{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T14:23:16Z","timestamp":1761920596653,"version":"3.37.3"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2019,7,6]],"date-time":"2019-07-06T00:00:00Z","timestamp":1562371200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2019,7,6]],"date-time":"2019-07-06T00:00:00Z","timestamp":1562371200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Biol Rep"],"published-print":{"date-parts":[[2019,8]]},"DOI":"10.1007\/s11033-019-04688-9","type":"journal-article","created":{"date-parts":[[2019,7,6]],"date-time":"2019-07-06T10:04:09Z","timestamp":1562407449000},"page":"4599-4604","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Novel frameshift mutation of the NR0B1(DAX1) in two tall adult brothers"],"prefix":"10.1007","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4700-4167","authenticated-orcid":false,"given":"Rita","family":"Bertalan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zsuzsa","family":"Bencsik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Piroska","family":"Mezei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zsolt","family":"Vajda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henriett","family":"Butz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Attila","family":"Pat\u00f3cs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2019,7,6]]},"reference":[{"key":"4688_CR1","doi-asserted-by":"publisher","first-page":"635","DOI":"10.1038\/372635a0","volume":"372","author":"E Zanaria","year":"1994","unstructured":"Zanaria E, Muscatelli F, Bardoni B et al (1994) An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Nature 372:635\u2013641","journal-title":"Nature"},{"key":"4688_CR2","doi-asserted-by":"publisher","first-page":"5042","DOI":"10.1038\/ncomms6042","volume":"5","author":"J Zhang","year":"2014","unstructured":"Zhang J, Liu G, Ruan Y, Wang J et al (2014) Dax1 and Nanog act in parallel to stabilize mouse embryonic stem cells and induced pluripotency. Nat Commun 5:5042","journal-title":"Nat Commun"},{"key":"4688_CR3","first-page":"1261","volume":"10","author":"Y Ikeda","year":"1996","unstructured":"Ikeda Y, Swain A, Weber TJ et al (1996) Steroidogenic factor 1 and Dax-1 colocalize in multiple cell lineages: potential links in endocrine development. Mol Endocrinol 10:1261\u20131272","journal-title":"Mol Endocrinol"},{"key":"4688_CR4","doi-asserted-by":"publisher","first-page":"678","DOI":"10.1210\/jc.2008-1064","volume":"94","author":"B Ferraz-de-Souza","year":"2009","unstructured":"Ferraz-de-Souza B, Martin F, Mallet D et al (2009) CBP\/p300-interacting transactivator, with Glu\/Asp-Rich C-terminal domain, 2, and Pre-B-cell leukemia transcription factor 1 in human adrenal development and disease. J Clin Endocrinol Metab 94:678\u2013683","journal-title":"J Clin Endocrinol Metab"},{"key":"4688_CR5","doi-asserted-by":"publisher","first-page":"1719","DOI":"10.1128\/MCB.01010-08","volume":"29","author":"B Xu","year":"2009","unstructured":"Xu B, Yang WH, Gerin I, Hu CD, Hammer GD, Koenig RJ (2009) Dax-1 and steroid receptor RNA activator (SRA) function as transcriptional coactivators for steroidogenic factor 1 in steroidogenesis. Mol Cell Biol 29:1719\u20131734","journal-title":"Mol Cell Biol"},{"key":"4688_CR6","doi-asserted-by":"publisher","first-page":"1476","DOI":"10.1128\/MCB.17.3.1476","volume":"17","author":"M Ito","year":"1997","unstructured":"Ito M, Yu R, Jameson JL (1997) DAX-1 inhibits SF-1-mediated transactivation via a carboxy-terminal domain that is deleted in adrenal hypoplasia congenita. Mol Cell Biol 17:1476\u20131483","journal-title":"Mol Cell Biol"},{"key":"4688_CR7","doi-asserted-by":"publisher","first-page":"311","DOI":"10.1038\/36899","volume":"390","author":"E Zazopoulos","year":"1997","unstructured":"Zazopoulos E, Lalli E, Stocco DM, Sassone-Corsi P (1997) DNA binding and transcriptional repression by DAX-1 blocks