{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T15:43:42Z","timestamp":1792856622152,"version":"4.5.0"},"reference-count":40,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2015,3,7]],"date-time":"2015-03-07T00:00:00Z","timestamp":1425686400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Genomics"],"published-print":{"date-parts":[[2015,12]]},"DOI":"10.1186\/s12864-015-1356-0","type":"journal-article","created":{"date-parts":[[2015,3,5]],"date-time":"2015-03-05T23:46:41Z","timestamp":1425599201000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":51,"title":["Deregulation of sertoli and leydig cells function in patients with klinefelter syndrome as evidenced by testis transcriptome analysis"],"prefix":"10.1186","volume":"16","author":[{"given":"Marco","family":"D\u2019Aurora","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Ferlin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Di Nicola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Garolla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"De Toni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Franchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giandomenico","family":"Palka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Foresta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liborio","family":"Stuppia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Gatta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2015,3,7]]},"reference":[{"key":"1356_CR1","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1002\/ajmg.c.31349","volume":"163C","author":"L Aksglaede","year":"2013","unstructured":"Aksglaede L, Link K, Giwercman A, J\u00f8rgensen 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\u201363.","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"1356_CR2","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1016\/j.fertnstert.2012.06.019","volume":"98","author":"M Maiburg","year":"2012","unstructured":"Maiburg M, Repping S, Giltay J. The genetic origin of Klinefelter syndrome and its effect on spermatogenesis. Fertil Steril. 2012;98:253\u201360.","journal-title":"Fertil Steril"},{"key":"1356_CR3","doi-asserted-by":"publisher","first-page":"734","DOI":"10.1016\/S1472-6483(10)60677-3","volume":"14","author":"A Ferlin","year":"2007","unstructured":"Ferlin A, Raicu F, Gatta V, Zuccarello D, Palka G, Foresta C. Male infertility: role of genetic background. Reprod Biomed Online. 2007;14:734\u201345.","journal-title":"Reprod Biomed Online"},{"key":"1356_CR4","first-page":"178","volume":"1","author":"V De Sanctis","year":"2010","unstructured":"De Sanctis V, Ciccone S. Fertility preservation in adolescents with Klinefelter\u2019s syndrome. Pediatr Endocrinol Rev Suppl. 2010;1:178\u201381.","journal-title":"Pediatr Endocrinol Rev Suppl"},{"key":"1356_CR5","doi-asserted-by":"publisher","first-page":"720","DOI":"10.1111\/j.1365-2605.2012.01269.x","volume":"35","author":"C Foresta","year":"2012","unstructured":"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\u20135.","journal-title":"Int J Androl"},{"key":"1356_CR6","doi-asserted-by":"publisher","first-page":"3532","DOI":"10.1210\/jc.2012-2400","volume":"98","author":"BD Anawalt","year":"2013","unstructured":"Anawalt BD. Approach to male infertility and induction of spermatogenesis. J Clin Endocrinol Metab. 2013;98:3532\u201342.","journal-title":"J Clin Endocrinol Metab"},{"key":"1356_CR7","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1093\/humupd\/dmi039","volume":"12","author":"L Aksglaede","year":"2006","unstructured":"Aksglaede L, Wikstr\u00f6m 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\u201348.","journal-title":"Hum Reprod Update"},{"key":"1356_CR8","doi-asserted-by":"publisher","first-page":"5346","DOI":"10.1073\/pnas.1116763109","volume":"109","author":"E Pessia","year":"2012","unstructured":"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\u201351.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"1356_CR9","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1186\/1471-2164-11-401","volume":"11","author":"V Gatta","year":"2010","unstructured":"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.","journal-title":"BMC Genomics"},{"key":"1356_CR10","doi-asserted-by":"publisher","first-page":"635","DOI":"10.1186\/1471-2164-14-635","volume":"14","author":"V Gatta","year":"2013","unstructured":"Gatta V, D\u2019Aurora M, Lanuti P, Pierdomenico L, Sperduti S, Palka G, et al. Gene expression modifications in Wharton\u2019s Jelly mesenchymal stem cells promoted by prolonged in vitro culturing. BMC Genomics. 