Richard Finnell

Summary

Affiliation: Texas A and M University
Country: USA

Publications

  1. ncbi request reprint Molecular basis of environmentally induced birth defects
    Richard H Finnell
    Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, Texas 77030, USA
    Annu Rev Pharmacol Toxicol 42:181-208. 2002
  2. ncbi request reprint Pathobiology and genetics of neural tube defects
    Richard H Finnell
    Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston 77030 3303, USA
    Epilepsia 44:14-23. 2003
  3. ncbi request reprint Gene expression profiling within the developing neural tube
    Richard H Finnell
    Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, TX 77030 3303, USA
    Neurochem Res 27:1165-80. 2002
  4. ncbi request reprint DNA methylation in Folbp1 knockout mice supplemented with folic acid during gestation
    Richard H Finnell
    Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston 77030, USA
    J Nutr 132:2457S-2461S. 2002
  5. ncbi request reprint Does prenatal screening for 5,10-methylenetetrahydrofolate reductase (MTHFR) mutations in high-risk neural tube defect pregnancies make sense?
    Richard H Finnell
    Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, TX 77030, USA
    Genet Test 6:47-52. 2002
  6. ncbi request reprint Risk factors for neural tube defects: associations between uncoupling protein 2 polymorphisms and spina bifida
    Kelly A Volcik
    Institute of BioScience and Technology, Texas A and M University System Health Science Center, Houston, Texas 77030 3303, USA
    Birth Defects Res A Clin Mol Teratol 67:158-61. 2003
  7. ncbi request reprint Neural and orofacial defects in Folp1 knockout mice [corrected]
    Louisa S Tang
    Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, Texas 77030 3303, USA
    Birth Defects Res A Clin Mol Teratol 67:209-18. 2003
  8. ncbi request reprint Arsenic-induced gene expression changes in the neural tube of folate transport defective mouse embryos
    Bogdan J Wlodarczyk
    Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, 77030, USA
    Neurotoxicology 27:547-57. 2006
  9. ncbi request reprint Developmental consequences of in utero sodium arsenate exposure in mice with folate transport deficiencies
    Ofer Spiegelstein
    Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, TX 77030, USA
    Toxicol Appl Pharmacol 203:18-26. 2005
  10. ncbi request reprint Folate-regulated changes in gene expression in the anterior neural tube of folate binding protein-1 (Folbp1)-deficient murine embryos
    Ofer Spiegelstein
    Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, Texas 77030, USA
    Neurochem Res 29:1105-12. 2004

Research Grants

  1. FOLATE RECEPTORS IN CRANIOFACIAL MALFORMATIONS
    Richard Finnell; Fiscal Year: 2002
  2. GENETIC REGULATION OF FOLATE RESPONSIVE BIRTH DEFECTS
    Richard Finnell; Fiscal Year: 2009

Collaborators

Detail Information

Publications76

  1. ncbi request reprint Molecular basis of environmentally induced birth defects
    Richard H Finnell
    Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, Texas 77030, USA
    Annu Rev Pharmacol Toxicol 42:181-208. 2002
    ..Understanding these signaling pathways may lead to the development of safer pharmaceutical compounds and a reduction in the number of infants born with preventable birth defects...
  2. ncbi request reprint Pathobiology and genetics of neural tube defects
    Richard H Finnell
    Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston 77030 3303, USA
    Epilepsia 44:14-23. 2003
    ..The purpose of this review article is to synthesize the existing literature on the genetic factors contributing to NTD risk...
  3. ncbi request reprint Gene expression profiling within the developing neural tube
    Richard H Finnell
    Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, TX 77030 3303, USA
    Neurochem Res 27:1165-80. 2002
    ..We have selected prominent murine mutants, both spontaneous and genetically modified, as well as the use of teratogenic agents, to examine the impact of altering the normal pattern of gene expression in the developing neural tube...
  4. ncbi request reprint DNA methylation in Folbp1 knockout mice supplemented with folic acid during gestation
    Richard H Finnell
    Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston 77030, USA
    J Nutr 132:2457S-2461S. 2002
    ..However, these results suggest that an extended examination of changes in DNA methylation prior to GD 15 is required to unequivocally prove or disprove the hypothesis...
