neural tube defects

Summary

Summary: Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy generally occurring between days 18-29 of gestation. Ectodermal and mesodermal malformations (mainly involving the skull and vertebrae) may occur as a result of defects of neural tube closure. (From Joynt, Clinical Neurology, 1992, Ch55, pp31-41)

Top Publications

  1. ncbi Reduction in neural-tube defects after folic acid fortification in Canada
    Philippe De Wals
    Laval University, Quebec, Canada
    N Engl J Med 357:135-42. 2007
  2. pmc Genetic variants in the folate pathway and the risk of neural tube defects: a meta-analysis of the published literature
    Ti Zhang
    Department of Epidemiology and Biostatistics and MOE Key Lab of Environment and Health, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China
    PLoS ONE 8:e59570. 2013
  3. ncbi Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis
    Alexis Robinson
    UCL Institute of Child Health, London WC1N 1EH, United Kingdom
    Hum Mutat 33:440-7. 2012
  4. pmc The continuing challenge of understanding, preventing, and treating neural tube defects
    John B Wallingford
    Howard Hughes Medical Institute, The University of Texas at Austin, Austin, TX 78712, USA
    Science 339:1222002. 2013
  5. pmc A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?
    N M van der Put
    Department of Pediatrics, University Hospital Nijmegen, Nijmegen, The Netherlands
    Am J Hum Genet 62:1044-51. 1998
  6. ncbi Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans
    Jung Hwa Seo
    Department of Medicine, McGill University, Montreal, Quebec, Canada H3A 2B4
    Hum Mol Genet 20:4324-33. 2011
  7. pmc FZD6 is a novel gene for human neural tube defects
    Patrizia De Marco
    Neurosurgery Department, G Gaslini Institute, Genova, Italy
    Hum Mutat 33:384-90. 2012
  8. pmc Genetics and development of neural tube defects
    Andrew J Copp
    Neural Development Unit, UCL Institute of Child Health, London WC1N 1EH, UK
    J Pathol 220:217-30. 2010
  9. ncbi Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis
    Redouane Allache
    Department of Obstetrics and Gynecology, CHU Sainte Justine Research Center and University of Montreal, Montreal, Canada
    Birth Defects Res A Clin Mol Teratol 94:176-81. 2012
  10. pmc Planar cell polarity signaling: from fly development to human disease
    Matias Simons
    Mount Sinai School of Medicine, Department of Developmental and Regenerative Biology, New York, NY 10029, USA
    Annu Rev Genet 42:517-40. 2008

Detail Information

Publications351 found, 100 shown here

  1. ncbi Reduction in neural-tube defects after folic acid fortification in Canada
    Philippe De Wals
    Laval University, Quebec, Canada
    N Engl J Med 357:135-42. 2007
    ..We assessed changes in the prevalence of neural-tube defects in Canada before and after food fortification with folic acid was implemented...
  2. pmc Genetic variants in the folate pathway and the risk of neural tube defects: a meta-analysis of the published literature
    Ti Zhang
    Department of Epidemiology and Biostatistics and MOE Key Lab of Environment and Health, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China
    PLoS ONE 8:e59570. 2013
    b>Neural Tube Defects (NTDs) are among the most prevalent and most severe congenital malformations worldwide. Polymorphisms in key genes involving the folate pathway have been reported to be associated with the risk of NTDs...
  3. ncbi Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis
    Alexis Robinson
    UCL Institute of Child Health, London WC1N 1EH, United Kingdom
    Hum Mutat 33:440-7. 2012
    ..We conclude that missense variants in CELSR1 and SCRIB may represent a cause of CRN in humans, as in mice, with defective PCP protein trafficking to the plasma membrane a likely pathogenic mechanism...
  4. pmc The continuing challenge of understanding, preventing, and treating neural tube defects
    John B Wallingford
    Howard Hughes Medical Institute, The University of Texas at Austin, Austin, TX 78712, USA
    Science 339:1222002. 2013
    ..b>Neural tube defects (NTDs) arise from a complex combination of genetic and environmental interactions...
  5. pmc A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?
    N M van der Put
    Department of Pediatrics, University Hospital Nijmegen, Nijmegen, The Netherlands
    Am J Hum Genet 62:1044-51. 1998
    ....
  6. ncbi Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans
    Jung Hwa Seo
    Department of Medicine, McGill University, Montreal, Quebec, Canada H3A 2B4
    Hum Mol Genet 20:4324-33. 2011
    b>Neural tube defects (NTDs) are a heterogeneous group of common severe congenital anomalies which affect 1-2 infants per 1000 births. Most genetic and/or environmental factors that contribute to the pathogenesis of human NTDs are unknown...
  7. pmc FZD6 is a novel gene for human neural tube defects
    Patrizia De Marco
    Neurosurgery Department, G Gaslini Institute, Genova, Italy
    Hum Mutat 33:384-90. 2012
    b>Neural tube defects (NTDs) are severe malformations of the central nervous system, affecting 1 of 1,000 live births...
  8. pmc Genetics and development of neural tube defects
    Andrew J Copp
    Neural Development Unit, UCL Institute of Child Health, London WC1N 1EH, UK
    J Pathol 220:217-30. 2010
    Congenital defects of neural tube closure (neural tube defects; NTDs) are among the commonest and most severe disorders of the fetus and newborn...
