Publications
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, “Huwe1 as a therapeutic target for neural injury”, vol. 13. pp. 4320-4325, 2014.
, “Separation, purification, and identification of flagellin, and preparation of its antisera”, vol. 13, pp. 9161-9170, 2014.
, “A66G and C524T polymorphisms of the methionine synthase reductase gene are associated with congenital heart defects in the Chinese Han population”, vol. 10, pp. 2597-2605, 2011.
Berry RJ, Li Z, Erickson JD, Li S, et al. (1999). Prevention of neural-tube defects with folic acid in China. China-U.S. Collaborative Project for Neural Tube Defect Prevention. N. Engl. J. Med. 341: 1485-1490.
http://dx.doi.org/10.1056/NEJM199911113412001
PMid:10559448
Botto LD and Correa A (2003). Decreasing the burden of congenital heart anomalies: an epidemiologic evaluation of risk factors and survival. Prog. Pediatr. Cardiol. 18: 111-121.
http://dx.doi.org/10.1016/S1058-9813(03)00084-5
Botto LD, Khoury MJ, Mulinare J and Erickson JD (1996). Periconceptional multivitamin use and the occurrence of conotruncal heart defects: results from a population-based, case-control study. Pediatrics 98: 911-917.
PMid:8909485
Botto LD, Mulinare J and Erickson JD (2000). Occurrence of congenital heart defects in relation to maternal mulitivitamin use. Am. J. Epidemiol. 151: 878-884.
PMid:10791560
Botto LD, Mulinare J and Erickson JD (2003). Do multivitamin or folic acid supplements reduce the risk for congenital heart defects? Evidence and gaps. Am. J. Med. Genet. A 121A: 95-101.
http://dx.doi.org/10.1002/ajmg.a.20132
PMid:12910485
Botto LD, Olney RS and Erickson JD (2004). Vitamin supplements and the risk for congenital anomalies other than neural tube defects. Am. J. Med. Genet. C. Semin. Med. Genet. 125C: 12-21.
http://dx.doi.org/10.1002/ajmg.c.30004
PMid:14755429
Brookes AJ (1999). The essence of SNPs. Gene 234: 177-186.
http://dx.doi.org/10.1016/S0378-1119(99)00219-X
Czeizel AE (1998). Periconceptional folic acid containing multivitamin supplementation. Eur. J. Obstet. Gynecol. Reprod. Biol. 78: 151-161.
http://dx.doi.org/10.1016/S0301-2115(98)00061-X
Czeizel AE and Dudás I (1992). Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation. N. Engl. J. Med. 327: 1832-1835.
http://dx.doi.org/10.1056/NEJM199212243272602
PMid:1307234
Czeizel AE, Dobo M and Vargha P (2004). Hungarian cohort-controlled trial of periconceptional multivitamin supplementation shows a reduction in certain congenital abnormalities. Birth Defects Res. A Clin. Mol. Teratol. 70: 853-861.
http://dx.doi.org/10.1002/bdra.20086
PMid:15523663
Deng L, Elmore CL, Lawrance AK, Matthews RG, et al. (2008). Methionine synthase reductase deficiency results in adverse reproductive outcomes and congenital heart defects in mice. Mol. Genet. Metab. 94: 336-342.
http://dx.doi.org/10.1016/j.ymgme.2008.03.004
PMid:18413293 PMCid:3110750
Elmore CL, Wu X, Leclerc D, Watson ED, et al. (2007). Metabolic derangement of methionine and folate metabolism in mice deficient in methionine synthase reductase. Mol. Genet. Metab. 91: 85-97.
http://dx.doi.org/10.1016/j.ymgme.2007.02.001
PMid:17369066 PMCid:1973089
Fredriksen A, Meyer K, Ueland PM, Vollset SE, et al. (2007). Large-scale population-based metabolic phenotyping of thirteen genetic polymorphisms related to one-carbon metabolism. Hum. Mutat. 28: 856-865.
http://dx.doi.org/10.1002/humu.20522
PMid:17436311
Gellekink H, den Heijer M, Heil SG and Blom HJ (2005). Genetic determinants of plasma total homocysteine. Semin. Vasc. Med. 5: 98-109.
