Aksglaede L, Link K, Giwercman A, Jørgensen N, Skakkebaek NE, Juul A. 47, XXY Klinefelter syndrome: clinical characteristics and age-specific recommendations for medical management. Am J Med Genet C Semin Med Genet. 2013;163C:55–63.
Article
PubMed
Google Scholar
Maiburg M, Repping S, Giltay J. The genetic origin of Klinefelter syndrome and its effect on spermatogenesis. Fertil Steril. 2012;98:253–60.
Article
PubMed
Google Scholar
Ferlin A, Raicu F, Gatta V, Zuccarello D, Palka G, Foresta C. Male infertility: role of genetic background. Reprod Biomed Online. 2007;14:734–45.
Article
CAS
PubMed
Google Scholar
De Sanctis V, Ciccone S. Fertility preservation in adolescents with Klinefelter’s syndrome. Pediatr Endocrinol Rev Suppl. 2010;1:178–81.
Google Scholar
Foresta C, Caretta N, Palego P, Ferlin A, Zuccarello D, Lenzi A, et al. Reduced artery diameters in Klinefelter syndrome. Int J Androl. 2012;35:720–5.
Article
CAS
PubMed
Google Scholar
Anawalt BD. Approach to male infertility and induction of spermatogenesis. J Clin Endocrinol Metab. 2013;98:3532–42.
Article
PubMed Central
CAS
PubMed
Google Scholar
Aksglaede L, Wikström AM, Rajpert-De Meyts E, Dunkel L, Skakkebaek NE, Juul A. Natural history of seminiferous tubule degeneration in Klinefelter syndrome. Hum Reprod Update. 2006;12:39–48.
Article
PubMed
Google Scholar
Pessia E, Makino T, Bailly-Bechet M, McLysaght A, Marais GA. Mammalian X chromosome inactivation evolved as a dosage-compensation mechanism for dosage-sensitive genes on the X chromosome. Proc Natl Acad Sci U S A. 2012;109:5346–51.
Article
PubMed Central
CAS
PubMed
Google Scholar
Gatta V, Raicu F, Ferlin A, Antonucci I, Scioletti AP, Garolla A, et al. Testis transcriptome analysis in male infertility: new insight on the pathogenesis of oligo-azoospermia in cases with and without AZFc microdeletion. BMC Genomics. 2010;11:401.
Article
PubMed Central
PubMed
Google Scholar
Gatta V, D’Aurora M, Lanuti P, Pierdomenico L, Sperduti S, Palka G, et al. Gene expression modifications in Wharton’s Jelly mesenchymal stem cells promoted by prolonged in vitro culturing. BMC Genomics. 2013;14:635.
Article
PubMed Central
CAS
PubMed
Google Scholar
Storey JD, Tibshirani R. Statistical methods for identifying differentially expressed genes in DNA microarrays. Methods Mol Biol. 2003;224:149–57.
CAS
PubMed
Google Scholar
Gatta V, Tatone C, Ciriminna R, Vento M, Franchi S, D’Aurora M, et al. Gene expression pro of cumulus cells obtained from women treated with recombinant human luteinizing hormone + recombinant human follicle-stimulating hormone or highly purified human menopausal gonadotropin versus recombinant human follicle-stimulating hormone alone. Fertil Steril. 2013;99:2000–8.
Article
CAS
PubMed
Google Scholar
Werler S, Poplinski A, Gromoll J, Wistuba J. Expression of selected genes escaping from X inactivation in the 41, XX(Y)* mouse model for Klinefelter’s syndrome. Acta Paediatr. 2011;100:885–91.
Article
CAS
PubMed
Google Scholar
Wang PJ, McCarrey JR, Yang F, Page DC. An abundance of X-linked genes expressed in spermatogonia. Nat Genet. 2001;27:422–6.
Article
PubMed
Google Scholar
Bernard DJ. Both SMAD2 and SMAD3 mediate activin-stimulated expression of the follicle-stimulating hormone beta subunit in mouse gonadotrope cells. Mol Endocrinol. 2004;18:606–23.
Article
CAS
PubMed
Google Scholar
Grataroli R, Vindrieux D, Selva J, Felsenheld C, Ruffion A, Decaussin M, et al. Characterization of tumour necrosis factor-alpha-related apoptosis-inducing ligand and its receptors in the adult human testis. Mol Hum Reprod. 2004;10:123–8.
Article
CAS
PubMed
Google Scholar
Ge RS, Hardy MP. Decreased cyclin A2 and increased cyclin G1 levels coincide with loss of proliferative capacity in rat Leydig cells during pubertal development. Endocrinology. 1997;138:3719–26.
CAS
PubMed
Google Scholar
Caires KC, de Avila J, McLean DJ. Vascular endothelial growth factor regulates germ cell survival during establishment of spermatogenesis in the bovine testis. Reproduction. 2009;138:667–77.
Article
CAS
PubMed
Google Scholar
Tassistro V, Ghalamoun-Slami R, Saias-Magnan J, Guichaoua MR. Chronology of meiosis & synaptonemal complex abnormalities in normal & abnormal spermatogenesis. Indian J Med Res. 2009;129:268–78.
PubMed
Google Scholar
Taurog JD, Rival C, van Duivenvoorde LM, Satumtira N, Dorris ML, Sun M, et al. Autoimmune epididymoorchitis is essential to the pathogenesis of male-specific spondylarthritis in HLA-B27-transgenic rats. Arthritis Rheum. 2012;64:2518–28.