  9. ncbi Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis
    Redouane Allache
    Department of Obstetrics and Gynecology, CHU Sainte Justine Research Center and University of Montreal, Montreal, Canada
    Birth Defects Res A Clin Mol Teratol 94:176-81. 2012
    b>Neural tube defects (NTDs), including anencephaly and spina bifida, have a complex etiology. Defects in the planar cell polarity (PCP) signaling pathway have been strongly associated with NTDs in animal models and human cohorts...
  10. pmc Planar cell polarity signaling: from fly development to human disease
    Matias Simons
    Mount Sinai School of Medicine, Department of Developmental and Regenerative Biology, New York, NY 10029, USA
    Annu Rev Genet 42:517-40. 2008
    ..This review discusses new developments in the molecular understanding of PCP establishment in Drosophila and vertebrates; these developments are integrated with new evidence that links PCP signaling to human disease...
  11. ncbi Mutations in VANGL1 associated with neural-tube defects
    Zoha Kibar
    Department of Biochemistry, McGill University, Montreal, QC, Canada
    N Engl J Med 356:1432-7. 2007
    ..In a protein-protein interaction assay V239I abolished interaction of VANGL1 protein with its binding partners, disheveled-1, -2, and -3. These findings implicate VANGL1 as a risk factor in human neural-tube defects...
  12. pmc Sec24b selectively sorts Vangl2 to regulate planar cell polarity during neural tube closure
    Janna Merte
    The Solomon H Snyder Department of Neuroscience and Howard Hughes Medical Institute, Johns Hopkins University, Baltimore, MD 21205, USA
    Nat Cell Biol 12:41-6; sup pp 1-8. 2010
    ..Thus, during COPII vesicle formation, Sec24b shows cargo specificity for a core PCP component, Vangl2, of which proper ER-to-Golgi transport is essential for the establishment of PCP, convergent extension and closure of the neural tube...
  13. ncbi Folate and human reproduction
    Tsunenobu Tamura
    Department of Nutrition Sciences, University of Alabama at Birmingham, AL 35294, USA
    Am J Clin Nutr 83:993-1016. 2006
    ..and folic acid food fortification emerged when they were proven to prevent the occurrence of neural tube defects. These distinctively different uses of folic acid may well be ranked among the most significant public ..
  14. ncbi Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates
    Alison J Ross
    Molecular Medicine Unit, Institute of Child Health, University College London, WC1N 1EH, UK
    Nat Genet 37:1135-40. 2005
    ..a disorder associated with ciliary dysfunction, share phenotypes with PCP mutants including open eyelids, neural tube defects and disrupted cochlear stereociliary bundles...
  15. pmc Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans
    Ayumi Narisawa
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Hum Mol Genet 21:1496-503. 2012
    b>Neural tube defects (NTDs), including spina bifida and anencephaly, are common birth defects of the central nervous system...
  16. pmc Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects
    Ciprian M Bosoi
    Department of Obstetrics and Gynecology, CHU Sainte Justine Research Center and University of Montreal, Montreal, Canada
    Hum Mutat 32:1371-5. 2011
    ..extension (CE) during gastrulation and neural tube closure, and has been implicated in the pathogenesis of neural tube defects (NTDs) in animal models and human cohorts...
  17. pmc Neurulation in the cranial region--normal and abnormal
    Andrew J Copp
    Neural Development Unit, Institute of Child Health, University College London, UK
    J Anat 207:623-35. 2005
    ..Many mutant and gene-targeted mouse strains develop cranial neural tube defects, and analysis of the underlying molecular defects identifies several requirements for normal dorsolateral ..
  18. ncbi A consideration of the evidence that genetic defects in planar cell polarity contribute to the etiology of human neural tube defects
    Diana M Juriloff
    Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
    Birth Defects Res A Clin Mol Teratol 94:824-40. 2012
    ..We recommend that future research should explore other types of PCP gene variant such as regulatory mutations and low frequency (1 to 5%) deleterious polymorphisms...
  19. pmc Genetics of human neural tube defects
    Nicholas D E Greene
    Neural Development Unit, UCL Institute of Child Health, London, UK
    Hum Mol Genet 18:R113-29. 2009
    b>Neural tube defects (NTDs) are common, severe congenital malformations whose causation involves multiple genes and environmental factors...
  20. ncbi twist is required in head mesenchyme for cranial neural tube morphogenesis
    Z F Chen
    Department of Molecular Genetics, University of Texas, M D Anderson Cancer Center, Houston 77030, USA
    Genes Dev 9:686-99. 1995
    ..These results suggest that twist regulates the cellular phenotype and behavior of head mesenchyme cells that are essential for the subsequent formation of the cranial neural tube...
  21. ncbi The genetic basis of mammalian neurulation
    Andrew J Copp
    Neural Development Unit, Institute of Child Health, University College London, London WC1N 1EH, UK
    Nat Rev Genet 4:784-93. 2003
    ..Mutant mice also offer an opportunity to unravel the mechanisms by which folic acid prevents neural tube defects, and to develop new therapies for folate-resistant defects.
  22. ncbi Mouse models for neural tube closure defects
    D M Juriloff
    Department of Medical Genetics, University of British Columbia, 6174 University Boulevard, Vancouver, British Columbia, Canada
    Hum Mol Genet 9:993-1000. 2000
    ....
