{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,4]],"date-time":"2025-05-04T06:25:00Z","timestamp":1746339900430,"version":"3.40.4"},"reference-count":43,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2013,2,27]],"date-time":"2013-02-27T00:00:00Z","timestamp":1361923200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2013,12]]},"DOI":"10.1038\/ejhg.2013.25","type":"journal-article","created":{"date-parts":[[2013,2,27]],"date-time":"2013-02-27T11:23:08Z","timestamp":1361964188000},"page":"1436-1441","source":"Crossref","is-referenced-by-count":7,"title":["Fetal polymorphisms at the ABCB1-transporter gene locus are associated with susceptibility to non-syndromic oral cleft malformations"],"prefix":"10.1038","volume":"21","author":[{"given":"Ardeshir","family":"Omoumi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zihua","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincent","family":"Yeow","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yah-Huei","family":"Wu-Chou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philip K","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ingo","family":"Ruczinski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joanne","family":"Cheng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Felicia S H","family":"Cheah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caroline G","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Terri H","family":"Beaty","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samuel S","family":"Chong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2013,2,27]]},"reference":[{"key":"BFejhg201325_CR1","first-page":"1233","volume-title":"Toxicology of the Placenta, in General and Applied Toxicology","author":"RC Gupta","year":"2000","unstructured":"Gupta RC, Sastry BV : Toxicology of the Placenta, in General and Applied Toxicology, eds Ballantyne B, Marrs T, Syversen T, 1233\u20131263 Grove\u2019s Dictionaries, Inc: New York, 2000)."},{"key":"BFejhg201325_CR2","doi-asserted-by":"publisher","first-page":"R1495","DOI":"10.1152\/ajpregu.2000.279.4.R1495","volume":"279","author":"MV St-Pierre","year":"2000","unstructured":"St-Pierre MV, Serrano MA, Macias RI et al: Expression of members of the multidrug resistance protein family in human term placenta. Am J Physiol Regul Integr Comp Physiol 2000; 279: R1495\u2013R1503.","journal-title":"Am J Physiol Regul Integr Comp Physiol"},{"key":"BFejhg201325_CR3","doi-asserted-by":"publisher","first-page":"488","DOI":"10.1016\/S0266-4356(96)90242-9","volume":"34","author":"A Derijcke","year":"1996","unstructured":"Derijcke A, Eerens A, Carels C : The incidence of oral clefts: a review. Br J Oral Maxillofac Surg 1996; 34: 488\u2013494.","journal-title":"Br J Oral Maxillofac Surg"},{"key":"BFejhg201325_CR4","doi-asserted-by":"publisher","first-page":"580","DOI":"10.1597\/05-167","volume":"43","author":"Me Cooper","year":"2006","unstructured":"Cooper Me, Ratay JS, Marazita ML : Asian oral-facial cleft birth prevalence. Cleft Palate Craniofac J 2006; 43: 580\u2013589.","journal-title":"Cleft Palate Craniofac J"},{"key":"BFejhg201325_CR5","doi-asserted-by":"publisher","first-page":"270","DOI":"10.1016\/j.gde.2005.03.003","volume":"15","author":"A Jugessur","year":"2005","unstructured":"Jugessur A, Murray JC : Orofacial clefting: recent insights into a complex trait. Curr Opin Genet Dev 2005; 15: 270\u2013278.","journal-title":"Curr Opin Genet Dev"},{"key":"BFejhg201325_CR6","doi-asserted-by":"publisher","first-page":"1436","DOI":"10.1111\/j.1528-1157.2000.tb00119.x","volume":"41","author":"C Arpino","year":"2000","unstructured":"Arpino C, Brescianini S, Robert E et al: Teratogenic effects of antiepileptic drugs: use of an International Database on Malformations and Drug Exposure (MADRE). Epilepsia 2000; 