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Volumn 32, Issue 4, 2015, Pages 615-623

Genetic aspects of monomorphic teratozoospermia: a review

Author keywords

Globozoospermia; Macrozoospermia; Male infertility; Meiotic segregation; Molecular genetics; Sperm DNA fragmentation; Teratozoospermia

Indexed keywords

DNA FRAGMENTATION; GENETICS; HUMAN; MALE; MALE INFERTILITY; MUTATION; PATHOLOGY; SPERMATOZOON;

EID: 84939965816     PISSN: 10580468     EISSN: 15737330     Source Type: Journal    
DOI: 10.1007/s10815-015-0433-2     Document Type: Article
Times cited : (103)

References (77)
  • 2
    • 34447316145 scopus 로고    scopus 로고
    • International estimates of infertility prevalence and treatment-seeking: potential need and demand for infertility medical care
    • PID: 17376819
    • Boivin J, Bunting L, Collins JA, Nygren KG. International estimates of infertility prevalence and treatment-seeking: potential need and demand for infertility medical care. Hum Reprod. 2007;22:1506–12.
    • (2007) Hum Reprod , vol.22 , pp. 1506-1512
    • Boivin, J.1    Bunting, L.2    Collins, J.A.3    Nygren, K.G.4
  • 3
    • 0025766021 scopus 로고
    • Incidence and main causes of infertility in a resident population (1 850 000) of three French regions (1988–1989)
    • COI: 1:STN:280:DyaK38%2FpvVKmug%3D%3D, PID: 1757519
    • Thonneau P, Marchand S, Tallec A, Ferial ML, Ducot B, Lansac J, et al. Incidence and main causes of infertility in a resident population (1 850 000) of three French regions (1988–1989). Hum Reprod. 1991;6:811–6.
    • (1991) Hum Reprod , vol.6 , pp. 811-816
    • Thonneau, P.1    Marchand, S.2    Tallec, A.3    Ferial, M.L.4    Ducot, B.5    Lansac, J.6
  • 4
    • 84877287990 scopus 로고    scopus 로고
    • Motile sperm organelle morphology examination (MSOME): where do we stand twelve years later?
    • COI: 1:CAS:528:DC%2BC3sXmvVShtr8%3D
    • Perrin A, Nguyen MH, Douet-Guilbert N, Morel F, De Braekeleer M. Motile sperm organelle morphology examination (MSOME): where do we stand twelve years later? Expert Rev Obstet Gynecol. 2013;8:249–60.
    • (2013) Expert Rev Obstet Gynecol , vol.8 , pp. 249-260
    • Perrin, A.1    Nguyen, M.H.2    Douet-Guilbert, N.3    Morel, F.4    De Braekeleer, M.5
  • 5
    • 53149137481 scopus 로고    scopus 로고
    • Study of aneuploidy in large-headed, multiple-tailed spermatozoa: case report and review of the literature
    • PID: 18166187
    • Perrin A, Morel F, Moy L, Colleu D, Amice V, De Braekeleer M. Study of aneuploidy in large-headed, multiple-tailed spermatozoa: case report and review of the literature. Fertil Steril. 2008;90:1201–7.
    • (2008) Fertil Steril , vol.90 , pp. 1201-1207
    • Perrin, A.1    Morel, F.2    Moy, L.3    Colleu, D.4    Amice, V.5    De Braekeleer, M.6
  • 6
    • 84871763828 scopus 로고    scopus 로고
    • Molecular cytogenetic and genetic aspects of globozoospermia: a review
    • COI: 1:CAS:528:DC%2BC3sXhtlGhsL0%3D, PID: 22571172
    • Perrin A, Coat C, Nguyen MH, Talagas M, Morel F, Amice J, et al. Molecular cytogenetic and genetic aspects of globozoospermia: a review. Andrologia. 2013;45:1–9.
    • (2013) Andrologia , vol.45 , pp. 1-9
    • Perrin, A.1    Coat, C.2    Nguyen, M.H.3    Talagas, M.4    Morel, F.5    Amice, J.6
  • 7
    • 0017661741 scopus 로고
    • Multi-tailed spermatozoa in a case with asthenospermia and teratospermia
    • COI: 1:STN:280:DyaE1c7hvFShsw%3D%3D, PID: 415424
    • Nistal M, Paniagua R, Herruzo A. Multi-tailed spermatozoa in a case with asthenospermia and teratospermia. Virchows Arch B Cell Pathol. 1977;26:111–8.
    • (1977) Virchows Arch B Cell Pathol , vol.26 , pp. 111-118
    • Nistal, M.1    Paniagua, R.2    Herruzo, A.3
  • 8
    • 0034528664 scopus 로고    scopus 로고
    • Do morphological anomalies reflect chromosomal aneuploidies?
    • COI: 1:STN:280:DC%2BD3M%2FoslWnug%3D%3D, PID: 11098027
    • Viville S, Mollard R, Bach ML, Falquet C, Gerlinger P, Warter S. Do morphological anomalies reflect chromosomal aneuploidies? Hum Reprod. 2000;15:2563–6.
    • (2000) Hum Reprod , vol.15 , pp. 2563-2566
    • Viville, S.1    Mollard, R.2    Bach, M.L.3    Falquet, C.4    Gerlinger, P.5    Warter, S.6
  • 9
    • 4544324523 scopus 로고    scopus 로고
    • Sperm selection for ICSI: shape properties do not predict the absence or presence of numerical chromosomal aberrations
    • PID: 15205404
    • Celik-Ozenci C, Jakab A, Kovacs T, Catalanotti J, Demir R, Bray-Ward P, et al. Sperm selection for ICSI: shape properties do not predict the absence or presence of numerical chromosomal aberrations. Hum Reprod. 2004;19:2052–9.