  5. ncbi request reprint Does prenatal screening for 5,10-methylenetetrahydrofolate reductase (MTHFR) mutations in high-risk neural tube defect pregnancies make sense?
    Richard H Finnell
    Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, TX 77030, USA
    Genet Test 6:47-52. 2002
    ....
  6. ncbi request reprint Risk factors for neural tube defects: associations between uncoupling protein 2 polymorphisms and spina bifida
    Kelly A Volcik
    Institute of BioScience and Technology, Texas A and M University System Health Science Center, Houston, Texas 77030 3303, USA
    Birth Defects Res A Clin Mol Teratol 67:158-61. 2003
    ....
  7. ncbi request reprint Neural and orofacial defects in Folp1 knockout mice [corrected]
    Louisa S Tang
    Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, Texas 77030 3303, USA
    Birth Defects Res A Clin Mol Teratol 67:209-18. 2003
    ....
  8. ncbi request reprint Arsenic-induced gene expression changes in the neural tube of folate transport defective mouse embryos
    Bogdan J Wlodarczyk
    Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, 77030, USA
    Neurotoxicology 27:547-57. 2006
    ..Additionally, we revealed new target genes which may be responsible for arsenic disrupted oxidative phosphorylation...
  9. ncbi request reprint Developmental consequences of in utero sodium arsenate exposure in mice with folate transport deficiencies
    Ofer Spiegelstein
    Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, TX 77030, USA
    Toxicol Appl Pharmacol 203:18-26. 2005
    ....
  10. ncbi request reprint Folate-regulated changes in gene expression in the anterior neural tube of folate binding protein-1 (Folbp1)-deficient murine embryos
    Ofer Spiegelstein
    Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, Texas 77030, USA
    Neurochem Res 29:1105-12. 2004
    ..The potential impact of such changes during neural tube closure is considered in light of the phenotype of Folbp1-/- embryos...
  11. ncbi request reprint Associations between polymorphisms within the thymidylate synthase gene and spina bifida
    Kelly A Volcik
    Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, Texas 77030, USA
    Birth Defects Res A Clin Mol Teratol 67:924-8. 2003
    ..We investigated whether TS polymorphisms contribute to spina bifida (SB) risk, given that a reduction in the risk of SB has been linked to folate metabolism...
  12. pmc A known functional polymorphism (Ile120Val) of the human PCMT1 gene and risk of spina bifida
    Huiping Zhu
    Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, TX 77030, USA
    Mol Genet Metab 87:66-70. 2006
    ..6, 95% confidence interval: 0.4-0.9). Our results showed that the Ile120Val polymorphism of PCMT1 gene is a genetic modifier for the risk of spina bifida. Val/Val genotype was associated with a reduction in risk for spina bifida...
  13. ncbi request reprint Valproate-induced neural tube defects in folate-binding protein-2 (Folbp2) knockout mice
    Ofer Spiegelstein
    Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, Texas, USA
    Birth Defects Res A Clin Mol Teratol 67:974-8. 2003
    ..Folate-binding protein-2 nullizygous (Folbp2(-/-)) mice develop normally; however, we have found them to be more susceptible to the teratogenic effects of arsenate exposure than wild-type control mice...
  14. ncbi request reprint Role of Folbp1 in the regional regulation of apoptosis and cell proliferation in the developing neural tube and craniofacies
    Louisa S Tang
    Huffington Center on Aging, Baylor College of Medicine, Houston, TX 77030 3303, USA
    Am J Med Genet C Semin Med Genet 135:48-58. 2005
    ..The results demonstrate a prominent role of Folbp1 in the regional regulation of apoptosis and cell proliferation that underlies the aberrant neural tube and craniofacial defects...
  15. pmc Genetic polymorphisms in the thioredoxin 2 (TXN2) gene and risk for spina bifida
    Shu Wen
    Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M Health Science Center, Houston, TX 77030, USA
    Am J Med Genet A 149:155-60. 2009
    ..This polymorphism may be a genetic modifier of spina bifida risk in this California population...
  16. pmc CHKA and PCYT1A gene polymorphisms, choline intake and spina bifida risk in a California population
    James O Ebot Enaw
    Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, Texas 77030, USA
    BMC Med 4:36. 2006
    ..Choline is an essential nutrient and it is also a methyl donor critical for the maintenance of cell membrane integrity and methyl metabolism. Perturbations in choline metabolism in vitro have been shown to induce NTDs in mouse embryos...
