{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T13:32:05Z","timestamp":1790861525421,"version":"4.1.0"},"reference-count":21,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2015,7,8]],"date-time":"2015-07-08T00:00:00Z","timestamp":1436313600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2016,4]]},"DOI":"10.1038\/ejhg.2015.151","type":"journal-article","created":{"date-parts":[[2015,7,8]],"date-time":"2015-07-08T10:22:02Z","timestamp":1436350922000},"page":"556-561","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":45,"title":["Loss-of-function variants in HIVEP2 are a cause of intellectual disability"],"prefix":"10.1038","volume":"24","author":[{"given":"Siddharth","family":"Srivastava","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hartmut","family":"Engels","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ina","family":"Schanze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kirsten","family":"Cremer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Wieland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moritz","family":"Menzel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9726-6662","authenticated-orcid":false,"given":"Max","family":"Schubach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saskia","family":"Biskup","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Krei\u00df","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Endele","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim M","family":"Strom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dagmar","family":"Wieczorek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Zenker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siddharth","family":"Gupta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Cohen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander M","family":"Zink","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"SakkuBai","family":"Naidu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2015,7,8]]},"reference":[{"key":"BFejhg2015151_CR1","doi-asserted-by":"publisher","first-page":"137","DOI":"10.3727\/000000002783992479","volume":"10","author":"L-C Wu","year":"2002","unstructured":"Wu L-C : ZAS: C2H2 zinc finger proteins involved in growth and development. Gene Expr 2002; 10: 137\u2013152.","journal-title":"Gene Expr"},{"key":"BFejhg2015151_CR2","doi-asserted-by":"publisher","first-page":"3736","DOI":"10.1128\/MCB.19.5.3736","volume":"19","author":"U D\u00f6rflinger","year":"1999","unstructured":"D\u00f6rflinger U, Pscherer A, Moser M, R\u00fcmmele P, Sch\u00fcle R, Buettner R : Activation of somatostatin receptor II expression by transcription factors MIBP1 and SEF-2 in the murine brain. Mol Cell Biol 1999; 19: 3736\u20133747.","journal-title":"Mol Cell Biol"},{"key":"BFejhg2015151_CR3","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1093\/oxfordjournals.jbchem.a003109","volume":"131","author":"S Fukuda","year":"2002","unstructured":"Fukuda S, Yamasaki Y, Iwaki T et al: Characterization of the biological functions of a transcription factor, c-myc intron binding protein 1 (MIBP1). J Biochem 2002; 131: 349\u2013357.","journal-title":"J Biochem"},{"key":"BFejhg2015151_CR4","doi-asserted-by":"publisher","first-page":"9887","DOI":"10.1074\/jbc.M111.298521","volume":"287","author":"Y Iwashita","year":"2012","unstructured":"Iwashita Y, Fukuchi N, Waki M, Hayashi K, Tahira T : Genome-wide repression of NF-\u03baB target genes by transcription factor MIBP1 and Its modulation by O-Linked \u03b2-N-acetylglucosamine (O-GlcNAc) transferase. J Biol Chem 2012; 287: 9887\u20139900.","journal-title":"J Biol Chem"},{"key":"BFejhg2015151_CR5","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/978-1-4419-6451-9_1","volume":"684","author":"T Nakayama","year":"2010","unstructured":"Nakayama T, Kimura MY : Memory Th1\/Th2 cell generation controlled by Schnurri-2. Adv Exp Med Biol 2010; 684: 1\u201310.","journal-title":"Adv Exp Med Biol"},{"key":"BFejhg2015151_CR6","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1038\/nature09848","volume":"472","author":"TL Staton","year":"2011","unstructured":"Staton TL, Lazarevic V, Jones DC et al: Dampening of death pathways by schnurri-2 is essential for T-cell development. Nature 2011; 472: 105\u2013109.","journal-title":"Nature"},{"key":"BFejhg2015151_CR7","doi-asserted-by":"publisher","first-page":"479","DOI":"10.3109\/10428194.2011.625099","volume":"53","author":"J Yamashita","year":"2012","unstructured":"Yamashita J, Iwamura C, Mitsumori K et al: Murine Schnurri-2 controls natural killer cell function and lymphoma development. Leuk Lymphoma 2012; 53: 479\u2013486.","journal-title":"Leuk Lymphoma"},{"key":"BFejhg2015151_CR8","doi-asserted-by":"publisher","first-page":"12907","DOI":"10.1074\/jbc.M611203200","volume":"282","author":"Y Saita","year":"2007","unstructured":"Saita Y, Takagi T, Kitahara K et al: Lack of Schnurri-2 expression associates with reduced bone remodeling and osteopenia. J Biol Chem 2007; 282: 12907\u201312915.","journal-title":"J Biol Chem"},{"key":"BFejhg2015151_CR9","doi-asserted-by":"publisher","first-page":"461","DOI":"10.1016\/j.devcel.2006.02.016","volume":"10","author":"W Jin","year":"2006","unstructured":"Jin W, Takagi T, Kanesashi S et al: Schnurri-2 controls BMP-dependent adipogenesis via interaction with Smad proteins. Dev Cell 2006; 10: 