    • (2004) Hum Reprod , vol.19 , pp. 2052-2059
    • Celik-Ozenci, C.1    Jakab, A.2    Kovacs, T.3    Catalanotti, J.4    Demir, R.5    Bray-Ward, P.6
  • 10
    • 0030224305 scopus 로고    scopus 로고
    • Rapid chromosomal analysis of germ-line cells by FISH: an investigation of an infertile male with large-headed spermatozoa
    • COI: 1:STN:280:DyaK2szotlKquw%3D%3D, PID: 9239680
    • Yurov YB, Saias MJ, Vorsanova SG, Erny R, Soloviev IV, Sharonin VO, et al. Rapid chromosomal analysis of germ-line cells by FISH: an investigation of an infertile male with large-headed spermatozoa. Mol Hum Reprod. 1996;2:665–8.
    • (1996) Mol Hum Reprod , vol.2 , pp. 665-668
    • Yurov, Y.B.1    Saias, M.J.2    Vorsanova, S.G.3    Erny, R.4    Soloviev, I.V.5    Sharonin, V.O.6
  • 11
    • 34247598906 scopus 로고    scopus 로고
    • Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility
    • COI: 1:CAS:528:DC%2BD2sXksFersb0%3D, PID: 17435757
    • Dieterich K, Soto Rifo R, Faure AK, Hennebicq S, Ben Amar B, Zahi M, et al. Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility. Nat Genet. 2007;39:661–5.
    • (2007) Nat Genet , vol.39 , pp. 661-665
    • Dieterich, K.1    Soto Rifo, R.2    Faure, A.K.3    Hennebicq, S.4    Ben Amar, B.5    Zahi, M.6
  • 12
    • 82955227976 scopus 로고    scopus 로고
    • Cytogenetic and molecular aspects of absolute teratozoospermia: comparison between polymorphic and monomorphic forms
    • PID: 22137696
    • Brahem S, Elghezal H, Ghedir H, Landolsi H, Amara A, Ibala S, et al. Cytogenetic and molecular aspects of absolute teratozoospermia: comparison between polymorphic and monomorphic forms. Urology. 2011;78:1313–9.
    • (2011) Urology , vol.78 , pp. 1313-1319
    • Brahem, S.1    Elghezal, H.2    Ghedir, H.3    Landolsi, H.4    Amara, A.5    Ibala, S.6
  • 13
    • 32944463311 scopus 로고    scopus 로고
    • Chromosomal analysis of spermatozoa with normal-sized heads in two infertile patients with macrocephalic sperm head syndrome
    • Guthauser B, Vialard F, Dakouane M, Izard V, Albert M, Selva J. Chromosomal analysis of spermatozoa with normal-sized heads in two infertile patients with macrocephalic sperm head syndrome. Fertil Steril. 2006;85:750.e5–7.
    • (2006) Fertil Steril , vol.85
    • Guthauser, B.1    Vialard, F.2    Dakouane, M.3    Izard, V.4    Albert, M.5    Selva, J.6
  • 14
    • 84857760242 scopus 로고    scopus 로고
    • Study of aneuploidy rate and sperm DNA fragmentation in large-headed, multiple-tailed spermatozoa
    • COI: 1:STN:280:DC%2BC383nsVKjtg%3D%3D, PID: 21714801
    • Brahem S, Mehdi M, Elghezal H, Saad A. Study of aneuploidy rate and sperm DNA fragmentation in large-headed, multiple-tailed spermatozoa. Andrologia. 2012;44:130–5.
    • (2012) Andrologia , vol.44 , pp. 130-135
    • Brahem, S.1    Mehdi, M.2    Elghezal, H.3    Saad, A.4
  • 15
    • 79551557901 scopus 로고    scopus 로고
    • Study of aneuploidy and DNA fragmentation in gametes of patients with severe teratozoospermia
    • COI: 1:STN:280:DC%2BC3M7ltlCktQ%3D%3D, PID: 21233018
    • Perrin A, Louanjli N, Ziane Z, Louanjli T, Le Roy C, Guéganic N, et al. Study of aneuploidy and DNA fragmentation in gametes of patients with severe teratozoospermia. Reprod Biomed Online. 2011;22:148–54.
    • (2011) Reprod Biomed Online , vol.22 , pp. 148-154
    • Perrin, A.1    Louanjli, N.2    Ziane, Z.3    Louanjli, T.4    Le Roy, C.5    Guéganic, N.6
  • 17
    • 63149112694 scopus 로고    scopus 로고
    • The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population
    • COI: 1:CAS:528:DC%2BD1MXjsFSju78%3D, PID: 19147683
    • Dieterich K, Zouari R, Harbuz R, Vialard F, Martinez D, Bellayou H, et al. The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population. Hum Mol Genet. 2009;18:1301–9.
    • (2009) Hum Mol Genet , vol.18 , pp. 1301-1309
    • Dieterich, K.1    Zouari, R.2    Harbuz, R.3    Vialard, F.4    Martinez, D.5    Bellayou, H.6
  • 18
    • 81255147826 scopus 로고    scopus 로고
    • A new AURKC mutation causing macrozoospermia: implications for human spermatogenesis and clinical diagnosis
    • COI: 1:CAS:528:DC%2BC3MXhsVOju7rF, PID: 21733974
    • Ben Khelifa M, Zouari R, Harbuz R, Halouani L, Arnoult C, Lunardi J, et al. A new AURKC mutation causing macrozoospermia: implications for human spermatogenesis and clinical diagnosis. Mol Hum Reprod. 2011;17:762–8.
