Sang Q, Ray PF, Wang L. Understanding the genetics of human infertility[J]. Science. 2023;380(6641):158–63.
Article CAS PubMed Google Scholar
He M, Zhang T, Yang Y, et al. Mechanisms of oocyte maturation and related epigenetic regulation[J]. Front Cell Dev Biol. 2021;9:654028.
Article PubMed PubMed Central Google Scholar
Solovova OA, Chernykh VB. Genetics of oocyte maturation defects and early embryo development arrest. Genes (Basel). 2022;13(11):1920. https://doi.org/10.3390/genes13111920.
Article CAS PubMed PubMed Central Google Scholar
Huang HL, Lv C, Zhao YC, et al. Mutant ZP1 in familial infertility[J]. N Engl J Med. 2014;370(13):1220–6.
Article CAS PubMed PubMed Central Google Scholar
Feng R, Sang Q, Kuang Y, et al. Mutations in TUBB8 and human oocyte meiotic arrest[J]. N Engl J Med. 2016;374(3):223–32.
Article CAS PubMed PubMed Central Google Scholar
Chen T, Bian Y, Liu X, et al. A recurrent missense mutation in ZP3 causes empty follicle syndrome and female infertility[J]. Am J Hum Genet. 2017;101(3):459–65.
Article CAS PubMed PubMed Central Google Scholar
Chen B, Zhang Z, Sun X, et al. Biallelic mutations in PATL2 cause female infertility characterized by oocyte maturation arrest[J]. Am J Hum Genet. 2017;101(4):609–15.
Article CAS PubMed PubMed Central Google Scholar
Sang Q, Li B, Kuang Y, et al. Homozygous mutations in WEE2 cause fertilization failure and female infertility[J]. Am J Hum Genet. 2018;102(4):649–57.
Article CAS PubMed PubMed Central Google Scholar
Dai C, Hu L, Gong F, et al. ZP2 pathogenic variants cause in vitro fertilization failure and female infertility[J]. Genet Med. 2019;21(2):431–40.
Article CAS PubMed Google Scholar
Sang Q, Zhang Z, Shi J, Sun X, Li B, Yan Z, et al. A pannexin 1 channelopathy causes human oocyte death. Sci Transl Med. 2019;11(485):eaav8731. https://doi.org/10.1126/scitranslmed.aav8731.
Zheng W, Zhou Z, Sha Q, et al. Homozygous mutations in BTG4 cause zygotic cleavage failure and female infertility[J]. Am J Hum Genet. 2020;107(1):24–33.
Article CAS PubMed PubMed Central Google Scholar
Zhang Z, Li B, Fu J, et al. Bi-allelic missense pathogenic variants in TRIP13 cause female infertility characterized by oocyte maturation arrest[J]. Am J Hum Genet. 2020;107(1):15–23.
Article CAS PubMed PubMed Central Google Scholar
Wang W, Dong J, Chen B, et al. Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest[J]. J Med Genet. 2020;57(3):187–94.
Article CAS PubMed Google Scholar
Maddirevula S, Coskun S, Al-Qahtani M, et al. ASTL is mutated in female infertility[J]. Hum Genet. 2022;141(1):49–54.
Article CAS PubMed Google Scholar
Wang W, Wang W, Xu Y, et al. FBXO43 variants in patients with female infertility characterized by early embryonic arrest[J]. Hum Reprod. 2021;36(8):2392–402.
Article CAS PubMed Google Scholar
Zheng W, Sha QQ, Hu H, et al. Biallelic variants in ZFP36L2 cause female infertility characterised by recurrent preimplantation embryo arrest[J]. J Med Genet. 2022;59(9):850–7.
Article CAS PubMed Google Scholar
Zhao L, Guan Y, Meng Q, et al. Identification of novel mutations in CDC20: expanding the mutational spectrum for female infertility[J]. Front Cell Dev Biol. 2021;9:647130.
