{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T20:58:36Z","timestamp":1790974716261,"version":"4.1.0"},"reference-count":45,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2012,9,1]],"date-time":"2012-09-01T00:00:00Z","timestamp":1346457600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Gene"],"published-print":{"date-parts":[[2012,9]]},"DOI":"10.1016\/j.gene.2012.05.035","type":"journal-article","created":{"date-parts":[[2012,5,27]],"date-time":"2012-05-27T10:49:51Z","timestamp":1338115791000},"page":"340-344","source":"Crossref","is-referenced-by-count":5,"title":["Maternal PCMT1 gene polymorphisms and the risk of neural tube defects in a Chinese population of Lvliang high-risk area"],"prefix":"10.1016","volume":"505","author":[{"given":"Huizhi","family":"Zhao","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianhua","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hua","family":"Xie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin","family":"Guo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chi","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaolin","family":"Lu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yihua","family":"Bao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guoliang","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rugang","family":"Zhong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bo","family":"Niu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ting","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.gene.2012.05.035_bb0005","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1006\/mgme.2000.2991","article-title":"Investigation of folate pathway gene polymorphisms and the incidence of neural tube defects in a Texas Hispanic population","volume":"70","author":"Barber","year":"2000","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.gene.2012.05.035_bb0010","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1093\/bioinformatics\/bth457","article-title":"Haploview: analysis and visualization of LD and haplotype maps","volume":"21","author":"Barrett","year":"2005","journal-title":"Bioinformatics"},{"key":"10.1016\/j.gene.2012.05.035_bb0015","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1093\/oxfordjournals.aje.a010290","article-title":"5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review","volume":"151","author":"Botto","year":"2000","journal-title":"Am. J. Epidemiol."},{"key":"10.1016\/j.gene.2012.05.035_bb0020","doi-asserted-by":"crossref","first-page":"1547","DOI":"10.1289\/ehp.9166","article-title":"Neural tube defects and folate pathway genes: family-based association tests of gene\u2013gene and gene\u2013environment interactions","volume":"114","author":"Boyles","year":"2006","journal-title":"Environ. Health Perspect."},{"key":"10.1016\/j.gene.2012.05.035_bb0025","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1006\/jmbi.1996.0179","article-title":"Deamidation in proteins: the crystal structure of bovine pancreatic ribonuclease with an isoaspartyl residue at position 67","volume":"257","author":"Capasso","year":"1996","journal-title":"J. Mol. Biol."},{"key":"10.1016\/j.gene.2012.05.035_bb0030","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/S1568-1637(03)00011-4","article-title":"Aging as war between chemical and biochemical processes: protein methylation and the recognition of age-damaged proteins for repair","volume":"2","author":"Clarke","year":"2003","journal-title":"Ageing Res. Rev."},{"key":"10.1016\/j.gene.2012.05.035_bb0035","doi-asserted-by":"crossref","first-page":"1832","DOI":"10.1056\/NEJM199212243272602","article-title":"Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation","volume":"327","author":"Czeizel","year":"1992","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.gene.2012.05.035_bb0040","first-page":"402","article-title":"Dynamic monitoring of neural tube defects in China during 1996 to 2000","volume":"36","author":"Dai","year":"2002","journal-title":"Zhonghua Yu Fang Yi Xue Za Zhi"},{"key":"10.1016\/j.gene.2012.05.035_bb0045","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1007\/s100380200043","article-title":"Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population","volume":"47","author":"De Marco","year":"2002","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.gene.2012.05.035_bb0050","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1007\/s10038-005-0329-6","article-title":"Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk","volume":"51","author":"De Marco","year":"2006","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.gene.2012.05.035_bb0055","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/S0092-8674(02)00972-8","article-title":"Bcl-xL deamidation is a critical switch in the regulation of the response to DNA damage","volume":"111","author":"Deverman","year":"2002","journal-title":"Cell"},{"key":"10.1016\/j.gene.2012.05.035_bb0060","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1007\/s100380050161","article-title":"Polymorphic forms of the protein l-isoaspartate (d-aspartate) O-methyltransferase involved in the repair of age-damaged proteins","volume":"44","author":"DeVry","year":"1999","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.gene.2012.05.035_bb0065","doi-asserted-by":"crossref","first-page":"27856","DOI":"10.1074\/jbc.M203911200","article-title":"Altered levels of S-adenosylmethionine and S-adenosylhomocysteine in the brains of l-isoaspartyl (d-aspartyl) O-methyltransferase-deficient mice","volume":"277","author":"Farrar","year":"2002","journal-title":"J. Biol. Chem."