Advances in the genetic etiology of female infertility

1.

Sullivan EA, Zegers-Hochschild F, Mansour R, Ishihara O, Mouzon JD, Nygren KG, Adamson GD. International committee for monitoring assisted reproductive technologies (ICMART) world report: assisted reproductive technology 2004. Hum Reprod. 2013;28(5):1375–90. https://doi.org/10.1093/humrep/det036.CrossRefPubMed

2.

Datta J, Palmer MJ, Tanton C, Gibson LJ, Jones KG, Macdowall W, Glasier A, Sonnenberg P, Field N, Mercer CH, Johnson AM, Wellings K. Prevalence of infertility and help seeking among 15000 women and men. Hum Reprod. 2016;31(9):2108–18. https://doi.org/10.1093/humrep/dew123.CrossRefPubMedPubMedCentral

3.

Nikshad A, Aghlmandi A, Safaralizadeh R, Aghebati-Maleki L, Warkiani ME, Khiavi FM, Yousefi M. Advances of microfluidic technology in reproductive biology. Life Sci. 2021;265:118767. https://doi.org/10.1016/j.lfs.2020.118767.CrossRefPubMed

4.

Pinborg A, Wennerholm UB, Bergh C. Long term outcomes for children conceived by assisted reproductive technology. Fertil Steril. 2023;120(3Pt1):449–56. https://doi.org/10.1016/j.fertnstert.CrossRefPubMed

5.

Herbert M, Choudhary M, Zander-Fox D. Assisted reproductive technologies at the nexus of fertility treatment and disease prevention. Science. 2023;380(6641):164–7. https://doi.org/10.1126/science.adh0073.CrossRefPubMed

6.

Kushnir VA, Barad DH, Albertini DF, Darmon SK, Gleicher N. Systematic review of worldwide trends in assisted reproductive technology 2004–2013. Reprod Biol Endocrinol. 2017;15(1):6. https://doi.org/10.1186/s12958-016-0225-2.CrossRefPubMedPubMedCentral

7.

Biswas L, Tyc K, Yakoubi WE, Morgan K, Xing JC, Schindler K. Meiosis interrupted: the genetics of female infertility via meiotic failure. Reproduction. 2021;161(2):R13–35. https://doi.org/10.1530/REP-20-0422.CrossRefPubMedPubMedCentral

8.

Leng L, Sun J, Huang JR, Gong F, Yang L, Zhang SP, Yuan XY, Fang F, Xu X, Luo YL, Bolund L, Peters BA, Lu GX, Jiang TJ, Xu FP, Lin G. Single-cell transcriptome analysis of uniparental embryos reveals parent-of-origin effects on human preimplantation development. Cell Stem Cell. 2019;25(5):697-712.e6. https://doi.org/10.1016/j.stem.2019.09.004.CrossRefPubMed

9.

Sagi I, De Pinho JC, Zuccaro MV, Atzmon C, Golan-Lev T, Yanuka O, Prosser R, Sadowy A, Perez G, Cabral T, Glaser B, Tsang SH, Goland R, Sauer MV, Lobo R, Benvenisty N, Egli D. Distinct imprinting signatures and biased differentiation of human androgenetic and parthenogenetic embryonic stem cells. Cell Stem Cell. 2019;25(3):419-32.e9. https://doi.org/10.1016/j.stem.2019.06.013.CrossRefPubMed

10.

Yuan SL, Zhan JH, Zhang JY, Liu ZB, Hou ZZ, Zhang CX, Yi LZ, Gao L, Zhao H, Chen ZJ, Liu J, Wu KL. Human zygotic genome activation is initiated from paternal genome. Cell Discov. 2023;9(1):13. https://doi.org/10.1038/s41421-022-00494-z.CrossRefPubMedPubMedCentral

11.

Zou ZN, Zhang CX, Wang QY, Hou ZZ, Xiong ZQ, Kong F, Wang QJ, Song JZ, Liu BY, Liu BF, Wang LJ, Lai FN, Fan Q, Tao WR, Zhao S, Ma XN, Li M, Wu KL, Zhao H, Chen ZJ, Xie W. Translatome and transcriptome co-profiling reveals a role of TPRXs in human zygotic genome activation. Science. 2022;378(6615):abo7923. https://doi.org/10.1126/science.abo7923.CrossRefPubMed

12.

Pos O, Budis J, Szemes T. Recent trends in prenatal genetic screening and testing. F1000Res. 2019;31:8: F1000 Faculty Rev-764. https://doi.org/10.12688/f1000research.16837.1.eCollection2019

13.

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.CrossRefPubMedPubMedCentral

14.

Fei CF, Zhou LQ. Gene mutations impede oocyte maturation, fertilization, and early embryonic development. BioEssays. 2022;44(10):e2200007. https://doi.org/10.1002/bies.202200007.CrossRefPubMed

15.

Amberger JS, Bocchini CA, Scott AF, Hamosh A. OMIMorg.: leveraging knowledge across phenotypegene relationships. Nucleic Acids Res. 2019;47(D1):D1038–43. https://doi.org/10.1093/nar/gky1151.CrossRefPubMed

16.

Kapoor E. Premature ovarian insufficiency. Curr Opin Endocr Metab Res. 2023;28:100435. https://doi.org/10.1016/j.coemr.2023.100435.CrossRefPubMedPubMedCentral

17.

Zeng Y, Li L, Li QC, Hu JJ, Zhang NN, Wu L, Yan Z, Qu RG, Dong J, Liu RY, Choy KW, Wang L, Sang Q, Guan YC, Chen BB. Genetic screening in patients with ovarian dysfunction. Clin Genet. 2023;103(3):352–7. https://doi.org/10.1111/cge.14267.CrossRefPubMed

18.

Practice Committee of the American Soxiety for Reproductive Medicine. Testing and interpreting measures of ovarian reserve. a committee opinion. Fertil Steril. 2012; 98(6):1407–15. https://doi.org/10.1016/j.fertnstert.2012.09.036

19.

Greene AD, Patounakis G, Segars JH. Genetic associations with diminished ovarian reserve: a systematic review of the literature. J Assist Reprod Genet. 2014;31(8):935–46. https://doi.org/10.1007/s10815-014-0257-5.CrossRefPubMedPubMedCentral

20.

Pastore LM, Young SL, Baker VL, Karns LB, Williams CD, Silverman LM. Elevated prevalence of 35–44 FMR1 trinucleotide repeats in women with diminished ovarian reserve. Reprod Sci. 2012;19(11):1226–31. https://doi.org/10.1177/1933719112446074.CrossRefPubMedPubMedCentral

21.

Barasoain M, Barrenetxea G, Huerta I, Telez M, Carrillo A, Perez C, Criado B, Arrieta I. Study of FMR1 gene association with ovarian dysfunction in a sample from the Basque country. Gene. 2013;521(1):145–9. https://doi.org/10.1016/j.gene.2013.03.032.CrossRefPubMed

22.

Sullivan SD, Welt C, Sherman S. FMR1 and the continuum of primary ovarian insufficiency. Semin Reprod Med. 2011;29(4):299–307. https://doi.org/10.1055/s-0031-1280915.CrossRefPubMed

23.

Biancalana V, Glaeser D, McQuaid S, Steinbach P. EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders. Europ J Hum Genet. 2015;23(4):417–25. https://doi.org/10.1038/ejhg.2014.185.CrossRefPubMed

24.

Boustanai I, Raanani H, Aizer A, Orvieto R, Elizur SE. Granulosa cell dysfunction is associated with diminished ovarian response in FMR1 premutation carriers. J Clin Endocrinol Metab. 2022;107(11):3000–9. https://doi.org/10.1210/clinem/dgac536.CrossRefPubMed

25.

Quilichini J, Perol S, Cuisset L, Grotto S, Fouveaut C, Barbot JC, Verebi C, Jordan P, Heron D, Molina-Gomes D, Pipiras E, Grynberg M, Catteau-Jonard S, Touraine P, Christin-maitre S, Plu-Bureau G, Khattabi LE, Bienvenu T. Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene. Am J Med Genet A. 2024;194(4):e63479. https://doi.org/10.1002/ajmg.a.63479.CrossRefPubMed

26.

Yu L, Li MW, Zhang HJ, He QH, Wan F, Zhang CL, Wang F. Novel pathogenic splicing variants in helicase for meiosis 1(HFM1) are associated with diminished ovarian reserve and poor pregnancy outcomes. J Assist Reprod Genet. 2022;39(9):2135–41. https://doi.org/10.1007/s10815-022-02580-3.CrossRefPubMedPubMedCentral

27.

Pu D, Wang C, Cao J, Shen Y, Jiang H, Liu J, Wu BL, Zhang W, Wu J. Association analysis between HFM1 variation and primary ovarian insufficiency in Chinese women. Clin Genet. 2016;89(5):597–602. https://doi.org/10.1111/cge.12718.CrossRefPubMed

28.

Wang H, Zhong C, Yang R, Yin YX, Tan RR, Gao L, Gao C, Cui YG, Pu DH, Wu J. Hfm1 participates in Golgi-associated spindle assembly and division in mouse oocyte meiosis. Cell Death Dis. 2020;11(6):490. https://doi.org/10.1038/s41419-020-2697-4.CrossRefPubMedPubMedCentral

29.

Tang D, Lv M, Gao Y, Cheng HR, Li KK, Xu C, Geng H, Li GJ, Shen QS, Wang C, He XJ, Cao YX. Novel variants in helicase for meiosis 1 lead to male infertility due to non-obstructive azoospermia. Reprod Biol Endocrinol. 2021;19(1):129. https://doi.org/10.1186/s12958-021-00815-z.CrossRefPubMedPubMedCentral

30.

Wang J, Zhang W, Jiang H, Wu BL. Mutations in HFM1 in recessive primary ovarian insufficiency. N Engl J Med. 2014;370(10):972–4. https://doi.org/10.1056/NEJMc1310150.CrossRefPubMed

31.

Zhe J, Chen S, Chen X, Liu YD, Li Y, Zhou XY, Zhang J. A novel heterozygous splice-altering mutation in HFM1 may be a cause of premature ovarian insufficiency. J Ovarian Res. 2019;12(1):61. https://doi.org/10.1186/s13048-019-0537-x.CrossRefPubMedPubMedCentral

32.

Shekari S, Stankovic S, Gardner EJ, Hawkes G, Kentistou KA, Beaumont RN, Morseburg A, Wood AR, Prague JK, Mishra GD, Day FR, Baptista J, Wright CF, Weedon MN, Hoffmann ER, Ruth KS, Ong KK, Perry JRB, Murray A. Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency. Nat Med. 2023;29(7):1692–9. https://doi.org/10.1038/s41591-023-02405-5.CrossRefPubMed

33.

Luo W, Ke HN, Tang SY, Jiao X, Li ZQ, Zhao SD, Zhang F, Guo T, Qin YY. Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants. J Ovarian Res. 2023; 16(1):39. https://doi.org/10.1186/s13048-023-01104-6

34.

Ke HN, Tang SY, Guo T, Hou D, Jiao X, Li S, Luo W, Xu BY, Zhao SD, Li GY, Zhang XX, Xu SH, Wang LB, Wu YH, Wang JC, Zhang F, Qin YY, Jin L, Chen ZJ. Landscape of pathogenic mutations in premature ovarian insufficiency. Nat Med. 2023;29(2):483–92. https://doi.org/10.1038/s41591-022-02194-3.CrossRefPubMedPubMedCentral

35.

Jiao X, Ke H, Qin Y, Chen ZJ. Molecular genetics of premature ovarian insufficiency. Trends Endocrinol Metab. 2018;29(11):795–807. https://doi.org/10.1016/j.tem.2018.07.002.CrossRefPubMed

36.

Heddar A, Beckers D, Fouquet B, Roland D, Misrahi M. A novel phenotype combining primary ovarian insufficiency growth retardation and Pilomatricomas with MCM8 mutation. J Clin Endocrinol Metab. 2020;105(6):155. https://doi.org/10.1210/clinem/dgaa155.CrossRef

37.

Caburet S, Heddar A, Dardillac E, Creux H, Lambert M, Messiaen S, Tourpin S, Livera G, Lopez BS, Misrahi M. Homozygous hypomorphic BRCA2 variant in primary ovarian insufficiency without cancer or Fanconi anaemia trait. J Med Genet. 2020;1:jmedgenet-2019–106672. https://doi.org/10.1136/jmedgenet-2019-106672

38.