  23. ncbi Race-ethnicity differences in folic acid intake in women of childbearing age in the United States after folic acid fortification: findings from the National Health and Nutrition Examination Survey, 2001-2002
    Quan He Yang
    Division of Birth Defects and Developmental Disabilities, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA 30333, USA
    Am J Clin Nutr 85:1409-16. 2007
    b>Neural tube defects are serious birth defects of the brain and spinal cord. Up to 70% of neural tube defects can be prevented by the consumption of folic acid by women before and early during pregnancy.
  24. ncbi Shroom, a PDZ domain-containing actin-binding protein, is required for neural tube morphogenesis in mice
    J D Hildebrand
    Program in Developmental Biology and Division of Basic Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109 1024, USA
    Cell 99:485-97. 1999
    ..Finally, cytoskeletal polarity within the neuroepithelium is perturbed in mutant embryos. In concert, these observations suggest that Shrm is a critical determinant of the cellular architecture required for proper neurulation...
  25. ncbi Disruption of scribble (Scrb1) causes severe neural tube defects in the circletail mouse
    Jennifer N Murdoch
    Neural Development Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK
    Hum Mol Genet 12:87-98. 2003
    ..The identification of the Crc gene further defines the nature of the genetic pathway required for the initiation of neural tube closure and provides an important new candidate that may be implicated in the aetiology of human NTDs...
  26. pmc Folic acid food fortification-its history, effect, concerns, and future directions
    Krista S Crider
    The Division of Birth Defects and Developmental Disabilities, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA 30033, USA
    Nutrients 3:370-84. 2011
    ..This review highlights the history, effect, concerns, and future directions of folic acid food fortification programs...
  27. ncbi Folate and neural tube defects
    Roy M Pitkin
    UCLA School of Medicine, Los Angeles, CA, USA
    Am J Clin Nutr 85:285S-288S. 2007
    A protective effect of folate against the development of neural tube defects (NTDs), specifically, anencephaly and spina bifida, is now well recognized, having been established by a chain of clinical research studies over the past half ..
  28. ncbi Severe neural tube defects in the loop-tail mouse result from mutation of Lpp1, a novel gene involved in floor plate specification
    J N Murdoch
    Neural Development Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK
    Hum Mol Genet 10:2593-601. 2001
    b>Neural tube defects (NTD) are clinically important congenital malformations whose molecular mechanisms are poorly understood...
  29. 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
    ..been the use of periconceptional folic acid supplements, which prevents approximately 50-75% of cases of neural tube defects. However, the mechanism underlying the beneficial effects of folic acid is far from clear...
  30. ncbi Relation between hypomethylation of long interspersed nucleotide elements and risk of neural tube defects
    Li Wang
    Capital Institute of Pediatrics, Beijing, China
    Am J Clin Nutr 91:1359-67. 2010
    Impaired one-carbon metabolism is thought to be associated with the risk of neural tube defects (NTDs); however, the role of methylation in NTDs remains unclear...
  31. ncbi An update to the list of mouse mutants with neural tube closure defects and advances toward a complete genetic perspective of neural tube closure
    Muriel J Harris
    Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
    Birth Defects Res A Clin Mol Teratol 88:653-69. 2010
    The number of mouse mutants and strains with neural tube defects (NTDs) now exceeds 240, including 205 representing specific genes, 30 for unidentified genes, and 9 multifactorial strains...
  32. ncbi Neural tube defects and impaired neural progenitor cell proliferation in Gbeta1-deficient mice
    Hiroaki Okae
    Center for Experimental Medicine and Systems Biology, Institute of Medical Science, University of Tokyo, Tokyo 108 8639, Japan
    Dev Dyn 239:1089-101. 2010
    ..About 40% Gbeta1(-/-) embryos developed neural tube defects (NTDs) and abnormal actin organization was observed in the basal side of neuroepithelium...
  33. pmc Neural tube defects: recent advances, unsolved questions, and controversies
    Andrew J Copp
    Neural Development Unit and Newlife Birth Defects Research Centre, UCL Institute of Child Health, London, UK
    Lancet Neurol 12:799-810. 2013
    b>Neural tube defects are severe congenital malformations affecting around one in every 1000 pregnancies...
  34. ncbi Neural tube closure requires Dishevelled-dependent convergent extension of the midline
    John B Wallingford
    Department of Molecular and Cell Biology, 401 Barker Hall, University of California, Berkeley, CA 94720, USA
    Development 129:5815-25. 2002
    ..Together, these data demonstrate that PCP-mediated convergent extension movements are crucial to proper vertebrate neurulation...
  35. pmc Folic acid supplementation can adversely affect murine neural tube closure and embryonic survival
    Amber Marean
    HHMI and Department of Pediatrics, Programs in Molecular Biology, University of Colorado AnschutzMedical Campus and Children s Hospital Colorado, Aurora, CO 80045, USA
    Hum Mol Genet 20:3678-83. 2011
    b>Neural tube defects (NTDs), a common birth defect in humans, result from the failure of the embryonic neural tube (NT) to close properly...
