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“Detection of Y chromosome microdeletions and mitochondrial DNA mutations in male infertility patients”, vol. 11, pp. 1039-1048, 2012.
, Agarwal A, Makker K and Sharma R (2008). Clinical relevance of oxidative stress in male factor infertility: an update. Am. J. Reprod. Immunol. 59: 2-11.
http://dx.doi.org/10.1111/j.1600-0897.2007.00559.x
PMid:18154591
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http://dx.doi.org/10.1016/0012-1606(89)90178-4
Balkan M, Tekes S and Gedik A (2008). Cytogenetic and Y chromosome microdeletion screening studies in infertile males with oligozoospermia and azoospermia in Southeast Turkey. J. Assist. Reprod. Genet. 25: 559-565.
http://dx.doi.org/10.1007/s10815-008-9272-8
PMid:18953646 PMCid:2593766
Burgoyne PS (1998). The mammalian Y chromosome: a new perspective. Bioessays 20: 363-366.
http://dx.doi.org/10.1002/(SICI)1521-1878(199805)20:5<363::AID-BIES2>3.0.CO;2-P
Carra E, Sangiorgi D, Gattuccio F and Rinaldi AM (2004). Male infertility and mitochondrial DNA. Biochem. Biophys. Res. Commun. 322: 333-339.
http://dx.doi.org/10.1016/j.bbrc.2004.07.112
PMid:15313211
Chen GF, Chan FL, Hong BF, Chan LW, et al. (2004). Mitochondrial DNA mutations in chemical carcinogen-induced rat bladder and human bladder cancer. Oncol. Rep. 12: 463-472.
PMid:15254717
Clayton DA, Doda JN and Friedberg EC (1974). The absence of a pyrimidine dimer repair mechanism in mammalian mitochondria. Proc. Natl. Acad. Sci. U. S. A. 71: 2777-2781.
http://dx.doi.org/10.1073/pnas.71.7.2777
Cummins J (1998). Mitochondrial DNA in mammalian reproduction. Rev. Reprod. 3: 172-182.
http://dx.doi.org/10.1530/ror.0.0030172
PMid:9829552
Cummins JM, Jequier AM, Martin R, Mehmet D, et al. (1998). Semen levels of mitochondrial DNA deletions in men attending an infertility clinic do not correlate with phenotype. Int. J. Androl. 21: 47-52.
http://dx.doi.org/10.1046/j.1365-2605.1998.00093.x
Dada R, Gupta NP and Kucheria K (2006). Cytogenetic and molecular analysis of male infertility: Y chromosome deletion during nonobstructive azoospermia and severe oligozoospermia. Cell Biochem. Biophys. 44: 171-177.
http://dx.doi.org/10.1385/CBB:44:1:171
Erasmuson T, Sin IL and Sin FY (2003). Absence of association of androgen receptor trinucleotide expansion and poor semen quality. Int. J. Androl. 26: 46-51.
http://dx.doi.org/10.1046/j.1365-2605.2003.00388.x
PMid:12534937
Fattoruso O, Zarrilli S, Coto I, De Rosa M, et al. (2009). Prevalence of Y microdeletions in azoospermic and severe oligozoospermic men in Southern Italy: application of a rapid capillary electrophoresis method. J. Endocrinol. Invest. 32: 223-227.
PMid:19542738
Folgero T, Bertheussen K, Lindal S, Torbergsen T, et al. (1993). Mitochondrial disease and reduced sperm motility. Hum. Reprod. 8: 1863-1868.
PMid:8288752
Hargreave TB (2000). Genetic basis of male infertility. Brit. Med. Bull. 56: 650-671.
http://dx.doi.org/10.1258/0007142001903454
PMid:11255552
Holyoake AJ, Sin IL, Benny PS and Sin FY (1999). Association of a novel human mtDNA ATPase6 mutation with immature sperm cells. Andrologia 31: 339-345.
http://dx.doi.org/10.1046/j.1439-0272.1999.00150.x
PMid:10643508
Holyoake AJ, McHugh P, Wu M, O’Carroll S, et al. (2001). High incidence of single nucleotide substitutions in the mitochondrial genome is associated with poor semen parameters in men. Int. J. Androl. 24: 175-182.
http://dx.doi.org/10.1046/j.1365-2605.2001.00292.x
PMid:11380706
Kao SH, Chao HT and Wei YH (1998). Multiple deletions of mitochondrial DNA are associated with the decline of motility and fertility of human spermatozoa. Mol. Hum. Reprod. 4: 657-666.
http://dx.doi.org/10.1093/molehr/4.7.657
PMid:9701788
Kumar R, Venkatesh S, Kumar M, Tanwar M, et al. (2009). Oxidative stress and sperm mitochondrial DNA mutation in idiopathic oligoasthenozoospermic men. Indian J. Biochem. Biophys. 46: 172-177.
