SEARCH

SEARCH BY CITATION

References

  • Aschim EL, Saether T., Wiger R., Grotmol T., Haugen TB. Differential distribution of splice variants of estrogen receptor beta in human testicular cells suggests specific functions in spermatogenesis. J Steroid Biochem Mol Biol. 2004; 92: 97106.
  • Beilin J., Ball EM, Favaloro JM, Zajac JD. Effect of the androgen receptor CAG repeat polymorphism on transcriptional activity: specificity in prostate and non-prostate cell lines. J Mol Endocrinol. 2000; 25: 8596.
  • Bhasin S.. Approach to the infertile man. J Clin Endocrinol Metab. 2007; 92: 19952004.
  • Castro A., Codner E., Kaune H., Lopez P., Vantman D., Cassorla F.. Absence of Y chromosome microdeletions in patients with cryptorchidism and hypospadias. J Pediatr Endocrinol Metab. 2004; 17: 143148.
  • Crabbe P., Bogaert V., de Bacquer D., Goemaere S., Zmierczak H., Kaufman JM. Part of the interindividual variation in serum testosterone levels in healthy men reflects differences in androgen sensitivity and feedback set point: contribution of the androgen receptor polyglutamine tract polymorphism. J Clin Endocrinol Metab. 2007; 92: 36043610.
  • Dadze S., Wieland C., Jakubiczka S., Funke K., Schroder E., Royer-Pokora B., Willers R., Wieacker PF. The size of the CAG repeat in exon 1 of the androgen receptor gene shows no significant relationship to impaired spermatogenesis in an infertile Caucasoid sample of German origin. Mol Hum Reprod. 2000; 6: 207214.
  • Davis-Dao CA, Tuazon ED, Sokol RZ, Cortessis VK. Male infertility and variation in CAG repeat length in the androgen receptor gene: a meta-analysis. J Clin Endocrinol Metab. 2007; 92: 43194326.
  • Dejager S., Bry-Gauillard H., Bruckert E., Eymard B., Salachas F., LeGuern E., Tardieu S., Chadarevian R., Giral P., Turpin G.. A comprehensive endocrine description of Kennedy's disease revealing androgen insensitivity linked to CAG repeat length. J Clin Endocrinol Metab. 2002; 87: 38933901.
  • Dowsing AT, Yong EL, Clark M., McLachlan RI, de Kretser DM, Trounson AO. Linkage between male infertility and trinucleotide repeat expansion in the androgen-receptor gene. Lancet. 1999; 354: 640643.
  • Ferlin A., Arredi B., Foresta C.. Genetic causes of male infertility. Reprod Toxicol. 2006; 22: 133141.
  • Ferlin A., Arredi B., Speltra E., Cazzadore C., Selice R., Garolla A., Lenzi A., Foresta C.. Molecular and clinical characterization of Y chromosome microdeletions in infertile men: a 10-year experience in Italy. J Clin Endocrinol Metab. 2007; 92: 762770.
  • Ferlin A., Bartoloni L., Rizzo G., Roverato A., Garolla A., Foresta C.. Androgen receptor gene CAG and GGC repeat lengths in idiopathic male infertility. Mol Hum Reprod. 2004; 10: 417421.
  • Ferlin A., Garolla A., Bettella A., Bartoloni L., Vinanzi C., Roverato A., Foresta C.. Androgen receptor gene CAG and GGC repeat lengths in cryptorchidism. Eur J Endocrinol. 2005; 152: 419425.
  • Ferlin A., Zuccarello D., Zuccarello B., Chirico MR, Zanon GF, Foresta C.. Genetic alterations associated with cryptorchidism. JAMA. 2008; 300: 22712276.
  • Foresta C.. Y chromosome microdeletions and alterations of spermatogenesis. Endocr Rev. 2001; 22: 226239.
  • Foresta C., Ferlin A., Garolla A., Moro E., Pistorello M., Barbaux S., Rossato M.. High frequency of well-defined Y-chromosome deletions in idiopathic Sertoli cell-only syndrome. Hum Reprod. 1998; 13: 302307.
  • Foresta C., Moro E., Ferlin A.. Y chromosome microdeletions and alterations of spermatogenesis. Endocr Rev. 2001; 22: 226239.
  • Foresta C., Zuccarello D., Garolla A., Ferlin A.. Role of hormones, genes, and environment in human cryptorchidism. Endocr Rev. 2008; 29: 560580.
  • Hiort O., Holterhus PM. The molecular basis of male sexual differentiation. Eur J Endocrinol. 2000; 142: 101110.
  • Hiort O., Holterhus PM, Horter T., Schulze W., Kremke B., Bals-Pratsch M., Sinnecker GH, Kruse K.. Significance of mutations in the androgen receptor gene in males with idiopathic infertility. J Clin Endocrinol Metab. 2000; 85: 28102815.
  • Jezek D., Knuth UA, Schulze W.. Successful testicular sperm extraction (TESE) in spite of high serum follicle stimulating hormone and azoospermia: correlation between testicular morphology, TESE results, semen analysis and serum hormone values in 103 infertile men. Hum Reprod. 1998; 13: 12301234.
  • Johnsen SG. Testicular biopsy score count—a method for registration of spermatogenesis in human testes: normal values and results in 335 hypogonadal males. Hormones. 1970; 1: 225.
  • Krausz C., Bussani-Mastellone C., Granchi S., McElreavey K., Scarselli G., Forti G.. Screening for microdeletions of Y chromosome genes in patients undergoing intracytoplasmic sperm injection. Hum Reprod. 1999; 14: 17171721.
  • Krausz C., Giachini C.. Genetic risk factors in male infertility. Arch Androl. 2007; 53: 125133.