  36. pmc Maternal occupational exposure to organic solvents during early pregnancy and risks of neural tube defects and orofacial clefts
    Tania A Desrosiers
    Department of Epidemiology, Campus Box 7435, University of North Carolina, Chapel Hill, NC 27599, USA
    Occup Environ Med 69:493-9. 2012
    ..Prevention Study, the authors examined the relation between maternal occupational exposure to aromatic solvents, chlorinated solvents and Stoddard solvent during early pregnancy and neural tube defects (NTDs) and orofacial clefts (OFCs).
  37. pmc 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...
  38. pmc Contribution of VANGL2 mutations to isolated neural tube defects
    Z Kibar
    Department of Obstetrics and Gynecology, CHU Sainte Justine Research Center and University of Montreal, Montreal, Quebec, Canada
    Clin Genet 80:76-82. 2011
    Vangl2 was identified as the gene defective in the Looptail (Lp) mouse model for neural tube defects (NTDs)...
  39. ncbi Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouse
    John A Curtin
    GlaxoSmithKline Pharmaceuticals, New Frontiers Science Park, Harlow, Essex, CM19 5AW, United Kingdom
    Curr Biol 13:1129-33. 2003
    We identified two novel mouse mutants with abnormal head-shaking behavior and neural tube defects during the course of independent ENU mutagenesis experiments...
  40. ncbi Regulation of planar cell polarity by Smurf ubiquitin ligases
    Masahiro Narimatsu
    Center for Systems Biology, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, 600 University Avenue, Toronto, ON, Canada, M5G 1X5
    Cell 137:295-307. 2009
    ..Our work thus uncovers ubiquitin ligases in a mechanistic link between noncanonical Wnt signaling and PCP/CE...
  41. ncbi Inositol- and folate-resistant neural tube defects in mice lacking the epithelial-specific factor Grhl-3
    Stephen B Ting
    Rotary Bone Marrow Research Laboratories, c o Royal Melbourne Hospital Post Office, Grattan Street, Parkville, Victoria, Australia 3050
    Nat Med 9:1513-9. 2003
    The neural tube defects (NTDs) spina bifida and anencephaly are widely prevalent severe birth defects...
  42. ncbi Mouse mutants with neural tube closure defects and their role in understanding human neural tube defects
    Muriel J Harris
    Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
    Birth Defects Res A Clin Mol Teratol 79:187-210. 2007
    ..The number of mouse mutants and strains with neural tube closure defects (NTDs) now exceeds 190, including 155 involving known genes, 33 with unidentified genes, and eight "multifactorial" strains...
  43. pmc Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defects
    Henk J Blom
    Metabolic Unit, Department of Clinical Chemistry, Institute for Cardiovascular Research ICaR VU, VU University Medical Centre, Amsterdam, The Netherlands
    J Inherit Metab Dis 34:75-81. 2011
    ..Finally, common diseases associated with elevated homocysteine are discussed with the focus on cardiovascular disease and neural tube defects.
  44. ncbi Vinculin knockout results in heart and brain defects during embryonic development
    W Xu
    The Burnham Institute, La Jolla, CA 92037, USA
    Development 125:327-37. 1998
    ....
  45. pmc Epidemiologic and genetic aspects of spina bifida and other neural tube defects
    Kit Sing Au
    Division of Medical Genetics, Department of Pediatrics, The University of Texas, Medical School at Houston, Houston, Texas 77030, USA
    Dev Disabil Res Rev 16:6-15. 2010
    The worldwide incidence of neural tube defects (NTDs) ranges from 1.0 to 10.0 per 1,000 births with almost equal frequencies between two major categories: anencephaly and spina bifida (SB)...
  46. ncbi Maternal hyperthermia and the risk for neural tube defects in offspring: systematic review and meta-analysis
    Myla E Moretti
    The Motherisk Program, The Hospital for Sick Children, Toronto, Canada
    Epidemiology 16:216-9. 2005
    In animals, excessive core body temperatures have been documented to cause malformations; neural tube defects (NTDs) are among the most frequently reported. In humans, data are inconclusive and often conflicting...
  47. ncbi Quantifying the effect of folic acid
    N J Wald
    Department of Environmental and Preventive Medicine, Wolfson Institute of Preventive Medicine, Barts, Charterhouse Square, London, UK
    Lancet 358:2069-73. 2001
    ..Folic acid is known to prevent neural-tube defects (NTDs) but the size of the effect for a given dose is unclear. We aimed to quantify such an effect...
  48. pmc Novel mutations in VANGL1 in neural tube defects
    Zoha Kibar
    CHU Sainte Justine Research Center, Department of Obstetrics and Gynecology, University of Montreal, Montreal, QC, Canada zoha kibar recherche ste justine qc ca
    Hum Mutat 30:E706-15. 2009
    b>Neural tube defects (NTDs) are severe congenital malformations caused by failure of the neural tube to close during neurulation. Their etiology is complex involving both environmental and genetic factors...
  49. ncbi Genetic basis of neural tube defects
    Alexander G Bassuk
    Department of Pediatrics, University of Iowa, Iowa City, IA, USA
    Semin Pediatr Neurol 16:101-10. 2009
    b>Neural tube defects (NTDs) represent a common group of severe congenital malformations of the central nervous system. They result from failure of neural tube closure during early embryonic life...
