Zacytuj

1. Meschede D, Lemcke B, Behre HM et al. Clustering of male infertility in the families of couples treated with intracytoplasmic sperm injection. Hum Reprod 2000, 15(7):1604-1608. Search in Google Scholar

2. Zorrilla M & Yatsenko AN. The genetics of infertility: current status of the field. Curr Genet Med Rep. 2013, 1, 247-260. Search in Google Scholar

3. Behre HM, Bergmann M, Simoni M et al. Source Endotext [Internet]. South Dartmouth (MA): MDText.com, p. 2000, 2015. Search in Google Scholar

4. Bashamboo A, Ferraz-de-Souza B, Lourenço D et al. Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1. Am. J. Hum. Genet. 2010, 87, 505-512. Search in Google Scholar

5. Ferlin A, Rocca MS, Vinanzi C et al. Mutational screening of NR5A1 gene encoding steroidogenic factor 1 in cryptorchidism and male factor infertility and functional analysis of seven undescribed mutations. Fertil Steril. 2015, 104, 163. e1-169.e1. Search in Google Scholar

6. Lopes AM, Aston KI, Thompson E et al. Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1. PLoS Genet. 2013, 9, e1003349. Search in Google Scholar

7. Yatsenko AN, Georgiadis AP, Röpke A et al. X-linked TEX11 mutations, meiotic arrest, and azoospermia in infertile men. N Engl. J Med. 2015, 372, 2097-2107. Search in Google Scholar

8. Borgmann J, Tüttelmann F, Dworniczak B et al. The human RHOX gene cluster: target genes and functional analysis of gene variants in infertile men. Hum. Mol. Genet. 2016, 25, 4898-4910. Search in Google Scholar

9. Hughes JF, Skaletsky H, Koutseva N et al. Sex chromosometo-autosome transposition events counter Y-chromosome gene loss in mammals. Genome Biol. 2015, 16, 104. Search in Google Scholar

10. Charlesworth D, Charlesworth B. Sex chromosomes: evolution of the weird and wonderful. Curr Biol. 2005, 15, R129-R131. (doi:10.1016/j.cub.2005.02.011) Search in Google Scholar

11. Lyon M. Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature. 1961, 190, 372-373. Search in Google Scholar

12. Kalantry S, Purushothaman S, Bowen RB et al. Evidence of Xist RNA-independent initiation of mouse imprinted X-chromosome inactivation. Nature. 2009, 460, 647-651. Search in Google Scholar

13. Barr M, Bertram E. A morphological distinction between neurones of the male and female, and the behaviour of the nucleolar satellite during accelerated nucleoprotein synthesis. Nature. 1949, 163, 676. Search in Google Scholar

14. Disteche CM. Escape from X inactivation in human and mouse. Trends Genet. 1995, 11, 17-22. Search in Google Scholar

15. Burgoyne PS. Genetic homology and crossing over in the X and Y chromosomes of Mammals. Hum. Genet. 1982, 61, 85-90. Search in Google Scholar

16. Polani PE. Pairing of X and Y chromosomes, non-inactivation of X-linked genes, and the maleness factor. Hum. Genet. 1982, 60, 207-211. Search in Google Scholar

17. Helena Mangs A, Morris BJ. The human pseudoautosomal region (PAR): origin, function and future. Curr Genomics. 2007, 8, 129-136. Search in Google Scholar

18. Tjio JH, Levan A. The chromosome number of man. Hereditas. 1956, 42, 1-6. Search in Google Scholar

19. Jacobs PA, Strong JA. A case of human intersexuality having possible XXY sex-determining mechanism. Nature. 1959, 183, 302-303. Search in Google Scholar

20. Rives N, Simeon N, Milazzo JP et al. Meiotic segregation of sex chromosomes in mosaic and non-mosaic XYY males: case reports and review of the literature. Int J Androl. 2003, 26, 242-249. Search in Google Scholar

21. Otter M, Schrander-Stumpel CTRM, Curfs LMG. Triple X syndrome: a review of the literature. Eur J Hum Genet. 2010, 18, 265-271. Search in Google Scholar

22. Kim IW, Khadilkar AC, Ko EY, Sabanegh ES. 47,XYY syndrome and male infertility. Rev Urol. 2013, 15(4):188-196. Search in Google Scholar

23. Charlesworth B, Charlesworth D. The degeneration of Y chromosomes. Phil. Trans. R. Soc. Lond. B. 2000, 355, 1563-1572. Search in Google Scholar

