{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T11:25:47Z","timestamp":1790940347662,"version":"4.1.0"},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2006,5,6]],"date-time":"2006-05-06T00:00:00Z","timestamp":1146873600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[2006,8]]},"DOI":"10.1007\/s00439-006-0181-6","type":"journal-article","created":{"date-parts":[[2006,5,5]],"date-time":"2006-05-05T08:55:50Z","timestamp":1146819350000},"page":"52-57","source":"Crossref","is-referenced-by-count":34,"title":["Loss of function polymorphisms in NAT1 protect against spina bifida"],"prefix":"10.1007","volume":"120","author":[{"given":"Liselotte E.","family":"Jensen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Hoess","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura E.","family":"Mitchell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander S.","family":"Whitehead","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2006,5,6]]},"reference":[{"key":"181_CR1","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1097\/00001648-200201000-00021","volume":"13","author":"RJ Berry","year":"2002","unstructured":"Berry RJ, Li Z (2002) Folic acid alone prevents neural tube defects: evidence from the China study. Epidemiology 13:114\u2013116","journal-title":"Epidemiology"},{"key":"181_CR2","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1042\/BJ20040903","volume":"387","author":"NJ Butcher","year":"2005","unstructured":"Butcher NJ, Arulpragasam A, Goh HL, Davey T, Minchin RF (2005) Genomic organization of human arylamine N-acetyltransferase Type I reveals alternative promoters that generate different 5\u2032-UTR splice variants and altered translational activities. Biochem J 387:119\u2013127","journal-title":"Biochem J"},{"key":"181_CR3","doi-asserted-by":"crossref","first-page":"1832","DOI":"10.1056\/NEJM199212243272602","volume":"327","author":"AE Czeizel","year":"1992","unstructured":"Czeizel AE, Dudas I (1992) Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation. N Engl J Med 327:1832\u20131835","journal-title":"N Engl J Med"},{"key":"181_CR4","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1016\/S0076-6879(05)00012-1","volume":"400","author":"JM Dupret","year":"2005","unstructured":"Dupret JM, Dairou J, Atmane N, Rodrigues-Lima F (2005) Inactivation of human arylamine N-acetyltransferase 1 by hydrogen peroxide and peroxynitrate. Methods Enzymol 400:215\u2013229","journal-title":"Methods Enzymol"},{"key":"181_CR5","first-page":"29","volume":"9","author":"DW Hein","year":"2000","unstructured":"Hein DW, Doll MA, Fretland AJ, Leff MA, Webb SJ, Xiao GH, Devanaboyina US, Nangju NA, Feng Y (2000) Molecular genetics and epidemiology of the NAT1 and NAT2 acetylation polymorphisms. Cancer Epidemiol Biomarkers Prev 9:29\u201342","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"key":"181_CR6","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/S0027-5107(02)00153-7","volume":"506\u2013507","author":"DW Hein","year":"2002","unstructured":"Hein DW (2002) Molecular genetics and function of NAT1 and NAT2: role in aromatic amine metabolism and carcinogenesis. Mutat Res 506\u2013507:65\u201377","journal-title":"Mutat Res"},{"key":"181_CR7","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1002\/bdra.20143","volume":"73","author":"LE Jensen","year":"2005","unstructured":"Jensen LE, Hoess K, Whitehead AS, Mitchell LE (2005) The NAT1 C1095A polymorphism, maternal multivitamin use and smoking, and the risk of spina bifida. Birth Defects Research (Part A) 73:512\u2013516","journal-title":"Birth Defects Research (Part A)"},{"key":"181_CR8","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1042\/bj3070001","volume":"307","author":"RF Minchin","year":"1995","unstructured":"Minchin RF (1995) Acetylation of p-aminobenzoylglutamate, a folic acid catabolite, by recombinant human arylamine N-acetyltransferase and U937 cells. Biochem J 307:1\u20133","journal-title":"Biochem J"},{"key":"181_CR9","doi-asserted-by":"crossref","first-page":"1885","DOI":"10.1016\/S0140-6736(04)17445-X","volume":"364","author":"LE Mitchell","year":"2004","unstructured":"Mitchell LE, Adzick NS, Melchionne J, Pasquariello PS, Sutton LN, Whitehead AS (2004) Spina bifida. Lancet 