41: 1436\u20131443.","journal-title":"Epilepsia"},{"key":"BFejhg201325_CR7","first-page":"213","volume":"82","author":"J Little","year":"2004","unstructured":"Little J, Cardy A, Munger RG : Tobacco smoking and oral clefts: a meta-analysis. Bull World Health Organ 2004; 82: 213\u2013218.","journal-title":"Bull World Health Organ"},{"key":"BFejhg201325_CR8","doi-asserted-by":"publisher","first-page":"415","DOI":"10.2105\/AJPH.90.3.415","volume":"90","author":"C Lorente","year":"2000","unstructured":"Lorente C, Cordier S, Goujard J et al: Tobacco and alcohol use during pregnancy and risk of oral clefts. Occupational Exposure and Congenital Malformation Working Group. Am J Public Health 2000; 90: 415\u2013419.","journal-title":"Am J Public Health"},{"key":"BFejhg201325_CR9","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1054\/bjom.1999.0133","volume":"38","author":"N Natsume","year":"2000","unstructured":"Natsume N, Kawai T, Ogi N, Yoshida W : Maternal risk factors in cleft lip and palate: case control study. Br J Oral Maxillofac Surg 2000; 38: 23\u201325.","journal-title":"Br J Oral Maxillofac Surg"},{"key":"BFejhg201325_CR10","doi-asserted-by":"publisher","first-page":"1608","DOI":"10.1056\/NEJM200011303432204","volume":"343","author":"S Hernandez-Diaz","year":"2000","unstructured":"Hernandez-Diaz S, Werler MM, Walker AM, Mitchell AA : Folic acid antagonists during pregnancy and the risk of birth defects. N Engl J Med 2000; 343: 1608\u20131614.","journal-title":"N Engl J Med"},{"key":"BFejhg201325_CR11","doi-asserted-by":"publisher","first-page":"385","DOI":"10.1038\/nrg1839","volume":"7","author":"NM Laird","year":"2006","unstructured":"Laird NM, Lange C : Family-based designs in the age of large-scale gene-association studies. Nat Rev Genet 2006; 7: 385\u2013394.","journal-title":"Nat Rev Genet"},{"key":"BFejhg201325_CR12","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1002\/sim.973","volume":"21","author":"WJ Gauderman","year":"2002","unstructured":"Gauderman WJ : Sample size requirements for matched case-control studies of gene-environment interaction. Stat Med 2002; 21: 35\u201350.","journal-title":"Stat Med"},{"key":"BFejhg201325_CR13","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1067\/mcp.2001.117412","volume":"70","author":"RB Kim","year":"2001","unstructured":"Kim RB, Leake BF, Choo EF et al: Identification of functionally variant MDR1 alleles among European Americans and African Americans. Clin Pharmacol Ther 2001; 70: 189\u2013199.","journal-title":"Clin Pharmacol Ther"},{"key":"BFejhg201325_CR14","doi-asserted-by":"publisher","first-page":"437","DOI":"10.1097\/00008571-200208000-00004","volume":"12","author":"K Tang","year":"2002","unstructured":"Tang K, Ngoi SM, Gwee PC et al: Distinct haplotype profiles and strong linkage disequilibrium at the MDR1 multidrug transporter gene locus in three ethnic Asian populations. Pharmacogenetics 2002; 12: 437\u2013450.","journal-title":"Pharmacogenetics"},{"key":"BFejhg201325_CR15","doi-asserted-by":"publisher","first-page":"323","DOI":"10.1111\/j.1469-1809.1995.tb00751.x","volume":"59","author":"PC Sham","year":"1995","unstructured":"Sham PC, Curtis D : An extended transmission\/disequilibrium test (TDT) for multi-allele marker loci. Ann Hum Genet 1995; 59: 323\u2013336.","journal-title":"Ann Hum Genet"},{"key":"BFejhg201325_CR16","doi-asserted-by":"publisher","first-page":"329","DOI":"10.1046\/J.1469-1809.2005.00156.x","volume":"69","author":"GR Kazeem","year":"2005","unstructured":"Kazeem GR, Farrall M : Integrating case-control and TDT studies. Ann Hum Genet 2005; 69: 329\u2013335.","journal-title":"Ann Hum Genet"},{"key":"BFejhg201325_CR17","doi-asserted-by":"publisher","first-page":"268","DOI":"10.1016\/j.placenta.2004.05.013","volume":"26","author":"S