Carlosama C, Elzaiat M, Patiño LC, Mateus HE, Veitia RA, Laissue P. A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency. Hum Mol Genet. 2017;26(16):3161–6. https://doi.org/10.1093/hmg/ddx199.CrossRefPubMed

39.

Guo T, Zhao S, Zhao S, Chen M, Li G, Jiao X, Wang Z, Zhao Y, Qin Y, Gao F, Chen Z-J. Mutations in MSH5 in primary ovarian insufficiency. Hum Mol Genet. 2017;26(8):1452–7. https://doi.org/10.1093/hmg/ddx044.CrossRefPubMedPubMedCentral

40.

Heddar A, Misrahi M. Concerns regarding the potentially causal role of FANCA heterozygous variants in human primary ovarian insufficiency. Hum Genet. 2021;140(4):691–4. https://doi.org/10.1007/s00439-020-02232-5.CrossRefPubMed

41.

Fouquet B, Pawlikowska P, Caburet S, Guigon C, Mäkinen M, Tanner L, Hietala M, Urbanska K, Bellutti L, Legois B, Bessieres B, Gougeon A, Benachi A, Livera G, Rosselli F, Veitia RA, Misrahi M. A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency. Elife. 2017;6:e30490. https://doi.org/10.7554/eLife.30490.CrossRefPubMedPubMedCentral

42.

Zhang YX, Li HY, He WB, Tu C, Du J, Li W, Lu GX, Lin G, Yang Y, Tan YQ. XRCC2 mutation causes premature ovarian insufficiency as well as non-obstructive azoospermia in humans. Clin Genet. 2019;95(3):442–3. https://doi.org/10.1111/cge.13475.CrossRefPubMed

43.

Heddar A, Misrahi M. Should FANCL heterozygous pathogenic variants be considered as potentially causative of primary ovarian insufficiency? Hum Mutat. 2020;41(9):1697–9. https://doi.org/10.1002/humu.24077.CrossRefPubMed

44.

Qin Y, Guo T, Li G, Tang T-S, Zhao S, Jiao X, Gong J, Gao F, Guo C, Simpson JL, Chen Z-J. CSB-PGBD3 mutations cause premature ovarian failure. PLoS Genet. 2015;11(7):e1005419. https://doi.org/10.1371/journal.pgen.1005419.CrossRefPubMedPubMedCentral

45.

Schuh-Huerta SM, Johnson NA, Rosen MP, Sternfeld B, Cedars MI, Reijo Pera RA. Genetic markers of ovarian follicle number and menopause in women of multiple ethnicities. Hum Genet. 2012;131(11):1709–24. https://doi.org/10.1007/s00439-012-1184-0.CrossRefPubMedPubMedCentral

46.

Potorac I, Laterre M, Malaise O, Nechifor V, Fasquelle C, Colleye O, Detrembleur N, Verdin H, Symoens S, Baere ED, Daly AF, Bours V, Petrossians P, Pintiaux A. The role of MCM9 in the etiology of sertoli cell-only syndrome and premature ovarian insufficiency. J Clin Med. 2023;12(3):990. https://doi.org/10.3390/jcm12030990.CrossRefPubMedPubMedCentral

47.

Desai S, Wood-Trageser M, Matic J, Chipkin J, Jiang H, Bachelot A, Dulon J, Sala C, Barbieri C, Cocca M, Toniolo D, Touraine P, Witchel S, Rajkovic A. MCM8 and MCM9 nucleotide variants in women with primary ovarian insufficiency. J Clin Endocrinol Metab. 2017;102(2):576–82. https://doi.org/10.1210/jc.2016-2565.CrossRefPubMed

48.

Tenenbaum-Rakover Y, Weinberg-Shukron A, Renbaum P, Lobel O, Eideh H, Gulsuner S, Dahary D, Rayyan AA, Kanaan M, Levy-Lahad E, Bercovich D, Zangen D. Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure. J Med Genet. 2015;52(6):391–9. https://doi.org/10.1136/jmedgenet-2014-102921.CrossRefPubMed

49.

AlAsiri S, Basit S, Woods-Trageser MA, Yatsenko SA, Jeffries EP, Surti U, Ketterer DM, Afzal S, Ramzan K, Haque MF, Jiang HY, Trakselis MA, Rajkovic A. Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability. J Clin Invest. 2015;125(1):258–62. https://doi.org/10.1172/JCI78473.CrossRefPubMed

50.

Dou X, Guo T, Li G, Zhou L, Qin Y, Chen Z. Minichromosome maintenance complex component 8 mutations cause primary ovarian insufficiency. Fertil Steril. 2016;106(6):1485-9.e2. https://doi.org/10.1016/j.fertnstert.2016.08.018.CrossRefPubMed

51.

Bouali N, Francou B, Bouligand J, Lmanci D, Dimassi S, Tosca L, Zaouali M, Mougou S, Young J, Saad A, Guiochon-Mantel A. New MCM8 mutation associated with premature ovarian insufficiency and chromosomal instability in a highly consanguineous Tunisian family. Fertil Steril. 2017;108(4):694–702. https://doi.org/10.1016/j.fertnstert.2017.07.015.CrossRefPubMed

52.

Fauchereau F, Shalev S, Chervinsky E, Beck-Fruchter R, Legois B, Fellous M, Caburet S, Veitia RAA. non-sense MCM9 mutation in a familial case of primary ovarian insufficiency. Clin Genet. 2016;89(5):603–7. https://doi.org/10.1111/cge.12736.CrossRefPubMed

53.

Woods-Tragesar M, Gurbuz F, Yatsenko SA, Jeffries EP, Kotan LD, Surti U, Ketterer DM, Matic J, Chipkin J, Jiang HY, Trakselis MA, Topaloglu KA, Rajkovic A. MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability. Am J Hum Genet. 2014;95(6):754–62. https://doi.org/10.1016/j.ajhg.2014.11.002.CrossRef

54.

Qin Y, Zhang F, Chen ZJ. BRCA2 in ovarian development and function. N Engl J Med. 2019;380(11):1086–7. https://doi.org/10.1056/NEJMc1813800.CrossRefPubMed

55.

Daum H, Zlotogora J. Fanconi anemia gene variants in patients with gonadal dysfunction. Reprod sci. 2022;29(5):1408–13. https://doi.org/10.1007/s43032-021-00582-7.CrossRefPubMed

56.

Yang YJ, Guo T, Liu R, Ke HN, Xu WW, Zhao SD, Qin YY. FANCL gene mutations in premature ovarian insufficiency. Hum Mutat. 2020;41(5):1033–41. https://doi.org/10.1002/humu.23997.CrossRefPubMed

57.

Suh EK, Yang A, Kettenbach A, Bamberger C, Michaelis AH, Zhu Z, Elvin JA, Crum CP, McKeon F. p63 protects the female germ line during meiotic arrest. Nature. 2006;444(7119):624–8. https://doi.org/10.1038/nature05337.CrossRefPubMed

58.

Coutandin D, Osterburg C, Srivastav RK, Sumyk M, Kehrloesser S, Gebel J, Tuppi M, Schäfer B, Salah E, Mathea S, Müller-Kuller U, Doutch J, Grez M, Knapp S, Dötsch V. Quality control in oocytes by p63 is based on a spring-loaded activation mechanism on the molecular and cellular level. Elife. 2016;5:e13909. https://doi.org/10.7554/eLife.13909.CrossRefPubMedPubMedCentral

59.

Tucker EJ, Gutfreund N, Belaud-Rotureau MA, Gilot D, Brun T, Kline BL, Bell KM, Domin-Bernhard M, Theard C, Touraine P, Robevska G, Bergen JVVD, Ayers KL, Sinclair AH, Dotsch V, Jaillard S. Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency. Hum Mutat. 2022;43(10):1443–53. https://doi.org/10.1002/humu.24432.CrossRefPubMedPubMedCentral

60.

Huang CZ, Zhao SM, Yang YJ, Guo T, Ke HN, Mi X, Qin YY, Chen ZJ, Zhao SD. TP63 gain-of-function mutations cause premature ovarian insufficiency by inducing oocyte apoptosis. J Clin Invest. 2023;133(5):e162315. https://doi.org/10.1172/JCI162315.CrossRefPubMedPubMedCentral

61.

Mihajlovic AI, FitzHarris G. Segregating chromosomes in the mammalian oocyte. Curr Biol. 2018;28(16):R895–907. https://doi.org/10.1016/j.cub.2018.06.057.CrossRefPubMed

62.

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.CrossRefPubMedPubMedCentral

63.

Rudak E, Dor J, Kimchi M, Goldman B, Levran D, Mashiach S. Anomalies of human oocytes from infertile women under-going treatment by in vitro fertilization. Fertil Steril. 1990;54(2):292–6. https://doi.org/10.1016/s0015-0282(16)53706-6.CrossRefPubMed

64.

Feng R, Sang Q, Kuang Y, Sun XX, Zheng Y, Zhang SZ, Shi JZ, Tian GL, Luchniak A, Fukuda Y, Li B, Yu M, Chen JL. Xu Y, Guo L, Qu RG, Wang XQ, Sun ZG, Liu M, Shi HJ, Wang HY, Feng Y, Shao RJ, Chai RJ, Li QL, Xing QH, Zhang R, Nogales E, Jin L, He L, Jr Gupta M.L, Cowan N.J, Wang L. Mutations in TUBB8 and human oocyte meiotic arrest. N Engl J Med. 2016;374(3): 223–32. https://doi.org/10.1056/NEJMoa1510791

65.

Ebru H, Dahan MH, Sezer O, Basbug A, Kaan H, Gungor ND, Baltaci V, Tan SL, Safak H. TUBB8 mutations as a cause of oocyte maturation abnormalities: presentation of oocyte and embryo profiles and novel mutations. Reprod biomed online. 2023;47(5):103257. https://doi.org/10.1016/j.rbmo.2023.06.012.CrossRefPubMed

66.

Boroujeni PB, Rooney K, Alikhani M, Rahmati S, Feli G, Haratian K, Movaghar B, Meybodi AM. Evaluation of TUBB8 gene alterations in infertile women with oocyte maturation and cleavage arrest referred to Royan Institute. Reprod Biomed Online. 2023;47(4):103226. https://doi.org/10.1016/j.rbmo.2023.04.017.CrossRefPubMed

67.

Feng RZ, Yan Z, Li B, Yu M, Sang Q, Tian GL, Xu Y, Chen BB, Qu RG, Sun ZG, Sun XX, Jin L, He L, Kuang YP, Cowan NJ, Wang L. Mutations in TUBB8 cause a multiplicity of phenotypes in human oocytes and early embryos. J Med Genet. 2016;53(10):662–71. https://doi.org/10.1136/jmedgenet-2016-103891.CrossRefPubMed

68.

Zhang J, Li SP, Huang F, Xu R, Wang D, Song T, Liang BL, Liu D, Chen JL, Shi XB, Huang HL. A novel compound heterozygous mutation in TUBB8 causing early embryonic developmental arrest. J Assist Reprod Genet. 2023;40(4):753–63. https://doi.org/10.1007/s10815-023-02734-x.CrossRefPubMedPubMedCentral

69.

Hu TWY, Li C, Qiao S, Liu WW, Han W, Li W, Shi R, Xue X, Shi JZ, Huang GN, Lin TT. Novel variants in TUBB8 gene cause multiple phenotypic abnormalities in human oocytes and early embryos. J Ovarian Res. 2023;16(1):228. https://doi.org/10.1186/s13048-023-01274-3.CrossRefPubMedPubMedCentral

70.

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.CrossRefPubMed

71.

Christou-Kent M, Kherraf ZE, Amiri-Yekta A, Blevec EL, Karaouzene T, Conne B, Escoffier J, Assou S, Guttin A, Lambert E, Martinez G, Boguenet M, Mustapha SFB, Durnerin IC, Halouani L, Marrakchi O, Makni M, Latrous H, Kharouf M, Coutton C, Thierry-Mieg N, Nef S, Bottari SP, Zouari R, Issartel JP, Ray PF, Arnoult C. 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.

72.

Maddirevula S, Coskun S, Alhassan S, Elnour A, Alsaif HS, Ibrahim N, Abdulwahab F, Arold ST, Alkuraya FS. 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.CrossRefPubMedPubMedCentral

73.