    • (2011) Mol Hum Reprod , vol.17 , pp. 762-768
    • Ben Khelifa, M.1    Zouari, R.2    Harbuz, R.3    Halouani, L.4    Arnoult, C.5    Lunardi, J.6
  • 19
    • 84867751040 scopus 로고    scopus 로고
    • Identification of a new recurrent aurora kinase C mutation in both European and African men with macrozoospermia
    • COI: 1:CAS:528:DC%2BC38XhsFKmu7rJ, PID: 22888167
    • Ben Khelifa M, Coutton C, Blum MG, Abada F, Harbuz R, Zouari R, et al. Identification of a new recurrent aurora kinase C mutation in both European and African men with macrozoospermia. Hum Reprod. 2012;27:3337–46.
    • (2012) Hum Reprod , vol.27 , pp. 3337-3346
    • Ben Khelifa, M.1    Coutton, C.2    Blum, M.G.3    Abada, F.4    Harbuz, R.5    Zouari, R.6
  • 20
    • 84897436459 scopus 로고    scopus 로고
    • Prevalence of the Aurora kinase C c.144delC mutation in infertile Moroccan men
    • COI: 1:CAS:528:DC%2BC2cXhsFeht7k%3D, PID: 24484996
    • Eloualid A, Rouba H, Rhaissi H, Barakat A, Louanjli N, Bashamboo A, et al. Prevalence of the Aurora kinase C c.144delC mutation in infertile Moroccan men. Fertil Steril. 2014;101:1086–90.
    • (2014) Fertil Steril , vol.101 , pp. 1086-1090
    • Eloualid, A.1    Rouba, H.2    Rhaissi, H.3    Barakat, A.4    Louanjli, N.5    Bashamboo, A.6
  • 21
    • 79957787648 scopus 로고    scopus 로고
    • Sefiani A [Confirmation of the high prevalence in Morocco of the homozygous mutation c.144delC in the aurora kinase C gene (AURKC) in the teratozoospermia with large-headed spermatozoa]
    • El Kerch F, Lamzouri A, Laarabi FZ, Zahi M, Ben Amar B. Sefiani A [Confirmation of the high prevalence in Morocco of the homozygous mutation c.144delC in the aurora kinase C gene (AURKC) in the teratozoospermia with large-headed spermatozoa]. J Gynecol Obstet Biol Reprod (Paris). 2011;40:329–33.
    • (2011) J Gynecol Obstet Biol Reprod (Paris) , vol.40 , pp. 329-333
    • El Kerch, F.1    Lamzouri, A.2    Laarabi, F.Z.3    Zahi, M.4    Ben Amar, B.5
  • 22
    • 0032212717 scopus 로고    scopus 로고
    • Cloning of STK13, a third human protein kinase related to Drosophila aurora and budding yeast Ipl1 that maps on chromosome 19q13.3-ter
    • COI: 1:CAS:528:DyaK1cXns1aktLg%3D, PID: 9799611
    • Bernard M, Sanseau P, Henry C, Couturier A, Prigent C. Cloning of STK13, a third human protein kinase related to Drosophila aurora and budding yeast Ipl1 that maps on chromosome 19q13.3-ter. Genomics. 1998;53:406–9.
    • (1998) Genomics , vol.53 , pp. 406-409
    • Bernard, M.1    Sanseau, P.2    Henry, C.3    Couturier, A.4    Prigent, C.5
  • 23
    • 0033548619 scopus 로고    scopus 로고
    • Cell cycle-dependent expression and centrosome localization of a third human aurora/Ipl1-related protein kinase, AIK3
    • COI: 1:CAS:528:DyaK1MXhvFWqsbY%3D, PID: 10066797
    • Kimura M, Matsuda Y, Yoshioka T, Okano Y. Cell cycle-dependent expression and centrosome localization of a third human aurora/Ipl1-related protein kinase, AIK3. J Biol Chem. 1999;274:7334–40.
    • (1999) J Biol Chem , vol.274 , pp. 7334-7340
    • Kimura, M.1    Matsuda, Y.2    Yoshioka, T.3    Okano, Y.4
  • 24
    • 0035378348 scopus 로고    scopus 로고
    • The zinc finger domain of Tzfp binds to the tbs motif located at the upstream flanking region of the Aie1 (aurora-C) kinase gene
    • COI: 1:CAS:528:DC%2BD3MXkt12rtb8%3D, PID: 11279021
    • Tang CJ, Chuang CK, Hu HM, Tang TK. The zinc finger domain of Tzfp binds to the tbs motif located at the upstream flanking region of the Aie1 (aurora-C) kinase gene. J Biol Chem. 2001;276:19631–9.
    • (2001) J Biol Chem , vol.276 , pp. 19631-19639
    • Tang, C.J.1    Chuang, C.K.2    Hu, H.M.3    Tang, T.K.4
  • 25
    • 31544432841 scopus 로고    scopus 로고
    • Dynamic localization and functional implications of Aurora-C kinase during male mouse meiosis
    • COI: 1:CAS:528:DC%2BD28XhtFaquro%3D, PID: 16386730
    • Tang CJ, Lin CY, Tang TK. Dynamic localization and functional implications of Aurora-C kinase during male mouse meiosis. Dev Biol. 2006;290:398–410.