http://dx.doi.org/10.1055/s-2005-872396
PMid:16047263
Hoffman JI and Kaplan S (2002). The incidence of congenital heart disease. J. Am. Coll. Cardiol. 39: 1890-1900.
http://dx.doi.org/10.1016/S0735-1097(02)01886-7
Huhta JC, Linask K and Bailey L (2006). Recent advances in the prevention of congenital heart disease. Curr. Opin. Pediatr. 18: 484-489.
http://dx.doi.org/10.1097/01.mop.0000245347.45336.d7
PMid:16969161
Itikala PR, Watkins ML, Mulinare J, Moore CA, et al. (2001). Maternal multivitamin use and orofacial clefts in offspring. Teratology 63: 79-86.
http://dx.doi.org/10.1002/1096-9926(200102)63:2<79::AID-TERA1013>3.0.CO;2-3
Kapusta L, Haagmans ML, Steegers EA, Cuypers MH, et al. (1999). Congenital heart defects and maternal derangement of homocysteine metabolism. J. Pediatr. 135: 773-774.
http://dx.doi.org/10.1016/S0022-3476(99)70102-2
Lai E (2001). Application of SNP technologies in medicine: lessons learned and future challenges. Genome Res. 11: 927- 929.
http://dx.doi.org/10.1101/gr.192301
PMid:11381021
Leclerc D, Odievre M, Wu Q, Wilson A, et al. (1999). Molecular cloning, expression and physical mapping of the human methionine synthase reductase gene. Gene 240: 75-88.
http://dx.doi.org/10.1016/S0378-1119(99)00431-X
Olteanu H and Banerjee R (2001). Human methionine synthase reductase, a soluble P-450 reductase-like dual flavoprotein, is sufficient for NADPH-dependent methionine synthase activation. J. Biol. Chem. 276: 35558-35563.
http://dx.doi.org/10.1074/jbc.M103707200
PMid:11466310
Rosenquist TH, Ratashak SA and Selhub J (1996). Homocysteine induces congenital defects of the heart and neural tube: effect of folic acid. Proc. Natl. Acad. Sci. U. S. A. 93: 15227-15232.
http://dx.doi.org/10.1073/pnas.93.26.15227
Shaw GM, Lu W, Zhu H, Yang W, et al. (2009). 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects. BMC Med. Genet. 10: 49.
http://dx.doi.org/10.1186/1471-2350-10-49
PMid:19493349 PMCid:2700092
Silaste ML, Rantala M, Sampi M, Alfthan G, et al. (2001). Polymorphisms of key enzymes in homocysteine metabolism affect diet responsiveness of plasma homocysteine in healthy women. J. Nutr. 131: 2643-2647.
PMid:11584084
Swanson DA, Liu ML, Baker PJ, Garrett L, et al. (2001). Targeted disruption of the methionine synthase gene in mice. Mol. Cell. Biol. 21: 1058-1065.
http://dx.doi.org/10.1128/MCB.21.4.1058-1065.2001
PMid:11158293 PMCid:99560
Tennstedt C, Chaoui R, Korner H and Dietel M (1999). Spectrum of congenital heart defects and extracardiac malformations associated with chromosomal abnormalities: results of a seven year necropsy study. Heart 82: 34-39.
PMid:10377306 PMCid:1729082
Tierney BJ, Ho T, Reedy MV and Brauer PR (2004). Homocysteine inhibits cardiac neural crest cell formation and morphogenesis in vivo. Dev. Dyn. 229: 63-73.
http://dx.doi.org/10.1002/dvdy.10469
PMid:14699578
van Beynum IM, Kouwenberg M, Kapusta L, den Heijer M, et al. (2006). MTRR 66A>G polymorphism in relation to congenital heart defects. Clin. Chem. Lab. Med. 44: 1317-1323.
http://dx.doi.org/10.1515/CCLM.2006.254
PMid:17087642
Verkleij-Hagoort AC, Verlinde M, Ursem NT, Lindemans J, et al. (2006). Maternal hyperhomocysteinaemia is a risk factor for congenital heart disease. BJOG 113: 1412-1418.
http://dx.doi.org/10.1111/j.1471-0528.2006.01109.x
Verkleij-Hagoort AC, van Driel LM, Lindemans J, Isaacs A, et al. (2008). Genetic and lifestyle factors related to the periconception vitamin B12 status and congenital heart defects: a dutch case-control study. Mol. Genet. Metab. 94: 112-119.
http://dx.doi.org/10.1016/j.ymgme.2007.12.002
PMid:18226574
, “Common ABCB1 polymorphisms associated with susceptibility to infantile spasms in the Chinese Han population”, vol. 10, pp. 2569-2577, 2011.