  17. ncbi request reprint Gene-nutrient interactions: importance of folates and retinoids during early embryogenesis
    Richard H Finnell
    Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, TX 77030, USA
    Toxicol Appl Pharmacol 198:75-85. 2004
    ..Although not exhaustive, our goal was to provide an overview of important gene-nutrient interactions and a framework for their investigation...
  18. ncbi request reprint Cardiovascular abnormalities in Folr1 knockout mice and folate rescue
    Huiping Zhu
    Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, Texas, USA
    Birth Defects Res A Clin Mol Teratol 79:257-68. 2007
    ..Folate-binding proteins or receptors serve to bind folic acid and 5-methyltetrahydrofolate, representing one of the two major mechanisms of cellular folate uptake...
  19. ncbi request reprint Developmental consequences of abnormal folate transport during murine heart morphogenesis
    Louisa S Tang
    Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University Health Science Center, Houston, Texas, USA
    Birth Defects Res A Clin Mol Teratol 70:449-58. 2004
    ..In this study, we examined the role of folic acid on the phenotypic expression of heart defects in Folbp1 mice, mindful of the importance of neural crest cells to the formation of the conotruncus...
  20. ncbi request reprint Embryonic development of folate binding protein-1 (Folbp1) knockout mice: Effects of the chemical form, dose, and timing of maternal folate supplementation
    Ofer Spiegelstein
    Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, Texas
    Dev Dyn 231:221-31. 2004
    ..There was no additional benefit provided by L-5M-THF compared with L-5F-THF. Despite rescuing the phenotype in Folbp1(-/-) embryos, no significant elevation of Folbp1(-/-) maternal folate levels was observed with supplementation...
  21. ncbi request reprint Are the betaine-homocysteine methyltransferase (BHMT and BHMT2) genes risk factors for spina bifida and orofacial clefts?
    Huiping Zhu
    Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, Texas 77030, USA
    Am J Med Genet A 135:274-7. 2005
    ..The results of these experiments suggest that variants of the BHMT/BHMT2 genes in infants do not substantially contribute to the risk of spina bifida or orofacial clefts in our study population...
  22. ncbi request reprint Importance of folate-homocysteine homeostasis during early embryonic development
    Shveta Taparia
    Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M Health Science Center, Houston, TX 77030, USA
    Clin Chem Lab Med 45:1717-27. 2007
    ..Herein, we propose how homocysteinylation of the folate receptor may contribute to generation of these autoantibodies against the folate receptor...
  23. pmc Differentially expressed genes in embryonic cardiac tissues of mice lacking Folr1 gene activity
    Huiping Zhu
    Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, Texas 77030, USA
    BMC Dev Biol 7:128. 2007
    ..Defective function of the Folr1 (also known as Folbp1; homologue of human FRalpha) gene in mice results in inadequate transport, accumulation, or metabolism of folate during cardiovascular morphogenesis...
  24. ncbi request reprint Evaluation of infant methylenetetrahydrofolate reductase genotype, maternal vitamin use, and risk of high versus low level spina bifida defects
    Kelly A Volcik
    Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, Texas 77030 0330, USA
    Birth Defects Res A Clin Mol Teratol 67:154-7. 2003
    ..It has been hypothesized that maternal folic acid supplementation prevents NTDs by partially correcting reduced MTHFR activity associated with the variant form of the enzyme...
  25. ncbi request reprint Effects of dietary folate intake and folate binding protein-1 (Folbp1) on urinary speciation of sodium arsenate in mice
    Ofer Spiegelstein
    Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University System Health Science Center, 77030, Houston, TX, USA
    Toxicol Lett 145:167-74. 2003
    ..The present data suggest that inadequate folate intake may result in decreased biotransformation and excretion of arsenic, which is likely to increase arsenic exposure and related toxicities...
  26. pmc Use of a novel genetic mouse model to investigate the role of folate in colitis-associated colon cancer
    Robert S Chapkin
    Faculty of Nutrition, Texas A and M University, College Station, TX 77843 2253, USA
    J Nutr Biochem 20:649-55. 2009
    ..9+/-0.3) and wild-type control mice (1.1+/-0.1). These data demonstrate that the ablation of two receptor/carrier-mediated pathways for folate transport increases the risk for developing inflammation-associated colon cancer...
