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HRA007683
   HRA007683.xlsx
Title:
Cryo-EM structure of the human subcortical maternal complex and the associated discovery of infertility-associated variants
Release date:
2024-08-16
Description:
Maternal effect factors play an important role in the regulation of human egg maturation and early embryo development. In recent years, clinical studies have reported many maternal effect gene mutations closely related to female infertility. This project is aimed at patients with egg and embryo development disorders. The maternal effector factor protein expression, DNA methylation, and metabolism levels are detected and compared. By combining the prediction of complex stability of maternal effector factors and the in vitro reconstitution, this project will provide methods for identifying pathogenic variants, reveal the pathogenesis of maternal effect factors related-infertility, and explore the possible clinical diagnostic and treatment strategies.
Data Accessibility:   
Controlled access Request Data
BioProject:
PRJCA026869
Study type:
Disease Study
Disease name:
Infertility
Data Access Committee

For each controlled access study, there is a corresponding Data Access Committee(DAC) to determine the access permissions. Access to actual data files is not managed by NGDC.


DAC NO.:
HDAC004235
DAC name:
DAC of maternal effect factors
Contact person:
Lu Yuechao
Email:
yuechao_lu@163.com
Description:
Receive, review and approve the request of Human Genetic Resources
Individuals & samples
Files
Request Data
Submitter:   Deng Dong / dengd@scu.edu.cn
Organization:   West China Second University Hospital of Sichuan University
Submission date:   2024-06-07
Requests:   -