    • (2006) Dev Biol , vol.290 , pp. 398-410
    • Tang, C.J.1    Lin, C.Y.2    Tang, T.K.3
  • 26
    • 84996084733 scopus 로고
    • Uber die Morphogenese rundkopfiger Spermatozoen des Menschen
    • Schirren CG, Holstein AF, Schirren C. Uber die Morphogenese rundkopfiger Spermatozoen des Menschen. Andrologia. 1971;3:125.
    • (1971) Andrologia , vol.3 , pp. 125
    • Schirren, C.G.1    Holstein, A.F.2    Schirren, C.3
  • 27
    • 0026509517 scopus 로고
    • Ultrastructural features of round-headed human spermatozoa
    • COI: 1:STN:280:DyaK383ltVajtg%3D%3D, PID: 1349598
    • Singh G. Ultrastructural features of round-headed human spermatozoa. Int J Fertil. 1992;37:99–102.
    • (1992) Int J Fertil , vol.37 , pp. 99-102
    • Singh, G.1
  • 28
    • 0025119410 scopus 로고
    • Analysis of sperm function in globozoospermia: implications for the mechanism of sperm-zona interaction
    • COI: 1:STN:280:DyaK3M%2Fgs1Kisw%3D%3D, PID: 2209893
    • Aitken RJ, Kerr L, Bolton V, Hargreave T. Analysis of sperm function in globozoospermia: implications for the mechanism of sperm-zona interaction. Fertil Steril. 1990;54:701–7.
    • (1990) Fertil Steril , vol.54 , pp. 701-707
    • Aitken, R.J.1    Kerr, L.2    Bolton, V.3    Hargreave, T.4
  • 29
    • 0027976797 scopus 로고
    • A morphological and functional study of fusibility in round-headed spermatozoa in the human
    • COI: 1:STN:280:DyaK2c7jtFSqsA%3D%3D, PID: 8299793
    • Dale B, Iaccarino M, Fortunato A, Gragnaniello G, Kyozuka K, Tosti E. A morphological and functional study of fusibility in round-headed spermatozoa in the human. Fertil Steril. 1994;61:336–40.
    • (1994) Fertil Steril , vol.61 , pp. 336-340
    • Dale, B.1    Iaccarino, M.2    Fortunato, A.3    Gragnaniello, G.4    Kyozuka, K.5    Tosti, E.6
  • 30
    • 0029827244 scopus 로고    scopus 로고
    • Analysis of the oocyte activating capacity and chromosomal complement of round-headed human spermatozoa by their injection into mouse oocytes
    • COI: 1:STN:280:DyaK2s%2FpvV2jug%3D%3D, PID: 8943524
    • Rybouchkin A, Dozortsev D, Pelinck MJ, De Sutter P, Dhont M. Analysis of the oocyte activating capacity and chromosomal complement of round-headed human spermatozoa by their injection into mouse oocytes. Hum Reprod. 1996;11:2170–5.
    • (1996) Hum Reprod , vol.11 , pp. 2170-2175
    • Rybouchkin, A.1    Dozortsev, D.2    Pelinck, M.J.3    De Sutter, P.4    Dhont, M.5
  • 31
    • 44949094382 scopus 로고    scopus 로고
    • A comparison of sperm aneuploidy rates between infertile men with normal and abnormal karyotypes
    • PID: 18436578
    • Kirkpatrick G, Ferguson KA, Gao H, Tang S, Chow V, Yuen BH, et al. A comparison of sperm aneuploidy rates between infertile men with normal and abnormal karyotypes. Hum Reprod. 2008;23:1679–83.
    • (2008) Hum Reprod , vol.23 , pp. 1679-1683
    • Kirkpatrick, G.1    Ferguson, K.A.2    Gao, H.3    Tang, S.4    Chow, V.5    Yuen, B.H.6
  • 34
    • 0025613454 scopus 로고
    • Anomalous distribution of nuclear basic proteins in round-headed human spermatozoa
    • COI: 1:STN:280:DyaK3M3ptVaqsQ%3D%3D, PID: 2099675
    • Blanchard Y, Lescoat D, Le Lannou D. Anomalous distribution of nuclear basic proteins in round-headed human spermatozoa. Andrologia. 1990;22:549–55.
    • (1990) Andrologia , vol.22 , pp. 549-555
    • Blanchard, Y.1    Lescoat, D.2    Le Lannou, D.3
  • 35
    • 0032937465 scopus 로고    scopus 로고
    • Characterization of aneuploidy rates, protamine levels, ultrastructure, and functional ability of round-headed sperm from two siblings and implications for intracytoplasmic sperm injection
    • COI: 1:STN:280:DyaK1M7mtlKksQ%3D%3D, PID: 10065790
    • Carrell DT, Emery BR, Liu L. Characterization of aneuploidy rates, protamine levels, ultrastructure, and functional ability of round-headed sperm from two siblings and implications for intracytoplasmic sperm injection. Fertil Steril. 1999;71:511–6.
    • (1999) Fertil Steril , vol.71 , pp. 511-516
    • Carrell, D.T.1    Emery, B.R.2    Liu, L.3
  • 36
    • 0021143836 scopus 로고
    • Biochemical and genetic investigation of round-headed spermatozoa in infertile men including two brothers and their father
    • COI: 1:STN:280:DyaL2c3nvVelug%3D%3D, PID: 6380341
    • Florke-Gerloff S, Topfer-Petersen E, Muller-Esterl W, Mansouri A, Schatz R, Schirren C, et al. Biochemical and genetic investigation of round-headed spermatozoa in infertile men including two brothers and their father. Andrologia. 1984;16:187–202.
