Inhorn MC, Patrizio P. Infertility around the globe: new thinking on gender, reproductive technologies and global movements in the 21st century. Hum Reprod Update. 2015;21:411–26.

Article  PubMed  Google Scholar 

Solovova OA, Chernykh VB. Genetics of oocyte maturation defects and early embryo development arrest. Genes. 2022;13(11):1920.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sang Q, Zhou Z, Mu J, Wang L. Genetic factors as potential molecular markers of human oocyte and embryo quality. J Assist Reprod Genet. 2021;38:993–1002.

Article  PubMed  PubMed Central  Google Scholar 

Lin Y, Huang Y, Li B, Zhang T, Niu Y, Hu S, Ding Y, Yao G, Wei Z, Yao N, et al. Novel mutations in PLCZ1 lead to early embryonic arrest as a male factor. Front Cell Dev Biol. 2023;11:1193248.

Article  PubMed  PubMed Central  Google Scholar 

McCoy RC, Summers MC, McCollin A, Ottolini CS, Ahuja K, Handyside AH. Meiotic and mitotic aneuploidies drive arrest of in vitro fertilized human preimplantation embryos. Genome Med. 2023;15:77.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chen BB, Li B, Li D, Yan Z, Mao XY, Xu Y, Mu J, Li QL, Jin L, He L, et al. Novel mutations and structural deletions in TUBB8: expanding mutational and phenotypic spectrum of patients with arrest in oocyte maturation, fertilization or early embryonic development. Hum Reprod. 2017;32:457–64.

Article  CAS  PubMed  Google Scholar 

Liu RY, Zhou YF, Li QL, Chen BB, Zhou Z, Wang L, Wang L, Sang Q, Jin L. A novel homozygous missense variant in BTG4 causes zygotic cleavage failure and female infertility. J Assist Reprod Genet. 2021;38:3261–6.

Article  PubMed  PubMed Central  Google Scholar 

Zhou XP, Xi QS, Jia WM, Li Z, Liu ZX, Luo G, Xing CX, Zhang DZ, Hou MQ, Liu HH, et al. A novel homozygous mutation in ACTL7A leads to male infertility. Mol Genet Genomics. 2023;298:353–60.

Article  CAS  PubMed  Google Scholar 

Wang Y, Yuan P, Yan Z, Yang M, Huo Y, Nie Y, Zhu X, Qiao J, Yan L. Single-cell multiomics sequencing reveals the functional regulatory landscape of early embryos. Nat Commun. 2021;12:1247.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Meng TG, Guo JN, Zhu L, Yin Y, Wang F, Han ZM, Lei L, Ma XS, Xue Y, Yue W, et al. NLRP14 safeguards calcium homeostasis via regulating the K27 ubiquitination of Nclx in oocyte-to-embryo transition. Adv Sci (Weinh). 2023;10:e2301940.

Article  PubMed  Google Scholar 

Zhang W, Zhang R, Wu L, Zhu C, Zhang C, Xu C, Zhao S, Liu X, Guo T, Lu Y, et al. NLRP14 deficiency causes female infertility with oocyte maturation defects and early embryonic arrest by impairing cytoplasmic UHRF1 abundance. Cell Rep. 2023;42:113531.

Article  CAS  PubMed  Google Scholar 

Ding C, Lu J, Li J, Hu X, Liu Z, Su H, Li H, Huang B. RNA-methyltransferase Nsun5 controls the maternal-to-zygotic transition by regulating maternal mRNA stability. Clin Transl Med. 2022;12:e1137.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wu R, Sun C, Chen X, Yang R, Luan Y, Zhao X, Yu P, Luo R, Hou Y, Tian R, et al. NSUN5/TET2-directed chromatin-associated RNA modification of 5-methylcytosine to 5-hydroxymethylcytosine governs glioma immune evasion. Proc Natl Acad Sci U S A. 2024;121:e2321611121.

Article  CAS  PubMed  Google Scholar 

Liu Y, Zhao LW, Shen JL, Fan HY, Jin Y. Maternal DCAF13 regulates chromatin tightness to contribute to embryonic development. Sci Rep. 2019;9:6278.

