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项目编号 PRJCA012479
项目标题 Whole exome sequencing of 1030 patiens with premature ovarian insufficiency
涉及领域 Medical
数据类型 Exome
物种名称 Homo sapiens
描述信息 Premature ovarian insufficiency (POI) is a major cause of female infertility due to early loss of ovarian function. Yet a large proportion of POI cases are idiopathic, with multiple lines of evidence supporting a genetic basis for pathogenesis. Here, we performed whole-exome sequencing in a large POI cohort of 1,030 patients aimed to provide a detailed characterization of its genetic landscape.
样品范围 Multiisolate
发布日期 2022-10-13
出版信息
PubMed ID 文章标题 杂志名称 Doi 发表年份
36732629 Landscape of pathogenic mutations in premature ovarian insufficiency Nature Medicine 10.1038/s41591-022-02194-3 2023
37270785 Pathogenic bi-allelic variants of meiotic ZMM complex gene SPO16 in premature ovarian insufficiency Clinical Genetics 10.1111/cge.14380 2023
38483614 Novel compound heterozygous variants in FANCI cause premature ovarian insufficiency Human Genetics 10.1007/s00439-024-02650-9 2024
36856110 TP63 gain-of-function mutations cause premature ovarian insufficiency by inducing oocyte apoptosis The Journal of Clinical Investigation 10.1172/JCI162315 2023
项目资金来源
机构 项目类型 授权项目ID 授权项目名称
National Key Research & Developmental Program of China 2017YFC1001100
National Key Research & Developmental Program of China 2018YFC1003702
National Science Fund for Distinguished Young Scholars 82125014
National Natural Science Foundation of China (NSFC) 32030020
National Natural Science Foundation of China (NSFC) 32070847
Basic Science Center Program of NSFC 31988101
Basic Science Center Program of NSFC 32288101
Key Project of Natural Science Foundation of Shandong Province ZR202105250005
Taishan Scholars Program for Young Experts of Shandong Province tsqn20161069
Shanghai Municipal Science and Technology Major Project 2017SHZDZX01
the 111 Project B13016
Shandong University Education Foundation Public Welfare Project 23460047102008
提交者 Shuyan Tang (tangshuyan@fudan.edu.cn)
提交单位 Fudan University
提交日期 2022-10-13

项目包含数据信息

资源名称 描述
BioSample (2060)  show -