2013;14:635.","journal-title":"BMC Genomics"},{"key":"1356_CR11","first-page":"149","volume":"224","author":"JD Storey","year":"2003","unstructured":"Storey JD, Tibshirani R. Statistical methods for identifying differentially expressed genes in DNA microarrays. Methods Mol Biol. 2003;224:149\u201357.","journal-title":"Methods Mol Biol"},{"key":"1356_CR12","doi-asserted-by":"publisher","first-page":"2000","DOI":"10.1016\/j.fertnstert.2013.01.150","volume":"99","author":"V Gatta","year":"2013","unstructured":"Gatta V, Tatone C, Ciriminna R, Vento M, Franchi S, D\u2019Aurora M, et al. Gene expression pro of cumulus cells obtained from women treated with recombinant human luteinizing hormone\u2009+\u2009recombinant human follicle-stimulating hormone or highly purified human menopausal gonadotropin versus recombinant human follicle-stimulating hormone alone. Fertil Steril. 2013;99:2000\u20138.","journal-title":"Fertil Steril"},{"key":"1356_CR13","doi-asserted-by":"publisher","first-page":"885","DOI":"10.1111\/j.1651-2227.2010.02112.x","volume":"100","author":"S Werler","year":"2011","unstructured":"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\u2019s syndrome. Acta Paediatr. 2011;100:885\u201391.","journal-title":"Acta Paediatr"},{"key":"1356_CR14","doi-asserted-by":"publisher","first-page":"422","DOI":"10.1038\/86927","volume":"27","author":"PJ Wang","year":"2001","unstructured":"Wang PJ, McCarrey JR, Yang F, Page DC. An abundance of X-linked genes expressed in spermatogonia. Nat Genet. 2001;27:422\u20136.","journal-title":"Nat Genet"},{"key":"1356_CR15","doi-asserted-by":"publisher","first-page":"606","DOI":"10.1210\/me.2003-0264","volume":"18","author":"DJ Bernard","year":"2004","unstructured":"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\u201323.","journal-title":"Mol Endocrinol"},{"key":"1356_CR16","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1093\/molehr\/gah016","volume":"10","author":"R Grataroli","year":"2004","unstructured":"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\u20138.","journal-title":"Mol Hum Reprod"},{"key":"1356_CR17","doi-asserted-by":"crossref","first-page":"3719","DOI":"10.1210\/endo.138.9.5387","volume":"138","author":"RS Ge","year":"1997","unstructured":"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\u201326.","journal-title":"Endocrinology"},{"key":"1356_CR18","doi-asserted-by":"publisher","first-page":"667","DOI":"10.1530\/REP-09-0020","volume":"138","author":"KC Caires","year":"2009","unstructured":"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\u201377.","journal-title":"Reproduction"},{"key":"1356_CR19","first-page":"268","volume":"129","author":"V Tassistro","year":"2009","unstructured":"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\u201378.","journal-title":"Indian J Med Res"},{"key":"1356_CR20","doi-asserted-by":"publisher","first-page":"2518","DOI":"10.1002\/art.34480","volume":"64","author":"JD Taurog","year":"2012","unstructured":"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\u201328.","journal-title":"Arthritis Rheum"},{"key":"1356_CR21","doi-asserted-by":"publisher","first-page":"384","DOI":"10.1016\/S0952-7915(02)00342-4","volume":"14","author":"L Liang","year":"2002","unstructured":"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\u201390.","journal-title":"Curr Opin Immunol"},{"key":"1356_CR22","doi-asserted-by":"publisher","first-page":"200","DOI":"10.1016\/j.ghir.2003.12.011","volume":"14","author":"CJ Greenhalgh","year":"2004","unstructured":"Greenhalgh CJ, Alexander WS. Suppressors of cytokine signalling and regulation of growth hormone action. Growth Horm IGF Res. 2004;14:200\u20136.","journal-title":"Growth Horm IGF Res"},{"key":"1356_CR23","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1016\/j.beem.2010.09.006","volume":"25","author":"AM Wikstr\u00f6m","year":"2011","unstructured":"Wikstr\u00f6m AM, Dunkel L. Klinefelter syndrome. Best Pract Res Clin Endocrinol Metab. 2011;25:239\u201350.","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"key":"1356_CR24","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1016\/j.mce.2011.09.031","volume":"359","author":"MP Hedger","year":"2012","unstructured":"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\u201342.","journal-title":"Mol Cell Endocrinol"},{"key":"1356_CR25","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1111\/j.2047-2927.2014.00190.x","volume":"2","author":"F T\u00fcttelmann","year":"2014","unstructured":"T\u00fcttelmann 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\u201381.","journal-title":"Andrology"},{"key":"1356_CR26","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1385\/ENDO:18:1:33","volume":"18","author":"PO Cover","year":"2002","unstructured":"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\u20139.","journal-title":"Endocrine"},{"key":"1356_CR27","doi-asserted-by":"publisher","first-page":"1412","DOI":"10.1016\/j.urology.2008.11.021","volume":"73","author":"B Yao","year":"2009","unstructured":"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\u20136.","journal-title":"Urology"},{"key":"1356_CR28","doi-asserted-by":"publisher","first-page":"s998","DOI":"10.2741\/1165","volume":"8","author":"S Azhar","year":"2003","unstructured":"Azhar S, Leers-Sucheta S, Reaven E. Cholesterol uptake in adrenal and gonadal tissues: the SR-BI and \u2018selective\u2019 pathway connection. Front Biosci. 