  27. ncbi request reprint Is Sonic hedgehog (SHH) a candidate gene for spina bifida? A pilot study
    Huiping Zhu
    Institute of BioScience and Technology, Texas A and M University System Health Science Center, Houston, Texas 77030, USA
    Am J Med Genet A 117:87-8. 2003
  28. doi request reprint Autoantibodies to folate receptor during pregnancy and neural tube defect risk
    Robert M Cabrera
    Center for Environmental and Genetic Medicine, Institute for Biosciences and Technology, Texas A and M University Health Science Center, Houston, TX 77030, USA
    J Reprod Immunol 79:85-92. 2008
    ..69) for anti-FR IgG and OR=3.19 (CI=1.47, 6.92) for anti-FR IgM. These data support the hypothesis that high titers of antibodies and blocking of folic acid binding to FRs by maternal serum should be regarded as risk factors for NTDs...
  29. ncbi request reprint Genetic variation in the proto-oncogene SKI and risk for orofacial clefting
    Wei Lu
    Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, TX 77030, USA
    Mol Genet Metab 86:412-6. 2005
    ..To identify genetic variants within the SKI gene and investigate the potential association between SKI polymorphisms and risk for orofacial defects, we initially re-sequenced the gene...
  30. ncbi request reprint Mouse Fkbp8 activity is required to inhibit cell death and establish dorso-ventral patterning in the posterior neural tube
    Rebecca Lee Yean Wong
    Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, The Texas A and M University System Health Science Center, 2121 W Holcombe Blvd, Houston, TX 77030, USA
    Hum Mol Genet 17:587-601. 2008
    ..The mutant Fkbp8 allele is a new experimental model which will be useful in dissecting the pathogenesis of spinal NTDs, and enhance our understanding of the etiology of human NTDs...
  31. ncbi request reprint Homocysteine remethylation enzyme polymorphisms and increased risks for neural tube defects
    Huiping Zhu
    Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, TX 77030, USA
    Mol Genet Metab 78:216-21. 2003
    ..These results did not appear to be influenced by maternal periconceptional folic acid intake. However,the sample size of this study was limited, and a larger population study is needed to pursue these initial observations...
  32. pmc Association between CFL1 gene polymorphisms and spina bifida risk in a California population
    Huiping Zhu
    Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, Texas 77030, USA
    BMC Med Genet 8:12. 2007
    ..Such alterations may be associated with an increased risk for neural tube defects (NTDs)...
  33. pmc Planar cell polarity pathway genes and risk for spina bifida
    Shu Wen
    Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 152:299-304. 2010
    ..01. In conclusion, our results, though largely negative, suggest that the PRICKLE2 gene may potentially modify the risk of spina bifida and deserves further investigation...
  34. pmc Nicotinamide N-methyl transferase (NNMT) gene polymorphisms and risk for spina bifida
    Wei Lu
    Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University Health Science Center, Houston, Texas 77030, USA
    Birth Defects Res A Clin Mol Teratol 82:670-5. 2008
    ..The enzyme nicotinamide N-methyl transferase (NNMT) was identified in a genome-wide linkage scan as being an important regulator of homocysteine homeostasis in a Spanish population, making it an interesting candidate gene for NTDs...
  35. ncbi request reprint Screening for novel PAX3 polymorphisms and risks of spina bifida
    Wei Lu
    Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, Texas 77030, and Children s Hospital Oakland Research Institute, CA, USA
    Birth Defects Res A Clin Mol Teratol 79:45-9. 2007
    ..Mutations in the murine homologue, pax3, are responsible for the phenotype of splotch mice, in which nullizygotes are 100% penetrant for NTDs...
  36. pmc Genes encoding catalytic subunits of protein kinase A and risk of spina bifida
    Huiping Zhu
    Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, Texas
    Birth Defects Res A Clin Mol Teratol 73:591-6. 2005
    ..We hypothesized that sequence variations in human genes encoding the catalytic subunits may alter the PKA activity and similarly increase the risk of spina bifida...
  37. ncbi request reprint Apolipoprotein E and apolipoprotein B genotypes and risk for spina bifida
    Kelly A Volcik
    Institute of BioScience and Technology, Texas A and M University System Health Science Center, Houston, Texas 77030, USA
    Teratology 66:257-9. 2002
    ..The purpose of our study was to explore the possible association between infant genetic variations in the apoE and apoB genes and spina bifida (SB) risk...