Aronica E, Gorter JA, Ramkema M, Redeker S, et al. (2004). Expression and cellular distribution of multidrug resistance-related proteins in the hippocampus of patients with mesial temporal lobe epilepsy. Epilepsia 45: 441-451.
http://dx.doi.org/10.1111/j.0013-9580.2004.57703.x
PMid:15101825
Bobele GB and Bodensteiner JB (1994). The treatment of infantile spasms by child neurologists. J. Child. Neurol. 9: 432-435.
http://dx.doi.org/10.1177/088307389400900420
PMid:7822738
Engel J Jr (2001). A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology. Epilepsia 42: 796-803.
http://dx.doi.org/10.1046/j.1528-1157.2001.10401.x
PMid:11422340
Fois A (2010). Infantile spasms: review of the literature and personal experience. Ital. J. Pediatr. 36: 15.
http://dx.doi.org/10.1186/1824-7288-36-15
PMid:20181122 PMCid:2829573
Frost JD Jr and Hrachovy RA (2005). Pathogenesis of infantile spasms: a model based on developmental desynchronization. J. Clin. Neurophysiol. 22: 25-36.
http://dx.doi.org/10.1097/01.WNP.0000149893.12678.44
PMid:15689710
Hancock E, Osborne JP and Milner P (2001). The treatment of West syndrome: a Cochrane review of the literature to December 2000. Brain Dev. 23: 624-634.
http://dx.doi.org/10.1016/S0387-7604(01)00299-6
Hung CC, Jen TJ, Kao PJ, Lin MS, et al. (2007). Association of polymorphisms in NR1I2 and ABCB1 genes with epilepsy treatment responses. Pharmacogenomics 8: 1151-1158.
http://dx.doi.org/10.2217/14622416.8.9.1151
PMid:17924830
Ito M, Seki T and Takuma Y (2000). Current therapy for West syndrome in Japan. J. Child. Neurol. 15: 424-428.
http://dx.doi.org/10.1177/088307380001500615
PMid:10868790
Kim YO, Kim MK, Woo YJ, Lee MC, et al. (2006). Single nucleotide polymorphisms in the multidrug resistance 1 gene in Korean epileptics. Seizure 15: 67-72.
http://dx.doi.org/10.1016/j.seizure.2005.11.001
PMid:16386926
Kimchi-Sarfaty C, Oh JM, Kim IW, Sauna ZE, et al. (2007). A “silent” polymorphism in the MDR1 gene changes substrate specificity. Science 315: 525-528.
http://dx.doi.org/10.1126/science.1135308
PMid:17185560
Komar AA (2007). Silent SNPs: impact on gene function and phenotype. Pharmacogenomics 8: 1075-1080.
http://dx.doi.org/10.2217/14622416.8.8.1075
PMid:17716239
Koo B, Hwang PA and Logan WJ (1993). Infantile spasms: outcome and prognostic factors of cryptogenic and symptomatic groups. Neurology 43: 2322-2327.
PMid:8232950
Kwan P, Baum L, Wong V, Ng PW, et al. (2007). Association between ABCB1 C3435T polymorphism and drug-resistant epilepsy in Han Chinese. Epilepsy Behav. 11: 112-117.
http://dx.doi.org/10.1016/j.yebeh.2007.04.013
Leschziner GD, Andrew T, Pirmohamed M and Johnson MR (2007). ABCB1 genotype and PGP expression, function and therapeutic drug response: a critical review and recommendations for future research. Pharmacogenomics J. 7: 154-179.
http://dx.doi.org/10.1038/sj.tpj.6500413
PMid:16969364
Loscher W and Delanty N (2009). MDR1/ABCB1 polymorphisms and multidrug resistance in epilepsy: in and out of fashion. Pharmacogenomics 10: 711-713.