Gil","year":"2005","unstructured":"Gil S, Saura R, Forestier F, Farinotti R : P-glycoprotein expression of the human placenta during pregnancy. Placenta 2005; 26: 268\u2013270.","journal-title":"Placenta"},{"key":"BFejhg201325_CR18","doi-asserted-by":"publisher","first-page":"R963","DOI":"10.1152\/ajpregu.00173.2005","volume":"289","author":"AA Mathias","year":"2005","unstructured":"Mathias AA, Hitti J, Unadkat JD : P-glycoprotein and breast cancer resistance protein expression in human placentae of various gestational ages. Am J Physiol Regul Integr Comp Physiol 2005; 289: R963\u2013R969.","journal-title":"Am J Physiol Regul Integr Comp Physiol"},{"key":"BFejhg201325_CR19","doi-asserted-by":"publisher","first-page":"602","DOI":"10.1016\/j.placenta.2005.05.007","volume":"27","author":"M Sun","year":"2006","unstructured":"Sun M, Kingdom J, Baczyk D, Lye SJ, Matthews SG, Gibb W : Expression of the multidrug resistance P-glycoprotein, (ABCB1 glycoprotein) in the human placenta decreases with advancing gestation. Placenta 2006; 27: 602\u2013609.","journal-title":"Placenta"},{"key":"BFejhg201325_CR20","doi-asserted-by":"publisher","first-page":"1244","DOI":"10.1007\/s11095-008-9537-z","volume":"25","author":"Q Mao","year":"2008","unstructured":"Mao Q : BCRP\/ABCG2 in the placenta: expression, function and regulation. Pharm Res 2008; 25: 1244\u20131255.","journal-title":"Pharm Res"},{"key":"BFejhg201325_CR21","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1016\/S0006-291X(03)00327-9","volume":"303","author":"L Pascolo","year":"2003","unstructured":"Pascolo L, Fernetti C, Pirulli D, Crovella S, Amoroso A, Tiribelli C : Effects of maturation on RNA transcription and protein expression of four MRP genes in human placenta and in BeWo cells. Biochem Biophys Res Commun 2003; 303: 259\u2013265.","journal-title":"Biochem Biophys Res Commun"},{"key":"BFejhg201325_CR22","doi-asserted-by":"publisher","first-page":"896","DOI":"10.1124\/dmd.104.003335","volume":"33","author":"HE Meyer zu Schwabedissen","year":"2005","unstructured":"Meyer zu Schwabedissen HE, Jedlitschky G, Gratz M et al: Variable expression of MRP2 (ABCC2) in human placenta: influence of gestational age and cellular differentiation. Drug Metab Dispos 2005; 33: 896\u2013904.","journal-title":"Drug Metab Dispos"},{"key":"BFejhg201325_CR23","doi-asserted-by":"publisher","first-page":"400","DOI":"10.1016\/j.reprotox.2006.01.007","volume":"22","author":"M Ceckova-Novotna","year":"2006","unstructured":"Ceckova-Novotna M, Pavek P, Staud F : P-glycoprotein in the placenta: expression, localization, regulation and function. Reprod Toxicol 2006; 22: 400\u2013410.","journal-title":"Reprod Toxicol"},{"key":"BFejhg201325_CR24","doi-asserted-by":"publisher","first-page":"524","DOI":"10.1124\/dmd.104.002261","volume":"33","author":"D Kolwankar","year":"2005","unstructured":"Kolwankar D, Glover DD, Ware JA, Tracy TS : Expression and function of ABCB1 and ABCG2 in human placental tissue. Drug Metab Dispos 2005; 33: 524\u2013529.","journal-title":"Drug Metab Dispos"},{"key":"BFejhg201325_CR25","doi-asserted-by":"publisher","first-page":"457","DOI":"10.1016\/S0890-6238(98)00027-6","volume":"12","author":"GR Lankas","year":"1998","unstructured":"Lankas GR, Wise LD, Cartwright ME, Pippert T, Umbenhauer DR : Placental P-glycoprotein deficiency enhances susceptibility to chemically induced birth defects in mice. Reprod Toxicol 1998; 12: 457\u2013463.","journal-title":"Reprod Toxicol"},{"key":"BFejhg201325_CR26","doi-asserted-by":"publisher","first-page":"1441","DOI":"10.1172\/JCI7963","volume":"104","author":"JW Smit","year":"1999","unstructured":"Smit JW, Huisman MT, van Tellingen O, Wiltshire HR, Schinkel AH : Absence or pharmacological blocking of placental P-glycoprotein profoundly increases fetal drug exposure. J Clin