364:1885\u20131895","journal-title":"Lancet"},{"key":"181_CR10","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1016\/S0090-9556(24)15287-7","volume":"27","author":"MK Mitchell","year":"1999","unstructured":"Mitchell MK, Futscher BW, McQueen CA (1999) Developmental expression of N-acetyltransferases in C57BL\/6 mice. Drug Metab Dispos 27:261\u2013264","journal-title":"Drug Metab Dispos"},{"key":"181_CR11","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/0140-6736(91)90133-A","volume":"338","author":"MRC","year":"1991","unstructured":"MRC (1991) Prevention of neural tube defects. Lancet 338:131\u2013137","journal-title":"Lancet"},{"key":"181_CR12","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1016\/S0006-2952(99)00171-9","volume":"58","author":"M Payton","year":"1999","unstructured":"Payton M, Smelt V, Upton A, Sim E (1999) A method for genotyping murine arylamine N-acetyltransferase type 2 (NAT2): a gene expressed in preimplantation embryonic offspring stem cells encoding an enzyme acetylating the folate catabolite p-aminobenzoylglutamate. Biochem Pharmacol 58:779\u2013785","journal-title":"Biochem Pharmacol"},{"key":"181_CR13","doi-asserted-by":"crossref","first-page":"1101","DOI":"10.1093\/hmg\/9.7.1101","volume":"9","author":"VA Smelt","year":"2000","unstructured":"Smelt VA, Upton A, Adjaye J, Payton MA, Boukouvala S, Johnson N, Mardon HJ, Sim E (2000) Expression of arylamine N-acetyltransferases in pre-term placentas and in human pre-implantation embryos. Hum Mol Genet 9:1101\u20131107","journal-title":"Hum Mol Genet"},{"key":"181_CR14","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1002\/(SICI)1096-9926(199811)58:5<174::AID-TERA3>3.0.CO;2-Q","volume":"58","author":"LA Stanley","year":"1998","unstructured":"Stanley LA, Copp AJ, Pope J, Rolls S, Smelt VH, Sim E (1998) Immunochemical detection of arylamine N-acetyltransferase during mouse embryonic offspring development and in adult mouse brain. Teratology 58:174\u2013182","journal-title":"Teratology"},{"key":"181_CR15","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1124\/mol.64.1.170","volume":"64","author":"KS Sugamori","year":"2003","unstructured":"Sugamori KS, Wong S, Gaedigk A, Yu V, Abramovici H, Rozmahel R, Grant DM (2003) Generation and functional characterization of arylamine N-acetyltransferase Nat1\/Nat2 double-knockout mice. Mol Pharmacol 64:170\u2013179","journal-title":"Mol Pharmacol"},{"key":"181_CR16","doi-asserted-by":"crossref","first-page":"1759","DOI":"10.1016\/0006-2952(95)00087-G","volume":"49","author":"A Ward","year":"1995","unstructured":"Ward A, Summers MJ, Sim E (1995) Purification of recombinant human N-acetyltransferase type 1 (NAT1) expressed in E. coli and characterization of its potential role in folate metabolism. Biochem Pharmacol 49:1759\u20131767","journal-title":"Biochem Pharmacol"},{"key":"181_CR17","doi-asserted-by":"crossref","first-page":"969","DOI":"10.1086\/301802","volume":"62","author":"CR Weinberg","year":"1998","unstructured":"Weinberg CR, Wilcox AJ, Lie RT (1998) A log-linear approach to case-parent-triad data: assesing the effects of disease genes that act either directly or through maternal effects and that may be subject to parental imprinting. Am J Hum Genet 62:969\u2013978","journal-title":"Am J Hum Genet"},{"key":"181_CR18","doi-asserted-by":"crossref","first-page":"893","DOI":"10.1093\/oxfordjournals.aje.a009715","volume":"148","author":"AJ Wilcox","year":"1998","unstructured":"Wilcox AJ, Weinberg CR, Lie RT (1998) Distinquishing the effects of maternal and offspring genes through studies of \u201ccase-parent triads\u201d. Am J Epidemiol 148:893\u2013901","journal-title":"Am J Epidemiol"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-006-0181-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00439-006-0181-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-006-0181-6","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,8]],"date-time":"2025-01-08T20:41:23Z","timestamp":1736368883000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00439-006-0181-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,5,6]]},"references-count":18,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2006,8]]}},"alternative-id":["181"],"URL":"https:\/\/doi.org\/10.1007\/s00439-006-0181-6","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,5,6]]}}}