461\u2013471.","journal-title":"Dev Cell"},{"key":"BFejhg2015151_CR10","doi-asserted-by":"publisher","first-page":"1674","DOI":"10.1016\/S0140-6736(12)61480-9","volume":"380","author":"A Rauch","year":"2012","unstructured":"Rauch A, Wieczorek D, Graf E et al: Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet 2012; 380: 1674\u20131682.","journal-title":"Lancet"},{"key":"BFejhg2015151_CR11","doi-asserted-by":"publisher","first-page":"e1003709","DOI":"10.1371\/journal.pgen.1003709","volume":"9","author":"S Petrovski","year":"2013","unstructured":"Petrovski S, Wang Q, Heinzen EL, Allen AS, Goldstein DB : Genic intolerance to functional variation and the interpretation of personal genomes. PLoS Genet 2013; 9: e1003709.","journal-title":"PLoS Genet"},{"key":"BFejhg2015151_CR12","doi-asserted-by":"publisher","first-page":"781","DOI":"10.1016\/0092-8674(95)90539-1","volume":"81","author":"K Arora","year":"1995","unstructured":"Arora K, Dai H, Kazuko SG et al: The Drosophila schnurri gene acts in the Dpp\/TGF beta signaling pathway and encodes a transcription factor homologous to the human MBP family. Cell 1995; 81: 781\u2013790.","journal-title":"Cell"},{"key":"BFejhg2015151_CR13","first-page":"3393","volume":"121","author":"K Staehling-Hampton","year":"1995","unstructured":"Staehling-Hampton K, Laughon AS, Hoffmann FM : A Drosophila protein related to the human zinc finger transcription factor PRDII\/MBPI\/HIV-EP1 is required for dpp signaling. Dev Camb Engl 1995; 121: 3393\u20133403.","journal-title":"Dev Camb Engl"},{"key":"BFejhg2015151_CR14","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1101\/gad.8.2.133","volume":"8","author":"DM Kingsley","year":"1994","unstructured":"Kingsley DM : The TGF-beta superfamily: new members, new receptors, and new genetic tests of function in different organisms. Genes Dev 1994; 8: 133\u2013146.","journal-title":"Genes Dev"},{"key":"BFejhg2015151_CR15","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1006\/frne.1999.0183","volume":"20","author":"YC Patel","year":"1999","unstructured":"Patel YC : Somatostatin and its receptor family. Front Neuroendocrinol 1999; 20: 157\u2013198.","journal-title":"Front Neuroendocrinol"},{"key":"BFejhg2015151_CR16","doi-asserted-by":"publisher","first-page":"764","DOI":"10.1038\/nrc904","volume":"2","author":"S Pelengaris","year":"2002","unstructured":"Pelengaris S, Khan M, Evan G : c-MYC: more than just a matter of life and death. Nat Rev Cancer 2002; 2: 764\u2013776.","journal-title":"Nat Rev Cancer"},{"key":"BFejhg2015151_CR17","doi-asserted-by":"crossref","first-page":"120","DOI":"10.18632\/oncotarget.116","volume":"1","author":"A Wey","year":"2010","unstructured":"Wey A, Knoepfler PS : c-myc and N-myc promote active stem cell metabolism and cycling as architects of the developing brain. Oncotarget 2010; 1: 120\u2013130.","journal-title":"Oncotarget"},{"key":"BFejhg2015151_CR18","doi-asserted-by":"publisher","first-page":"a001271","DOI":"10.1101\/cshperspect.a001271","volume":"1","author":"B Kaltschmidt","year":"2009","unstructured":"Kaltschmidt B, Kaltschmidt C : NF-kappaB in the nervous system. Cold Spring Harb Perspect Biol 2009; 1: a001271.","journal-title":"Cold Spring Harb Perspect Biol"},{"key":"BFejhg2015151_CR19","doi-asserted-by":"publisher","first-page":"252","DOI":"10.1016\/S0166-2236(96)01035-1","volume":"20","author":"LA O\u2019Neill","year":"1997","unstructured":"O\u2019Neill LA, Kaltschmidt C : NF-kappa B a crucial transcription factor for glial and neuronal cell function. Trends Neurosci 1997; 20: 252\u2013258.","journal-title":"Trends Neurosci"},{"key":"BFejhg2015151_CR20","doi-asserted-by":"publisher","first-page":"1409","DOI":"10.1038\/npp.2013.38","volume":"38","author":"K Takao","year":"2013","unstructured":"Takao K, Kobayashi K, Hagihara H et al: Deficiency of schnurri-2, an MHC enhancer binding protein, induces mild chronic inflammation in the brain and confers molecular, neuronal, and behavioral phenotypes related to schizophrenia. Neuropsychopharmacolgy 2013; 38: 1409\u20131425.","journal-title":"Neuropsychopharmacolgy"},{"key":"BFejhg2015151_CR21","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1016\/j.brainres.2006.06.018","volume":"1108","author":"T Takagi","year":"2006","unstructured":"Takagi T, Jin W, Taya K, Watanabe G, Mori K, Ishii S : Schnurri-2 mutant mice are hypersensitive to stress and hyperactive. Brain Res 2006; 1108: 88\u201397.","journal-title":"Brain Res"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg2015151.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2015151","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2015151.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:14:09Z","timestamp":1684430049000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg2015151"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,7,8]]},"references-count":21,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2016,4]]}},"alternative-id":["BFejhg2015151"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2015.151","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,7,8]]},"assertion":[{"value":"17 March 2015","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 May 2015","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 May 2015","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 July 2015","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}