  38. ncbi request reprint Teratogenicity of valproate conjugates with anticonvulsant activity in mice
    Ofer Spiegelstein
    Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, TX 77030, USA
    Epilepsy Res 57:145-52. 2003
    ..Additional studies are needed to fully define and understand the structure-teratogenicity relationships of VPA analogues...
  39. ncbi request reprint Investigations into the etiology of neural tube defects
    Robert M Cabrera
    Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, Texas 77030, USA
    Birth Defects Res C Embryo Today 72:330-44. 2004
    ..The composite of these factors remains fragmented; the aim of this review is to provide the reader with a summary of sentinel and current works in the body of literature addressing NTD disease etiology...
  40. pmc Teratogenic effects of antiepileptic drugs
    Denise S Hill
    Texas A and M Health Science Center, Houston, TX 77030, USA
    Expert Rev Neurother 10:943-59. 2010
    ..There is no evidence to suggest that additional folic acid supplementation ameliorates the increased risk of congenital malformations conferred by in utero AED exposure...
  41. ncbi request reprint 3-Methylcholanthrene and other aryl hydrocarbon receptor agonists directly activate estrogen receptor alpha
    Maen Abdelrahim
    Institute of Biosciences and Technology, Texas A and M University Health Science Center, Houston, Texas, USA
    Cancer Res 66:2459-67. 2006
    ..These results show that PCB and 3MC directly activate ER alpha-dependent transactivation and extend the number of ligands that activate both AhR and ER alpha...
  42. doi request reprint Arsenate-induced maternal glucose intolerance and neural tube defects in a mouse model
    Denise S Hill
    Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, 77030, USA
    Toxicol Appl Pharmacol 239:29-36. 2009
    ..Periconceptional hyperglycemia is a significant risk factor for neural tube defects (NTDs), the second most common structural birth defect. A suspected teratogen, arsenic (As) induces NTDs in laboratory animals...
  43. ncbi request reprint Promoter haplotype combinations for the human PDGFRA gene are associated with risk of neural tube defects
    Huiping Zhu
    Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, TX 77030, USA
    Mol Genet Metab 81:127-32. 2004
    ..5, 95%=0.8-3.1). Our study suggests that the reduced transcriptional activity of PDGFRA gene could increase the risk of having an NTD-affected pregnancy...
  44. ncbi request reprint Spontaneous neural tube defects in splotch mice supplemented with selected micronutrients
    Bogdan J Wlodarczyk
    Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, TX 77030, USA
    Toxicol Appl Pharmacol 213:55-63. 2006
    ..When the folate supplementation dose was increased to 200 mg/kg in the diet, the incidence of rescued splotch homozygotes reached 30%; however, this was accompanied by six-fold increased resorption rate...
  45. ncbi request reprint Gene-nutrient interactions: importance of folic acid and vitamin B12 during early embryogenesis
    Richard H Finnell
    Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, TX 77030, USA
    Food Nutr Bull 29:S86-98; discussion S99-100. 2008
    ..While not exhaustive, our goal was to provide an overview of important gene-nutrient interactions, focusing on folic acid and vitamin B12, to serve as a framework for understanding the multiple roles they play in early embryogenesis...
  46. doi request reprint A cannabinoid analogue of Delta9-tetrahydrocannabinol disrupts neural development in chick
    DELPHINE PSYCHOYOS
    Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M Health Science Center, Houston, Texas 77030, USA
    Birth Defects Res B Dev Reprod Toxicol 83:477-88. 2008
    ....
  47. ncbi request reprint Potent anticonvulsant urea derivatives of constitutional isomers of valproic acid
    Jakob Avi Shimshoni
    Department of Pharmaceutics and Department of Medicinal Chemistry and Natural Products, School of Pharmacy, Faculty of Medicine, and The David R Bloom Centre for Pharmacy, The Hebrew University of Jerusalem, Jerusalem, Israel
    J Med Chem 50:6419-27. 2007
    ..The broad spectrum of anticonvulsant activity of the urea derivatives coupled with their wide safety margin make them potential candidates to become new, potent AEDs...