Invest 1999; 104: 1441\u20131447.","journal-title":"J Clin Invest"},{"key":"BFejhg201325_CR27","doi-asserted-by":"publisher","first-page":"309","DOI":"10.1097\/00008571-200405000-00006","volume":"14","author":"M Hitzl","year":"2004","unstructured":"Hitzl M, Schaeffeler E, Hocher B et al: Variable expression of P-glycoprotein in the human placenta and its association with mutations of the multidrug resistance 1 gene (MDR1, ABCB1). Pharmacogenetics 2004; 14: 309\u2013318.","journal-title":"Pharmacogenetics"},{"key":"BFejhg201325_CR28","first-page":"S172","volume":"197","author":"A-R Sherif","year":"2007","unstructured":"Sherif A-R, Tatiana N, Gary DVH, Mahmoud A : Effect of the G2677A\/T polymorphism in the multidrug resistance 1 gene (MDR1, ABCB1) on P-glycoprotein (P-gp) expression in human placenta. Am J Obs Gyn 2007; 197: S172.","journal-title":"Am J Obs Gyn"},{"key":"BFejhg201325_CR29","doi-asserted-by":"crossref","first-page":"1137","DOI":"10.1016\/S0022-3565(24)29643-9","volume":"297","author":"M Tanabe","year":"2001","unstructured":"Tanabe M, Ieiri I, Nagata N et al: Expression of P-glycoprotein in human placenta: relation to genetic polymorphism of the multidrug resistance (MDR)-1 gene. J Pharmacol Exp Ther 2001; 297: 1137\u20131143.","journal-title":"J Pharmacol Exp Ther"},{"key":"BFejhg201325_CR30","doi-asserted-by":"publisher","first-page":"56","DOI":"10.1038\/sj.tpj.6500403","volume":"7","author":"S Haenisch","year":"2007","unstructured":"Haenisch S, Zimmermann U, Dazert E et al: Influence of polymorphisms of ABCB1 and ABCC2 on mRNA and protein expression in normal and cancerous kidney cortex. Pharmacogenomics J 2007; 7: 56\u201365.","journal-title":"Pharmacogenomics J"},{"key":"BFejhg201325_CR31","doi-asserted-by":"publisher","first-page":"381","DOI":"10.1097\/00008571-200406000-00007","volume":"14","author":"K Meissner","year":"2004","unstructured":"Meissner K, Jedlitschky G, Meyer zu Schwabedissen H et al: Modulation of multidrug resistance P-glycoprotein 1 (ABCB1) expression in human heart by hereditary polymorphisms. Pharmacogenetics 2004; 14: 381\u2013385.","journal-title":"Pharmacogenetics"},{"key":"BFejhg201325_CR32","doi-asserted-by":"publisher","first-page":"e39","DOI":"10.1371\/journal.pgen.0030039","volume":"3","author":"H Jeong","year":"2007","unstructured":"Jeong H, Herskowitz I, Kroetz DL, Rine J : Function-altering SNPs in the human multidrug transporter gene ABCB1 identified using a Saccharomyces-based assay. PLoS Genet 2007; 3: e39.","journal-title":"PLoS Genet"},{"key":"BFejhg201325_CR33","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1038\/sj.tpj.6500465","volume":"8","author":"RE Aird","year":"2008","unstructured":"Aird RE, Thomson M, Macpherson JS, Thurston DE, Jodrell DI, Guichard SM : ABCB1 genetic polymorphism influences the pharmacology of the new pyrrolobenzodiazepine derivative SJG-136. Pharmacogenomics J 2008; 8: 289\u2013296.","journal-title":"Pharmacogenomics J"},{"key":"BFejhg201325_CR34","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1097\/FPC.0b013e3282f60a91","volume":"18","author":"R Vaclavikova","year":"2008","unstructured":"Vaclavikova R, Nordgard SH, Alnaes GI et al: Single nucleotide polymorphisms in the multidrug resistance gene 1 (ABCB1): effects on its expression and clinicopathological characteristics in breast cancer patients. Pharmacogenet Genomics 2008; 18: 263\u2013273.","journal-title":"Pharmacogenet Genomics"},{"key":"BFejhg201325_CR35","doi-asserted-by":"publisher","first-page":"279","DOI":"10.1080\/10937400306466","volume":"6","author":"Aw Abu-Qare","year":"2003","unstructured":"Abu-Qare Aw, Elmasry E, Abou-Donia MB : A role for P-glycoprotein in environmental toxicology. J Toxicol Environ Health B Crit Rev 2003; 6: 279\u2013288.","journal-title":"J Toxicol Environ Health