steroidogenesis. Nature 390:311\u2013315","journal-title":"Nature"},{"key":"4688_CR8","doi-asserted-by":"publisher","first-page":"1950","DOI":"10.1210\/mend.11.13.0038","volume":"11","author":"E Lalli","year":"1997","unstructured":"Lalli E, Bardoni B, Zazopoulos E, Wurtz JM, Strom TM, Moras D, Sassone-Corsi P (1997) A transcriptional silencing domain in DAX-1 whose mutation causes adrenal hypoplasia congenita. Mol Endocrinol 11:1950\u20131960","journal-title":"Mol Endocrinol"},{"key":"4688_CR9","doi-asserted-by":"publisher","first-page":"4910","DOI":"10.1128\/MCB.20.13.4910-4921.2000","volume":"20","author":"E Lalli","year":"2000","unstructured":"Lalli E, Ohe K, Hindelang C, Sassone-Corsi P (2000) Orphan receptor DAX-1 is a shuttling RNA binding protein associated with polyribosomes via mRNA. Mol Cell Biol 20:4910\u20134921","journal-title":"Mol Cell Biol"},{"key":"4688_CR10","doi-asserted-by":"publisher","first-page":"672","DOI":"10.1038\/372672a0","volume":"372","author":"F Muscatelli","year":"1994","unstructured":"Muscatelli F, Strom TM, Walker AP et al (1994) Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Nature 372:672\u2013676","journal-title":"Nature"},{"key":"4688_CR11","doi-asserted-by":"publisher","first-page":"324","DOI":"10.1001\/jama.1995.03530040052040","volume":"274","author":"W Guo","year":"1995","unstructured":"Guo W, Mason JS, Stone CG Jr et al (1995) Diagnosis of X-linked adrenal hypoplasia congenita by mutation analysis of the DAX1 gene. JAMA 274:324\u2013330","journal-title":"JAMA"},{"issue":"1\u20132","key":"4688_CR12","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1016\/j.mce.2011.04.017","volume":"346","author":"U Jadhav","year":"2011","unstructured":"Jadhav U, Harris RM, Jameson JL (2011) Hypogonadotropic hypogonadism in subjects with DAX1 mutations. Mol Cell Endocrinol 346(1\u20132):65\u201373","journal-title":"Mol Cell Endocrinol"},{"key":"4688_CR13","doi-asserted-by":"publisher","first-page":"353","DOI":"10.1038\/3822","volume":"20","author":"RN Yu","year":"1998","unstructured":"Yu RN, Ito M, Saunders TL, Camper SA, Jameson JL (1998) Role of Ahch in gonadal development and gametogenesis. Nat Genet 20:353\u2013357","journal-title":"Nat Genet"},{"key":"4688_CR14","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1016\/1043-2760(91)90001-4","volume":"2","author":"GB Kletter","year":"1991","unstructured":"Kletter GB, Gorski JL, Kelch RP (1991) Congenital adrenal hypoplasia and isolated gonadotropin deficiency. Trends Endocrinol Metab 2:123\u2013128","journal-title":"Trends Endocrinol Metab"},{"key":"4688_CR15","doi-asserted-by":"publisher","first-page":"1445","DOI":"10.1210\/me.2003-0159","volume":"17","author":"E Lalli","year":"2003","unstructured":"Lalli E, Sassone-Corsi P (2003) DAX-1, an unusual orphan receptor at the crossroads of steroidogenic function and sexual differentiation. Mol Endocrinol 17:1445\u20131453","journal-title":"Mol Endocrinol"},{"key":"4688_CR16","doi-asserted-by":"publisher","first-page":"607","DOI":"10.1016\/j.beem.2015.07.004","volume":"29","author":"JP Suntharalingham","year":"2015","unstructured":"Suntharalingham JP, Buonocore F, Duncan AJ, Achermann JC (2015) DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease. Best Pract Res Clin Endocrinol Metab 29:607\u2013619","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"key":"4688_CR17","doi-asserted-by":"publisher","first-page":"1055","DOI":"10.1172\/JCI118866","volume":"98","author":"RL Habiby","year":"1996","unstructured":"Habiby RL, Boepple P, Nachtigall L, Sluss PM, Crowley WF Jr, Jameson JL (1996) Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalmic and pituitary defects in gonadotropin production. J Clin Invest 98:1055\u20131062","journal-title":"J Clin Invest"},{"key":"4688_CR18","doi-asserted-by":"publisher","first-page":"502","DOI":"10.1002\/humu.9331","volume":"25","author":"N Krone","year":"2005","unstructured":"Krone