    • (1984) Andrologia , vol.16 , pp. 187-202
    • Florke-Gerloff, S.1    Topfer-Petersen, E.2    Muller-Esterl, W.3    Mansouri, A.4    Schatz, R.5    Schirren, C.6
  • 37
    • 7944237902 scopus 로고    scopus 로고
    • Evaluation and treatment of familial globozoospermia in five brothers
    • PID: 15533374
    • Kilani Z, Ismail R, Ghunaim S, Mohamed H, Hughes D, Brewis I, et al. Evaluation and treatment of familial globozoospermia in five brothers. Fertil Steril. 2004;82:1436–9.
    • (2004) Fertil Steril , vol.82 , pp. 1436-1439
    • Kilani, Z.1    Ismail, R.2    Ghunaim, S.3    Mohamed, H.4    Hughes, D.5    Brewis, I.6
  • 38
    • 40349116663 scopus 로고    scopus 로고
    • Clinical pregnancies and livebirths achieved by intracytoplasmic injection of round headed acrosomeless spermatozoa with and without oocyte activation in familial globozoospermia: case report
    • PID: 18097531
    • Dirican EK, Isik A, Vicdan K, Sozen E, Suludere Z. Clinical pregnancies and livebirths achieved by intracytoplasmic injection of round headed acrosomeless spermatozoa with and without oocyte activation in familial globozoospermia: case report. Asian J Androl. 2008;10:332–6.
    • (2008) Asian J Androl , vol.10 , pp. 332-336
    • Dirican, E.K.1    Isik, A.2    Vicdan, K.3    Sozen, E.4    Suludere, Z.5
  • 39
    • 35348934239 scopus 로고    scopus 로고
    • Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia
    • COI: 1:CAS:528:DC%2BD2sXhtFSktrjO, PID: 17847006
    • Dam AH, Koscinski I, Kremer JA, Moutou C, Jaeger AS, Oudakker AR, et al. Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia. Am J Hum Genet. 2007;81:813–20.
    • (2007) Am J Hum Genet , vol.81 , pp. 813-820
    • Dam, A.H.1    Koscinski, I.2    Kremer, J.A.3    Moutou, C.4    Jaeger, A.S.5    Oudakker, A.R.6
  • 40
    • 77954402627 scopus 로고    scopus 로고
    • A newly discovered mutation in PICK1 in a human with globozoospermia
    • PID: 20562896
    • Liu G, Shi QW, Lu GX. A newly discovered mutation in PICK1 in a human with globozoospermia. Asian J Androl. 2010;12:556–60.
    • (2010) Asian J Androl , vol.12 , pp. 556-560
    • Liu, G.1    Shi, Q.W.2    Lu, G.X.3
  • 41
    • 0037216957 scopus 로고    scopus 로고
    • Identification and characterization of a novel human testis-specific Golgi protein, NYD-SP12
    • COI: 1:CAS:528:DC%2BD3sXislSktrk%3D, PID: 12529416
    • Xu M, Xiao J, Chen J, Li J, Yin L, Zhu H, et al. Identification and characterization of a novel human testis-specific Golgi protein, NYD-SP12. Mol Hum Reprod. 2003;9:9–17.
    • (2003) Mol Hum Reprod , vol.9 , pp. 9-17
    • Xu, M.1    Xiao, J.2    Chen, J.3    Li, J.4    Yin, L.5    Zhu, H.6
  • 42
    • 65249113764 scopus 로고    scopus 로고
    • PICK1 deficiency causes male infertility in mice by disrupting acrosome formation
    • COI: 1:CAS:528:DC%2BD1MXktlSntrs%3D, PID: 19258705
    • Xiao N, Kam C, Shen C, Jin W, Wang J, Lee KM, et al. PICK1 deficiency causes male infertility in mice by disrupting acrosome formation. J Clin Invest. 2009;119:802–12.
    • (2009) J Clin Invest , vol.119 , pp. 802-812
    • Xiao, N.1    Kam, C.2    Shen, C.3    Jin, W.4    Wang, J.5    Lee, K.M.6
  • 44
    • 79952469179 scopus 로고    scopus 로고
    • A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation
    • COI: 1:CAS:528:DC%2BC3MXjtFOht78%3D, PID: 21397064
    • Harbuz R, Zouari R, Pierre V, Ben Khelifa M, Kharouf M, Coutton C, et al. A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation. Am J Hum Genet. 2011;88:351–61.
    • (2011) Am J Hum Genet , vol.88 , pp. 351-361
    • Harbuz, R.1    Zouari, R.2    Pierre, V.3    Ben Khelifa, M.4    Kharouf, M.5    Coutton, C.6
  • 45
    • 84865072210 scopus 로고    scopus 로고
    • Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots
    • COI: 1:CAS:528:DC%2BC38XhtFSrtLnJ, PID: 22653751
    • Elinati E, Kuentz P, Redin C, Jaber S, Vanden Meerschaut F, Makarian J, et al. Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots. Hum Mol Genet. 2012;21:3695–702.
    • (2012) Hum Mol Genet , vol.21 , pp. 3695-3702
    • Elinati, E.1    Kuentz, P.2    Redin, C.3    Jaber, S.4    Vanden Meerschaut, F.5    Makarian, J.6
  • 46
    • 84903641307 scopus 로고    scopus 로고
    • A homozygous deletion of the DPY19l2 gene is a cause of globozoospermia in Men from the republic of Macedonia
    • COI: 1:STN:280:DC%2BC2c3ntVCisw%3D%3D
    • Noveski P, Madjunkova S, Maleva I, Sotiroska V, Petanovski Z, Plaseska-Karanfilska D. A homozygous deletion of the DPY19l2 gene is a cause of globozoospermia in Men from the republic of Macedonia. Balk J Med Genet. 2013;16:73–6.