B Crit Rev"},{"key":"BFejhg201325_CR36","first-page":"3246","volume":"9","author":"RH Mathijssen","year":"2003","unstructured":"Mathijssen RH, Marsh S, Karlsson MO et al: Irinotecan pathway genotype analysis to predict pharmacokinetics. Clin Cancer Res 2003; 9: 3246\u20133253.","journal-title":"Clin Cancer Res"},{"key":"BFejhg201325_CR37","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1126\/science.1135308","volume":"315","author":"C Kimchi-Sarfaty","year":"2007","unstructured":"Kimchi-Sarfaty C, Oh JM, Kim IW et al: A \"silent\" polymorphism in the MDR1 gene changes substrate specificity. Science 2007; 315: 525\u2013528.","journal-title":"Science"},{"key":"BFejhg201325_CR38","doi-asserted-by":"publisher","first-page":"693","DOI":"10.1097\/01.fpc.0000178311.02878.83","volume":"15","author":"D Wang","year":"2005","unstructured":"Wang D, Johnson AD, Papp AC, Kroetz DL, Sadee W : Multidrug resistance polypeptide 1 (MDR1, ABCB1) variant 3435C&gt;T affects mRNA stability. Pharmacogenet Genomics 2005; 15: 693\u2013704.","journal-title":"Pharmacogenet Genomics"},{"key":"BFejhg201325_CR39","doi-asserted-by":"publisher","first-page":"1367","DOI":"10.1093\/hmg\/ddm087","volume":"16","author":"Z Wang","year":"2007","unstructured":"Wang Z, Wang J, Tantoso E et al: Signatures of recent positive selection at the ATP-binding cassette drug transporter superfamily gene loci. Hum Mol Genet 2007a; 16: 1367\u20131380.","journal-title":"Hum Mol Genet"},{"key":"BFejhg201325_CR40","doi-asserted-by":"publisher","first-page":"238","DOI":"10.1002\/ijc.11669","volume":"109","author":"S Mizuarai","year":"2004","unstructured":"Mizuarai S, Aozasa N, Kotani H : Single nucleotide polymorphisms result in impaired membrane localization and reduced ATPase activity in multidrug transporter ABCG2. Int J Cancer 2004; 109: 238\u2013246.","journal-title":"Int J Cancer"},{"key":"BFejhg201325_CR41","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1124\/dmd.104.001628","volume":"33","author":"D Kobayashi","year":"2005","unstructured":"Kobayashi D, Ieiri I, Hirota T et al: Functional assessment of ABCG2 (BCRP) gene polymorphisms to protein expression in human placenta. Drug Metab Dispos 2005; 33: 94\u2013101.","journal-title":"Drug Metab Dispos"},{"key":"BFejhg201325_CR42","doi-asserted-by":"publisher","first-page":"231","DOI":"10.1111\/j.1349-7006.2006.00371.x","volume":"98","author":"A Tamura","year":"2007","unstructured":"Tamura A, Wakabayashi K, Onishi Y et al: Re-evaluation and functional classification of non-synonymous single nucleotide polymorphisms of the human ATP-binding cassette transporter ABCG2. Cancer Sci 2007; 98: 231\u2013239.","journal-title":"Cancer Sci"},{"key":"BFejhg201325_CR43","doi-asserted-by":"publisher","first-page":"e85","DOI":"10.1371\/journal.pgen.0030085","volume":"3","author":"GW Yeo","year":"2007","unstructured":"Yeo GW, Van Nostrand EL, Liang TY : Discovery and analysis of evolutionarily conserved intronic splicing regulatory elements. PLoS Genet 2007; 3: e85.","journal-title":"PLoS Genet"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg201325.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg201325","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg201325.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,29]],"date-time":"2025-04-29T22:17:07Z","timestamp":1745965027000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg201325"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,2,27]]},"references-count":43,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["BFejhg201325"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2013.25","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"type":"print","value":"1018-4813"},{"type":"electronic","value":"1476-5438"}],"subject":[],"published":{"date-parts":[[2013,2,27]]}}}