Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects

被引：0

作者：

Qun Li

Lin Zhao

Yang Zeng

Yanping Kuang

Yichun Guan

Biaobang Chen

Shiru Xu

Bin Tang

Ling Wu

Xiaoyan Mao

Xiaoxi Sun

Juanzi Shi

Peng Xu

Feiyang Diao

Songguo Xue

Shihua Bao

Qingxia Meng

Ping Yuan

Wenjun Wang

Ning Ma

Di Song

Bei Xu

Jie Dong

Jian Mu

Zhihua Zhang

Huizhen Fan

Hao Gu

Qiaoli Li

Lin He

Li Jin

Lei Wang

Qing Sang

机构：

[1] Fudan University,Institute of Pediatrics, Children’s Hospital of Fudan University, the Shanghai Key Laboratory of Medical Epigenetics, the Institutes of Biomedical Sciences, the State Key Laboratory of Genetic Engineering

[2] Fudan University,Human Phenome Institute

[3] Shanghai Ninth Hospital,Reproductive Medicine Center

[4] Shanghai Jiao Tong University,Department of Reproductive Medicine

[5] The Third Affiliated Hospital of Zhengzhou University,NHC Key Lab of Reproduction Regulation (Shanghai Institute for Biomedical and Pharmaceutical Technologies)

[6] Fudan University,Fertility Center

[7] Shenzhen Zhongshan Urology Hospital,Reproductive Medicine Center

[8] The First People’s Hospital of Changde City,Shanghai Ji Ai Genetics and IVF Institute, Obstetrics and Gynecology Hospital

[9] Fudan University,Reproductive Medicine Center

[10] Northwest Women’s and Children’s Hospital,Reproductive Medicine Center

[11] Hainan Jinghua Hejing Hospital for Reproductive Medicine,Reproductive Medicine Center, School of Medicine

[12] Jiangsu Province Hospital,Department of Reproductive Immunology, Shanghai First Maternity and Infant Hospital

[13] Shanghai East Hospital,Center for Reproduction and Genetics

[14] Tongji University,IVF Center, Department of Obstetrics and Gynecology

[15] Tongji University School of Medicine,Reproductive Medical Center

[16] The Affiliated Suzhou Hospital of Nanjing Medical University,Reproductive Medicine Centre

[17] Sun Yat-Sen Memorial Hospital,Bio

[18] Sun Yat-Sen University,X Center, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Ministry of Education

[19] Maternal and Child Health Care Hospital of Hainan Province,State Key Laboratory of Genetic Engineering and Collaborative Innovation Center for Genetics and Development, School of Life Sciences

[20] Naval Medical University,undefined

[21] Changhai Hospital,undefined

[22] Tongji Hospital,undefined

[23] Tongji Medical College of Huazhong University of Science and Technology,undefined

[24] Shanghai Jiao Tong University,undefined

[25] Fudan University,undefined

来源：

Genome Biology | / 24卷

关键词：

Female infertility; De novo mutations; Reproductive pathways; Microtubule stability;

D O I：

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学科分类号：

摘要：

引用

共 3 条

[1] Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects
Li, Qun
Zhao, Lin
Zeng, Yang
Kuang, Yanping
Guan, Yichun
Chen, Biaobang
Xu, Shiru
Tang, Bin
Wu, Ling
Mao, Xiaoyan
Sun, Xiaoxi
Shi, Juanzi
Xu, Peng
Diao, Feiyang
Xue, Songguo
Bao, Shihua
Meng, Qingxia
Yuan, Ping
Wang, Wenjun
Ma, Ning
Song, Di
Xu, Bei
Dong, Jie
Mu, Jian
Zhang, Zhihua
Fan, Huizhen
Gu, Hao
Li, Qiaoli
He, Lin
Jin, Li
Wang, Lei
Sang, Qing
GENOME BIOLOGY, 2023, 24 (01)
[2] Novel mutations in NLRP5 and PATL2 cause female infertility characterized by primarily oocyte maturation abnormality and consequent early embryonic arrest
Huang, Lingli
Wang, Yu
Lu, Fangting
Jin, Qi
Song, Gaojie
Ji, Jingjuan
Luo, Lihua
Jin, Rentao
Tong, Xianhong
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, 2022, 39 (03) : 711 - 718
[3] Novel mutations in NLRP5 and PATL2 cause female infertility characterized by primarily oocyte maturation abnormality and consequent early embryonic arrest
Lingli Huang
Yu Wang
Fangting Lu
Qi Jin
Gaojie Song
Jingjuan Ji
Lihua Luo
Rentao Jin
Xianhong Tong
Journal of Assisted Reproduction and Genetics, 2022, 39 : 711 - 718

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