg Faculty of Medicine Freiburg Deutschland.

Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V
|June 5, 2024
PubMed
概括
此摘要是机器生成的。

综合性 Ichthyoses,罕见的遗传性皮肤疾病,涉及器官并发症. 早期临床评估和遗传检测对于及时诊断和治疗这些门德尔式角化疾病至关重要.

关键词:
门德尔的角化乱 门德尔的角化乱基因皮肤病的基因皮肤病.代谢过程中的先天性错误.综合征性 Ichthyoses 的情况.

更多相关视频

Dermoscopy Aids in the Diagnosis of Discoid Lupus Erythematosus
05:38

Dermoscopy Aids in the Diagnosis of Discoid Lupus Erythematosus

Published on: May 16, 2025

57
Author Spotlight: Oral Candida Diagnosis to Advance Clinical Treatment Regimen for pSS Patients
05:26

Author Spotlight: Oral Candida Diagnosis to Advance Clinical Treatment Regimen for pSS Patients

Published on: March 1, 2024

934

相关实验视频

Last Updated: Jun 24, 2025

Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis
10:27

Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis

Published on: December 15, 2011

24.5K
Dermoscopy Aids in the Diagnosis of Discoid Lupus Erythematosus
05:38

Dermoscopy Aids in the Diagnosis of Discoid Lupus Erythematosus

Published on: May 16, 2025

57
Author Spotlight: Oral Candida Diagnosis to Advance Clinical Treatment Regimen for pSS Patients
05:26

Author Spotlight: Oral Candida Diagnosis to Advance Clinical Treatment Regimen for pSS Patients

Published on: March 1, 2024

934

科学领域:

  • 皮肤病学 皮肤病学
  • 医学遗传学 医学遗传学
  • 罕见疾病 罕见疾病

背景情况:

  • 遗传性 Ichthyoses 是门德尔的角化障碍 (MEDOC),分为综合征或非综合征.
  • 超过30个基因的突变会导致综合征性 Ichthyosis,其特征是皮肤缩和超化,以及皮肤外器官的参与.
  • 综合性 Ichthyosis 是罕见的,按遗传和症状分类.

研究的目的:

  • 为提供流行综合性 Ichthyosis 子组的简要概述.
  • 突出临床评估的重要性与遗传检测一起用于诊断复杂综合征.
  • 强调评估器官参与,以有效诊断,治疗和生殖咨询.

主要方法:

  • 对流行综合征性 Ichthyosis 形式的审查.
  • 重点是临床评估和遗传特征.
  • 讨论诊断和治疗方法.

主要成果:

  • 概述最常见的综合性 Ichthyosis 子组.
  • 临床评估对于综合性 Ichthyosis 诊断的重要性.
  • 需要积极评估器官参与的需要.

结论:

  • 临床评估对于诊断复杂综合征性 Ichthyosis 至关重要,即使使用遗传检测.
  • 器官干扰的早期诊断指导治疗策略和生殖选择.
  • 建立专门的中心有助于为罕见的角化疾病的患者提供护理.