Chen B, Zhang Z, Sun X, Kuang Y, Mao X, Wang X, Yan Z, Li B, Xu Y, Yu M, Fu J, Mu J, Zhou Z, Li Q, Jin L, He L, Sang Q, Wang L. Biallelic mutations in PATL2 cause female infertility characterized by oocyte maturation arrest. Am J Hum Genet. 2017;101(4):609–15. https://doi.org/10.1016/j.ajhg.2017.08.018.CrossRefPubMedPubMedCentral

74.

Zhou H, Cai YL, Luo Q, Zou L, Yin YX, Chen Y, Xiong F. High carrier frequency of pathogenic PATL2 gene mutations predicted in population: a bioinformatics-based approach. Front Genet. 2023;14:1097951. https://doi.org/10.3389/fgene.2023.1097951.CrossRefPubMedPubMedCentral

75.

Ye ZQ, Li D, Niu XL, Yang AM, Pan ZQ, Yu R, Gu H, Shi R, Wu L, Xiang YF, Hao GM, Kuang YP, Chen BB, Wang L, Sang Q, Li L, Shi JZ, Li QL. Identification novel mutations and phenotypic spectrum expanding in PATL2 in infertile women with IVF/ICSI failure. J Assist Reprod Genet. 2024;41(5):1233–43. https://doi.org/10.1007/s10815-024-03071-3.CrossRefPubMed

76.

Wu L, Chen H, Li D, Song D, Chen B, Yan Z, Lyu Q, Wang L, Kuang Y, Li B, Sang Q. Novel mutations in PATL2: expanding the mutational spectrum and corresponding phenotypic variability associated with female infertility. J Hum Genet. 2019;64(5):379–85. https://doi.org/10.1038/s10038-019-0568-6.CrossRefPubMed

77.

Alfieri C, Chang L, Barford D. Mechanism for remodelling of the cell cycle checkpoint protein MAD2 by the ATPase TRIP13. Nature. 2018;559(7713):274–8. https://doi.org/10.1038/s41586-018-0281-1.CrossRefPubMedPubMedCentral

78.

Yost S, de Wolf B, Hanks S, Zachariou A, Marcozzi C, Clarke M, de Voer RM, Etemad B, Uijttewaal E, Ramsay E, Wylie H, Elliott A, Picton S, Smith A, Smithson S, Seal S, Ruark E, Houge G, Pines J, Kops JPLG, Rahman N. Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation. Nat Genet. 2017;49(7):1148–51. https://doi.org/10.1038/ng.3883.CrossRefPubMedPubMedCentral

79.

Zhang Z, Li B, Fu J, Li R, Diao F, Li C, Chen B, Du J, Zhou Z, Mu J, Yan Z, Wu L, Liu S, Wang WJ, Zhao L, Dong J, He L, Liang XZ, Kuang YP, Sun XX, Sang Q, Wang L. Bi-allelic missense pathogenic variants in TRIP13 cause female infertility characterized by oocyte maturation arrest. Am J Hum Genet. 2020;107(1):15–23. https://doi.org/10.1016/j.ajhg.2020.05.001.CrossRefPubMedPubMedCentral

80.

Hu H, Zhang S, Guo J, Meng F, Chen X, Gong F, Lu G, Zheng W, Lin G. Identification of novel variants of thyroid hormone receptor interaction protein 13 that cause female infertility characterized by zygotic cleavage failure. Front Physiol. 2022;13:899149. https://doi.org/10.3389/fphys.2022.899149.CrossRefPubMedPubMedCentral

81.

Lv XJ, Guo J, Lin G. Novel mutations in TRIP13 lead to female infertility with oocyte maturation arrest. Yi Chuan. 2023;45(6):514–25. https://doi.org/10.16288/j.yczz.23-022.CrossRefPubMed

82.

Wojtasz L, Daniel K, Roig I, Bolcun-Filas E, Xu H, Boon-sanay V, Eckmann CR, Cooke HJ, Jasin M, Keeney S, Mckay MJ, Toth A. Mouse HORMAD1 and HORMAD2, two conserved meiotic chromosomal proteins, are depleted from synapsed chromosome axes with the help of TRIP13 AAA- ATPase. PLoS Genet. 2009;5(10):e1000702. https://doi.org/10.1371/journal.pgen.1000702.CrossRefPubMedPubMedCentral

83.

Pacheco S, Marcet-Ortega M, Lange J, Jasin M, Keeney S, Roig I. The ATM signaling cascade promotes recombination-dependent pachytene arrest in mouse spermatocytes. PLoS Genet. 2015;11(3):e1005017. https://doi.org/10.1371/journal.pgen.1005017.CrossRefPubMedPubMedCentral

84.

Gazdag E, Rajkovic A, Torres-Padilla ME, Tora L. Analysis of TATA-binding protein 2 (TBP2) and TBP expression suggests different roles for the two proteins in regulation of gene expression during oogenesis and early mouse development. Reproduction. 2007;134(1):51–62. https://doi.org/10.1530/REP-06-0337.CrossRefPubMed

85.

Hamazaki N, Kyogoku H, Araki H, Miura F, Horikawa C, Hamada N, Shimamoto S, Hikabe O, Nakashima K, Kitajima ST, Ito T, Leitch HG, Hayashi K. Reconstitution of the oocyte transcriptional network with transcription factors. Nature. 2021;589(7841):264–9. https://doi.org/10.1038/s41586-020-3027-9.CrossRefPubMed

86.

He WB, Zhang YX, Tan C, Meng LL, Liu G, Li Y, Gong F, Wu BL, Lu GX, Lin G, Du J, Tan YQ. A recurrent mutation in TBPL2 causes diminished ovarian reserve and female infertility. J Genet Genomics. 2020;47(12):785–8. https://doi.org/10.1016/j.jgg.2020.09.004.CrossRefPubMed

87.

Yang P, Chen T, Wu K, Hou Z, Zou Y, Li M, Zhang X, Xu J, Zhao H. A homozygous variant in TBPL2 was identified in women with oocyte maturation defects and infertility. Hum Reprod. 2021;36(7):2011–9. https://doi.org/10.1093/humrep/deab094.CrossRefPubMed

88.

Wang Y, Xiang MF, Yu ZJ, Hao Y, Xu QH, Kong S, Wang FS, Shi XM, Song GJ, Cao YX, Huang LL, Zhu FX. A homozygous missense mutation in TBPL2 is associated with oocyte maturation arrest and degeneration. Clin Genet. 2021;100(3):324–8. https://doi.org/10.1111/cge.13993.CrossRefPubMed

89.

Piekorz RP, Hoffmeyer A, Duntch CD, McKay C, Nakajima H, Sexl V, Snyder L, Rehg J, Ihle JN. Centrosomal TACC3 protein is essential for hematopoietic stem cell function and genetically interfaces with P53-regulated apoptosis. EMBO J. 2002;21(4):653–64. https://doi.org/10.1093/emboj/21.4.653.CrossRefPubMedPubMedCentral

90.

Wu TY, Dong J, Fu J, Kuang YP, Chen BB, Gu H, Luo YX, Gu RH, Zhang ML, Li W, Dong X, Sun XX, Sang Q, Wang L. The mechanism of acentrosomal spindle assembly in human oocytes. Science. 2022;378(6621):eabq7361. https://doi.org/10.1126/science.abq7361.CrossRefPubMed

91.

Jiang ZY, Fan HY. Five questions toward mRNA degradation in oocytes and preimplantation embryos: when, who, to whom, how, and why? Biol Reprod. 2022;107(1):62–75. https://doi.org/10.1093/biolre/ioac014.CrossRefPubMed

92.

Sha QQ, Zheng W, Wu YW, Li S, Guo L, Zhang SP, Lin G, Ou XH, Fan HY. Dynamics and clinical relevance of maternal mRNA clearance during the oocyte-to-embryo transition in humans. Nat Commun. 2020;11(1):4917. https://doi.org/10.1038/s41467-020-18680-6.CrossRefPubMedPubMedCentral

93.

Wan X, Hu HL, Sun JQ, Meng F, Gong F, Lin G, Liao HQ, Zheng W. Identification of novel compound heterozygous ZFP36L2 variants implicated in oocyte maturation defects and female infertility. J Assist Reprod Genet. 2024;41(8):1955–63. https://doi.org/10.1007/s10815-024-03154-1.CrossRefPubMed

94.

Zhou Z, Fan HZ, Shi R, Zeng Y, Liu RY, Gu H, Li QL, Sang Q, Wang L, Shi JZ, Chen BB. A novel homozygous variant in ZFP36L2 cause female infertility due to oocyte maturation defect. Clin Genet. 2023;104(4):461–5. https://doi.org/10.1111/cge.14362.CrossRefPubMed

95.

Wang WJ, Guo J, Shi JZ, Li Q, Chen BB, Pan ZQ, Qu RG, Fu J, Shi R, Xue X, Mu J, Zhang ZH, Wu TY, Wang WJ, Zhao L, Li QL, He L, Sun XX, Sang Q, Lin G, Wang L. Bi-allelic pathogenic variants in PABPC1L cause oocyte maturation arrest and female infertility. EMBO Mol Med. 2023;15(6):e17177. https://doi.org/10.15252/emmm.202217177.CrossRefPubMedPubMedCentral

96.

Choi Y, Ballow DJ, Xin Y, Rajkovic A. Lim homeobox gene, lhx8, is essential for mouse oocyte differentiation and survival. Biol Reprod. 2008;79(3):442–9. https://doi.org/10.1095/biolreprod.108.069393.CrossRefPubMedPubMedCentral

97.

Ren Y, Suzuki H, Jagarlamudi K, Golnoski K, McGuire M, Lopes R, Pachnis V, Rajkovic A. Lhx8 regulates primordial follicle activation and postnatal folliculogenesis. BMC Biol. 2015;13:39. https://doi.org/10.1186/s12915-015-0151-3.CrossRefPubMedPubMedCentral

98.

Zhao L, Li Q, Kuang YP, Xu P, Sun XX, Meng QX, Wang WJ, Zeng Y, Chen BB, Fu J, Dong J, Zhu JW, Luo YX, Gu H, Li CH, Li CY, Wu L, Mao XY, Fan HZ, Liu RY, Zhang ZH, Li QL, Du J, He L, Jin L, Wang L, Sang Q. Heterozygous loss-of-function variants in LHX8 cause female infertility characterized by oocyte maturation arrest. Genet Med. 2022;24(11):2274–84. https://doi.org/10.1016/j.gim.2022.07.027.CrossRefPubMed

99.

Zhang L, Rahbari R, He M, Kebebew E. CDC23 regulates cancer cell phenotype and is overexpressed in papillary thyroid cancer. Endocr Relat Cancer. 2011;18:731–42. https://doi.org/10.1530/ERC-11-0181.CrossRefPubMedPubMedCentral

100.

Zhou Q, Li J, Yue W, Li A, Meng TG, Lei WL, Fan LH, Ouyang YC, Schatten H, Wang ZB, Sun QY. Cell division cycle 23 is required for mouse oocyte meiotic maturation. FASEB J. 2020;34:8990–9002. https://doi.org/10.1096/fj.202000131R.CrossRefPubMed

101.

Fan HZ, Zhou Z, Zheng W, Guan YC, Meng QX, Wang WJ, Dong J, Wan LX, Zhu JW, Zeng Y, Liu RY, Gu H, Lin G, Chen BB, Sang Q, Wang L. Homozygous variants in CDC23 cause female infertility characterized by oocyte maturation defects. Hum Genet. 2023;142(11):1621–31. https://doi.org/10.1007/s00439-023-02606-5.CrossRefPubMed

102.

Huang LL, Li WQ, Dai XX, Zhao S, Xu B, Wang FS, Jin RT, Luo LH, Wu LM, Jiang X, Cheng Y, Zou JQ, Xu CL, Tong XH, Fan HY, Zhao H, Bao JQ. Biallelic variants in MAD2L1BP(p31^comet) cause female infertility characterized by oocyte maturation arrest. Elife. 2023;12:e85649. https://doi.org/10.7554/eLife.85649.

103.

Coulam CB, Bustillo M, Schulman JD. Empty follicle syndrome. Fertil Steril. 1986;46(6):1153–5. https://doi.org/10.1016/s0015-0282(16)49898-5.CrossRefPubMed

104.