Article PubMed PubMed Central Google Scholar
Alazami AM, Awad SM, Coskun S, et al. TLE6 mutation causes the earliest known human embryonic lethality[J]. Genome Biol. 2015;16:240.
Article PubMed PubMed Central Google Scholar
Xu Y, Shi Y, Fu J, et al. Mutations in PADI6 cause female infertility characterized by early embryonic arrest[J]. Am J Hum Genet. 2016;99(3):744–52.
Article CAS PubMed PubMed Central Google Scholar
Wang W, Miyamoto Y, Chen B, Shi J, Diao F, Zheng W, et al. Karyopherin α deficiency contributes to human preimplantation embryo arrest. J Clin Invest. 2023;133(2):e159951. https://doi.org/10.1172/JCI159951.
Mu J, Wang W, Chen B, et al. Mutations in NLRP2 and NLRP5 cause female infertility characterised by early embryonic arrest[J]. J Med Genet. 2019;56(7):471–80.
Article CAS PubMed Google Scholar
Zhang YL, Zheng W, Ren P, et al. Biallelic mutations in MOS cause female infertility characterized by human early embryonic arrest and fragmentation[J]. EMBO Mol Med. 2021;13(12):e14887.
Article CAS PubMed PubMed Central Google Scholar
Beall S, Brenner C, Segars J. Oocyte maturation failure: a syndrome of bad eggs. Fertil Steril. 2010;94(7):2507–13. https://doi.org/10.1016/j.fertnstert.2010.02.037.
Article PubMed PubMed Central Google Scholar
Nakamura Y, Tanaka KJ, Miyauchi M, Huang L, Tsujimoto M, Matsumoto K. Translational repression by the oocyte-specific protein P100 in Xenopus. Dev Biol. 2010;344(1):272–83. https://doi.org/10.1016/j.ydbio.2010.05.006.
Article CAS PubMed Google Scholar
Christou-Kent M, Kherraf ZE, Amiri-Yekta A, Le Blévec E, Karaouzène T, Conne B, et al. PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice. EMBO Mol Med. 2018;10(5):e8515. https://doi.org/10.15252/emmm.201708515.
Huang L, Tong X, Wang F, et al. Novel mutations in PATL2 cause female infertility with oocyte germinal vesicle arrest[J]. Hum Reprod. 2018;33(6):1183–90.
Article CAS PubMed Google Scholar
Wu L, Chen H, Li D, et al. Novel mutations in PATL2: expanding the mutational spectrum and corresponding phenotypic variability associated with female infertility[J]. J Hum Genet. 2019;64(5):379–85.
Article CAS PubMed Google Scholar
Liu Z, Zhu L, Wang J, et al. Novel homozygous mutations in PATL2 lead to female infertility with oocyte maturation arrest[J]. J Assist Reprod Genet. 2020;37(4):841–7.
Article PubMed PubMed Central Google Scholar
Christou-Kent M, Kherraf ZE, Amiri-Yekta A, Le Blévec E, Karaouzène T, Conne B, et al. PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice. EMBO Mol Med. 2018;10(5):e8515. https://doi.org/10.15252/emmm.201708515.
Maddirevula S, Coskun S, Alhassan S, Elnour A, Alsaif HS, Ibrahim N, et al. Female infertility caused by mutations in the oocyte-specific translational repressor PATL2. Am J Hum Genet. 2017;101(4):603–8. https://doi.org/10.1016/j.ajhg.2017.08.009.
Article CAS PubMed PubMed Central Google Scholar
Yang K, Shen M, Yan Y, et al. Genetic analysis in fetal skeletal dysplasias by trio whole-exome sequencing[J]. Biomed Res Int. 2019;2019:2492590.
PubMed PubMed Central Google Scholar
Wang KLM, Hakonarson H. ANNOVAR: functional annotation of genetic variants from next-generation sequencing data[J]. Nucleic Acids Res. 2010;38:e164.
留言 (0)