  50. ncbi Impact of folic acid fortification of the US food supply on the occurrence of neural tube defects
    M A Honein
    National Center on Birth Defects and Developmental Disabilities, Mailstop F 45, Centers for Disease Control and Prevention, 4770 Buford Hwy NE, Atlanta, GA 30341 3724, USA
    JAMA 285:2981-6. 2001
    ..microg of folic acid before conception and during early pregnancy dramatically reduces the occurrence of neural tube defects (NTDs)...
  51. pmc Neural tube defects and maternal folate intake among pregnancies conceived after folic acid fortification in the United States
    Bridget S Mosley
    Department of Pediatrics, University of Arkansas for Medical Sciences and Arkansas Children s Hospital Research Institute, Little Rock, Arkansas 72202, USA
    Am J Epidemiol 169:9-17. 2009
    Rates of neural tube defects have decreased since folic acid fortification of the food supply in the United States...
  52. ncbi Low erythrocyte folate status and polymorphic variation in folate-related genes are associated with risk of neural tube defect pregnancy
    Caroline L Relton
    Paediatric and Lifecourse Epidemiology Research Group, School of Clinical Medical Sciences Child Health, Newcastle University, Sir James Spence Institute, Royal Victoria Infirmary, Newcastle upon Tyne NE2 4LP, UK
    Mol Genet Metab 81:273-81. 2004
    ..001) despite assays being conducted many years after the index pregnancy (17.6+/-12.6 years). Erythrocyte folate levels were depressed in the presence of the MTHFR 677C >T variant...
  53. ncbi Pre-conceptional vitamin/folic acid supplementation 2007: the use of folic acid in combination with a multivitamin supplement for the prevention of neural tube defects and other congenital anomalies
    R Douglas Wilson
    Philadelphia PA, USA
    J Obstet Gynaecol Can 29:1003-26. 2007
    ..regarding the use of folic acid in combination with a multivitamin supplement for the prevention of neural tube defects and other congenital anomalies, so that physicians, midwives, nurses, and other health care workers can ..
  54. pmc Further evidence for a maternal genetic effect and a sex-influenced effect contributing to risk for human neural tube defects
    Kristen L Deak
    Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA
    Birth Defects Res A Clin Mol Teratol 82:662-9. 2008
    b>Neural tube defects (NTDs), including spina bifida and anencephaly, are the second most common birth defect with an incidence of 1/1000...
  55. ncbi Folic acid supplementation during pregnancy protects against lipopolysaccharide-induced neural tube defects in mice
    Mei Zhao
    Department of Toxicology, Anhui Medical University, Hefei 230032, China Anhui Provincial Key Laboratory of Population Health and Aristogenics, Hefei 230032, China School of Nursing, Anhui Medical University, Hefei 230032, China
    Toxicol Lett 224:201-8. 2014
    ..that physiological supply of folic acid during pregnancy prevents folic acid deficiency-related neural tube defects (NTDs). Previous studies showed that maternal lipopolysaccharide (LPS) exposure caused NTDs in rodents...
  56. ncbi Folic acid supplementation diminishes diabetes- and glucose-induced dysmorphogenesis in rat embryos in vivo and in vitro
    Parri Wentzel
    Department of Medical Cell Biology, Uppsala University, Biomedical Center, P O Box 571, SE 751 23 Uppsala, Sweden
    Diabetes 54:546-53. 2005
    Maternal administration of folic acid diminishes the risk of neural tube defects (NTDs) in offspring, but whether folic acid exerts a similar effect in diabetic pregnancy is unknown...
  57. pmc The emerging role of epigenetic mechanisms in the etiology of neural tube defects
    Nicholas D E Greene
    Neural Development Unit, Institute of Child Health, UCL, London, UK
    Epigenetics 6:875-83. 2011
    The molecular requirements for neural tube closure are complex. This is illustrated by the occurrence of neural tube defects (NTDs) in many genetic mouse mutants, which implicate a variety of genes, pathways and cellular functions...
  58. pmc Genome-wide association mapping in dogs enables identification of the homeobox gene, NKX2-8, as a genetic component of neural tube defects in humans
    Noa Safra
    Department of Population Health and Reproduction, School of Veterinary Medicine, University of California Davis, Davis, California, USA
    PLoS Genet 9:e1003646. 2013
    b>Neural tube defects (NTDs) is a general term for central nervous system malformations secondary to a failure of closure or development of the neural tube...
  59. ncbi Human neural tube defects: genetic causes and prevention
    Patrizia De Marco
    U O Neurochirurgia, Istituto G Gaslini, Genova, Italy
    Biofactors 37:261-8. 2011
    b>Neural tube defects (NTDs) are severe congenital malformations affecting 1-2 in 1,000 live births, whose etiology is multifactorial, involving environmental and genetic factors...
  60. pmc Roles of planar cell polarity pathways in the development of neural [correction of neutral] tube defects
    Gang Wu
    Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610041, China
    J Biomed Sci 18:66. 2011
    b>Neural tube defects (NTDs) are the second most common birth defect in humans...
  61. ncbi Tissue-specific distribution of aberrant DNA methylation associated with maternal low-folate status in human neural tube defects
    Huibo Chang
    Department of Biochemistry, Capital Institute of Pediatrics, Beijing 100020, China
    J Nutr Biochem 22:1172-7. 2011
    ..tissue-specific distribution of 5-methyl cytosine (5mC) in genomic DNA from human fetuses with or without neural tube defects (NTD) and examines whether low maternal serum folate is a possible correlate and/or risk factor for NTD...