  48. doi request reprint Embryonic development in the reduced folate carrier knockout mouse is modulated by maternal folate supplementation
    Janee Gelineau-van Waes
    Department of Genetics, Cell Biology and Anatomy, University of Nebraska Medical Center, Omaha, Nebraska 68198 5455, USA
    Birth Defects Res A Clin Mol Teratol 82:494-507. 2008
    ..In this study, embryonic/fetal development is characterized in an RFC1 knockout mouse model in which pregnant dams receive different levels of folate supplementation...
  49. doi request reprint Reproductive consequences of oral arsenate exposure during pregnancy in a mouse model
    Denise S Hill
    Interdisciplinary Faculty of Toxicology, Texas A and M University, College Station, Texas, USA
    Birth Defects Res B Dev Reprod Toxicol 83:40-7. 2008
    ..6/1,000 births worldwide, and 1/1,000 births in the United States. Of the many environmental agents suspected of being teratogenic, arsenic (As) is capable of inducing NTDs in laboratory animals...
  50. ncbi request reprint Fetal and maternal MTHFR C677T genotype, maternal folate intake and the risk of nonsyndromic oral clefts
    Cécile Chevrier
    Inserm U625, GERHM, Campus de Beaulieu, Univ Rennes I, Rennes, France
    Am J Med Genet A 143:248-57. 2007
    ..The modest sample size limits this study, which nonetheless provides new estimate of the possible impact of dietary folate intake and MTHFR polymorphism on oral clefts...
  51. ncbi request reprint Infant C677T MTHFR polymorphism and severe mental retardation
    Gary M Shaw
    California Birth Defects Monitoring Program, Berkeley, California 94710, USA
    Birth Defects Res A Clin Mol Teratol 79:24-6. 2007
    ..We investigated whether infants with homozygous genotype TT of the MTHFR gene were at increased risk of severe mental retardation...
  52. doi request reprint Anticonvulsant profile and teratogenicity of 3,3-dimethylbutanoylurea: a potential for a second generation drug to valproic acid
    Jakob Avi Shimshoni
    Department of Pharmaceutics, School of Pharmacy, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel
    Epilepsia 49:1202-12. 2008
    ....
  53. ncbi request reprint Risks of human limb deficiency anomalies associated with 29 SNPs of genes involved in homocysteine metabolism, coagulation, cell-cell interactions, inflammatory response, and blood pressure regulation
    Suzan L Carmichael
    California Birth Defects Monitoring Program, March of Dimes Birth Defects Foundation, Berkeley, California 94710, USA
    Am J Med Genet A 140:2433-40. 2006
    ..These results suggest involvement of genetic variation of biologically relevant candidate genes, and gene-environment interaction, for some limb anomalies whose pathogenesis may be related to altered vascular tone or integrity...
  54. ncbi request reprint Anticonvulsant activity, neural tube defect induction, mutagenicity and pharmacokinetics of a new potent antiepileptic drug, N-methoxy-2,2,3,3-tetramethylcyclopropane carboxamide
    Eyal Sobol
    Department of Pharmaceutics, School of Pharmacy, The Hebrew University of Jerusalem, Jerusalem, Israel
    Epilepsy Res 73:75-84. 2007
    ..These results support further studies to fully characterize the therapeutic potential of OM-TMCD...
  55. ncbi request reprint Mapping a chromosomal locus for valproic acid-induced exencephaly in mice
    Yunxia Wang Lundberg
    Genetics Department, Boys Town National Research Hospital, Omaha, Nebraska 68131, USA
    Mamm Genome 15:361-9. 2004
    ..These results suggest a major chromosomal locus associated with the sensitivity to VPA-induced exencephaly in mice...
  56. ncbi request reprint Maternal smoking and the risk of orofacial clefts: Susceptibility with NAT1 and NAT2 polymorphisms
    Edward J Lammer
    Children s Hospital Research Institute, 5700 Martin Luther King, Jr Way, Oakland, CA 94609, USA
    Epidemiology 15:150-6. 2004
    ..We investigated whether polymorphic variants of fetal acetyl-N-transferases 1 (NAT1) and 2 (NAT2) interact with maternal cigarette smoking during early pregnancy to increase the risk of delivering an infant with an orofacial cleft...