2003;8:s998\u20131029.","journal-title":"Front Biosci"},{"key":"1356_CR29","doi-asserted-by":"crossref","first-page":"431","DOI":"10.32604\/biocell.2006.30.431","volume":"30","author":"MB Casanova","year":"2006","unstructured":"Casanova MB, Lustig L, Diaz ES, Pellizzari EH, Cigorraga SB, Denduchis B. Expression of caveolin-1 in rat Leydig cells. Biocell. 2006;30:431\u20138.","journal-title":"Biocell"},{"key":"1356_CR30","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1016\/j.semcdb.2013.11.002","volume":"30","author":"AW Vogl","year":"2014","unstructured":"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\u201364.","journal-title":"Semin Cell Dev Biol"},{"key":"1356_CR31","doi-asserted-by":"publisher","first-page":"621","DOI":"10.1016\/j.biocel.2012.12.009","volume":"45","author":"PP Lie","year":"2013","unstructured":"Lie PP, Cheng CY, Mruk DD. Signalling pathways regulating the blood-testis barrier. Int J Biochem Cell Biol. 2013;45:621\u20135.","journal-title":"Int J Biochem Cell Biol"},{"key":"1356_CR32","doi-asserted-by":"publisher","first-page":"1679","DOI":"10.1098\/rstb.2010.0025","volume":"365","author":"CM Morrow","year":"2010","unstructured":"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\u201396.","journal-title":"Philos Trans R Soc Lond B Biol Sci"},{"key":"1356_CR33","doi-asserted-by":"publisher","first-page":"e56955","DOI":"10.1371\/journal.pone.0056955","volume":"8","author":"D Jamsai","year":"2013","unstructured":"Jamsai D, O\u2019Connor 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.","journal-title":"PLoS One"},{"key":"1356_CR34","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1016\/j.proghi.2011.05.001","volume":"46","author":"RM Pelletier","year":"2011","unstructured":"Pelletier RM. The blood-testis barrier: the junctional permeability, the proteins and the lipids. Prog Histochem Cytochem. 2011;46:49\u2013127.","journal-title":"Prog Histochem Cytochem"},{"key":"1356_CR35","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1080\/10409230903061207","volume":"44","author":"CY Cheng","year":"2009","unstructured":"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\u201363.","journal-title":"Crit Rev Biochem Mol Biol"},{"key":"1356_CR36","doi-asserted-by":"publisher","first-page":"1155","DOI":"10.1111\/j.1365-2443.2009.01342.x","volume":"14","author":"K Kojima","year":"2009","unstructured":"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\u201365.","journal-title":"Genes Cells"},{"key":"1356_CR37","doi-asserted-by":"publisher","first-page":"128","DOI":"10.1095\/biolreprod.113.110239","volume":"89","author":"N Sinha","year":"2013","unstructured":"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.","journal-title":"Biol Reprod"},{"key":"1356_CR38","doi-asserted-by":"publisher","first-page":"2466","DOI":"10.1210\/en.2011-2056","volume":"153","author":"B Souquet","year":"2012","unstructured":"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\u201373.","journal-title":"Endocrinology"},{"key":"1356_CR39","doi-asserted-by":"publisher","first-page":"3905","DOI":"10.1007\/s00018-010-0412-9","volume":"67","author":"N Mannowetz","year":"2010","unstructured":"Mannowetz N, Kartarius S, Wennemuth G, Montenarh M. Protein kinase CK2 and new binding partners during spermatogenesis. Cell Mol Life Sci. 2010;67:3905\u201313.","journal-title":"Cell Mol Life Sci"},{"key":"1356_CR40","doi-asserted-by":"publisher","first-page":"577","DOI":"10.1152\/physrev.00025.2011","volume":"92","author":"JM Oatley","year":"2012","unstructured":"Oatley JM, Brinster RL. The germline stem cell niche unit in mammalian testes. Physiol Rev. 2012;92:577\u201395.","journal-title":"Physiol Rev"}],"container-title":["BMC Genomics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s12864-015-1356-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12864-015-1356-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12864-015-1356-0","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12864-015-1356-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,2]],"date-time":"2021-09-02T09:09:13Z","timestamp":1630573753000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcgenomics.biomedcentral.com\/articles\/10.1186\/s12864-015-1356-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,3,7]]},"references-count":40,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015,12]]}},"alternative-id":["1356"],"URL":"https:\/\/doi.org\/10.1186\/s12864-015-1356-0","relation":{},"ISSN":["1471-2164"],"issn-type":[{"value":"1471-2164","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,3,7]]},"assertion":[{"value":"4 August 2014","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 February 2015","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 March 2015","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"156"}}