  62. pmc Lamin b1 polymorphism influences morphology of the nuclear envelope, cell cycle progression, and risk of neural tube defects in mice
    Sandra C P de Castro
    Neural Development Unit, UCL Institute of Child Health, University College London, London, United Kingdom
    PLoS Genet 8:e1003059. 2012
    b>Neural tube defects (NTDs), including spina bifida and anencephaly, are common birth defects whose complex multigenic causation has hampered efforts to delineate their molecular basis...
  63. pmc Association of the maternal MTHFR C677T polymorphism with susceptibility to neural tube defects in offsprings: evidence from 25 case-control studies
    Lifeng Yan
    State Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing, China
    PLoS ONE 7:e41689. 2012
    ..In addition, it is a possible risk factor in neural tube defects (NTDs)...
  64. pmc Maternal exposure to ambient levels of benzene and neural tube defects among offspring: Texas, 1999-2004
    Philip J Lupo
    Division of Epidemiology, Human Genetics and Environmental Sciences, University of Texas School of Public Health, Houston 77030, USA
    Environ Health Perspect 119:397-402. 2011
    ..However, there have been no studies assessing the association between environmental levels of hazardous air pollutants, such as benzene, and neural tube defects (NTDs), a common and serious group of congenital malformations.
  65. ncbi Disruption of the csk gene, encoding a negative regulator of Src family tyrosine kinases, leads to neural tube defects and embryonic lethality in mice
    A Imamoto
    Howard Hughes Medical Institute, Baylor College of Medicine, Houston, Texas 77030
    Cell 73:1117-24. 1993
    ..These results demonstrate that Src family kinase activity is critically dependent on phosphorylation by Csk and suggest that the regulation of kinase activity may be essential during embryogenesis...
  66. pmc Nitrosatable drug exposure during early pregnancy and neural tube defects in offspring: National Birth Defects Prevention Study
    Jean D Brender
    School of Rural Public Health, Texas A and M Health Science Center, College Station, USA
    Am J Epidemiol 174:1286-95. 2011
    ..Various N-nitroso compounds have been associated with neural tube defects in animal models...
  67. pmc Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects
    Faith Pangilinan
    Molecular Pathogenesis Section, Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    BMC Med Genet 13:62. 2012
    b>Neural tube defects (NTDs) are common birth defects (~1 in 1000 pregnancies in the US and Europe) that have complex origins, including environmental and genetic factors...
  68. ncbi Diagnostic role of microRNA expression profile in the serum of pregnant women with fetuses with neural tube defects
    Hui Gu
    Key Laboratory of Health Ministry for Congenital Malformation, Shengjing Hospital, China Medical University, Shenyang, China
    J Neurochem 122:641-9. 2012
    ..However, the expression of miRNAs in the serum of pregnant women with fetuses with neural tube defects (NTDs) has not been characterized...
  69. pmc Live imaging of apoptosis in a novel transgenic mouse highlights its role in neural tube closure
    Yoshifumi Yamaguchi
    Department of Genetics, Graduate School of Pharmaceutical Sciences, The University of Tokyo, Bunkyo ku, Tokyo 113 0033, Japan
    J Cell Biol 195:1047-60. 2011
    ..Our results suggest that caspase-mediated cell removal facilitates NTC completion within a limited developmental window...
  70. ncbi Analysis of the MTHFR 1298A-->C and 677C-->T polymorphisms as risk factors for neural tube defects
    Anne Parle-McDermott
    Department of Biochemistry, Trinity College Dublin, Dublin, Ireland
    J Hum Genet 48:190-3. 2003
    The thermolabile variant (677TT) of methylenetetrahydrofolate reductase (MTHFR) is a known risk factor for neural tube defects (NTDs)...
  71. pmc Long-term effect of low-dose folic acid intake: potential effect of mandatory fortification on the prevention of neural tube defects
    Lisa A Houghton
    Departments of Human Nutrition and Preventive and Social Medicine, University of Otago, Dunedin, New Zealand
    Am J Clin Nutr 94:136-41. 2011
    ..Understanding the full effect of chronic low-dose folic acid is important in interpreting the effect of the mandatory folic acid fortification program in North America...
  72. ncbi Vitamin B12 insufficiency and the risk of fetal neural tube defects
    J G Ray
    Division of Obstetrical Medicine, Department of Medicine, Sunnybrook and Women s College Health Sciences Centre, University of Toronto, Toronto, Ontario, Canada
    QJM 96:289-95. 2003
    Although maternal folate insufficiency is a risk factor for fetal neural tube defects (NTDs), there is controversy about whether vitamin B12 (B12) insufficiency is also associated with an increased risk of NTDs.
  73. pmc Association of selected persistent organic pollutants in the placenta with the risk of neural tube defects
    Aiguo Ren
    Institute of Reproductive and Child Health and Ministry of Health Key Laboratory of Reproductive Health, Peking University Health Science Center, Beijing 100191, China
    Proc Natl Acad Sci U S A 108:12770-5. 2011
    ..study was performed to explore the association between placental levels of selected POPs and risks for neural tube defects (NTDs) in a Chinese population with a high prevalence of NTDs...