N, Riepe FG, D\u00f6rr HG, Morlot M et al (2005) Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenita. Hum Mutat 25:502\u2013503","journal-title":"Hum Mutat"},{"key":"4688_CR19","doi-asserted-by":"publisher","first-page":"855","DOI":"10.1086\/301782","volume":"62","author":"YH Zhang","year":"1998","unstructured":"Zhang YH, Guo W, Wagner RL, Huang BL et al (1998) DAX1 mutations map to putative structural domains in a deduced three-dimensional model. Am J Hum Genet 62:855\u2013864","journal-title":"Am J Hum Genet"},{"key":"4688_CR20","first-page":"277","volume":"6","author":"LE Calliari","year":"2007","unstructured":"Calliari LE, Longui CA, Rocha MN, Faria CD et al (2007) A novel mutation in DAX1 gene causing different phenotypes in three siblings with adrenal hypoplasia congenita. Genet Mol Res 6:277\u2013283","journal-title":"Genet Mol Res"},{"key":"4688_CR21","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1016\/S0303-7207(01)00619-0","volume":"185","author":"JC Achermann","year":"2001","unstructured":"Achermann JC, Meeks JJ, Jameson JL (2001) Phenotypic spectrum of mutations in DAX-1 and SF-1. Mol Cell Endocrinol 185:17\u201325","journal-title":"Mol Cell Endocrinol"},{"key":"4688_CR22","doi-asserted-by":"publisher","first-page":"360","DOI":"10.1002\/dvdy.23924","volume":"242","author":"F Piferrer","year":"2013","unstructured":"Piferrer F (2013) Epigenetics of sex determination and gonadogenesis. Dev Dyn 242:360\u2013370","journal-title":"Dev Dyn"},{"key":"4688_CR23","doi-asserted-by":"publisher","first-page":"364","DOI":"10.1210\/jc.2015-1710","volume":"101","author":"SR Bornstein","year":"2016","unstructured":"Bornstein SR, Allolio B, Arlt W et al (2016) Diagnosis and treatment of primary adrenal insufficiency: an endocrine society clinical practice guideline. J Clin Endocrinol Metab 101:364\u2013389","journal-title":"J Clin Endocrinol Metab"},{"key":"4688_CR24","doi-asserted-by":"publisher","first-page":"562","DOI":"10.1590\/S0004-27302013000700011","volume":"57","author":"LE Calliari","year":"2013","unstructured":"Calliari LE, Rocha MN, Monte O, Longui CA (2013) Mild adrenal insufficiency due to a NROB1 (DAX1) gene mutation in a boy presenting an association of hypogonadotropic hypogonadism, reduced final height and attention deficit disorder. Arq Bras Endocrinol Metabol 57:562\u2013655","journal-title":"Arq Bras Endocrinol Metabol"},{"key":"4688_CR25","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1007\/s13353-013-0135-3","volume":"54","author":"A Rojek","year":"2013","unstructured":"Rojek A, Obara-Moszynska M, Malecka E, Slomko-Jozwiak M, Niedziela M (2013) NR0B1 (DAX1) mutations in patients affected by congenital adrenal hypoplasia with growth hormone deficiency as a new finding. J Appl Genet 54:225\u2013230","journal-title":"J Appl Genet"}],"container-title":["Molecular Biology Reports"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11033-019-04688-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s11033-019-04688-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11033-019-04688-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,7,4]],"date-time":"2020-07-04T23:09:16Z","timestamp":1593904156000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s11033-019-04688-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7,6]]},"references-count":25,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2019,8]]}},"alternative-id":["4688"],"URL":"https:\/\/doi.org\/10.1007\/s11033-019-04688-9","relation":{},"ISSN":["0301-4851","1573-4978"],"issn-type":[{"type":"print","value":"0301-4851"},{"type":"electronic","value":"1573-4978"}],"subject":[],"published":{"date-parts":[[2019,7,6]]},"assertion":[{"value":"2 October 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 February 2019","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 July 2019","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}