},{"issue":"Suppl. 3","key":"10.1016\/j.gene.2012.05.035_bb0070","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1046\/j.1528-1157.44.s3.5.x","article-title":"Pathobiology and genetics of neural tube defects","volume":"44","author":"Finnell","year":"2003","journal-title":"Epilepsia"},{"key":"10.1016\/j.gene.2012.05.035_bb0075","doi-asserted-by":"crossref","first-page":"R113","DOI":"10.1093\/hmg\/ddp347","article-title":"Genetics of human neural tube defects","volume":"18","author":"Greene","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2012.05.035_bb0080","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1002\/bdra.20397","article-title":"High prevalence of NTDs in Shanxi Province: a combined epidemiological approach","volume":"79","author":"Gu","year":"2007","journal-title":"Birth Defects Res. A Clin. Mol. Teratol."},{"key":"10.1016\/j.gene.2012.05.035_bb0085","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/S0304-3940(03)00468-3","article-title":"Transcobalamin and methionine synthase reductase mutated polymorphisms aggravate the risk of neural tube defects in humans","volume":"344","author":"Gueant-Rodriguez","year":"2003","journal-title":"Neurosci. Lett."},{"key":"10.1016\/j.gene.2012.05.035_bb0090","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1016\/S0378-1119(99)00443-6","article-title":"Protein isoaspartyl methyltransferase protects from Bax-induced apoptosis","volume":"240","author":"Huebscher","year":"1999","journal-title":"Gene"},{"key":"10.1016\/j.gene.2012.05.035_bb0095","doi-asserted-by":"crossref","first-page":"4397","DOI":"10.1046\/j.1432-1327.2000.01485.x","article-title":"Increased methyl esterification of altered aspartyl residues in erythrocyte membrane proteins in response to oxidative stress","volume":"267","author":"Ingrosso","year":"2000","journal-title":"Eur. J. Biochem."},{"key":"10.1016\/j.gene.2012.05.035_bb0100","doi-asserted-by":"crossref","first-page":"12283","DOI":"10.1016\/S0021-9258(18)45348-3","article-title":"Partial repair of deamidation-damaged calmodulin by protein carboxyl methyltransferase","volume":"262","author":"Johnson","year":"1987","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.gene.2012.05.035_bb0105","first-page":"980","article-title":"Etiologic heterogeneity of neural tube defects. II. Clues from family studies","volume":"34","author":"Khoury","year":"1982","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2012.05.035_bb0110","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1093\/oxfordjournals.aje.a113335","article-title":"Etiologic heterogeneity of neural tube defects: clues from epidemiology","volume":"115","author":"Khoury","year":"1982","journal-title":"Am. J. Epidemiol."},{"key":"10.1016\/j.gene.2012.05.035_bb0115","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1111\/j.1399-0004.2007.00793.x","article-title":"Toward understanding the genetic basis of neural tube defects","volume":"71","author":"Kibar","year":"2007","journal-title":"Clin. Genet."},{"key":"10.1016\/j.gene.2012.05.035_bb0125","doi-asserted-by":"crossref","first-page":"6132","DOI":"10.1073\/pnas.94.12.6132","article-title":"Deficiency of a protein-repair enzyme results in the accumulation of altered proteins, retardation of growth, and fatal seizures in mice","volume":"94","author":"Kim","year":"1997","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.gene.2012.05.035_bb0120","doi-asserted-by":"crossref","first-page":"20671","DOI":"10.1074\/jbc.274.29.20671","article-title":"Phenotypic analysis of seizure-prone mice lacking l-isoaspartate (d-aspartate) O-methyltransferase","volume":"274","author":"Kim","year":"1999","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.gene.2012.05.035_bb0130","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1016\/j.bbrc.2008.03.109","article-title":"Suppression of protein l-isoaspartyl (d-aspartyl) methyltransferase results in hyperactivation of EGF-stimulated MEK\u2013ERK signaling in cultured mammalian cells","volume":"371","author":"Kosugi","year":"2008","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.gene.2012.05.035_bb0135","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1016\/j.yexcr.2003.10.003","article-title":"Protein l-isoaspartyl methyltransferase repairs abnormal aspartyl residues accumulated in vivo in type-I collagen and restores cell migration","volume":"293","author":"Lanthier","year":"2004","journal-title":"Exp. Cell Res."},{"key":"10.1016\/j.gene.2012.05.035_bb0140","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1002\/bdra.20248","article-title":"Extremely high prevalence of neural tube defects in a 4-county area in Shanxi Province, China","volume":"76","author":"Li","year":"2006","journal-title":"Birth Defects Res. A Clin. Mol. Teratol."},{"key":"10.1016\/j.gene.2012.05.035_bb0145","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1002\/ajmg.1320160410","article-title":"Phenotypic heterogeneity in neural tube defects: a clue to causal heterogeneity","volume":"16","author":"Martin","year":"1983","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.gene.2012.05.035_bb0150","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1002\/bdra.20520","article-title":"Uncoupling protein 2 polymorphisms as risk factors for NTDs","volume":"85","author":"Mitchell","year":"2009","journal-title":"Birth Defects Res. A Clin. Mol. Teratol."