    • (2013) Balk J Med Genet , vol.16 , pp. 73-76
    • Noveski, P.1    Madjunkova, S.2    Maleva, I.3    Sotiroska, V.4    Petanovski, Z.5    Plaseska-Karanfilska, D.6
  • 47
    • 84870012270 scopus 로고    scopus 로고
    • MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia
    • COI: 1:CAS:528:DC%2BC38XhtFant77P, PID: 22627659
    • Coutton C, Zouari R, Abada F, Ben KM, Merdassi G, Triki C, et al. MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia. Hum Reprod. 2012;27:2549–58.
    • (2012) Hum Reprod , vol.27 , pp. 2549-2558
    • Coutton, C.1    Zouari, R.2    Abada, F.3    Ben, K.M.4    Merdassi, G.5    Triki, C.6
  • 48
    • 84882968476 scopus 로고    scopus 로고
    • DPY19L2 gene mutations are a major cause of globozoospermia: identification of three novel point mutations
    • COI: 1:CAS:528:DC%2BC3sXosVehsL4%3D, PID: 23512994
    • Zhu F, Gong F, Lin G, Lu G. DPY19L2 gene mutations are a major cause of globozoospermia: identification of three novel point mutations. Mol Hum Reprod. 2013;19:395–404.
    • (2013) Mol Hum Reprod , vol.19 , pp. 395-404
    • Zhu, F.1    Gong, F.2    Lin, G.3    Lu, G.4
  • 49
    • 0033694801 scopus 로고    scopus 로고
    • Establishment of left/right asymmetry in neuroblast migration by UNC-40/DCC, UNC-73/Trio and DPY-19 proteins in C. elegans
    • COI: 1:CAS:528:DC%2BD3cXosl2is7s%3D, PID: 11023868
    • Honigberg L, Kenyon C. Establishment of left/right asymmetry in neuroblast migration by UNC-40/DCC, UNC-73/Trio and DPY-19 proteins in C. elegans. Development. 2000;127:4655–68.
    • (2000) Development , vol.127 , pp. 4655-4668
    • Honigberg, L.1    Kenyon, C.2
  • 50
    • 33745094419 scopus 로고    scopus 로고
    • Duplication and relocation of the functional DPY19L2 gene within low copy repeats
    • PID: 16526957
    • Carson AR, Cheung J, Scherer SW. Duplication and relocation of the functional DPY19L2 gene within low copy repeats. BMC Genomics. 2006;7:45.
    • (2006) BMC Genomics , vol.7 , pp. 45
    • Carson, A.R.1    Cheung, J.2    Scherer, S.W.3
  • 51
    • 13444302486 scopus 로고    scopus 로고
    • The acrosome-acroplaxome-manchette complex and the shaping of the spermatid head
    • COI: 1:CAS:528:DC%2BD2MXhslKrs7k%3D, PID: 15700535
    • Kierszenbaum AL, Tres LL. The acrosome-acroplaxome-manchette complex and the shaping of the spermatid head. Arch Histol Cytol. 2004;67:271–84.
    • (2004) Arch Histol Cytol , vol.67 , pp. 271-284
    • Kierszenbaum, A.L.1    Tres, L.L.2
  • 52
    • 55549115368 scopus 로고    scopus 로고
    • The biology of infertility: research advances and clinical challenges
    • COI: 1:CAS:528:DC%2BD1cXhtlCjtL%2FM, PID: 18989307
    • Matzuk MM, Lamb DJ. The biology of infertility: research advances and clinical challenges. Nat Med. 2008;14:1197–213.
    • (2008) Nat Med , vol.14 , pp. 1197-1213
    • Matzuk, M.M.1    Lamb, D.J.2
  • 53
    • 77749292220 scopus 로고    scopus 로고
    • microRNAs in the testis: building up male fertility
    • COI: 1:CAS:528:DC%2BC3cXjs12ksL0%3D, PID: 19875496
    • Papaioannou MD, Nef S. microRNAs in the testis: building up male fertility. J Androl. 2010;31:26–33.
    • (2010) J Androl , vol.31 , pp. 26-33
    • Papaioannou, M.D.1    Nef, S.2
  • 54
    • 0037225332 scopus 로고    scopus 로고
    • Sperm chromosomal abnormalities are linked to sperm morphologic deformities
    • PID: 12524092
    • Lewis-Jones I, Aziz N, Seshadri S, Douglas A, Howard P. Sperm chromosomal abnormalities are linked to sperm morphologic deformities. Fertil Steril. 2003;79:212–5.
    • (2003) Fertil Steril , vol.79 , pp. 212-215
    • Lewis-Jones, I.1    Aziz, N.2    Seshadri, S.3    Douglas, A.4    Howard, P.5
  • 56
    • 0035655397 scopus 로고    scopus 로고
    • Familial sperm polyploidy induced by genetic spermatogenesis failure
    • COI: 1:STN:280:DC%2BD38%2FivVOjsQ%3D%3D, PID: 11726589
    • Benzacken B, Gavelle FM, Martin-Pont B, Dupuy O, Lievre N, Hugues JN, et al. Familial sperm polyploidy induced by genetic spermatogenesis failure. Hum Reprod. 2001;16:2646–51.
