{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T09:05:38Z","timestamp":1790931938171,"version":"4.1.0"},"reference-count":10,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2002,4,29]],"date-time":"2002-04-29T00:00:00Z","timestamp":1020038400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Neural tube defects (NTDs) are among the most common severely disabling birth defects in the United States, affecting approximately 1\u20132 of every 1,000 live births. The etiology of NTDs is multifactorial, involving the combined action of both genetic and environmental factors. <jats:italic>HOX<\/jats:italic> genes play a central role in establishing the initial body plan by providing positional information along the anterior\u2013posterior body and limb axis and have been implicated in neural tube closure. There are many mouse models that exhibit both naturally occurring NTDs in various mouse strains as well as NTDs that have been created by \u201cknocking out\u201d various genes. A nonparametric linkage method, the transmission disequilibrium test (TDT), was utilized to test the <jats:italic>HOX<\/jats:italic> gene family and human equivalents of genes (when known) or the syntenic region in humans to those in mouse models which could play a role in the formation of NTDs. DNA from 459 spina bifida (SB) affected individuals and their parents was tested for linkage and association utilizing polymorphic markers from within or very close to the <jats:italic>HOXA, HOXB, HOXC<\/jats:italic>, and <jats:italic>HOXD<\/jats:italic> genes as well as from within the genes\/gene regions of eight mouse models that exhibit NTDs. No significant findings were obtained for the tested markers. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10435","type":"journal-article","created":{"date-parts":[[2002,10,6]],"date-time":"2002-10-06T12:29:56Z","timestamp":1033907396000},"page":"203-207","source":"Crossref","is-referenced-by-count":24,"title":["Testing for genetic associations in a spina bifida population: Analysis of the <i>HOX<\/i> gene family and human candidate gene regions implicated by mouse models of neural tube defects"],"prefix":"10.1002","volume":"110","author":[{"given":"K.A.","family":"Volcik","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.H.","family":"Blanton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.C.","family":"Kruzel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.T.","family":"Townsend","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.H.","family":"Tyerman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.J.","family":"Mier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Northrup","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,5,30]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0177(199805)212:1<141::AID-AJA13>3.0.CO;2-A"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/jez.1401270206"},{"key":"e_1_2_6_4_1","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1242\/dev.108.3.411","article-title":"Differential expression of Hox 3.1 protein in subregions of the embryonic and adult spinal cord","volume":"108","author":"Awgulewitsch A","year":"1990","journal-title":"Development"},{"key":"e_1_2_6_5_1","first-page":"39","article-title":"Vacuolated lens","volume":"36","author":"Dickie MM","year":"1967","journal-title":"Mouse News Lett"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.2.7.773"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/84867"},{"key":"e_1_2_6_8_1","first-page":"659","article-title":"Biology of disease: homeobox genes and congenital malformations","volume":"66","author":"Redline RW","year":"1992","journal-title":"Lab Invest"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1995.tb00751.x"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470528"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1993.1333"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.10435","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.10435","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T21:41:07Z","timestamp":1697492467000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10435"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,5,30]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2002,7]]}},"alternative-id":["10.1002\/ajmg.10435"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.10435","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,5,30]]}}}