  74. ncbi Heart and head defects in mice lacking pairs of connexins
    Alexander M Simon
    Department of Physiology, University of Arizona, Tucson, AZ 85724, USA
    Dev Biol 265:369-83. 2004
    ..Moreover, ablating different pairs of cardiac connexins results in distinct heart defects, suggesting both common and unique functions for Cx40, Cx43, and Cx37 during cardiac morphogenesis...
  75. ncbi Valproic acid increases formation of reactive oxygen species and induces apoptosis in postimplantation embryos: a role for oxidative stress in valproic acid-induced neural tube defects
    Emily W Y Tung
    Department of Biomedical and Molecular Sciences, Graduate Program in Pharmacology and Toxicology, Queen s University, Kingston, Ontario, Canada
    Mol Pharmacol 80:979-87. 2011
    ..including heart defects, craniofacial abnormalities, skeletal and limb defects, and, most frequently, neural tube defects (NTDs)...
  76. ncbi Maternal one-carbon metabolism, MTHFR and TCN2 genotypes and neural tube defects in India
    Koumudi Godbole
    Diabetes Unit, KEM Hospital Research Center, Rasta Peth, Pune, India
    Birth Defects Res A Clin Mol Teratol 91:848-56. 2011
    b>Neural tube defects (NTDs) are among the most common severe congenital malformations, representing a long-term public health burden in India. A deranged one-carbon metabolism and genes regulating this metabolism have been linked to NTDs...
  77. ncbi Not all cases of neural-tube defect can be prevented by increasing the intake of folic acid
    Helmut B Heseker
    Department of Nutrition and Consumer Education, University Paderborn, Warburger Strasse 100, D 33098 Paderborn, Germany
    Br J Nutr 102:173-80. 2009
    ..Policy decisions concerning national mandatory fortification programmes must take into account realistically projected benefits as well as the evidence of risks to all vulnerable groups...
  78. pmc Targeted disruption of mouse Yin Yang 1 transcription factor results in peri-implantation lethality
    M E Donohoe
    Department of Pathology, Harvard Medical School, Boston, Massachusetts 02115, USA
    Mol Cell Biol 19:7237-44. 1999
    ..Our studies demonstrate an essential function for YY1 in the development of the mouse embryo...
  79. ncbi Genetic basis of neural tube defects. II. Genes correlated with folate and methionine metabolism
    Monika Gos
    The Maria Sklodowska Curie Memorial Cancer Center and Institute of Oncology, Department of Cell Biology, ul Roentgena 5, 02 781 Warszawa, Poland
    J Appl Genet 43:511-24. 2002
    ..We present a current list of the folate and homocysteine metabolism genes that are known to be involved in NTD and pay special attention to primary and secondary NTD prevention...
  80. ncbi Integrity of the methylation cycle is essential for mammalian neural tube closure
    Louisa P E Dunlevy
    Neural Development Unit, Institute of Child Health, University College London, United Kingdom
    Birth Defects Res A Clin Mol Teratol 76:544-52. 2006
    ..Closure of the cranial neural tube during embryogenesis is a crucial process in development of the brain. Failure of this event results in the severe neural tube defect (NTD) exencephaly, the developmental forerunner of anencephaly...
  81. ncbi Folic acid: a public-health challenge
    Monika Eichholzer
    Institute of Social and Preventive Medicine, University of Zurich, Hirschengraben 84, 8001 Zurich, Switzerland
    Lancet 367:1352-61. 2006
    ..campaigns recommending periconceptional daily supplementation of synthetic folic acid to reduce the risk of neural tube defects, many women are not following these recommendations...
  82. ncbi Fortification of flour with folic acid
    Robert J Berry
    Centers for Disease Control and Prevention, Mail Stop E 86, 1600 Clifton Rd, NE, Atlanta, GA 30333, USA
    Food Nutr Bull 31:S22-35. 2010
    ..In 1998, folic acid fortification of all enriched cereal grain product flour was fully implemented in the United States and Canada...
  83. ncbi Folic acid alone prevents neural tube defects: evidence from the China study
    Robert J Berry
    Epidemiology 13:114-6. 2002
  84. ncbi Peptide-mediated protection from ethanol-induced neural tube defects
    Shao Yu Chen
    Bowles Center for Alcohol Studies and Department of Cell and Developmental Biology, University of North Carolina, Chapel Hill, NC 27599 7178, USA
    Dev Neurosci 27:13-9. 2005
    ..Ethanol exposure resulted in neural tube defects (NTDs) consistent with total dysraphia and anencephaly...
  85. ncbi Differences in exposure assignment between conception and delivery: the impact of maternal mobility
    Philip J Lupo
    Division of Epidemiology and Disease Control, University of Texas School of Public Health, 1200 Herman Pressler Drive, Houston, TX 77030, USA
    Paediatr Perinat Epidemiol 24:200-8. 2010
    ....
  86. ncbi Global DNA hypomethylation is associated with NTD-affected pregnancy: A case-control study
    Xiaoli Chen
    Department of Molecular Immunology, Capital Institute of Pediatrics, Beijing, China
    Birth Defects Res A Clin Mol Teratol 88:575-81. 2010
    b>Neural tube defects are severe, common birth defects that result from failure of neural tube closure. They are considered to be a multifactorial disorder, and our knowledge of causal mechanisms remains limited...