Revelli A, Carosso A, Grassi G, Gennarelli G, Canosa S, Benedetto C. Empty follicle syndrome revisited: definition, incidence, aetiology, early diagnosis and treatment. Reprod Biomed Online. 2017;35:132–8. https://doi.org/10.1016/j.rbmo.2017.04.012.CrossRefPubMed

105.

Onalan G, Pabuccu R, Onalan R, Ceylaner S, Selam B. Empty follicle syndrome in two sisters with three cycles:case report. Hum Reprod. 2003;18(9):1864–7. https://doi.org/10.1093/humrep/deg371.CrossRefPubMed

106.

Yariz K0, Walsh T, Uzak A, Spiliopoulos M, Duman D, Onalan G, King MC, Tekin M. Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome. Fertil steril. 2011;96(2):e125—30. https://doi.org/10.1016/j.fertnstert.2011.05.057

107.

Zhou Z, Ni CX, Wu L, Chen BB, Xu Y, Zhang ZH, Mu J, Li B, Yan Z, Fu J, Wang WJ, Zhao L, Dong J, Sun XX, Kuang YP, Sang Q, Wang L. Novel mutations in ZP1, ZP2, and ZP3 cause female infertility due to abnormal zona pellucida formation. Hum Geneti. 2019;138(4):327–37. https://doi.org/10.1007/s00439-019-01990-1.CrossRef

108.

Yang P, Chen T, Liu Y, Hou Z, Wu K, Cao Y, Zhang J, Wang Z, Zhao H. The critical role of ZP genes in female infertility characterized by empty follicle syndrome and oocyte degeneration. Fertil Steril. 2021;115(5):1259–69. https://doi.org/10.1016/j.fertnstert.2020.11.003.

109.

Jia W, Xi Q, Zhu L, Luo Y, Li Z, Hou M, Zhang D, Yang X, Hu J, Jin L, Zhang X. Novel mutations in ZP2 and ZP3 cause female infertility in three patients. J Assist Reprod Genet. 2022;39(5):1205–15. https://doi.org/10.1007/s10815-022-02466-4.

110.

Sun YM, Zeng Y, Chen H, Zhou Z, Fu J, Sang Q, Wang L, Sun XX, Chen BB, Xu CJ. A novel homozygous variant in ZP2 causes abnormal zona pellucida formation and female infertility. J Assist Reprod Genet. 2021;38(5):1239–45. https://doi.org/10.1007/s10815-021-02107-2.

111.

Zhang D, Zhu L, Liu Z, Ren X, Yang X, Li D, Luo Y, Peng X, Zhou X, Jia W, Hou M, Li Z, Jin L, Zhang X. A novel mutation in ZP3 causes empty follicle syndrome and abnormal zona pellucida formation. J Assist Reprod Genet. 2021;38(1):251–9. https://doi.org/10.1007/s10815-020-01995-0.CrossRefPubMed

112.

Chen YZ, Wang ZS, Wu YR, He WB, Du J, Cai SF, Gong F, Lu GX, Lin G, Dai C. Case report: A novel heterozygous ZP3 deletion associated with empty follicle syndrome and abnormal follicular development. Frontiers in Genetics. 2021;12:690070. https://doi.org/10.3389/fgene.2021.690070.

113.

Sun LW, Tong KY, Liu WW, Tian Y, Liu DY, Huang GN, Li JY. Novel variants in ZP1, ZP2 and ZP3 associated with empty follicle syndrome and abnormal zona pellucida. Reprod Biomed Online. 2023;46(5):847–55. https://doi.org/10.1016/j.rbmo.2023.01.010.CrossRefPubMed

114.

Shen Y, Guo J, Zhang XG, Wang X, Zhu SM, Chen DJ, Xiong W, Lu GX, Liu XJ, Dai C, Gong F, Wang Y, Lin G, Wang ZB, Xu WM. Identification of a heterozygous variant of ZP2 as a novel cause of empty follicle syndrome in humans and mice. Hum Reprod. 2022;37(4):859–72. https://doi.org/10.1093/humrep/deac026.CrossRefPubMed

115.

Chen TL, Bian YH, Liu XM, Zhao SG, Wu KL, Yan L, Li M, Yang ZL, Liu HB, Zhao H, Chen ZJ. A recurrent missense mutation in ZP3 causes empty follicle syndrome and female infertility. Am J Hum Genet. 2017;101(3):459–65. https://doi.org/10.1016/j.ajhg.2017.08.001.CrossRefPubMedPubMedCentral

116.

Dahl G. The Pannexin1 Membrane Channel: Distinct Conformations and Functions. FEBS Lett. 2018;592(19):3201–9. https://doi.org/10.1002/1873-3468.13115.CrossRefPubMed

117.

Furlow PW, Zhang S, Soong TD, Halberg N, Goodarzi H, Mangrum C, Wu YGO, Elemento O, Tavazoie SF. Mechanosensitive pannexin-1 channels mediate microvascular metastatic cell survival. Nat Cell Biol. 2015;17(7):943–52. https://doi.org/10.1038/ncb3194.CrossRefPubMedPubMedCentral

118.

Karatas H, Erdener SE, Gursoy-Ozdemir Y, Lule S, Eren-Kocak E, Sen ZD, Dalkara T. Spreading depression triggers headache by activating neuronal Panx1 channels. Science. 2013;339(6123):1092–5. https://doi.org/10.1126/science.1231897.CrossRefPubMed

119.

Sang Q, Zhang ZH, Shi JZ, Sun XX, Li B, Yan Z, Xue SG, Ai A, Lyu QF, Li W, Zhang JL, Wu L, Mao XY, Chen BB, Mu J, Li QL, Du J, Sun Q, Jin L, He L, Zhu SJ, Kuang YP, Wang L. A pannexin 1 channelopathy causes human oocyte death. Sci Transl Med. 2019;11(485):eaav8731. https://doi.org/10.1126/scitranslmed.aav8731.

120.

Wang WJ, Qu RG, Dou Q, Wu FY, Wang WJ, Chen BB, Mu J, Zhang ZH, Zhao L, Zhou Z, Dong J, Zeng Y, Liu RY, Du J, Zhu SJ, Li QL, He L, Jing L, Wang L, Sang Q. Homozygous variants in PANX1 cause human oocyte death and female infertility. Eur J Hum Genet. 2021;29(9):1396–404. https://doi.org/10.1038/s41431-020-00807-4.CrossRefPubMedPubMedCentral

121.

Wu XW, Liu PP, Zou Y, Xu DF, Zhang ZQ, Cao LY, Fan L, Xia LZ, Huang JL, Chen J, Xin CL, Huang ZH, Tan J, Wu QF, Li ZM. A novel heterozygous variant in PANX1 is associated with oocyte death and female infertility. J Assist Reprod Genet. 2022;39(8):1901–8. https://doi.org/10.1007/s10815-022-02566-1.CrossRefPubMedPubMedCentral

122.

Zhou JP, Wang M, Hu J, Li Z, Zhu LX, Jin L. A novel heterozygous variant in PANX1 causes primary infertility due to oocyte death. J Assist Reprod Genet. 2023;40(1):65–73. https://doi.org/10.1007/s10815-022-02666-y.CrossRefPubMed

123.

Zhao HB, Zhu Y, Liang C, Chen J. Pannexin 1 deficiency can induce hearing loss. Biochem Biophys Res Commun. 2015;463(1–2):143–7. https://doi.org/10.1016/j.bbrc.2015.05.049.CrossRefPubMedPubMedCentral

124.

Penuela S, Simek J, Thompson RJ. Regulation of pannexin channels by post-translational modifications. FEBS Lett. 2014;588(8):1411–5. https://doi.org/10.1016/j.febslet.2014.01.028.CrossRefPubMed

125.

Ikawa M, Inoue N, Benham AM Okabe M. Fertilization: a sperm's journey to and interaction with the oocyte. J Clin Invest. 2010;120(4):984–94. https://doi.org/10.1172/JCI41585.

126.

Bianchi E, Wright GJ. Sperm Meets Egg: The Genetics of Mammalian Fertilization. Annu Rev Genet. 2016;50:93–111. https://doi.org/10.1146/annurevgenet-121415-121834.CrossRefPubMed

127.

van der Westerlaken L, Helmerhorst F, Dieben S, Naaktgeboren N. Intracytoplasmic sperm injection as a treatment for unexplained total fertilization failure or low fertilization after conventional in vitro fertilization. Fertil Steril. 2005;83(3):612–7. https://doi.org/10.1016/j.fertnstert.2004.08.029.CrossRefPubMed

128.

Aydin H, Sultana A, Li S, Thavalingam A, Lee JE. Molecular architecture of the human sperm IZUMO1 and egg JUNO fertilization complex. Nature. 2016;534(7608):562–5. https://doi.org/10.1038/nature18595.CrossRefPubMedPubMedCentral

129.

Yuan P, Zheng LY, Liang H, Lin QY, Ou SB, Zhu YQ, Lai LH, Zhang QX, He ZY, Wang WJ. Novel mutations in the PLCZ1 gene associated with human low or failed fertilization. Mol Genet Genomic Med. 2020;8(10):e1470. https://doi.org/10.1002/mgg3.1470.

130.

Dai J, Zhang TL, Guo J, Zhou QW, Gu YF, Zhang J, Hu L, Zong YR, Song J, Zhang SP, Dai C, Gong F, Lu GX, Zheng W, Lin G. Homozygous pathogenic variants in ACTL9 cause fertilization failure and male infertility in humans and mice. Am J Hum Genet. 2021;108(3):469–81. https://doi.org/10.1016/j.ajhg.2021.02.004.CrossRefPubMedPubMedCentral

131.

Zhang XJ, Hu CY, Wu LM. Advances in the study of genetic factors and clinical interventions for fertilization failure. J Assist Reprod Genet. 2023;40(8):1787–850. https://doi.org/10.1007/s10815-023-02810-2.CrossRefPubMedPubMedCentral

132.

Han SJ, Chen R, Paronetto MP, Conti M. Wee1B is an oocyte-pecific kinase involved in the control of meiotic arrest in the mouse. Curr Biol. 2005;15(18):1670–6. https://doi.org/10.1016/j.cub.2005.07.056.CrossRefPubMed

133.

Sang Q, Li B, Kuang YP, Wang XQ, Zhang ZH, Chen BB, Wu L, Lyu QF, Fu YL, Yan Z, Mao XY, Xu Y, Mu J, Li QL, Jin L, He L, Wang L. Homozygous mutations in WEE2 cause fertilization failure and female infertility. Am J Hum Genet. 2018;102(4):649–57. https://doi.org/10.1016/j.ajhg.2018.02.015.CrossRefPubMedPubMedCentral

134.

Yang X, Shu L, Cai L, Sun X, Cui Y, Liu J. Homozygous missense mutation Arg207Cys in the WEE2 gene causes female infertility and fertilization failure. J Assist Reprod Genet. 2019;36(5):965–71. https://doi.org/10.1007/s10815-019-01418-9.CrossRefPubMedPubMedCentral

135.

Dai J, Zheng W, Dai C, Guo J, Lu CF, Gong F, Li Y, Zhou QW, Lu GX, Lin G. New biallelic mutations in WEE2: expanding the spectrum of mutations that cause fertilization failure or poor fertilization. Fertil Steril. 2019;111(3):510–8. https://doi.org/10.1016/j.fertnstert.2018.11.013.CrossRefPubMed

136.

Zhou XP, Zhu LX, Hou MQ, Wu YL, Li Z, Wang JR, Liu ZX, Zhang DZ, Jin L, Zhang XQ. Novel compound heterozygous mutations in WEE2 causes female infertility and fertilization failure. J Assist Reprod Genet. 2019;36(9):1957–62. https://doi.org/10.1007/s10815-019-01553-3.CrossRefPubMedPubMedCentral

137.

Tian Y, Wang GJ, Wang J, Mu XH, Chen HX, Song XR, Bai XH. Novel compound heterozygous mutation in WEE2 is associated with fertilization failure: case report of an infertile woman and literature review. BMC Womens Health. 2020;20(1):246. https://doi.org/10.1186/s12905-020-01111-5.CrossRefPubMedPubMedCentral

138.

Wang AC, Huang S, Liu M, Wang BS, Wu FX, Zhu DY, Zhao XY. Clinical exome sequencing identifies novel compound heterozygous mutations of the WEE2 gene in primary infertile women with fertilization failure. Gynecol Endocrinol. 2021;37(12):1096–101. https://doi.org/10.1080/09513590.2021.1916458.CrossRefPubMed

139.