},{"key":"10.1016\/j.gene.2012.05.035_bb0155","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1038\/nprot.2007.10","article-title":"Simultaneous mutation scanning and genotyping by high-resolution DNA melting analysis","volume":"2","author":"Montgomery","year":"2007","journal-title":"Nat. Protoc."},{"key":"10.1016\/j.gene.2012.05.035_bb0160","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1093\/molehr\/gam017","article-title":"Methylenetetrahydrofolate reductase gene polymorphisms and the risk of anencephaly in Mexico","volume":"13","author":"Munoz","year":"2007","journal-title":"Mol. Hum. Reprod."},{"key":"10.1016\/j.gene.2012.05.035_bb0170","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1006\/bbrc.1995.1989","article-title":"Spontaneous alterations in the covalent structure of synapsin I during in vitro aging","volume":"212","author":"Paranandi","year":"1995","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.gene.2012.05.035_bb0175","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1038\/sj.ejhg.5201603","article-title":"Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population","volume":"14","author":"Parle-McDermott","year":"2006","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.gene.2012.05.035_bb0180","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1083\/jcb.148.4.715","article-title":"Intracellular distribution of mammalian protein kinase A catalytic subunit altered by conserved Asn2 deamidation","volume":"148","author":"Pepperkok","year":"2000","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.gene.2012.05.035_bb0185","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1034\/j.1399-0004.2003.00161.x","article-title":"Genetic susceptibility to neural tube defect pregnancy varies with offspring phenotype","volume":"64","author":"Relton","year":"2003","journal-title":"Clin. Genet."},{"key":"10.1016\/j.gene.2012.05.035_bb0190","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1002\/bdra.20416","article-title":"Correlation of polymorphism of MTHFRs and RFC-1 genes with neural tube defects in China","volume":"82","author":"Shang","year":"2008","journal-title":"Birth Defects Res. A Clin. Mol. Teratol."},{"key":"10.1016\/j.gene.2012.05.035_bb0195","doi-asserted-by":"crossref","first-page":"972","DOI":"10.1093\/ajcn\/78.5.972","article-title":"Neural tube defects associated with maternal periconceptional dietary intake of simple sugars and glycemic index","volume":"78","author":"Shaw","year":"2003","journal-title":"Am. J. Clin. Nutr."},{"key":"10.1016\/j.gene.2012.05.035_bb0200","doi-asserted-by":"crossref","first-page":"1590","DOI":"10.1248\/bpb.28.1590","article-title":"Biological significance of isoaspartate and its repair system","volume":"28","author":"Shimizu","year":"2005","journal-title":"Biol. Pharm. Bull."},{"key":"10.1016\/j.gene.2012.05.035_bb0205","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1023\/B:NERE.0000023597.37698.13","article-title":"Folate-regulated changes in gene expression in the anterior neural tube of folate binding protein-1 (Folbp1)-deficient murine embryos","volume":"29","author":"Spiegelstein","year":"2004","journal-title":"Neurochem. Res."},{"key":"10.1016\/j.gene.2012.05.035_bb0210","first-page":"189","article-title":"Epidemiology of neural tube defects in China","volume":"69","author":"Xiao","year":"1989","journal-title":"Zhonghua Yi Xue Za Zhi"},{"key":"10.1016\/j.gene.2012.05.035_bb0215","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1017\/S1368980008002735","article-title":"Maternal serum vitamin B12, folate and homocysteine and the risk of neural tube defects in the offspring in a high-risk area of China","volume":"12","author":"Zhang","year":"2009","journal-title":"Public Health Nutr."},{"key":"10.1016\/j.gene.2012.05.035_bb0220","doi-asserted-by":"crossref","first-page":"1770","DOI":"10.1373\/clinchem.2005.054924","article-title":"High-resolution DNA melting analysis for simultaneous mutation scanning and genotyping in solution","volume":"51","author":"Zhou","year":"2005","journal-title":"Clin. Chem."},{"key":"10.1016\/j.gene.2012.05.035_bb0225","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1016\/S1096-7192(03)00008-8","article-title":"Homocysteine remethylation enzyme polymorphisms and increased risks for neural tube defects","volume":"78","author":"Zhu","year":"2003","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.gene.2012.05.035_bb0230","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1016\/j.ymgme.2005.09.008","article-title":"A known functional polymorphism (Ile120Val) of the human PCMT1 gene and risk of spina bifida","volume":"87","author":"Zhu","year":"2006","journal-title":"Mol. Genet. Metab."}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111912006233?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111912006233?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,1,16]],"date-time":"2022-01-16T10:33:04Z","timestamp":1642329184000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111912006233"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,9]]},"references-count":45,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2012,9]]}},"alternative-id":["S0378111912006233"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2012.05.035","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2012,9]]}}}