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

Genetic Lingo01:11

Genetic Lingo

102.8K
Overview
102.8K
Pedigree Analysis01:35

Pedigree Analysis

84.3K
Overview
84.3K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

13.4K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
13.4K
Lethal Alleles02:41

Lethal Alleles

15.4K
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
15.4K
Genetic Screens02:46

Genetic Screens

4.9K
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
4.9K
Cholesterol: Significance and Regulation01:29

Cholesterol: Significance and Regulation

548
Although not a source of energy, cholesterol plays a significant role as a foundational structure for bile salts, steroid hormones, and vitamin D, as well as being a crucial component of plasma membranes. Approximately 15% of blood cholesterol is derived from our diet, with the remainder synthesized from acetyl CoA by the liver and intestines. Cholesterol is eliminated from the body through its conversion into bile salts, which are eventually discarded in the feces.
Considering cholesterol and...
548

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

A Thematic Analysis of Key Informant Interviews on the Implementation Experience of the HEARTS Hypertension Program in Nigeria.

Global heart·2026
Same author

Correction to: 2026 ACC/AHA/AACVPR/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Dyslipidemia: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.

Circulation·2026
Same author

A 2-year randomized trial of pitavastatin calcium vs placebo to treat combined dyslipidemia in adolescents with overweight and obesity.

Journal of clinical lipidology·2026
Same author

Evidence-Informed Prioritization of Interventions for Integrating Hypertension Management into Cardiovascular-Kidney-Metabolic Care in Primary Health Care: HEARTS 2.0 Phase 3.

American journal of hypertension·2026
Same author

Cost-Effectiveness of ApoB, Non-HDL-C, and LDL-C Goals for Primary Prevention Lipid-Lowering Therapy.

JAMA·2026
Same author

Traditional and Emerging Lipid Markers for Cardiovascular Risk Assessment in Young vs Older Adults.

JAMA network open·2026

相关实验视频

Updated: Jul 4, 2025

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
10:56

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes

Published on: September 15, 2018

8.2K

对家族性高胆固醇血症进行遗传检测.

Yiyi Zhang1, Sarah D de Ferranti2,3, Andrew E Moran1

  • 1Division of General Medicine, Columbia University, New York, New York.

Current opinion in lipidology
|February 1, 2024
PubMed
概括

对家族性高胆固醇血症 (FH) 的遗传检测未得到充分利用,但对于降低心血管疾病 (CVD) 风险至关重要. 整合基因测试可以改善FH诊断,查和治疗坚持.

科学领域:

  • 心血管遗传学 心血管遗传学
  • 临床诊断 临床诊断 临床诊断
  • 公共卫生基因组学

背景情况:

  • 家族性高胆固醇血症 (FH) 是心血管疾病 (CVD) 最常见的遗传原因.
  • 在美国,对FH的遗传检测未得到充分利用.
  • 目前的诊断标准可能会错过FH病例.

研究的目的:

  • 审查基因测试在FH诊断和查中的临床实用性.
  • 探索基因测试在改善心血管疾病风险分层和管理方面的作用.
  • 评估将基因测试整合到FH查计划中的可行性.

主要方法:

  • 对FH遗传检测研究的文献综述.
  • 分析FH致病变体对心血管疾病风险的影响.
  • 评估不同的FH查策略 (级联,有针对性,通用).

主要成果:

  • 导致FH的变体显著增加心血管疾病的风险,即使在轻微的LDL-C升高的情况下.
  • 基因检测可以识别错过的FH病例,并提高风险分层.
  • 将基因检测纳入查中可以改善检测和治疗坚持.
  • 具有基因和脂质检测的通用FH查模型是有效的.

更多相关视频

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

3.1K
Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

7.7K

相关实验视频

Last Updated: Jul 4, 2025

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
10:56

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes

Published on: September 15, 2018

8.2K
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

3.1K
Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

7.7K

结论:

  • 基因检测的系统整合可以通过早期检测和治疗来减少FH的负担.
  • 需要进一步的实施研究,以节省成本,将其纳入脂质查计划.