Jin JM, Tong XM, Zhang YL, Yang WJ, Ma YR, Ren PP, Zhou F, Zhang SY. Novel WEE2 compound heterozygous mutations identified in patients with fertilization failure or poor fertilization. J Assist Reprod Genet. 2021;38(11):2861–9. https://doi.org/10.1007/s10815-021-02285-z.CrossRefPubMedPubMedCentral

140.

Weiner HS, Ulrich ND, Hipp L, Hammoud A, Xu M, Schon SB. Total fertilization failure with in vitro fertilization-intracytoplasmic sperm injection related to WEE2 mutation highlights emerging importance of genetic causes of in vitro fertilization failure. F S Rep. 2022;3(4):355–60. https://doi.org/10.1016/j.xfre.2022.08.007.CrossRefPubMedPubMedCentral

141.

Guo HY, Wu HB, Yan Z, Yin MR, Wu L, Li B. Novel WEE2 homozygous mutations c.1346C>T and c.949A>T identified in primary infertile women due to unexplained fertilization failure. Clin Genet. 2023;104(6):700-4. https://doi.org/10.1111/cge.14429.

142.

He WN, Meng J. CDC20: a novel therapeutic target in cancer. Am J Transl Res. 2023;15(2):678–93. eCollection 2023.

143.

Kimata Y. APC/C ubiquitin ligase: coupling cellular differentiation to G1/G0 phase in multicellular systems. Trends Cell Biol. 2019;29(7):591–603. https://doi.org/10.1016/j.tcb.2019.03.001.CrossRefPubMed

144.

Heim A, Tischer T, Mayer TU. Calcineurin promotes APC/C activation at meiotic exit by acting on both XErp1 and Cdc20. EMBO Rep. 2018;19(12):e46433. https://doi.org/10.15252/embr.201846433.

145.

Jin F, Hamada M, Malureanu L, Jeganathan KB, Zhou W, Morbeck DE, van Deursen JM. Cdc20 is critical for meiosis I and fertility of female mice. PLoS Genet. 2010;6(9):e1001147. https://doi.org/10.1371/journal.pgen.1001147.

146.

Malureanu L, Jeganathan KB, Jin F, Baker DJ, van Ree JH, Gullon O, Chen ZY, Henley JR, van Deursen JM. Cdc20 hypomorphic mice fail to counteract de novo synthesis of cyclin B1 in mitosis. J Cell Biol. 2010;191(2):313–29. https://doi.org/10.1083/jcb.201003090.CrossRefPubMedPubMedCentral

147.

Li LW, Fan LQ, Peng NN, Yang LH, Mou LS, Huang WR. R383C mutation of human CDC20 results in idiopathic non-obstructive azoospermia. Oncotarget. 2017;8(59):99816–24. https://doi.org/10.18632/oncotarget.21071.CrossRefPubMedPubMedCentral

148.

Zhao L, Xue SG, Yao ZY, Shi JZ, Chen BB, Wu L, Sun LH, Xu Y, Yan Z, Mao XY, Fu J, Zhang ZH, Mu J, Wang WJ, Du J, Liu S, Dong J, Wang WJ, Li QL, He L, Jin L, Liang XZ, Kuang YP, Sun XX, Wang L, Sang Q. Biallelic mutations in CDC20 cause female infertility characterized by abnormalities in oocyte maturation and early embryonic development. Protein Cell. 2020;11(12):921–7. https://doi.org/10.1007/s13238-020-00756-0.CrossRefPubMedPubMedCentral

149.

Zhao L, Guan YH, Meng QX, Wang WJ, Wu L, Chen BB, Hu JJ, Zhu JW, Zhang ZH, Mu J, Chen Y, Sun YM, Wu TY, Wang WJ, Zhou Z, Dong J, Zeng Y, Liu RY, Li QL, Du J, Kuang YP, Sang Q, Wang L. Identification of novel mutations in CDC20: expanding the mutational spectrum for female infertility.Front Cell Dev Biol. 2021;9:647130. https://doi.org/10.3389/fcell.2021.647130.

150.

Huang LL, Wang FS, Kong S, Wang Y, Song GJ, Lu FT, Ji JJ, Luo LH, Tong XH. Novel Mutations in CDC20 Are Associated with Female Infertility Due to Oocyte Maturation Abnormality and Early Embryonic Arrest. Reprod Sci. 2021;28(7):1930–8. https://doi.org/10.1007/s43032-021-00524-3.CrossRefPubMed

151.

Quesada V, Sanchez LM, Alvarez J, Lopez-Otin C. Identification and characterization of human and mouse ovastacin: a novel metalloproteinase similar to hatching enzymes from arthropods, birds, amphibians, and fish. J Biol Chem. 2004;279(25):26627–34. https://doi.org/10.1074/jbc.M401588200.CrossRefPubMed

152.

Burkart AD, Xiong B, Baibakov B, Jiménez-Movilla M, Dean J. Ovastacin, a cortical granule protease, cleaves ZP2 in the zona pellucida to prevent polyspermy. J Cell Biol. 2012;197(1):37–44. https://doi.org/10.1083/jcb.201112094.CrossRefPubMedPubMedCentral

153.

Floehr J, Dietzel E, Schmitz C, Chappell A, Jahnen-Dechent W. Down-regulation of the liver-derived plasma protein fetuin-B mediates reversible female infertility. Mol Hum Reprod. 2017;23(1):34–44. https://doi.org/10.1093/molehr/gaw068.CrossRefPubMed

154.

Körschgen H, Kuske M, Karmilin K, Yiallouros I, Balbach M, Floehr J, Wachten D, Jahnen-Dechent W, Stöcker W. Intracellular activation of ovastacin mediates pre-fertilization hardening of the zona pellucida. Mol Hum Reprod. 2017;23(9):607–16. https://doi.org/10.1093/molehr/gax040.CrossRefPubMedPubMedCentral

155.

Maddirevula S, Coskun S, AI-Qahtani M, Aboyousef O, Alhassan S, Aldeery M, Alkuraya FS. ASTL is mutated in female infertility. Hum Genet. 2022;141(1):49-54. https://doi.org/10.1007/s00439-021-02388-8.

156.

Zeng Y, Chen BB, Sun YM, Yang AJ, Wu L, Li B, Mu J, Zhang ZH, Wang WJ, Zhou Z, Dong J, Liu RY, Luo YX, Sun XX, Sang Q, Kuang YP, Wang L. Bi-allelic variants in ASTL cause abnormal fertilization or oocyte maturation defects. Hum Mol Genet. 2023;32(14):2326–34. https://doi.org/10.1093/hmg/ddad070.CrossRefPubMed

157.

Suri K, Rajput N, Sharma P, Omble AD, Kulkarni K, Gahlay GK. In silico identification and characterization og the SNPs in the human ASTL gene and their probable role in female infertility. Front Cell Dev Biol. 2023;8(11):1151672. https://doi.org/10.3389/fcell.2023.1151672.CrossRef

158.

Bebbere D, Masala L, Albertini DF, Ledda S. The subcortical maternal complex: multiple functions for one biological structure? J Assist Reprod Genet. 2016;33(11):1431–8. https://doi.org/10.1007/s10815-016-0788-z.CrossRefPubMedPubMedCentral

159.

Yu XJ, Yi ZH, Gao Z, Qin DD, Zhai YH, Chen X, Ou-Yang YC, Wang ZB, Zheng P, Zhu MS, Wang HB, Sun QY, Dean J, Li L. The subcortical maternal complex controls symmetric division of mouse zygotes by regulating F-actin dynamics. Nat Commun. 2014;5:4887. https://doi.org/10.1038/ncomms5887.CrossRefPubMed

160.

Lin J, Xu H, Chen BB, Wang WJ, Wang L, Sun XX, Sang Q. Expanding the genetic and phenotypic spectrum of female infertility caused by TLE6 mutations. J Assist Reprod Genet. 2020;37(2):437–42. https://doi.org/10.1007/s10815-019-01653-0.CrossRefPubMedPubMedCentral

161.

Wang XQ, Song D, Mykytenko D, Kuang YP, Lv QF, Li B, Chen BB, Mao XY, Xu Y, Zukin V, Mazur P, Mu J, Yan Z, Zhou Z, Li QL, Liu SY, Jin L, He L, Sang Q, Sun ZG, Dong X, Wang L. Novel mutations in genes encoding subcortical maternal complex proteins may cause human embryonic developmental arrest. Reprod BioMed Online. 2018;36(6):698–704. https://doi.org/10.1016/j.rbmo.2018.03.009.CrossRefPubMed

162.

Alazami AM, Awad SM, Coskun S, Al-Hassan S, Hijazi H, Abdulwahab FM, Poizat C, Alkuraya FS. TLE6 mutation causes the earliest known human embryonic lethality. Genome Biol. 2015;16:240. https://doi.org/10.1186/s13059-015-0792-0.CrossRefPubMedPubMedCentral

163.

Mao B, Jia XL, Liu HF, Xu XJ, Zhao XD, Yuan Y, Li HX, Ma XL, Zhang LL. A novel TLE6 mutation, c.541+1G>A, identified using whole-exome sequencing in a Chinese family with female infertility. Mol Genet Genomic Med. 2021;9(8):e1743. https://doi.org/10.1002/mgg3.1743.CrossRefPubMedPubMedCentral

164.

Zhang MY, Liu CY, Chen BL, Lv MR, Zou HJ, Liu YJ, Gao Y, Wang TJ, Xing Q, Zhu YT, Wu H, Zhang ZG, Zhou P, Wei ZL, He XJ, Xu YP, Cao YX. Identification of novel biallelic TLE6 variants in female infertility with preimplantation embryonic. Front Genet. 2021;12:666136. https://doi.org/10.3389/fgene.2021.666136.CrossRefPubMedPubMedCentral

165.

Liu J, Tan ZJ, He J, Jin TT, Han YY, Hu L, Huang SW. Two novel mutations in PADI6 and TLE6 genes cause female infertility due to arrest in embryonic development. J Assist Reprod Genet. 2021;38(6):1551–9. https://doi.org/10.1007/s10815-021-02194-1.CrossRefPubMedPubMedCentral

166.

Zheng W, Hu HL, Dai J, Zhang SP, Gu YF, Dai C, Guo J, Xu XX, Li Y, Zhang SJ, Hu L, Gong F, Lu GX, Lin G. Expanding the genetic and phenotypic spectrum of the subcortical maternal complex genes in recurrent preimplantation embryonic arrest. Clin Genet. 2021;99(2):286–91. https://doi.org/10.1111/cge.13858.CrossRefPubMed

167.

Akbari M, Mohebi M, Berjis K, Ghahremani A, Modarressi MH, Ghafouri-Fard S. A novel variant in TLE6 is associated with embryonic developmental arrest (EDA) in familial female infertility. Sci Rep. 2022;12(1):17664. https://doi.org/10.1038/s41598-022-22687-y.CrossRefPubMedPubMedCentral

168.

Duncan FE, Padilla-Banks E, Bernhardt ML, Ord TS, Jefferson WN, Moss SB, Williams CJ. Transducin-like enhancer of split-6(TLE6) is a substrate of protein kinase A activity during mouse oocyte maturation. Biol Reprod. 2014;90(3):63. https://doi.org/10.1095/biolreprod.113.112565.CrossRefPubMedPubMedCentral

169.

Yan Z, Fan Y, Wang F, Yan ZG, Li MH, Ouyang J, Wu L, Yin MR, Zhao JL, Kuang YP, Li B, Lyu QF. Novel mutations in PLCZ1 cause male infertility due to fertilization failure or poor fertilization. Hum Reprod. 2020;35(2):472–81. https://doi.org/10.1093/humrep/dez282.CrossRefPubMed

170.

Yuan P, Yang C, Ren YX, Yan J, Nie YL, Yan LY, Qiao J. A novel homozygous mutation of phospholipase C zeta leading to defective human oocyte activation and fertilization failure. Hum Reprod. 2020;35(4):977–85. https://doi.org/10.1093/humrep/dez293.CrossRefPubMed

171.

Nozawa K, Satouh Y, Fujimoto T, Oji A, Ikawa M. Sperm-borne phospholipase C zeta-1 ensures monospermic fertilization in mice. Sci Rep. 2018;8(1):1315. https://doi.org/10.1038/s41598-018-19497-6.CrossRefPubMedPubMedCentral

172.