  • Kruger TF, Ackerman SB, Simmons KF, Swanson RJ, Brugo SS, Acosta AA. A quick, reliable staining technique for human sperm morphology. Arch Androl. 1987; 18: 275277.
  • La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature. 1991; 352: 7779.
  • Lubahn DB, Brown TR, Simental JA, Higgs HN, Migeon CJ, Wilson EM, French FS. Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity. Proc Natl Acad Sci U S A. 1989; 86: 95349538.
  • Lumbroso R., Beitel LK, Vasiliou DM, Trifiro MA, Pinsky L.. Codon-usage variants in the polymorphic (GGN)n trinucleotide repeat of the human androgen receptor gene. Hum Genet. 1997; 101: 4346.
  • Lundin KB, Giwercman A., Dizeyi N., Giwercman YL. Functional in vitro characterisation of the androgen receptor GGN polymorphism. Mol Cell Endocrinol. 2007; 264: 184187.
  • Lundin KB, Giwercman A., Richthoff J., Abrahamsson PA, Giwercman YL. No association between mutations in the human androgen receptor GGN repeat and inter-sex conditions. Mol Hum Reprod. 2003; 9: 375379.
  • Martinez-Garza SG, Gallegos-Rivas MC, Vargas-Maciel M., Rubio-Rubio JM, de Los ME Monteros-Rodriguez, Gonzalez-Ortega C., Cancino-Villarreal P., de Lara LG, Gutierrez-Gutierrez AM. Genetic screening in infertile Mexican men: chromosomal abnormalities, Y chromosome deletions, and androgen receptor CAG repeat length. J Androl. 2008; 29: 654660.
  • Mifsud A., Sim CK, Boettger-Tong H., Moreira S., Lamb DJ, Lipshultz LI, Yong EL. Trinucleotide (CAG) repeat polymorphisms in the androgen receptor gene: molecular markers of risk for male infertility. Fertil Steril. 2001; 75: 275281.
  • Nenonen H., Björk C., Skjaerpe PA, Giwercman A., Rylander L., Svartberg J., Giwercman YL. CAG repeat number is not inversely associated with androgen receptor activity in vitro. Mol Hum Reprod. 2010; 16: 153157.
  • Palazzolo I., Gliozzi A., Rusmini P., Sau D., Crippa V., Simonini F., Onesto E., Bolzoni E., Poletti A.. The role of the polyglutamine tract in androgen receptor. J Steroid Biochem Mol Biol. 2008; 108: 245253.
  • Patrizio P., Leonard DG, Chen KL, Hernandez-Ayup S., Trounson AO. Larger trinucleotide repeat size in the androgen receptor gene of infertile men with extremely severe oligozoospermia. J Androl. 2001; 22: 444448.
  • Quigley CA, de Bellis A., Marschke KB, el-Awady MK, Wilson EM, French FS. Androgen receptor defects: historical, clinical, and molecular perspectives. Endocr Rev. 1995; 16: 271321.
  • Ruhayel Y., Lundin K., Giwercman Y., Hallden C., Willen M., Giwercman A.. Androgen receptor gene GGN and CAG polymorphisms among severely oligozoospermic and azoospermic Swedish men. Hum Reprod. 2004; 19: 20762083.
  • Sasagawa I., Suzuki Y., Ashida J., Nakada T., Muroya K., Ogata T.. CAG repeat length analysis and mutation screening of the androgen receptor gene in Japanese men with idiopathic azoospermia. J Androl. 2001; 22: 804808.
  • Sasagawa I., Suzuki Y., Tateno T., Nakada T., Muroya K., Ogata T.. CAG repeat length of the androgen receptor gene in Japanese males with cryptorchidism. Mol Hum Reprod. 2000; 6: 973975.
  • Sasaki M., Kaneuchi M., Sakuragi N., Fujimoto S., Carroll PR, Dahiya R.. The polyglycine and polyglutamine repeats in the androgen receptor gene in Japanese and Caucasian populations. Biochem Biophys Res Commun. 2003; 312: 12441247.
  • Staden R.. The Staden sequence analysis package. Mol Biotechnol. 1996; 5: 233241.
  • Tut TG, Ghadessy FJ, Trifiro MA, Pinsky L., Yong EL. Long polyglutamine tracts in the androgen receptor are associated with reduced trans-activation, impaired sperm production, and male infertility. J Clin Endocrinol Metab. 1997; 82: 37773782.
  • Vogt P.. Human chromosome deletions in Yq11, AZF candidate genes and male infertility: history and update. Mol Hum Reprod. 1998; 4: 739744.
  • von Eckardstein S., Syska A., Gromoll J., Kamischke A., Simoni M., Nieschlag E.. Inverse correlation between sperm concentration and number of androgen receptor CAG repeats in normal men. J Clin Endocrinol Metab. 2001; 86: 25852590.
  • Wallerand H., Remy-Martin A., Chabannes E., Bermont L., Adessi GL, Bittard H.. Relationship between expansion of the CAG repeat in exon 1 of the androgen receptor gene and idiopathic male infertility. Fertil Steril. 2001; 76: 769774.
  • Westerveld H., Visser L., Tanck M., van der Veen F., Repping S.. CAG repeat length variation in the androgen receptor gene is not associated with spermatogenic failure. Fertil Steril. 2008; 89: 253259.
  • World Health Organization. Laboratory Manual for the Examination of Human Semen and Sperm-Cervical Mucus Interaction. 4th ed. Cambridge, United Kingdom: Cambridge University Press; 1999.
  • Zuccarello D., Ferlin A., Vinanzi C., Prana E., Garolla A., Callewaert L., Claessens F., Brinkmann AO, Foresta C.. Detailed functional studies on androgen receptor mild mutations demonstrate their association with male infertility. Clin Endocrinol (Oxf). 2008; 68: 580588.