    • (2001) Hum Reprod , vol.16 , pp. 2646-2651
    • Benzacken, B.1    Gavelle, F.M.2    Martin-Pont, B.3    Dupuy, O.4    Lievre, N.5    Hugues, J.N.6
  • 58
    • 30844465751 scopus 로고    scopus 로고
    • High incidence of chromosomal abnormalities in large-headed and multiple-tailed spermatozoa
    • PID: 16400071
    • Mateu E, Rodrigo L, Prados N, Gil-Salom M, Remohi J, Pellicer A, et al. High incidence of chromosomal abnormalities in large-headed and multiple-tailed spermatozoa. J Androl. 2006;27:6–10.
    • (2006) J Androl , vol.27 , pp. 6-10
    • Mateu, E.1    Rodrigo, L.2    Prados, N.3    Gil-Salom, M.4    Remohi, J.5    Pellicer, A.6
  • 59
    • 34447341449 scopus 로고    scopus 로고
    • Reproductive failure in patients with various percentages of macronuclear spermatozoa: high level of aneuploid and polyploid spermatozoa
    • PID: 17412686
    • Achard V, Paulmyer-Lacroix O, Mercier G, Porcu G, Saias-Magnan J, Metzler-Guillemain C, et al. Reproductive failure in patients with various percentages of macronuclear spermatozoa: high level of aneuploid and polyploid spermatozoa. J Androl. 2007;28:600–6.
    • (2007) J Androl , vol.28 , pp. 600-606
    • Achard, V.1    Paulmyer-Lacroix, O.2    Mercier, G.3    Porcu, G.4    Saias-Magnan, J.5    Metzler-Guillemain, C.6
  • 60
    • 0031934684 scopus 로고    scopus 로고
    • Concurrent use of flow cytometry and fluorescence in-situ hybridization techniques for detecting faulty meiosis in a human sperm sample
    • COI: 1:STN:280:DyaK1c7mvVygsw%3D%3D, PID: 9510012
    • Weissenberg R, Aviram A, Golan R, Lewin LM, Levron J, Madgar I, et al. Concurrent use of flow cytometry and fluorescence in-situ hybridization techniques for detecting faulty meiosis in a human sperm sample. Mol Hum Reprod. 1998;4:61–6.
    • (1998) Mol Hum Reprod , vol.4 , pp. 61-66
    • Weissenberg, R.1    Aviram, A.2    Golan, R.3    Lewin, L.M.4    Levron, J.5    Madgar, I.6
  • 61
    • 0035203782 scopus 로고    scopus 로고
    • Chromosome 15 aneuploidy in the sperm and conceptus of a sibling with variable familial expression of round-headed sperm syndrome
    • COI: 1:STN:280:DC%2BD3MnosVyltQ%3D%3D, PID: 11730761
    • Carrell DT, Wilcox AL, Udoff LC, Thorp C, Campbell B. Chromosome 15 aneuploidy in the sperm and conceptus of a sibling with variable familial expression of round-headed sperm syndrome. Fertil Steril. 2001;76:1258–60.
    • (2001) Fertil Steril , vol.76 , pp. 1258-1260
    • Carrell, D.T.1    Wilcox, A.L.2    Udoff, L.C.3    Thorp, C.4    Campbell, B.5
  • 63
    • 0036067221 scopus 로고    scopus 로고
    • Achievement of pregnancy in globozoospermia with Y chromosome microdeletion after ICSI
    • PID: 12093847
    • Zeyneloglu HB, Baltaci V, Duran HE, Erdemli E, Batioglu S. Achievement of pregnancy in globozoospermia with Y chromosome microdeletion after ICSI. Hum Reprod. 2002;17:1833–6.
    • (2002) Hum Reprod , vol.17 , pp. 1833-1836
    • Zeyneloglu, H.B.1    Baltaci, V.2    Duran, H.E.3    Erdemli, E.4    Batioglu, S.5
  • 64
    • 0037834723 scopus 로고    scopus 로고
    • Sperm chromosome aneuploidy analysis in a man with globozoospermia
    • PID: 12801578
    • Martin RH, Greene C, Rademaker AW. Sperm chromosome aneuploidy analysis in a man with globozoospermia. Fertil Steril. 2003;79:1662–4.
    • (2003) Fertil Steril , vol.79 , pp. 1662-1664
    • Martin, R.H.1    Greene, C.2    Rademaker, A.W.3
  • 65
    • 11044236149 scopus 로고    scopus 로고
    • Chromosome aneuploidy in the spermatozoa of two men with globozoospermia
    • COI: 1:STN:280:DC%2BD2M%2FgtVKmtQ%3D%3D, PID: 15448169
    • Morel F, Douet-Guilbert N, Moerman A, Duban B, Marchetti C, Delobel B, et al. Chromosome aneuploidy in the spermatozoa of two men with globozoospermia. Mol Hum Reprod. 2004;10:835–8.
    • (2004) Mol Hum Reprod , vol.10 , pp. 835-838
    • Morel, F.1    Douet-Guilbert, N.2    Moerman, A.3    Duban, B.4    Marchetti, C.5    Delobel, B.6
  • 66
    • 22244483818 scopus 로고    scopus 로고
    • Higher aneuploidy rates of chromosomes 13, 16, and 21 in a patient with globozoospermia
    • PID: 16009180
    • Ditzel N, El Danasouri I, Just W, Sterzik K. Higher aneuploidy rates of chromosomes 13, 16, and 21 in a patient with globozoospermia. Fertil Steril. 2005;84:217–8.