24. Heard E, Turner J. Function of the sex chromosomes in mammalian fertility. Cold Spring Harb Perspect Biol. 2011, 3(10):a002675. Search in Google Scholar

25. Assche E Van, Bonduelle M, Tournaye H et al I. Cytogenetics of infertile men. Hum Reprod. 1996, 11 (Supplement 4):1-24. Search in Google Scholar

26. Ma S, Yuen BH, Penaherrera M et al. ICSI and the transmission of X-autosomal translocation: a threegeneration evaluation of X;20 translocation: case report. Hum Reprod. 2003, 18(7):1377-1382. Search in Google Scholar

27. Röpke A, Stratis Y, Dossow-Scheele D et al. Mosaicism for an unbalanced Y;21 translocation in an infertile man: a case report. J Assist Reprod Genet. 2013, 30(12):1553-1558. Search in Google Scholar

28. Redon R, Ishikawa S, Fitch KR et al. Global variation in copy number in the human genome. Nature. 2006, 444, 444-454. Search in Google Scholar

29. McPhaul MJ, Marcelli M, Zoppi S et al. Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene. J Clin Invest. 1992, 90, 2097-2101. Search in Google Scholar

30. Spada AR La, Wilson EM, Lubahn DB et al. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature. 1991; 352: 77-79. Search in Google Scholar

31. Röpke A, Allhoff E, Wieacker P. Mutationen des androgenrezeptor-gens als mögliche ursache der antiandrogenresistenz beim prostatakarzinom. Journal of Reproductive Medicine and Endocrinology 2004, 1(3):194-201. Search in Google Scholar

32. McCrea E, Sissung TM, Price DK et al. Androgen receptor variation affects prostate cancer progression and drug resistance. Pharmacol Res. 2016, 114, 152-162. Search in Google Scholar

33. Wilson JD, Harrod MJ, Goldstein JL et al. Familial incomplete male pseudohermaphroditism, type 1. Evidence for androgen resistance and variable clinical manifestations in a family with the Reifenstein syndrome. N Engl. J Med. 1974, 290, 1097-1103. Search in Google Scholar

34. Brinkmann AO. Molecular basis of androgen insensitivity. Mol Cell Endocrinol. 2001, 179(1-2):105-109. Search in Google Scholar

35. Gao T, Marcelli M, McPhaul MJ. Transcriptional activation and transient expression of the human androgen receptor. J Steroid Bioch Mol Biol. 1996, 59(1):9-20. Search in Google Scholar

36. Pan B, Li R, Chen Y et al. Genetic association between androgen receptor gene CAG repeat length polymorphism and male infertility: a meta-analysis. Medicine. 2016, 95, e2878. (doi:10.1097/MD.0000000000002878) Search in Google Scholar

37. Meyts ERD, Leffers H, Petersen JH et al. CAG repeat length in androgen-receptor gene and reproductive variables in fertile and infertile men. Lancet. 2002, 359, 44-46. Search in Google Scholar

38. Ferlin A, Bartoloni L, Rizzo G et al. Androgen receptor gene CAG and GGC repeat lengths in idiopathic male infertility. Mol Hum Reprod. 2004, 10, 417-421. Search in Google Scholar

39. Ruhayel Y, Lundin K, Giwercman Y et al. Androgen receptor gene GGN and CAG polymorphisms among severely oligozoospermic and azoospermic Swedish men. Hum Reprod. 2004, 19, 2076-2083. Search in Google Scholar

40. Adelman CA, Petrini JHJ. ZIP4H (TEX11) deficiency in the mouse impairs meiotic double strand break repair and the regulation of crossing over. PLoS Genet. 2008, 4, e1000042. (doi:10.1371/journal.pgen.1000042) Search in Google Scholar

41. Richardson EM, Bleiziffer A, Tuttelmann F et al. Epigenetic regulation of the RHOX homeobox gene cluster and its association with human male infertility. Hum Mol Genet. 2014, 23(1):12-23 Search in Google Scholar

42. Busada JT, Velte EK, Serra N et al. Rhox13 is required for a quantitatively normal first wave of spermatogenesis in mice. Reproduction. 2016, 152(5):379-388. Search in Google Scholar

43. Song WH, Bettegowda A, Lake BB et al. The Homeobox Transcription Factor RHOX10 Drives Mouse Spermatogonial Stem Cell Establishment. Cell Rep. 2016, 17(1):149-164 Search in Google Scholar

eISSN:
2719-5384
Język:
Angielski
Częstotliwość wydawania:
4 razy w roku
Dziedziny czasopisma:
Medicine, Basic Medical Science, Immunology, Clinical Medicine, other