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A recurrent mutation in TBPL2 causes diminished ovarian reserve and female infertility

摘要Diminished ovarian reserve (DOR) is a disorder of ovarian func-tion in which the ovary loses its normal reproductive potential,including decreasing oocyte quantity and quality.The disorder is associated with infertility in women of reproductive age with reg-ular menses and poor response to controlled ovarian hyperstimula-tion (Broekmans et al.,2009).Multiple etiologies,such as autoimmunity,environmental factors,and iatrogenic factors,have been reported to significantly contribute to DOR (Tal and Seifer,2013).Genetic defects have been increasingly implicated in human diseases;however,only a few genes (GDF9,FMR1,BMP15,and NR5A1) have been identified as responsible for DOR,and the ge-netic determinants of DOR remain largely unknown (Greene et al.,2014;Jaillard et al.,2020).

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作者 Wen-Bin He [1] Ya-Xin Zhang [2] Chen Tan [2] Lan-Lan Meng [3] Gang Liu [1] Yuan Li [1] Fei Gong [1] Bai-Lin Wu [4] Guang-Xiu Lu [5] Ge Lin [5] Juan Du [5] Yue-Qiu Tan [5] 学术成果认领
作者单位 Reproductive and Genetic Hospital of CITIC-Xiangya,Changsha 410083,China;Institute of Reproductive and Stem Cell Engineering,School of Basic Medical Science,Central South University,Changsha 410083,China;Clinical Research Center For Reproduction and Genetics In Hunan Province,Changsha 410083,China [1] Institute of Reproductive and Stem Cell Engineering,School of Basic Medical Science,Central South University,Changsha 410083,China [2] Reproductive and Genetic Hospital of CITIC-Xiangya,Changsha 410083,China;Clinical Research Center For Reproduction and Genetics In Hunan Province,Changsha 410083,China [3] Boston Children's Hospital and Harvard Medical School,Boston,USA [4] Reproductive and Genetic Hospital of ClTIC-Xiangya,Changsha 410083,China;Institute of Reproductive and Stem Cell Engineering,School of Basic Medical Science,Central South University,Changsha 410083,China;Clinical Research Center For Reproduction and Genetics In Hunan Province,Changsha 410083,China [5]
栏目名称 Letter to the Editor
发布时间 2021-07-12
基金项目
We would like to thank all individuals who participated in this study This study was supported by grants from the National Key Research & Developmental Program of China National Natural Science Foundation of China Hunan Provincial Natural Science Foundation of China the Key Grant of Prevention and Treatment of Birth Defect from Hunan Province and the Scientific Research Foundation of Reproductive and Genetic Hospital of CITIC-Xiangya grants The authors have no con-flicts of interest to declare
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