PMid:19517995
Lestienne P, Reynier P, Chretien MF, Penisson-Besnier I, et al. (1997). Oligoasthenospermia associated with multiple mitochondrial DNA rearrangements. Mol. Hum. Reprod. 3: 811-814.
http://dx.doi.org/10.1093/molehr/3.9.811
PMid:9358008
McLachlan RI and O’Bryan MK (2010). Clinical Review: State of the art for genetic testing of infertile men. J. Clin. Endocrinol. Metab. 95: 1013-1024.
http://dx.doi.org/10.1210/jc.2009-1925
Moore FL and Reijo-Pera RA (2000). Male sperm motility dictated by mother’s mtDNA. Am. J. Hum. Genet. 67: 543-548.
http://dx.doi.org/10.1086/303061
PMid:10936105
O’Connell M, McClure N and Lewis SE (2002a). A comparison of mitochondrial and nuclear DNA status in testicular sperm from fertile men and those with obstructive azoospermia. Hum. Reprod. 17: 1571-1577.
http://dx.doi.org/10.1093/humrep/17.6.1571
PMid:12042280
O’Connell M, McClure N and Lewis SE (2002b). Mitochondrial DNA deletions and nuclear DNA fragmentation in testicular and epididymal human sperm. Hum. Reprod. 17: 1565-1570.
http://dx.doi.org/10.1093/humrep/17.6.1565
PMid:12042279
Qureshi SJ, Ross AR, Ma K, Cooke HJ, et al. (1996). Polymerase chain reaction screening for Y chromosome microdeletions: a first step towards the diagnosis of genetically-determined spermatogenic failure in men. Mol. Hum. Reprod. 2: 775-779.
http://dx.doi.org/10.1093/molehr/2.10.775
PMid:9239696
Ruiz-Pesini E, Diez C, Lapena AC, Perez-Martos A, et al. (1998). Correlation of sperm motility with mitochondrial enzymatic activities. Clin. Chem. 44: 1616-1620.
PMid:9702947
Ruiz-Pesini E, Lapena AC, Diez-Sanchez C, Perez-Martos A, et al. (2000). Human mtDNA haplogroups associated with high or reduced spermatozoa motility. Am. J. Hum. Genet. 67: 682-696.
http://dx.doi.org/10.1086/303040
PMid:10936107
Ruiz-Pesini E, Lott MT, Procaccio V, Poole JC, et al. (2007). An enhanced MITOMAP with a global mtDNA mutational phylogeny. Nucleic Acids Res. 35: D823-D828.
http://dx.doi.org/10.1093/nar/gkl927
PMid:17178747 PMCid:1781213
Sargin CF, Berker-Karauzum S, Manguoglu E, Erdogru T, et al. (2004). AZF microdeletions on the Y chromosome of infertile men from Turkey. Ann. Genet. 47: 61-68.
http://dx.doi.org/10.1016/j.anngen.2003.09.002
PMid:15050875
Selvi RD, Vanniarajan A, Gupta NJ, Chakravarty B, et al. (2006). A novel missense mutation C11994T in the mitochondrial ND4 gene as a cause of low sperm motility in the Indian subcontinent. Fertil. Steril. 86: 1783-1785.
http://dx.doi.org/10.1016/j.fertnstert.2006.04.044
PMid:17069814
Singh AR, Vrtel R, Vodicka R and Dhaifalah I (2006). Genetic factors in male infertility and their implications. Int. J. Hum. Genet. 6: 163-169.
Solano A, Playán A, López-Pérez MJ and Montoya J (2001). Genetic diseases of human mitochondrial DNA. Salud Pública México 43: 1-11.
Spiropoulos J, Chinnery PF and Turnbull DM (1999). Pathogenic mitochondrial DNA mutations and human reproduction. Hum. Fertil. 2: 133-137.
http://dx.doi.org/10.1080/1464727992000198511
PMid:11844341
Taylor RW and Turnbull DM (2005). Mitochondrial DNA mutations in human disease. Nat. Rev. Genet. 6: 389-402.
http://dx.doi.org/10.1038/nrg1606
PMid:15861210 PMCid:1762815
Thangaraj K, Joshi MB, Reddy AG, Rasalkar AA, et al. (2003a). Sperm mitochondrial mutations as a cause of low sperm motility. J. Androl. 24: 388-392.
PMid:12721215
Thangaraj K, Gupta NJ, Pavani K, Reddy AG, et al. (2003b). Y chromosome deletions in azoospermic men in India. J. Androl. 24: 588-597.
PMid:12826698
Vogt PH, Edelmann A, Kirsch S, Henegariu O, et al. (1996). Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum. Mol. Genet. 5: 933-943.
http://dx.doi.org/10.1093/hmg/5.7.933
PMid:8817327
Wallace DC (1992). Diseases of the mitochondrial DNA. Annu. Rev. Biochem. 61: 1175-1212.
http://dx.doi.org/10.1146/annurev.bi.61.070192.005523
PMid:1497308