Xin AJ, Qu RG, Chen GW, Zhang L, Chen JL, Tao CQ, Fu J, Tang JN, Ru YF, Chen Y, Peng XD, Shi HJ, Zhang F, Sun XX. Disruption in ACTL7A cuses acrosomal ultrastructural defects in human and mouse sperm as a novel male factor inducing early embryonic arrest. Sci Adv. 2020;6(35):eaaz4796. https://doi.org/10.1126/sciadv.aaz4796.CrossRefPubMedPubMedCentral

173.

Lin YY, Huang Y, Li BY, Zhang T, Niu YC, Hu SG, Ding Y, Yao GX, Wei Z, Yao N, Yao YJ, Lu Y, He YQ, Zhu QL, Zhang L, Sun Y. Novel mutations in PLCZ1 lead to early embryonic arrest as a male factor. Front Cell Dev Biol. 2023;11:1193248. https://doi.org/10.3389/fcell.2023.1193248.CrossRefPubMedPubMedCentral

174.

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. 1890;2023(378):20220242. https://doi.org/10.1098/rstb.2022.0242.CrossRef

175.

Tong XM, Jin JM, Hu ZH, Zhang YY, Fan HY, Zhang YL, Zhang SY. Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest. Hum Mutat. 2022;43(12):1909–20. https://doi.org/10.1002/humu.24448.CrossRefPubMedPubMedCentral

176.

Sha QQ, Zhang J, Fan HY. A story of birth and death: mRNA translation and clearance at the onset of maternal-to-zygotic transition in mammals. Biol Reprod. 2019;101(3):579–90. https://doi.org/10.1093/biolre/ioz012.CrossRefPubMed

177.

Clift D, Schuh M. Restarting life: fertilization and the transition from meiosis to mitosis. Nat Rev Mol Cell Biol. 2013;14(9):549–62. https://doi.org/10.1038/nrm3643.CrossRefPubMedPubMedCentral

178.

Horiuchi M, Takeuchi K, Noda N, Muroya N, Suzuki T, Nakamura T, Kawamura-Tsuzuku J, Takahasi K, Yamamoto T, Inagaki F. Structural basis for the antiproliferative activity of the Tob-hCaf1 complex. J Biol Chem. 2009;284(19):13244–55. https://doi.org/10.1074/jbc.M809250200.CrossRefPubMedPubMedCentral

179.

Yu C, Ji SY, Sha QQ, Dang Y, Zhou JJ, Zhang YL, Liu Y, Wang ZW, Hu B, Sun QY, Sun SC, Tang FC, Fan HY. BTG4 is a meiotic cell cycle-coupled maternal-zygotic-transition licensing factor in oocytes. Nat Struct Mol Biol. 2016;23(5):387–94. https://doi.org/10.1038/nsmb.3204.CrossRefPubMed

180.

Zheng W, Zhou Z, Sha QQ, Niu XL, Sun XX, Shi JZ, Zhao L, Zhang SP, Dai J, Cai SF, Meng F, Hu L, Gong F, Li XR, Fu J, Shi R, Lu GX, Chen BB, Fan HY, Wang L, Lin G, Sang Q. Homozygous mutations in BTG4 cause zygotic cleavage failure and female infertility. Am J Hum Genet. 2020;107(1):24–33. https://doi.org/10.1016/j.ajhg.2020.05.010.CrossRefPubMedPubMedCentral

181.

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(12):3261–366. https://doi.org/10.1007/s10815-021-02340-9.CrossRefPubMedPubMedCentral

182.

Wang YF, Qin QT, Yang Y, Dong S, Liu YT, Wang ML, Zou YX, Gong YQ, Zhou HB, Jiang BC. A novel homozygous C-terminal deletion in BTG4 causes zygotic cleavage failure and female infertility. J Assist Reprod Genet. 2023;40(1):75–81. https://doi.org/10.1007/s10815-022-02664-0.CrossRefPubMed

183.

Li L, Baibakov B, Dean J. A subcortical maternal complex essential for preimplantation mouse embryogenesis. Dev Cell. 2008;15(3):416–25. https://doi.org/10.1016/j.devcel.2008.07.010.CrossRefPubMedPubMedCentral

184.

Massana MT, Rodriguez A, Vassena R. Exonic genetic variants associated with unexpected fertilization failure and zygotic arrest after ICSI: a systematic review. Zygote. 2023;31(4):316–41. https://doi.org/10.1017/S096719942300014X.CrossRef

185.

Lu X, Gao Z, Qin DD, Li L. A maternal functional module in the mammalian oocyte-to-embryo transition. Trends Mol Med. 2017;23(11):1014–23. https://doi.org/10.1016/j.molmed.2017.09.004.CrossRefPubMed

186.

Tashiro F, Kanai-Azuma M, Miyazaki S, Kato M, Tanaka T, Toyoda S, Yamato E, Kawakami H, Miyazaki T, Miyazaki J. Maternal-effect gene Ces5/Ooep/ Moep19/Floped is essential for oocyte cytoplasmic lattice formation and embryonic development at the maternal-zygotic stage transition. Genes Cells. 2010;15(8):813–28. https://doi.org/10.1111/j.1365-2443.2010.01420.x.CrossRefPubMed

187.

Qian JH, Nguyen NMP, Rezaei M, Huang B, Tao Y, Zhang X, Cheng Q, Yang H, Asangla A, Majewski J, Slim R. Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles. Eur J Hum Genet. 2018;26(7):1007–13. https://doi.org/10.1038/s41431-018-0141-3.CrossRefPubMedPubMedCentral

188.

Mondal S, Thompson PR. Protein arginine deiminases (PADs): biochemistry and chemical biology of protein citrullination. Acc Chem Res. 2019;52(3):818–32. https://doi.org/10.1021/acs.accounts.9b00024.CrossRefPubMedPubMedCentral

189.

Zhang CX, Wang M, Li YS, Zhang Y. Profiling and functional characterization of maternal mRNA translation during mouse maternal-to-zygotic transition. Sci Adv. 2022;8(5):eabj3967. https://doi.org/10.1126/sciadv.Abj3967.CrossRefPubMedPubMedCentral

190.

Esposito G, Vitale AM, Leijten FPJ, Strik AM, Koonen-Reemst AMCB, Yurttas P, Robben TJAA, Coonrod S, Gossen JA. Peptidylarginine deiminase (PAD) 6 is essential for oocyte cytoskeletal sheet formation and female fertility. Mol Cell Endocrinol. 2007;273(1–2):25–31. https://doi.org/10.1016/j.mce.2007.05.005.CrossRefPubMed

191.

Jentoft IMA, Bauerlein FJB, Welp LM, Cooper BH, Petrovic A, So C, Penir SM, Politi AZ, Horokhovskyi Y, Takala L, Eckel H, Moltrecht R, Lenart P, Cavazza T, Liepe J, Brose N, Urlaub H, Busnadiego RF, Schuh M. Mammalian oocytes store proteins for the early embryo on cytoplasmic lattices. Cell. 2023;186(24):5308-27.e25. https://doi.org/10.1016/j.cell.2023.10.003.CrossRefPubMed

192.

McGaughey RW, Capco DG. Specialized cytoskeletal elements in mammalian eggs: structural and biochemical evidence for their composition. Cell Motil Cytoskeleton. 1989;13(2):104–11. https://doi.org/10.1002/cm.970130205.CrossRefPubMed

193.

Schwarz SM, Gallicano GI, McGaughey RW, Capco DG. A role for intermediate filaments in the establishment of the primitive epithelia during mammalian embryogenesis. Mech Dev. 1995;53(3):305–21. https://doi.org/10.1016/0925-4773(95)00440-8.CrossRefPubMed

194.

Xu Y, Shi YL, Fu J, Yu M, Feng RZ, Sang Q, Liang B, Chen BB, Qu RG, Li B, Yan Z, Mao XY, Kuang YP, Jin L, He L, Sun XX, Wang L. Mutations in PADI6 cause female infertility characterized by early embryonic arrest. Am J of Hum Genet. 2016;99(3):744–52. https://doi.org/10.1016/j.ajhg.2016.06.024.CrossRef

195.

Zhang M, Bi X, Ge B, Wei H, Gong L, Wang J, Wang B. Case report: human early embryonic arrest in a consanguineous Chinese family caused by a novel missense variant of PADI6. QJM. 2023;116(9):784–6. https://doi.org/10.1093/qjmed/hcad102.CrossRefPubMed

196.

Zheng W, Chen LB, Dai J, Dai C, Guo J, Lu CF, Gong F, Lu GX, Lin G. New biallelic mutations in PADI6 cause recurrent preimplantation embryonic arrest characterized by direct cleavage. J Assist Reprod Genet. 2020;37(1):205–12. https://doi.org/10.1007/s10815-019-01606-7.CrossRefPubMed

197.

Dong J, Fu J, Yan Z, Li L, Qiu Y, Zeng Y, Liu RY, Chen BB, Shi R, Diao FY, Wang L, Shi QW, Sang Q. Novel biallelic mutations in PADI6 in patients with early embryonic arrest. J Hum Genet. 2022;67(5):285–93. https://doi.org/10.1038/s10038-021-00998-8.CrossRefPubMed

198.

Wang XX, Zhu HM, He Y, Zeng J, Zhao J, Xia QQ, Wu L, Yao ZY, Li YP. A novel homozygous mutation in the PADI6 gene causes early embryo arrest. Reprod Health. 2022;19(1):190. https://doi.org/10.1186/s12978-022-01495-7.CrossRefPubMedPubMedCentral

199.

Xu Y, Wang RX, Pang Z, Wei ZY, Sun LH, Li S, Wang GH, Liu Y, Zhou YW, Ye HJ, Jin LP, Xue SG. Novel homozygous PADI6 variants in infertile females with early embryonic arrest. Front Cell Dev Biol. 2022;10:819667. https://doi.org/10.3389/fcell.2022.819667.CrossRefPubMedPubMedCentral

200.

Maddirevula S, Coskun S, Awartani K, Alsaif H, Abdulwahab FM, Alkuraya FS. The human knockout phenotype of PADI6 is female sterility caused by cleavage failure of their fertilized eggs. Clin Genet. 2017;91(2):344–5. https://doi.org/10.1111/cge.12866.CrossRefPubMed

201.

Zhang T, Liu P, Yao GF, Zhang X, Cao CJ. A complex heterozygous mutation in PADI6 causes early embryo arrest: a case report. Front Genet. 2023;13:1104085. https://doi.org/10.3389/fgene.2022.1104085.CrossRefPubMedPubMedCentral

202.

Rezaei M, Suresh B, Bereke E, Hadipour Z, Aguinaga M, Qian JH, Bagga R, Fadaei M, Hemida R, Jagadeesh S, Majewski J, Slim R. Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failure. Clin Genet. 2021;99(6):823–8. https://doi.org/10.1111/cge.13941.CrossRefPubMed

203.

Monk D, Delgado MS, Fisher R. NLRPs, the subcortical maternal complex and genomic imprinting. Reproduction. 2017;154(6):R161–70. https://doi.org/10.1530/REP-17-0465.CrossRefPubMed

204.

Mahadevan S, Sathappan V, Utama B, lorenzo I, Kaskar K, Van den Veyver IB. Maternally expressed NLRP2 links the subcortical maternal complex (SCMC) to fertility, embryogenesis and epigenetic reprogramming. Sci Rep. 2017;7:44667. https://doi.org/10.1038/srep44667

205.

Mu J, Wang WJ, Chen BB, Wu L, Li B, Mao XY, Zhang ZH, Fu J, Kuang YP, Sun XX, Li QL, Jin L, He L, Sang Q, Wang L. Mutations in NLRP2 and NLRP5 cause female infertility characterised by early embryonic arrest. J Med Genet. 2019;56(7):471–80. https://doi.org/10.1136/jmedgenet-2018-105936.CrossRefPubMed

206.

Duéñez-Guzmán EA, Haig D. The evolution of reproduction-related NLRP genes. J Mol Evol. 2014;78(3–4):194–201. https://doi.org/10.1007/s00239-014-9614-3.CrossRefPubMed

207.

Han J, Zhang NN, Cao QQ, Shi XD, Wang CJ, Rui XM, Ding J, Zhao C, Zhang JQ, Ling XF, Li H, Guan YC, Meng QX, Huo R. NLRP7 participates in the human subcortical maternal complex and its variants cause female infertility characterized by early embryo arrest. J Mol Med (Berl). 2023;101(6):717–29. https://doi.org/10.1007/s00109-023-02322-7.CrossRefPubMed

208.

