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Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects.
Li Q, Zhao L, Zeng Y, Kuang Y, Guan Y, Chen B, Xu S, Tang B, Wu L, Mao X, Sun X, Shi J, Xu P, Diao F, Xue S, Bao S, Meng Q, Yuan P, Wang W, Ma N, Song D, Xu B, Dong J, Mu J, Zhang Z, Fan H, Gu H, Li Q, He L, Jin L, Wang L, Sang Q. Li Q, et al. Among authors: shi j. Genome Biol. 2023 Apr 6;24(1):68. doi: 10.1186/s13059-023-02894-0. Genome Biol. 2023. PMID: 37024973 Free PMC article.
Mutations in TUBB8 and Human Oocyte Meiotic Arrest.
Feng R, Sang Q, Kuang Y, Sun X, Yan Z, Zhang S, Shi J, Tian G, Luchniak A, Fukuda Y, Li B, Yu M, Chen J, Xu Y, Guo L, Qu R, Wang X, Sun Z, Liu M, Shi H, Wang H, Feng Y, Shao R, Chai R, Li Q, Xing Q, Zhang R, Nogales E, Jin L, He L, Gupta ML Jr, Cowan NJ, Wang L. Feng R, et al. Among authors: shi h, shi j. N Engl J Med. 2016 Jan 21;374(3):223-32. doi: 10.1056/NEJMoa1510791. N Engl J Med. 2016. PMID: 26789871 Free PMC article.
A pannexin 1 channelopathy causes human oocyte death.
Sang Q, Zhang Z, Shi J, Sun X, Li B, Yan Z, Xue S, Ai A, Lyu Q, Li W, Zhang J, Wu L, Mao X, Chen B, Mu J, Li Q, Du J, Sun Q, Jin L, He L, Zhu S, Kuang Y, Wang L. Sang Q, et al. Among authors: shi j. Sci Transl Med. 2019 Mar 27;11(485):eaav8731. doi: 10.1126/scitranslmed.aav8731. Sci Transl Med. 2019. PMID: 30918116
Homozygous Mutations in BTG4 Cause Zygotic Cleavage Failure and Female Infertility.
Zheng W, Zhou Z, Sha Q, Niu X, Sun X, Shi J, Zhao L, Zhang S, Dai J, Cai S, Meng F, Hu L, Gong F, Li X, Fu J, Shi R, Lu G, Chen B, Fan H, Wang L, Lin G, Sang Q. Zheng W, et al. Among authors: shi r, shi j. Am J Hum Genet. 2020 Jul 2;107(1):24-33. doi: 10.1016/j.ajhg.2020.05.010. Epub 2020 Jun 4. Am J Hum Genet. 2020. PMID: 32502391 Free PMC article.
Identification novel mutations in TUBB8 in female infertility and a novel phenotype of large polar body in oocytes with TUBB8 mutations.
Zhao L, Guan Y, Wang W, Chen B, Xu S, Wu L, Yan Z, Li B, Fu J, Shi R, Shi J, Du J, Li Q, Zhang Z, Mu J, Zhou Z, Dong J, Jin L, He L, Sun X, Kuang Y, Wang L, Sang Q. Zhao L, et al. Among authors: shi r, shi j. J Assist Reprod Genet. 2020 Aug;37(8):1837-1847. doi: 10.1007/s10815-020-01830-6. Epub 2020 Jun 10. J Assist Reprod Genet. 2020. PMID: 32524331 Free PMC article.
Biallelic mutations in CDC20 cause female infertility characterized by abnormalities in oocyte maturation and early embryonic development.
Zhao L, Xue S, Yao Z, Shi J, Chen B, Wu L, Sun L, Xu Y, Yan Z, Li B, Mao X, Fu J, Zhang Z, Mu J, Wang W, Du J, Liu S, Dong J, Wang W, Li Q, He L, Jin L, Liang X, Kuang Y, Sun X, Wang L, Sang Q. Zhao L, et al. Among authors: shi j. Protein Cell. 2020 Dec;11(12):921-927. doi: 10.1007/s13238-020-00756-0. Protein Cell. 2020. PMID: 32666501 Free PMC article. No abstract available.
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