  57. ncbi request reprint Limb deficiency defects, MSX1, and exposure to tobacco smoke
    Suzan L Carmichael
    March of Dimes Birth Defect Foundation California Department of Health Services, California Birth Defects Monitoring Program, Oakland, California 94710, USA
    Am J Med Genet A 125:285-9. 2004
    ..This finding contrasts with results of a previous study, which provided initial evidence for such an interaction. Several important methodological differences may have contributed to the differences in findings between the two studies...
  58. ncbi request reprint Genetic variation of infant reduced folate carrier (A80G) and risk of orofacial and conotruncal heart defects
    Gary M Shaw
    March of Dimes Birth Defects Foundation, California Birth Defects Monitoring Program, Oakland, CA, USA
    Am J Epidemiol 158:747-52. 2003
    ..Thus, this study found modest evidence for a gene-nutrient interaction between infant RFC1 genotype and periconceptional intake of vitamins on the risk of conotruncal defects...
  59. ncbi request reprint Genetic dissection of hyperthermia-induced neural tube defects in mice
    Yunxia Wang Lundberg
    Boys Town National Research Hospital, Genetics Department, Omaha, Nebraska 68131, USA
    Birth Defects Res A Clin Mol Teratol 67:409-13. 2003
    ..Maternal hyperthermia has been shown to induce neural tube defects (NTD) in humans and in experimental animal systems. We report the first genetic dissection of maternal hyperthermia-induced NTD in mice...
  60. pmc Anticonvulsant activity, teratogenicity and pharmacokinetics of novel valproyltaurinamide derivatives in mice
    Nina Isoherranen
    Department of Pharmaceutics, School of Pharmacy, Hebrew University of Jerusalem, Israel
    Br J Pharmacol 139:755-64. 2003
    ....
  61. ncbi request reprint Reduced folate carrier polymorphism (80A-->G) and neural tube defects
    Patrizia De Marco
    Laboratorio del Servizio di Neurochirugia, Istituto G Gaslini, Genova, Italy
    Eur J Hum Genet 11:245-52. 2003
    ..3%; mothers 11.5%) was increased compared with controls (1.6%). Altogether, our findings support the hypothesis that RFC-1 A80G variant may contribute to NTD susceptibility in the Italian population...
  62. ncbi request reprint Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population
    Patrizia De Marco
    Istituto G Gaslini, Largo G Gaslini, 5 16148 Genova, Italy
    J Hum Genet 47:319-24. 2002
    ..This study shows that the MTHFRA1298C polymorphism is a genetic determinant for NTD risk in Italy. No association between the MSA2756G and NTD susceptibility was found...
  63. ncbi request reprint Maternal periconceptional vitamin use, genetic variation of infant reduced folate carrier (A80G), and risk of spina bifida
    Gary M Shaw
    March of Dimes Birth Defects Foundation, California Birth Defects Monitoring Program, Oakland, California 94606, USA
    Am J Med Genet 108:1-6. 2002
    ....
  64. ncbi request reprint Periconceptional multivitamin intake during early pregnancy, genetic variation of acetyl-N-transferase 1 (NAT1), and risk for orofacial clefts
    Edward J Lammer
    Children s Hospital Research Institute, Oakland, California 94609, USA
    Birth Defects Res A Clin Mol Teratol 70:846-52. 2004
    ....
  65. ncbi request reprint Renal tubular reabsorption of folate mediated by folate binding protein 1
    Henrik Birn
    Department of Cell Biology, Institute of Anatomy, University of Aarhus, University Park, Building 234, DK 8000 Aarhus C, Denmark
    J Am Soc Nephrol 16:608-15. 2005
    ....
  66. ncbi request reprint Folate transport gene inactivation in mice increases sensitivity to colon carcinogenesis
    David W L Ma
    Molecular and Cell Biology Section, Faculty of Nutrition, Texas A and M University, Kleberg Center, College Station, TX 77843 2471, USA
    Cancer Res 65:887-97. 2005
    ..In conclusion, Folbp1 and RFC1 genetically modified mice exhibit distinct changes in colonocyte phenotype and therefore have utility as models to examine the role of folate homeostasis in colon cancer development...
  67. ncbi request reprint Genetic and nutritional deficiencies in folate metabolism influence tumorigenicity in Apcmin/+ mice
    Andrea K Lawrance
    Department of Human Genetics, McGill University Montreal Children s Hospital Research Institute, Montreal, Quebec, Canada
    J Nutr Biochem 18:305-12. 2007
    ....
