{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,10]],"date-time":"2024-07-10T05:52:19Z","timestamp":1720590739056},"reference-count":33,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2012,7,23]],"date-time":"2012-07-23T00:00:00Z","timestamp":1343001600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2012,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>BACKGROUND: The <jats:italic>AEBP1<\/jats:italic> (adipocyte enhancer binding protein) gene has two isoforms: <jats:italic>AEBP1<\/jats:italic>, the shorter of the two isoforms, and <jats:italic>Aclp<\/jats:italic> (aortic carboxypeptidase\u2010like protein). <jats:italic>Aclp<\/jats:italic><jats:sup>\u2212\/\u2212<\/jats:sup> mice demonstrate a ventral wall defect that is similar to gastroschisis in humans. <jats:italic>Aclp<\/jats:italic> is a potential candidate gene because it is expressed in numerous tissues during early development in mice; it associates with the extracellular matrix; and is essential for abdominal wall development and wound healing. In contrast, <jats:italic>AEBP1<\/jats:italic> encodes an intracellular protein involved in proinflammatory responses, and may play a critical role in apoptosis and cell survival. Gastroschisis is a severe abdominal wall defect more common in young women and recently associated with a genitourinary infection early in pregnancy. METHODS: We screened <jats:italic>AEBP1<\/jats:italic> in 40 cases of gastroschisis and compared identified variants in a control population. RESULTS: We identified several novel variants in <jats:italic>AEBP1<\/jats:italic>, including synonymous and nonsynonymous single nucleotide substitutions and intronic indels. However, the frequency of these variants was not significantly different from that of the control group, and the associated amino acid changes were predicted to be benign by two prediction software programs. CONCLUSIONS: Gastroschisis remains an intriguing defect that, for an unknown reason, occurs more commonly in young women and after a genitourinary infection. Although we found many alterations in <jats:italic>AEBP1<\/jats:italic> among the gastroschisis cases, they were predicted to be benign. However, this gene requires further understanding of its interaction with other genes involved in the immune response pathway. Birth Defects Research (Part A) 94:738\u2013742, 2012. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/bdra.23041","type":"journal-article","created":{"date-parts":[[2012,7,23]],"date-time":"2012-07-23T06:07:33Z","timestamp":1343023653000},"page":"738-742","source":"Crossref","is-referenced-by-count":10,"title":["<i>AEBP1<\/i> gene variants in infants with gastroschisis"],"prefix":"10.1002","volume":"94","author":[{"given":"Marcia L.","family":"Feldkamp","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neil E.","family":"Bowles","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lorenzo D.","family":"Botto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,7,23]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjcard.2008.04.044"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1152\/japplphysiol.00562.2003"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/bies.20137"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30181"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1080\/15287394.2011.534424"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1203\/PDR.0b013e3181e17c75"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/aje\/kwm335"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.22844"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31578"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.39567.509074.25"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-9926(199909)60:3<117::AID-TERA5>3.0.CO;2-G"},{"key":"e_1_2_6_13_1","first-page":"553","article-title":"Aortic carboxypeptidase\u2010like protein in expressed in collagen\u2010rich tissues during mouse embryonic development","volume":"5","author":"Ith B","year":"2005","journal-title":"Gene Expre Patterns"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/aje\/kwh051"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2010.05.003"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jp.7210896"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.21.15.5256-5261.2001"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2004.032136"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biocel.2009.01.003"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1621\/nrs.08004"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1155\/2010\/823821"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0508139103"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E06-03-0217"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ab.2005.08.010"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-0528.1998.tb10095.x"},{"key":"e_1_2_6_26_1","doi-asserted-by":"crossref","first-page":"3999","DOI":"10.1242\/dev.124.20.3999","article-title":"Polydactyly and extopic ZPA formation in Alx\u20104 mutant mice","volume":"124","author":"Qu S","year":"1997","journal-title":"Development"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2003.029751"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(01)00771-5"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(00)80016-0"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450414"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30179"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1373\/49.6.853"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2004.07.016"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1093\/phr\/116.S1.32"}],"container-title":["Birth Defects Research Part A: Clinical and Molecular Teratology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fbdra.23041","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/bdra.23041","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T15:28:33Z","timestamp":1698766113000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/bdra.23041"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,7,23]]},"references-count":33,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2012,9]]}},"alternative-id":["10.1002\/bdra.23041"],"URL":"https:\/\/doi.org\/10.1002\/bdra.23041","archive":["Portico"],"relation":{},"ISSN":["1542-0752","1542-0760"],"issn-type":[{"value":"1542-0752","type":"print"},{"value":"1542-0760","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,7,23]]}}}