http://dx.doi.org/10.2217/pgs.09.47
PMid:19450121
Lux AL and Osborne JP (2004). A proposal for case definitions and outcome measures in studies of infantile spasms and West syndrome: consensus statement of the West Delphi group. Epilepsia 45: 1416-1428.
http://dx.doi.org/10.1111/j.0013-9580.2004.02404.x
PMid:15509243
Mikati MA, Lepejian GA and Holmes GL (2002). Medical treatment of patients with infantile spasms. Clin. Neuropharmacol. 25: 61-70.
http://dx.doi.org/10.1097/00002826-200203000-00001
PMid:11981230
Miller SA, Dykes DD and Polesky HF (1988). A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16: 1215.
http://dx.doi.org/10.1093/nar/16.3.1215
PMid:3344216 PMCid:334765
Pellock JM (1990). The classification of childhood seizures and epilepsy syndromes. Neurol. Clin. 8: 619-632.
PMid:2215459
Rantala H and Putkonen T (1999). Occurrence, outcome, and prognostic factors of infantile spasms and Lennox-Gastaut syndrome. Epilepsia 40: 286-289.
http://dx.doi.org/10.1111/j.1528-1157.1999.tb00705.x
PMid:10080506
Riikonen R (2004). Infantile spasms: therapy and outcome. J. Child. Neurol. 19: 401-404.
PMid:15446386
Seo T, Ishitsu T, Ueda N, Nakada N, et al. (2006). ABCB1 polymorphisms influence the response to antiepileptic drugs in Japanese epilepsy patients. Pharmacogenomics 7: 551-561.
http://dx.doi.org/10.2217/14622416.7.4.551
PMid:16753003
Siddiqui A, Kerb R, Weale ME, Brinkmann U, et al. (2003). Association of multidrug resistance in epilepsy with a polymorphism in the drug-transporter gene ABCB1. N. Engl. J. Med. 348: 1442-1448.
http://dx.doi.org/10.1056/NEJMoa021986
PMid:12686700
Tishler DM, Weinberg KI, Hinton DR, Barbaro N, et al. (1995). MDR1 gene expression in brain of patients with medically intractable epilepsy. Epilepsia 36: 1-6.
http://dx.doi.org/10.1111/j.1528-1157.1995.tb01657.x
PMid:8001500
Tsao CY (2009). Current trends in the treatment of infantile spasms. Neuropsychiatr. Dis. Treat. 5: 289-299.
http://dx.doi.org/10.2147/NDT.S4488
PMid:19557123 PMCid:2695218
Tsuji T, Okumura A, Ozawa H, Ito M, et al. (2007). Current treatment of West syndrome in Japan. J. Child Neurol. 22: 560-564.
http://dx.doi.org/10.1177/0883073807302606
PMid:17690062
Vahab SA, Sen S, Ravindran N, Mony S, et al. (2009). Analysis of genotype and haplotype effects of ABCB1 (MDR1) polymorphisms in the risk of medically refractory epilepsy in an Indian population. Drug. Metab. Pharmacokinet. 24: 255-260.
http://dx.doi.org/10.2133/dmpk.24.255
PMid:19571437
Wheless JW, Clarke DF and Carpenter D (2005). Treatment of pediatric epilepsy: expert opinion, 2005. J. Child Neurol. 20 (Suppl 1): S1-56.
PMid:16615562
Wheless JW, Clarke DF, Arzimanoglou A and Carpenter D (2007). Treatment of pediatric epilepsy: European expert opinion, 2007. Epileptic Disord. 9: 353-412.
PMid:18077226
Willmore LJ, Abelson MB, Ben-Menachem E, Pellock JM, et al. (2009). Vigabatrin: 2008 update. Epilepsia 50: 163-173.
http://dx.doi.org/10.1111/j.1528-1167.2008.01988.x
PMid:19230067
Wong M and Trevathan E (2001). Infantile spasms. Pediatr. Neurol. 24: 89-98.
http://dx.doi.org/10.1016/S0887-8994(00)00238-1
Zimprich F, Sunder-Plassmann R, Stogmann E and Gleiss A (2004). Association of an ABCB1 gene haplotype with phamacoresistance in temporal lobe epilepsy. Neurology. 63: 1087-1089.
PMid:15452305