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

Classification of Bones01:18

Classification of Bones

9.5K
The bones of the human skeletal system are of varied shapes, sizes, and functions. They can be classified based on their shape and function into four major classes: long bones, short bones, flat bones, and irregular bones. Some classifications include a fifth type, the sesamoid bones, as a separate class, whereas others categorize them under short bones.
Long and Short Bones
The appendicular skeleton, particularly the upper and lower limbs, is primarily made of long and short bones. The...
9.5K
Cohesins02:20

Cohesins

5.4K
Cohesin protein complexes are a molecular glue that holds two sister chromatids together. They play an important role both in mitosis and meiosis. In mitosis, all cohesin complexes present on the chromosomes are removed before the start of the anaphase stage.
Cohesin complexes in Meiotic Division
Meiosis involves two distinct rounds of chromosomal segregation and cell divisions— Meiosis I followed by Meiosis II – producing four daughter cells. Meiosis I includes the separation of...
5.4K
Classification of Skeletal Muscle Fibers01:48

Classification of Skeletal Muscle Fibers

59.3K
Skeletal muscles continuously produce ATP to provide the energy that enables muscle contractions. Skeletal muscle fibers can be categorized into three types based on differences in their contraction speed and how they produce ATP, as well as physical differences related to these factors. Most human muscles contain all three muscle fiber types, albeit in varying proportions.
Slow-Twitch Muscle Fibers
Slow oxidative, muscle fibers appear red due to large numbers of capillaries and high levels of...
59.3K
Incomplete Dominance01:43

Incomplete Dominance

29.6K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
29.6K
Classification of Skeletal Muscle Relaxants01:28

Classification of Skeletal Muscle Relaxants

3.0K
Skeletal muscle relaxants are a group of drugs that can reduce muscle stiffness and induce temporary paralysis to relieve pain. These agents can act centrally to reduce muscle tone or spasms in painful conditions such as multiple sclerosis (MS), amyotrophic lateral sclerosis (ALS), or spinal injuries; they are called antispasmodics or spasmolytics.
Peripherally acting skeletal muscle relaxants interfere with the neurotransmission at the neuromuscular end plate to induce paralysis during...
3.0K
Karyotyping01:17

Karyotyping

68.0K
Overview
68.0K

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

When X Does Not Mark the Spot: Autosomal Dominant and Recessive Forms of Renal Hypophosphatemic Rickets and Osteomalacia.

Current osteoporosis reports·2026
Same author

Confirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasia.

European journal of human genetics : EJHG·2026
Same author

Biallelic Variants in MIMS1 Produce a Form of Spondyloepimetaphyseal Dysplasia With Tracheal Stenosis and Ectodermal Dysplasia (SEMDTSED).

American journal of medical genetics. Part A·2026
Same author

PTH treatment is effective in the Aga2/+ mouse model of moderate to severe osteogenesis imperfecta.

Bone·2026
Same author

Psychotic Features in Myhre Syndrome: Evidence for Broader Neuropsychiatric Surveillance.

American journal of medical genetics. Part C, Seminars in medical genetics·2026
Same author

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research.

American journal of medical genetics. Part C, Seminars in medical genetics·2026

相关实验视频

Updated: Jan 10, 2026

Selecting Multiple Biomarker Subsets with Similarly Effective Binary Classification Performances
07:35

Selecting Multiple Biomarker Subsets with Similarly Effective Binary Classification Performances

Published on: October 11, 2018

7.9K

使用ClinGen治愈框架对涉及骨疾病的基因进行基于证据的分类.

Ryan F Webb1, Hannah McCurry1, Amanda Girod1

  • 1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
|November 28, 2025
PubMed
概括

克林基因骨障碍基因治疗专家小组最终将9个关键基因与骨功能障碍联系起来. 这种遗传证据加强了骨疾病的诊断面板.

关键词:
克林根是个很好的城市.基因疾病的有效性基因组医学是基因组医学.骨的骨架是指一个骨.骨架疾病 骨架疾病骨发育不良症 骨发育不良症

更多相关视频

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

21.2K
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

34.5K

相关实验视频

Last Updated: Jan 10, 2026

Selecting Multiple Biomarker Subsets with Similarly Effective Binary Classification Performances
07:35

Selecting Multiple Biomarker Subsets with Similarly Effective Binary Classification Performances

Published on: October 11, 2018

7.9K
In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

21.2K
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

34.5K

科学领域:

  • 遗传学 是一个遗传学.
  • 骨生物学 骨生物学
  • 临床诊断 临床诊断 临床诊断

背景情况:

  • 已知有超过770种遗传骨疾病,与550多个基因有关.
  • 准确的基因疾病关系数据对于临床遗传测试小组至关重要.
  • ClinGen骨疾病基因理专家小组旨在验证这些关系.

研究的目的:

  • 为了评估常见的骨功能障碍的基因疾病关系的临床有效性.
  • 评估涉及骨疾病的九个特定基因 (COL1A1,COL1A2,COL2A1,FGFR3,SLC26A2,TRPV4,COMP,ALPL,SOX9) 的结果.
  • 为临床试验实验室提供诊断面板可靠基因标的信息.

主要方法:

  • 使用了由ClinGen.开发的半定量评分框架.
  • 对与26种不同的骨疾病相关的9个基因进行了医学文献的审查.
  • 评估了每个基因疾病关联的证据的强度.

主要成果:

  • 所有九个基因都显示出与至少一个骨疾病的明确关联.
  • 在评估的26个基因与疾病的关系中,有22个 (84.6%) 被归类为确定的.
  • 两种关系被归类为中度,两种关系被归类为有限,需要进一步的数据来确认.

结论:

  • 克林基因骨疾病基因理专家小组确立了九种基因与骨疾病之间的明确联系.
  • 这些发现提高了骨疾病遗传检测的准确性和可靠性.
  • 需要进一步的研究,以将中度和有限的基因疾病关系升级为最终的状态.