相关实验视频
Updated: Feb 1, 2026

07:58
Characterizing Mutational Load and Clonal Composition of Human Blood
Published on: July 11, 2019
7.8K
在具有HNRNPR突变的小鼠和人类模型中表征和治疗受精失败
Shiming Gan1, Yangyang Li2, Lin Yin2
1Department of Reproductive Medicine, Center for Reproductive Medicine, the Fourth Affiliated Hospital of School of Medicine, and International School of Medicine, International Institutes of Medicine, Zhejiang University, Yiwu, 322000, China. shiminggan@zju.edu.cn.
EMBO molecular medicine
|January 30, 2026
概括
在HNRNPR的突变导致男性不孕症通过损害卵细胞激活. 这项研究确定HNRNPR对受精至关重要,并探索针对卵细胞激活失败的新疗法策略.
科学领域:
- 生殖生物学 生殖生物学
- 人类遗传学 人类遗传学
- 关于受精的分子机制
背景情况:
- 卵细胞激活对于受精至关重要,但由于精子缺陷而导致的失败不明.
- 很少有基因与精子衍生的卵细胞激活失败有关,因此机制和治疗方法尚不清楚.
研究的目的:
- 确定精子衍生的卵细胞激活失败的遗传原因.
- 阐明这种不孕不育背后的分子机制.
- 制定有效的治疗策略.
主要方法:
- 在不孕症患者中进行全外测序.
- 一个Hnrnpr knock-in鼠标模型的生成.
- 对振荡和脂酶C zeta (PLCζ) 表达的分析.
- 对RNA拼接调节的研究 (m6A依赖).
主要成果:
- 在不育患者中发现了致病性HNRNPR突变.
- 小鼠中的Hnrnpr突变重复了人类不育现象型.
- 受影响个体/小鼠的精子显示PLCζ表达减少和错位.
- HNRNPR以一种m6A依赖的方式调节Plcz1拼接.
- 人工卵细胞激活 (AOA) 和Nusa-PLC恢复了受精.
结论:
- HNRNPR突变导致精子传播的卵细胞激活失败和男性不孕症.
- 缺陷的HNRNPR会损害PLCζ的功能,破坏的振荡.
- 像AOA和NusaA-PLC等向疗法显示出恢复生育能力的希望.
相关概念视频
Heart Failure VI: Adjunct Therapies
336
Additional therapies for treating patients with heart failure (HF) may include procedural interventions, supplemental oxygen, the management of sleep disorders, and nutritional therapy.Procedural InterventionsImplantable Cardioverter-Defibrillator: For patients at risk of life-threatening arrhythmias due to severe left ventricular dysfunction, an Implantable Cardioverter-Defibrillator (ICD) can detect and terminate these arrhythmias, preventing sudden cardiac death and improving survival rates.
336
Mutations
94.5K
Overview
94.5K
Mutations
44.5K
Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
44.5K
Viral Mutations
39.9K
A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...
39.9K
Modeling in Therapy
466
Modeling, a key technique in therapy, uses observational learning to help clients acquire and practice new skills by watching therapists demonstrate desired behaviors. This approach, rooted in Albert Bandura's concept of vicarious learning, plays a significant role in therapeutic interventions for various psychological conditions, including social anxiety, ADHD, and depression.
Participant Modeling
Participant modeling involves therapists demonstrating calm and effective behaviors in...
Participant Modeling
Participant modeling involves therapists demonstrating calm and effective behaviors in...
466
Fertilization
91.2K
During fertilization, an egg and sperm cell fuse to create a new diploid structure. In humans, the process occurs once the egg has been released from the ovary, and travels into the fallopian tubes. The process requires several key steps: 1) sperm present in the genital tract must locate the egg; 2) once there, sperm need to release enzymes to help them burrow through the protective zona pellucida of the egg; and 3) the membranes of a single sperm cell and egg must fuse, with the sperm...
91.2K