Li M, Jia M, Zhao X, Shi R, Xue X. A new NLRP5 mutation causes female infertility and total fertilization failure. Gynecol Endocrinol. 2021;37(3):283–4. https://doi.org/10.1080/09513590.2020.1832069.CrossRefPubMed

209.

Docherty E, Rezwan FE, Poole RL, Turner CL, Kivuva E, Maher ER, Smithson SF, Hamilton-Shield JP, Patalan M, Gizewska M, Peregud-Pogorzelski J, Beygo J, Buiting K, Horsthemke B, Soellner L, Begemann M, Eggermann T, Baple E, Mansour S, Temple IK, Mackay DJ. Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans. Nat Commun. 2015;6:8086. https://doi.org/10.1038/ncomms9086.CrossRefPubMed

210.

Xu Y, Qian Y, Liu Y, Wang Q, Wang R, Zhou Y, Zhang C, Pang Z, Ye H, Xue S, Sun L. A novel homozygous variant in NLRP5 is associate with human early embryonic arrest in a consanguineous Chinese family. Clin Genet. 2020;98(1):69–73. https://doi.org/10.1111/cge.13744.CrossRefPubMed

211.

Fernandes R, Tsuda C, Perumalsamy AL, Naranian T, Chong J, Acton BM, Tong ZB, Nelson LM, Jurisicova A. NLRP5 mediates mitochondrial function in mouse oocytes and embryos. Biol Reprod. 2012;86(5):138,1–10. https://doi.org/10.1095/biolreprod.111.093583

212.

Kuchmiy AA, D’Hont J, Hochepied T, Lamkanfi M. NLRP2 controls age-associated maternal fertility. J Exp Med. 2016;213(13):2851–60. https://doi.org/10.1084/jem.20160900.CrossRefPubMedPubMedCentral

213.

Kocabey M, Gulhan I, Koc A, Cankaya T, Karatasli V, Ileri A. High risk of gestational trophoblastic neoplasia development in recurrent hydatidiform moles with NLRP7 pathogenic variations. Balkan J Med Genet. 2023;25(2):45–50. https://doi.org/10.2478/bjmg-2022-0025.CrossRefPubMedPubMedCentral

214.

Sills ES, Obregon-Tito AJ, Gao H, McWilliams TK, Gordon AT, Adams CA, Slim R. Pathogenic variant in NLRP7 (19q13.42) associated with recurrent gestational trophoblastic disease: data from early embryo development observed during in vitro fertilization. Clin Exp Reprod Med. 2017;44(1):40–6. https://doi.org/10.5653/cerm.2017.44.1.40.CrossRefPubMedPubMedCentral

215.

Tian X, Pascal G, Monget P. Evolution and functional divergence of NLRP genes in mammalian reproductive systems. BMC Evol Biol. 2009;9:202. https://doi.org/10.1186/1471-2148-9-202.CrossRefPubMedPubMedCentral

216.

Dankert D, Demond H, Trapphoff T, Heiligentag M, Rademacher K, Eichenlaub-Ritter U, Horsthemke B, Grummer R. Pre- and postovulatory aging of murine oocytes affect the transcript level and poly(A) tail length of maternal effect genes. PLoS ONE. 2014;9(10):e108907. https://doi.org/10.1371/journal.pone.0108907.CrossRefPubMedPubMedCentral

217.

Yan R, Cheng X, Gu C, Xu Y, Long X, Zhai J, Sun F, Qian J, Du Y, Wang H, Guo F. Dynamics of DNA hydroxymethylation and methylation during mouse embryonic and germline development. Nat Genet. 2023;55(1):130–43. https://doi.org/10.1038/s41588-022-01258-x.CrossRefPubMed

218.

Meng TG, Guo JN, Zhu L, Yin Y, Wang F, Han ZM, Lei L, Ma XS, Xue Y, Yue W, Nie XQ, Zhao ZH, Zhang HY, Sun SM, Ouyang YC, Hou Y, Schatten H, Ju ZY, Ou XH, Wang ZB, Wong CCL, Li ZH, Sun QY. NLRP14 safeguards calcium homeostasis via regulating the K27 ubiquitination of Nclx in oocyte-to-embryo transition. Adv Sci. 2023;10(27):e2301940. https://doi.org/10.1002/advs.202301940.CrossRef

219.

Zhang WZ, Zhang RR, Wu L, Zhu CD, Zhang CX, Xu CP, Zhao SD, Liu XC, Guo T, Lu YS, Gao Z, Yu X, Li L, Chen ZJ, Qin YY, Jiao X. NLRP14 deficiency causes female infertility with oocyte maturation defects and early embryonic arrest by impairing cytoplasmic UHRF1 abundance. Cell Rep. 2023;42(12):113531. https://doi.org/10.1016/j.celrep.2023.113531.CrossRefPubMed

220.

Mancini M, Magnani E, Macchi F, Bonapace IM. The multi-functionality of UHRF1: epigenome maintenance and preservation of genome integrity. Nucleic Acids Res. 2021;49(11):6053–68. https://doi.org/10.1093/nar/gkab293.CrossRefPubMedPubMedCentral

221.

Zhang WD, Chen ZL, Zhang DF, Zhao B, Liu L, Xie ZY, Yao YG, Zheng P. KHDC3L mutation causes recurrent pregnancy loss by inducing genomic instability of human early embryonic cells. PLOS Biol. 2019;17(10):e3000468. https://doi.org/10.1371/journal.pbio.3000468.CrossRefPubMedPubMedCentral

222.

Nakamura T, Okamoto I, Sasaki K, Yabuta Y, Iwatani C, Tsuchiya H, Seita Y, Nakamura S, Yamamoto T, Saitou M. A developmental coordinate of pluripotency among mice, monkeys and humans. Nature. 2016;537(7618):57–62. https://doi.org/10.1038/nature19096.CrossRefPubMed

223.

Liu DH, Wang XY, He DJ, Sun CL, He XC, Yan LZ, Li YZ, Han JDJ, Zheng P. Single-cell RNA-sequencing reveals the existence of naive and primed pluripotency in preimplantation rhesus monkey embryos. Genome Res. 2018;28(10):1481–93. https://doi.org/10.1101/gr.233437.117.CrossRefPubMedPubMedCentral

224.

Judson H, Hayward BE, Sheridan E, Bonthron DT. A global disorder of imprinting in the human female germ line. Nature. 2002;416(6880):539–42. https://doi.org/10.1038/416539a.CrossRefPubMed

225.

Rath A, Sethi P, Jena SK, Mitra S. Familial recurrent molar pregnancy:positive for KHDC3L gene mutation. BMJ Case Rep. 2023;16(11):e254435. https://doi.org/10.1136/bcr-2022-254435.CrossRefPubMed

226.

Rezaei M, Nguyen NMP, Foroughinia L, Dash P, Ahmadpour F, Verma IC, Slim R, Fardaei M. Two novel mutations in the KHDC3L gene in asian patients with recurrent hydatidiform mole. Hum Genome Var. 2016;3:16027. https://doi.org/10.1038/hgv.2016.27.CrossRefPubMedPubMedCentral

227.

Liu DH, Wang XY, He DJ, Sun CL, He XC, Yan LZ, Li YZ, Han JDJ, Zheng P. Single-cell RNA-sequencing reveals the existence of naive and primed pluripotency in pre-implantation rhesus monkey embryos. Genome Res. 2018;28(10):1481–93. https://doi.org/10.1101/gr.233437.117.CrossRefPubMedPubMedCentral

228.

Liu CY, Li M, Li TJ, Zhao HC, Huang J, Wang Y, Cao Q, Yu Y, Shi QH. ECAT1 is essential for human oocyte maturation and pre-implantation development of the resulting embryos. Sci Rep. 2016;6:38192. https://doi.org/10.1038/srep38192.CrossRefPubMedPubMedCentral

229.

He DJ, Wang L, Zhang ZB, Guo K, Li JZ, He XC, Cui QH, Zheng P. Maternal gene Ooep may participate in homologous recombination-mediated DNA double-strand break repair in mouse oocytes. Zool Res. 2018;39(6):387.PubMedPubMedCentral

230.

Begemann M, Rezwan FI, Beygo J, Docherty LE, Kolarova J, Schroeder C, Buiting K, Chokkalingam K, Degenhardt F, Wakeling EL, Kleinle S, Gonzalez Fassrainer D, Oehl-Jaschkowitz B, Turner CLS, Patalan M, Gizewska M, Binder G, Bich Ngoc CT, Chi Dung V, Mackay DJG. Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring. J Med Gen. 2018;55(7):497–504. https://doi.org/10.1136/jmedgenet-2017-105190.CrossRef

231.

Madgwick S, Hansen DV, Levasseur M, Jackson PK, Jones KT. Mouse Emi2 is required to enter meiosis II by reestablishing cyclin B1 during interkinesis. J Cell Biol. 2006;174(6):791–801. https://doi.org/10.1083/jcb.200604140.CrossRefPubMedPubMedCentral

232.

Gopinathan L, Szmyd R, Low D, Diril MK, Chang HY, Coppola V, Liu K, Tessarollo L, Guccione E, van Pelt AMM, Kaldis P. Emi2 is essential for mouse spermatogenesis. Cell Rep. 2017;20(3):697–708. https://doi.org/10.1016/j.celrep.2017.06.033.

233.

Shoji S, Yoshida N, Amanai M, Ohgishi M, Fukui T, Fujimoto S, Nakano Y, Kajikawa E, Perry AC. Mammalian Emi2 mediates cytostatic arrest and transduces the signal for meiotic exit via Cdc20. EMBO J. 2006;25(4):834–45. https://doi.org/10.1038/sj.emboj.7600953.CrossRefPubMedPubMedCentral

234.

Inoue D, Ohe M, Kanemori Y, Nobui T, Sagata N. A direct link of the Mos-MAPK pathway to Erp1/Emi2 in meiotic arrest of Xenopus laevis eggs. Nature. 2007;446(7139):1100–4. https://doi.org/10.1038/nature05688.CrossRefPubMed

235.

Ma Y, Xie N, Xie DX, Sun LT, Li SY, Li PQ, Li Y, Li J, Dong ZL, Xie XD. A novel homozygous FBXO43 mutation associated with male infertility and teratozoospermia in a consanguineous Chinese family. Fertil Steril. 2019;111(5):909-17.e1. https://doi.org/10.1016/j.fertnstert.2019.01.007.CrossRefPubMed

236.

Wu H, Zhang X, Shen QS, Liu YY, Gao Y, Wang GX, Lv MR, Hua R, Xu YP, Zhou P, Wei ZL, Tao FB, He XJ, Cao YX, Liu MX. A homozygous loss-of-function mutation in FBXO43 causes human non-obstructive azoospermia. Clin Genet. 2022;101(1):55–64. https://doi.org/10.1111/cge.14069.CrossRefPubMed

237.

Wang WJ, Wang WJ, Xu Y, Shi JZ, Fu J, Chen BB, Mu J, Zhang ZH, Zhao L, Lin J, Du J, Li QL, He L, Jin L, Sun XX, Wang L, Sang Q. FBXO43 variants in patients with female infertility characterized by early embryonic arrest. Hum Reprod. 2021;36(8):2392–402. https://doi.org/10.1093/humrep/deab131.CrossRefPubMed

238.

Choi T, Fukasawa K, Zhou R, Tessarollo L, Borror K, Resau J, Vande Woude GF. The Mos/mitogen-activated protein kinase (MAPK) pathway regulates the size and degradation of the first polar body in maturing mouse oocytes. Proc Natl Acad Sci USA. 1996;93(14):7032–5. https://doi.org/10.1073/pnas.93.14.7032.CrossRefPubMedPubMedCentral

239.

Charlesworth A, Ridge JA, King LA, MacNicol MC, MacNicol AM. A novel regulatory element determines the timing of Mos mRNA translation during Xenopus oocyte maturation. EMBO J. 2002;21(11):2798–806. https://doi.org/10.1093/emboj/21.11.2798.CrossRefPubMedPubMedCentral

240.

Zhang YL, Liu XM, Ji SY, Sha QQ, Zhang J, Fan HY. ERK1/2 activities are dispensable for oocyte growth but are required for meiotic maturation and pronuclear formation in mouse. J Genet Genomics. 2015;42(9):477–85. https://doi.org/10.1016/j.jgg.2015.07.004.CrossRefPubMed

241.