    • (2005) Fertil Steril , vol.84 , pp. 217-218
    • Ditzel, N.1    El Danasouri, I.2    Just, W.3    Sterzik, K.4
  • 68
    • 52949098307 scopus 로고    scopus 로고
    • Successful pregnancy and childbirth after intracytoplasmic sperm injection with calcium ionophore oocyte activation in a globozoospermic patient
    • PID: 18359025
    • Tejera A, Molla M, Muriel L, Remohi J, Pellicer A, De Pablo JL. Successful pregnancy and childbirth after intracytoplasmic sperm injection with calcium ionophore oocyte activation in a globozoospermic patient. Fertil Steril. 2008;90:1202–5.
    • (2008) Fertil Steril , vol.90 , pp. 1202-1205
    • Tejera, A.1    Molla, M.2    Muriel, L.3    Remohi, J.4    Pellicer, A.5    De Pablo, J.L.6
  • 69
    • 78649933047 scopus 로고    scopus 로고
    • Successful pregnancy in globozoospermia with severe oligoasthenospermia after ICSI
    • COI: 1:STN:280:DC%2BC3M%2FhslCjtA%3D%3D, PID: 21126136
    • Sahu B, Ozturk O, Serhal P. Successful pregnancy in globozoospermia with severe oligoasthenospermia after ICSI. J Obstet Gynaecol. 2010;30:869–70.
    • (2010) J Obstet Gynaecol , vol.30 , pp. 869-870
    • Sahu, B.1    Ozturk, O.2    Serhal, P.3
  • 70
    • 77951652501 scopus 로고    scopus 로고
    • Complete globozoospermia associated with PLCzeta deficiency treated with calcium ionophore and ICSI results in pregnancy
    • COI: 1:STN:280:DC%2BC3cfgsVeiug%3D%3D, PID: 20133201
    • Taylor SL, Yoon SY, Morshedi MS, Lacey DR, Jellerette T, Fissore RA, et al. Complete globozoospermia associated with PLCzeta deficiency treated with calcium ionophore and ICSI results in pregnancy. Reprod Biomed Online. 2010;20:559–64.
    • (2010) Reprod Biomed Online , vol.20 , pp. 559-564
    • Taylor, S.L.1    Yoon, S.Y.2    Morshedi, M.S.3    Lacey, D.R.4    Jellerette, T.5    Fissore, R.A.6
  • 71
    • 79957915781 scopus 로고    scopus 로고
    • Analysis of sperm aneuploidies and DNA fragmentation in patients with globozoospermia or with abnormal acrosomes
    • PID: 21310465
    • Brahem S, Mehdi M, Elghezal H, Saad A. Analysis of sperm aneuploidies and DNA fragmentation in patients with globozoospermia or with abnormal acrosomes. Urology. 2011;77:1343–8.
    • (2011) Urology , vol.77 , pp. 1343-1348
    • Brahem, S.1    Mehdi, M.2    Elghezal, H.3    Saad, A.4
  • 72
    • 80054950730 scopus 로고    scopus 로고
    • Successful childbirth after intracytoplasmic morphologically selected sperm injection without assisted oocyte activation in a patient with globozoospermia
    • COI: 1:STN:280:DC%2BC3MbitFegsA%3D%3D, PID: 21857011
    • Sermondade N, Hafhouf E, Dupont C, Bechoua S, Palacios C, Eustache F, et al. Successful childbirth after intracytoplasmic morphologically selected sperm injection without assisted oocyte activation in a patient with globozoospermia. Hum Reprod. 2011;26:2944–9.
    • (2011) Hum Reprod , vol.26 , pp. 2944-2949
    • Sermondade, N.1    Hafhouf, E.2    Dupont, C.3    Bechoua, S.4    Palacios, C.5    Eustache, F.6
  • 73
    • 83155181545 scopus 로고    scopus 로고
    • Apport de l’exploration cytogénétique et ultrastructurale dans le pronostic de fertilité des sujets globozoospermiques
    • Zhioua A, Merdassi G, Bhouri R, Ferfouri F, Ben Ammar A, Amouri A, et al. Apport de l’exploration cytogénétique et ultrastructurale dans le pronostic de fertilité des sujets globozoospermiques. Andrologie. 2011;21:240–6.
    • (2011) Andrologie , vol.21 , pp. 240-246
    • Zhioua, A.1    Merdassi, G.2    Bhouri, R.3    Ferfouri, F.4    Ben Ammar, A.5    Amouri, A.6
  • 74
    • 0030255580 scopus 로고    scopus 로고
    • Apoptosis in human ejaculated sperm cells (notulae seminologicae 9)
    • COI: 1:STN:280:DyaK2s%2FoslyjsQ%3D%3D, PID: 8933742
    • Baccetti B, Collodel G, Piomboni P. Apoptosis in human ejaculated sperm cells (notulae seminologicae 9). J Submicrosc Cytol Pathol. 1996;28:587–96.
    • (1996) J Submicrosc Cytol Pathol , vol.28 , pp. 587-596
    • Baccetti, B.1    Collodel, G.2    Piomboni, P.3
  • 77
    • 70749128762 scopus 로고    scopus 로고
    • A successful pregnancy and live birth after intracytoplasmic sperm injection with globozoospermic sperm and electrical oocyte activation
    • Egashira A, Murakami M, Haigo K, Horiuchi T, Kuramoto T. A successful pregnancy and live birth after intracytoplasmic sperm injection with globozoospermic sperm and electrical oocyte activation. Fertil Steril. 2009;92:2037e5–9.
    • (2009) Fertil Steril , vol.92 , pp. 20375-20379
    • Egashira, A.1    Murakami, M.2    Haigo, K.3    Horiuchi, T.4    Kuramoto, T.5


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