  68. pmc Neural tube defects and folate: case far from closed
    Henk J Blom
    Laboratory of Pediatrics and Neurology, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Post Office Box 9101, 6500 HB Nijmegen, The Netherlands
    Nat Rev Neurosci 7:724-31. 2006
    ..Exploring the methylation hypothesis could direct us towards additional strategies to prevent neural tube defects...
  69. pmc Phosphatidylethanolamine N-methyltransferase (PEMT) gene polymorphisms and risk of spina bifida
    Jing Zhang
    Am J Med Genet A 140:785-9. 2006
  70. ncbi request reprint Myo-inositol enhances teratogenicity of valproic acid in the mouse
    Valentina Massa
    Department of Biology, University of Milan, Milan, Italy
    Birth Defects Res A Clin Mol Teratol 76:200-4. 2006
    ..Furthermore, INO has been shown to rescue NTDs in the curly tail mouse. The aim of this study was to investigate the interactions of VPA and INO in the developing embryo...
  71. ncbi request reprint Endothelial nitric oxide synthase (NOS3) genetic variants, maternal smoking, vitamin use, and risk of human orofacial clefts
    Gary M Shaw
    California Birth Defects Monitoring Program, March of Dimes Birth Defects Foundation, Berkeley, CA 94710, USA
    Am J Epidemiol 162:1207-14. 2005
    ..6, 95% CI: 2.1, 10.2; for 894T, OR = 4.4, 95% CI: 1.8, 10.7). No similar patterns were observed for risk of cleft palate...
  72. ncbi request reprint Valproic acid-induced skeletal malformations: associated gene expression cascades
    Valentina Massa
    Department of Biology, University of Milan, Milan, Italy
    Pharmacogenet Genomics 15:787-800. 2005
    ..In this study the potential alterations in somitic tissue gene expression relative to the development of observed axial skeletal defects were examined...
  73. ncbi request reprint Risks of human conotruncal heart defects associated with 32 single nucleotide polymorphisms of selected cardiovascular disease-related genes
    Gary M Shaw
    March of Dimes Birth Defects Foundation, California Birth Defects Monitoring Program, Berkeley 94710, USA
    Am J Med Genet A 138:21-6. 2005
    ..In particular, NPPA appears to be a good candidate gene for conotruncal defects and warrants further investigation...
  74. ncbi request reprint Genetic variation of infant reduced folate carrier (A80G) and risk of orofacial defects and congenital heart defects in China
    Lijun Pei
    Institute of Reproductive and Child Health, Peking University, China
    Ann Epidemiol 16:352-6. 2006
    ....
  75. ncbi request reprint Reduced folate carrier gene is a risk factor for neural tube defects in a Chinese population
    Lijun Pei
    Institute of Reproductive and Child Health, Peking University Health Science Center, No 38 Xueyuan Road, Haidian District, Beijing 100083, China
    Birth Defects Res A Clin Mol Teratol 73:430-3. 2005
    ..At present, the mechanism by which folic acid exerts its beneficial effect remains unknown. Folate transporter genes, including the reduced folate carrier gene (RFC1), have been proposed as NTD risk factors...
  76. ncbi request reprint Effects of folate supplementation on the risk of spontaneous and induced neural tube defects in Splotch mice
    Lisa A Gefrides
    Department of Veterinary Anatomy and Public Heath, Texas A and M University, College Station, Texas 77843 4458, USA
    Teratology 65:63-9. 2002
    ..Therefore, the murine mutant Splotch, which has a high incidence of spontaneous NTDs, along with the inbred strains SWV and LM/Bc, were used to investigate the relationship between folate and NTDs...

Research Grants7

  1. FOLATE RECEPTORS IN CRANIOFACIAL MALFORMATIONS
    Richard Finnell; Fiscal Year: 2002
    ..abstract_text> ..
  2. GENETIC REGULATION OF FOLATE RESPONSIVE BIRTH DEFECTS
    Richard Finnell; Fiscal Year: 2009
    ..The hypothesis that the Folbp1 receptor functions in complexes with other proteins within the lipid raft of the cell membrane to act as a signaling molecule challenges existing preconceptions concerning the function of this protein. ..