Article  PubMed  PubMed Central  Google Scholar 

Higuchi C, Yamamoto M, Shin SW, Miyamoto K, Matsumoto K. Perturbation of maternal PIASy abundance disrupts zygotic genome activation and embryonic development via SUMOylation pathway. Biol Open. 2019;8(10):bio048652.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Jentoft IMA, Bäuerlein FJB, Welp LM, Cooper BH, Petrovic A, So C, Penir SM, Politi AZ, Horokhovskyi Y, Takala I, et al. Mammalian oocytes store proteins for the early embryo on cytoplasmic lattices. Cell. 2023;186:5308-5327.e5325.

Article  CAS  PubMed  Google Scholar 

Chi P, Ou G, Qin D, Han Z, Li J, Xiao Q, Gao Z, Xu C, Qi Q, Liu Q, et al. Structural basis of the subcortical maternal complex and its implications in reproductive disorders. Nat Struct Mol Biol. 2024;31:115–24.

Article  CAS  PubMed  Google Scholar 

Li L, Baibakov B, Dean J. A subcortical maternal complex essential for preimplantation mouse embryogenesis. Dev Cell. 2008;15:416–25.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Xu Y, Wang R, Pang Z, Wei Z, Sun L, Li S, Wang G, Liu Y, Zhou Y, Ye H, et al. Novel homozygous PADI6 variants in infertile females with early embryonic arrest. Front Cell Dev Biol. 2022;10:819667.

Article  PubMed  PubMed Central  Google Scholar 

Williams JPC, Walport LJ. PADI6: What we know about the elusive fifth member of the peptidyl arginine deiminase family. Philos Trans R Soc Lond B Biol Sci. 2023;378:20220242.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cao G, Zhu X, Lin Y, Fang J, Shen X, Wang S, Kong N. A novel homozygous variant in PADI6 is associate with human cleavage-stage embryonic arrest. Front Genet. 2023;14:1243230.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Oostdyk LT, Wang Z, Zang C, Li H, McConnell MJ, Paschal BM. An epilepsy-associated mutation in the nuclear import receptor KPNA7 reduces nuclear localization signal binding. Sci Rep. 2020;10:4844.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wang W, Miyamoto Y, Chen B, Shi J, Diao F, Zheng W, Li Q, Yu L, Li L, Xu Y, et al. Karyopherin α deficiency contributes to human preimplantation embryo arrest. J Clin Invest. 2023;133.

Yang Y, Ren Z, Xu F, Meng Y, Zhang Y, Ai N, Long Y, Fok HI, Deng C, Zhao X, et al. Endogenous IGF signaling directs heterogeneous mesoderm differentiation in human embryonic stem cells. Cell Rep. 2019;29:3374-3384.e3375.

Article  CAS  PubMed  Google Scholar 

Wang TH, Chang CL, Wu HM, Chiu YM, Chen CK, Wang HS. Insulin-like growth factor-II (IGF-II), IGF-binding protein-3 (IGFBP-3), and IGFBP-4 in follicular fluid are associated with oocyte maturation and embryo development. Fertil Steril. 2006;86:1392–401.

Article  CAS  PubMed  Google Scholar 

Kordus RJ, Hossain A, Corso MC, Chakraborty H, Whitman-Elia GF, LaVoie HA. Cumulus cell pappalysin-1, luteinizing hormone/choriogonadotropin receptor, amphiregulin and hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 mRNA levels associate with oocyte developmental competence and embryo outcomes. J Assist Reprod Genet. 2019;36:1457–69.

Article  PubMed  PubMed Central  Google Scholar 

Sfakianoudis K, Maziotis E, Karantzali E, Kokkini G, Grigoriadis S, Pantou A, Giannelou P, Petroutsou K, Markomichali C, Fakiridou M, et al. Molecular drivers of developmental arrest in the human preimplantation embryo: a systematic review and critical analysis leading to mapping future research. Int J Mol Sci. 2021;22(15):8353.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wang W, Dong J, Chen B, Du J, Kuang Y, Sun X, Fu J, Li B, Mu J, Zhang Z, et al. Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest. J Med Genet. 2020;57:187–94.

Article  CAS  PubMed  Google Scholar 

Feng R, Sang Q, Kuang Y, Sun X, Yan Z, Zhang S, Shi J, Tian G, Luchniak A, Fukuda Y, et al. Mutations in TUBB8 and human oocyte meiotic arrest. N Engl J Med. 2016;374:223–32.

Article  CAS  PubMed  PubMed Central