Article
PubMed Central
CAS
PubMed
Google Scholar
Liang L, Sha WC. The right place at the right time: novel B7 family members regulate effector T cell responses. Curr Opin Immunol. 2002;14:384–90.
Article
CAS
PubMed
Google Scholar
Greenhalgh CJ, Alexander WS. Suppressors of cytokine signalling and regulation of growth hormone action. Growth Horm IGF Res. 2004;14:200–6.
Article
CAS
PubMed
Google Scholar
Wikström AM, Dunkel L. Klinefelter syndrome. Best Pract Res Clin Endocrinol Metab. 2011;25:239–50.
Article
PubMed
Google Scholar
Hedger MP, Winnall WR. Regulation of activin and inhibin in the adult testis and the evidence for functional roles in spermatogenesis and immunoregulation. Mol Cell Endocrinol. 2012;359:30–42.
Article
CAS
PubMed
Google Scholar
Tüttelmann F, Damm OS, Luetjens CM, Baldi M, Zitzmann M, Kliesch S, et al. Intratesticular testosterone is increased in men with Klinefelter syndrome and may not be released into the bloodstream owing to altered testicular vascularization - a preliminary report. Andrology. 2014;2:275–81.
Article
PubMed
Google Scholar
Cover PO, Baanah-Jones F, John CD, Buckingham JC. Annexin 1 (lipocortin 1) mimics inhibitory effects of glucocorticoids on testosterone secretion and enhances effects of interleukin-1beta. Endocrine. 2002;18:33–9.
Article
CAS
PubMed
Google Scholar
Yao B, Rieanrakwong D, Kawaminami M. Testicular annexin A5 expression augmented by experimental cryptorchidism and could affect germ cell apoptosis in rats. Urology. 2009;73:1412–6.
Article
PubMed
Google Scholar
Azhar S, Leers-Sucheta S, Reaven E. Cholesterol uptake in adrenal and gonadal tissues: the SR-BI and ‘selective’ pathway connection. Front Biosci. 2003;8:s998–1029.
Article
PubMed
Google Scholar
Casanova MB, Lustig L, Diaz ES, Pellizzari EH, Cigorraga SB, Denduchis B. Expression of caveolin-1 in rat Leydig cells. Biocell. 2006;30:431–8.
CAS
PubMed
Google Scholar
Vogl AW, Du M, Wang XY, Young JS. Novel clathrin/actin-based endocytic machinery associated with junction turnover in the seminiferous epithelium. Semin Cell Dev Biol. 2014;30:55–64.
Article
CAS
PubMed
Google Scholar
Lie PP, Cheng CY, Mruk DD. Signalling pathways regulating the blood-testis barrier. Int J Biochem Cell Biol. 2013;45:621–5.
Article
PubMed Central
CAS
PubMed
Google Scholar
Morrow CM, Mruk D, Cheng CY, Hess RA. Claudin and occludin expression and function in the seminiferous epithelium. Philos Trans R Soc Lond B Biol Sci. 2010;365:1679–96.
Article
PubMed Central
CAS
PubMed
Google Scholar
Jamsai D, O’Connor AE, Deboer KD, Clark BJ, Smith SJ, Browne CM, et al. Loss of GGN leads to pre-implantation embryonic lethality and compromised male meiotic DNA double strand break repair in the mouse. PLoS One. 2013;8:e56955.
Article
PubMed Central
CAS
PubMed
Google Scholar
Pelletier RM. The blood-testis barrier: the junctional permeability, the proteins and the lipids. Prog Histochem Cytochem. 2011;46:49–127.
Article
PubMed
Google Scholar
Cheng CY, Mruk DD. An intracellular trafficking pathway in the seminiferous epithelium regulating spermatogenesis: a biochemical and molecular perspective. Crit Rev Biochem Mol Biol. 2009;44:245–63.
Article
PubMed Central
CAS
PubMed
Google Scholar
Kojima K, Kuramochi-Miyagawa S, Chuma S, Tanaka T, Nakatsuji N, Kimura T, et al. Associations between PIWI proteins and TDRD1/MTR-1 are critical for integrated subcellular localization in murine male germ cells. Genes Cells. 2009;14:1155–65.
Article
CAS
PubMed
Google Scholar
Sinha N, Puri P, Nairn AC, Vijayaraghavan S. Selective ablation of Ppp1cc gene in testicular germ cells causes oligo-teratozoospermia and infertility in mice. Biol Reprod. 2013;89:128.
Article
PubMed Central
PubMed
Google Scholar
Souquet B, Tourpin S, Messiaen S, Moison D, Habert R, Livera G. Nodal signaling regulates the entry into meiosis in fetal germ cells. Endocrinology. 2012;153:2466–73.
Article
CAS
PubMed
Google Scholar
Mannowetz N, Kartarius S, Wennemuth G, Montenarh M. Protein kinase CK2 and new binding partners during spermatogenesis. Cell Mol Life Sci. 2010;67:3905–13.
Article
CAS
PubMed
Google Scholar
Oatley JM, Brinster RL. The germline stem cell niche unit in mammalian testes. Physiol Rev. 2012;92:577–95.
Article
PubMed Central
CAS
PubMed
Google Scholar