Colledge W, Carlton M, Udy G, Evans M. Disruption of c-mos causes parthenogenetic development of unfertilized mouse eggs. Nature. 1994;370(6484):65–8. https://doi.org/10.1038/370065a0.CrossRefPubMed

242.

Zhang YL, Zhang W, Ren PP, Hu HL, Tong XM, Zhang SP, Li X, Wang HC, Jiang JC, Jin JM, Yang WJ, Cao LR, He YL, Ma YR, Zhang YY, Gu YF, Hu L, Luo KL, Gong F, Lu GX, Lin G, Fan HY, Zhang SY. Biallelic mutations in MOS cause female infertility characterized by human early embryonic arrest and fragmentation. EMBO Mol Med. 2021;13(12):e14887. https://doi.org/10.15252/emmm.202114887.CrossRefPubMedPubMedCentral

243.

Wang L, Sang Q. MOS is a novel genetic marker for human early embryonic arrest and fragmentation. EMBO Mol Med. 2021;13(12):e15323. https://doi.org/10.15252/emmm.202115323.CrossRefPubMedPubMedCentral

244.

Zeng Y, Shi JZ, Xu SR, Shi R, Wu TH, Li HY, Xue X, Zhu YC, Chen BB, Sang Q, Wang L. Bi-allelic mutations in MOS cause female infertility characterized by preimplantation embryonic arrest. Hum Reprod. 2022;37(3):612–20. https://doi.org/10.1093/humrep/deab281.CrossRefPubMed

245.

Zhang YL, Zheng W, Ren PP, Jin JM, Hu ZH, Liu Q, Fan HY, Gong F, Lu GX, Lin G, Zhang SY, Tong XM. Biallelic variants in MOS cause large polar body in oocyte and human female infertility. Hum Reprod. 2022;37(8):1932–44. https://doi.org/10.1093/humrep/deac120.CrossRefPubMed

246.

Jiao GZ, Lian HY, Xing JH, Chen LL, Du ZL, Liu XY. MOS mutation causes female infertility with large polar body oocytes. Gynecol Endocrinol. 2022;38(12):1158–63. https://doi.org/10.1080/09513590.2022.2147158.CrossRefPubMed

247.

Reinholdt LG, Schimenti JC. Mei1 is epistatic to Dmc1 during mouse meiosis. Chromosoma. 2005;114(2):127–34. https://doi.org/10.1007/s00412-005-0346-4.CrossRefPubMed

248.

Ben Khelifa M, Ghieh F, Boudjenah R, Hue C, Fauvert D, Dard R, Garchon HJ, Vialard F. A MEI1 homozygous missense mutation associated with meiotic arrest in a consanguineous family. Hum Reprod. 2018;33(6):1034–7. https://doi.org/10.1093/humrep/dey073.CrossRefPubMed

249.

Nguyen NMP, Ge ZJ, Reddy R, Fahiminiya S, Sauthier P, Bagga R, Sahin FI, Mahadevan S, Osmond M, Breguet M, Rahimi K, Lapensee L, Hovanes K, Srinicasan R, Van den Veyver IB, Sahoo T, Ao A, Majewski J, Taketo T, Slim R. Causative mutations and mechanism of androgenetic hydatidiform moles. Am J Hum Genet. 2018;103(5):740–51. https://doi.org/10.1016/j.ajhg.2018.10.007.CrossRefPubMedPubMedCentral

250.

Dong J, Zhang H, Mao XY, Zhu JH, Li D, Fu J, Hu JJ, Wu L, Chen BB, Sun YM, Mu J, Zhang ZH, Sun XX, Zhao L, Wang WJ, Wang WJ, Zhou Z, Zeng Y, Du J, Li QL, He L, Jin L, Kuang YP, Wang L, Sang Q. Novel biallelic mutations in MEI 1:expanding the phenotypic spectrum to human embryonic arrest and recurrent implantation failure. Hum Reprod. 2021;36(8):2371–81. https://doi.org/10.1093/humrep/deab118.CrossRefPubMed

251.

Libby BJ, De La Fuente R, O’Brien MJ, Wigglesworth K, Cobb J, Inselman A, Eaker S, Handel MA, Eppig JJ, Schimenti JC. The mouse meiotic mutation mei1 disrupts chromosome synapsis with sexually dimorphic consequences for meiotic progression. Dev Biol. 2002;242(2):174–87. https://doi.org/10.1006/dbio.2001.0535.CrossRefPubMed

252.

Libby BJ, Reinholdt LG, Schimenti JC. Positional cloning and characterization of Mei1, a vertebrate-specific gene required for normal meiotic chromosome synapsis in mice. Proc Natl Acad Sci USA. 2003;100(26):15706–11. https://doi.org/10.1073/pnas.2432067100.CrossRefPubMedPubMedCentral

253.

Wu XL, Tian YQ, Yu YQ, He XJ, Tang XH, Li SS, Shu J, Guo XY. Novel MEI1 mutations cause chromosomal and DNA methylation abnormalities leading to embryonic arrest and implantation failure. Mol Genet Genomics. 2024;299(1):18. https://doi.org/10.1007/s00438-024-02113-w.CrossRefPubMed

254.

Maleki S, Neale MJ, Arora C, Henderson KA, Keeney S. Interactions between Mei4, Rec114, and other proteins required for meiotic DNA double-strand break formation in Saccharomyces cerevisiae. Chromosoma. 2007;116(5):471–86. https://doi.org/10.1007/s00412-007-0111-y.CrossRefPubMedPubMedCentral

255.

Kumar R, Oliver C, Brun C, Juarez-Martinez AB, Tarabay Y, Kadlec J, De Massy B. Mouse REC114 is essential for meiotic DNA double-strand break formation and forms a complex with MEI4. Life Sci Alliance. 2018;1(6):e201800259. https://doi.org/10.26508/lsa.201800259.CrossRefPubMedPubMedCentral

256.

Rosenbusch BE. A preliminary concept, deduced from cytogenetic analyses, for explaining different types of multipronuclear oocytes obtained after intracytoplasmic sperm injection. Fertil Steril. 2010;94(6):2479–81. https://doi.org/10.1016/j.fertnstert.2010.03.075.CrossRefPubMed

257.

Dai J, Leng Z, Lu CF, Gong F, Zhang SP, Zheng W, Lu GX, Lin G. Time-lapse observation and transcriptome analysis of a case with repeated multiple pronuclei after IVF/ICSI. J Assist Reprod Genet. 2017;34(9):1189–97. https://doi.org/10.1007/s10815-017-0972-9.CrossRefPubMedPubMedCentral

258.

Wang WJ, Dong J, Chen BB, Du J, Kuang YP, Sun XX, Fu J, Li B, Mu J, Zhang ZH, Zhou Z, Lin Z, Wu L, Yan Z, Mao XY, Li QL, He L, Wang L, Sang Q. Homozygous mutations in REC114 cause female infertility characterized by multiple pronuclei formation and early embryonic arrest. J Med Genet. 2020;57(3):187–94. https://doi.org/10.1136/jmedgenet-2019-106379.CrossRefPubMed

259.

Sha QQ, Zhu YZ, Li S, Jiang Y, Chen L, Sun XH, Shen L, Ou XH, Fan HY. Characterization of zygotic genome activation-dependent maternal mRNA clearance in mouse. Nucleic Acids Res. 2020;48(2):879–94. https://doi.org/10.1093/nar/gkz1111.CrossRefPubMed

260.

Dumdie JN, Cho K, Ramaiah M, Skarbrevik D, Mora-Castilla S, Stumpo DJ, Lykke-Andersen J, Laurent LC, Blackshear PJ, Wilkinson MF, Cook-Andersen H. Chromatin modification and global transcriptional silencing in the oocyte mediated by the mRNA decay activator ZFP36L2. Dev Cell. 2018;44(3):392-402.e7. https://doi.org/10.1016/j.devcel.2018.01.006.CrossRef

261.

Dai XX, Jiang ZY, Wu YW, Sha QQ, Liu Y, Ding JY, Xi WD, Li J, Fan HY. CNOT6/6L-mediated mRNA degradation in ovarian granulosa cells is a key mechanism of gonadotropin-triggered follicle development. Cell Rep. 2021;37(7):110007. https://doi.org/10.1016/j.celrep.2021.110007.CrossRefPubMed

262.

Ramos SB, Stumpo DJ, Kennington EA, Phillips RS, Bock CB, Ribeiro-Neto F, Blackshear PJ. The CCCH tandem zinc-finger protein Zfp36l2 is crucial for female fertility and early embryonic development. Development. 2004;131(19):4883–93. https://doi.org/10.1242/dev.01336.CrossRefPubMed

263.

Zheng W, Sha QQ, Hu HL, Meng F, Zhou QW, Chen XQ, Zhang SP, Gu YF, Yan X, Zhao L, Zong YR, Hu L, Gong F, Lu GX, Fan HY, Lin G. Biallelic variants in ZFP36L2 cause female infertility characterised by recurrent preimplantation embryo arrest. J Med Genet. 2022;59(9):850–7. https://doi.org/10.1136/jmedgenet-2021-107933.CrossRefPubMed

264.

Goldfarb DS, Corbett AH, Mason DA, Harreman MT, Adam SA. Importin alpha: a multipurpose nuclear-transport receptor. Trends Cell Biol. 2004;14(9):505–14. https://doi.org/10.1016/j.tcb.2004.07.016.CrossRefPubMed

265.

Lee SJ, Imamoto N, Sakai H, Nakagawa A, Kose S, Koike M, Yamamoto M, Kumasaka T, Yoneda Y, Tsukihara T. The adoption of a twisted structure of importin-beta is essential for the protein-protein interaction required for nuclear transport. J Mol Biol. 2000;302(1):251–64. https://doi.org/10.1006/jmbi.2000.4055.CrossRefPubMed

266.

Wang X, Park K-E, Koser S, Liu SH, Magnani L, Cabot RA. KPNA7, an oocyte- and embryo-specific karyopherin α subtype, is required for porcine embryo development. Reprod Fertil Dev. 2012;24(2):382–91. https://doi.org/10.1071/RD11119.CrossRefPubMed

267.

Boroviak T, Stirparo GG, Dietmann S, Hernando-Herraez I, Mohammed H, Reik W, Smith A, Sasaki E, Nichols J, Bertone P. Single cell transcriptome analysis of human, marmoset and mouse embryos reveals common and divergent features of preimplantation development. Development. 2022;145(21):167833. https://doi.org/10.1242/dev.167833.CrossRef

268.

Wang WJ, Miyamoto YC, Chen BB, Shi JZ, Diao FY, Zheng W, Li Q, Yu L, Li L, Xu Y, Wu L, Mao XY, Fu J, Li B, Yan Z, Shi R, Xue X, Mu J, Zhang ZH, Wu TY, Zhao L, Wang WJ, Zhou Z, Dong J, Li QL, Jin L, He L, Sun XX, Lin G, Kuang YP, Wang L, Sang Q. Karyopherin α deficiency contributes to human preimplantation embryo arrest. J Clin Invest. 2023;133(2):e159951. https://doi.org/10.1172/JCI159951.CrossRefPubMedPubMedCentral

269.

Sharif M, Detti L, Veyver LBVD. Take your mother’s ferry: preimplantation embryo development requires maternal karyopherins for nuclear transport. J Clin Invest. 2023;133(2):e166279. https://doi.org/10.1172/JCI166279.CrossRefPubMedPubMedCentral

270.

Bebbere D, Albertini DF, Coticchio G, Borini A, Ledda S. The subcortical maternal complex: emerging roles and novel perspectives. Mol Hum Reprod. 2021;27(7):gaab043. https://doi.org/10.1093/molehr/gaab043.CrossRefPubMed

271.

Duncan FE, Padilla-Banks E, Bernhardt ML, Ord TS, Jefferson WN, Moss SB, Williams CJ. Transducin-like enhancer of split-6 (TLE6) is a substrate of protein kinase A activity during mouse oocyte maturation. Biol Reprod. 2014;90(3):63. https://doi.org/10.1095/biolreprod.113.112565.CrossRefPubMedPubMedCentral

Keynote webinar | Spotlight on modern management of frailty

Springer Medicine

Advances in the genetic etiology of female infertility

Abstract

Keynote webinar | Spotlight on modern management of frailty

Springer Medicine

Abstract

Please log in to get access to this content