  87. ncbi Neural tube defects in relation to use of folic acid antagonists during pregnancy
    S Hernandez-Diaz
    Slone Epidemiology Unit, Boston University School of Public Health, Brookline, MA 02446, USA
    Am J Epidemiol 153:961-8. 2001
    Periconceptional folic acid supplementation reduces the risk of neural tube defects (NTDs)...
  88. pmc Folic acid to reduce neonatal mortality from neural tube disorders
    Hannah Blencowe
    London School of Hygiene and Tropical Medicine, London, UK
    Int J Epidemiol 39:i110-21. 2010
    b>Neural tube defects (NTDs) remain an important, preventable cause of mortality and morbidity. High-income countries have reported large reductions in NTDs associated with folic acid supplementation or fortification...
  89. pmc A common variant in MTHFD1L is associated with neural tube defects and mRNA splicing efficiency
    Anne Parle-McDermott
    Nutritional Genomics Group, School of Biotechnology, Dublin City University, Dublin 9, Ireland
    Hum Mutat 30:1650-6. 2009
    ..Polymorphisms in folate-related genes have emerged as important risk factors in a range of diseases including neural tube defects (NTDs), cancer, and coronary artery disease (CAD)...
  90. ncbi Curvature of the caudal region is responsible for failure of neural tube closure in the curly tail (ct) mouse embryo
    F A Brook
    Department of Zoology, University of Oxford, UK
    Development 113:671-8. 1991
    ..extent in homozygous mutant curly tail (ct) mouse embryos, and results in the development of spinal neural tube defects (NTD) in 60% of embryos...
  91. ncbi A temporal association between folic acid fortification and an increase in colorectal cancer rates may be illuminating important biological principles: a hypothesis
    Joel B Mason
    Jean Mayer U S Department of Agriculture Human Nutrition Research Center on Aging at Tufts University, Boston, MA 02111, USA
    Cancer Epidemiol Biomarkers Prev 16:1325-9. 2007
    ..The rationale was to reduce the number of births complicated by neural tube defects. Concurrently, the United States and Canada experienced abrupt reversals of the downward trend in ..
  92. pmc Maternal vitamin B12 status and risk of neural tube defects in a population with high neural tube defect prevalence and no folic Acid fortification
    Anne M Molloy
    Schools of Medicine, Trinity College Dublin, School of Medicine, Dublin 2, Ireland
    Pediatrics 123:917-23. 2009
    ..Our objective was to quantify the effect of low B(12) status on neural tube defect risk in a high-prevalence, unfortified population...
  93. ncbi Circletail, a new mouse mutant with severe neural tube defects: chromosomal localization and interaction with the loop-tail mutation
    J N Murdoch
    Neural Development Unit, Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH, UK
    Genomics 78:55-63. 2001
    ..8 cM on central chromosome 15. Partial penetrance of the craniorachischisis phenotype in Crc/+,Lp/+double heterozygotes suggests the existence of a third, unlinked genetic locus that influences the interaction between Crc and Lp...
  94. ncbi Nutritional and genetic determinants of vitamin B and homocysteine metabolisms in neural tube defects: a multicenter case-control study
    Mirande Candito
    INSERM U 145, Department of Biochemistry, CHU Nice Hôpital Pasteur, Nice, France
    Am J Med Genet A 146:1128-33. 2008
    b>Neural tube defects (NTDs) are severe congenital malformations due to failure of neural tube formation in early pregnancy...
  95. ncbi Low compliance with recommendations on folic acid use in relation to pregnancy: is there a need for fortification?
    Vibeke K Knudsen
    Maternal Nutrition Group, Danish Epidemiology Science Centre, Statens Serum Institut, Copenhagen S, Denmark
    Public Health Nutr 7:843-50. 2004
    As a means to prevent neural tube defects (NTDs), women planning pregnancy in Denmark are recommended to take a dietary supplement of 400 microg folic acid daily during the periconceptional period...
  96. ncbi Sex difference in neural tube defects in p53-null mice is caused by differences in the complement of X not Y genes
    Xuqi Chen
    Department of Physiological Science, University of California, Los Angeles, CA, USA
    Dev Neurobiol 68:265-73. 2008
    To shed light on the biological origins of sex differences in neural tube defects (NTDs), we examined Trp53-null C57BL/6 mouse embryos and neonates at 10.5 and 18.5 days post coitus (dpc) and at birth...
  97. pmc Human neural tube defects: developmental biology, epidemiology, and genetics
    Eric R Detrait
    Hopital Necker, Enfants Malades Unité INSERM U393, 149, rue de Sevres, 75743 Paris Cedex 15, France
    Neurotoxicol Teratol 27:515-24. 2005
    Birth defects (congenital anomalies) are the leading cause of death in babies under 1 year of age. Neural tube defects (NTD), with a birth incidence of approximately 1/1000 in American Caucasians, are the second most common type of birth ..
  98. ncbi Epidemiology of neural tube defects
    Laura E Mitchell
    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 C Semin Med Genet 135:88-94. 2005
    The epidemiological investigation of the common open neural tube defects (NTDs), anencephaly, and spina bifida, has a long history...
  99. ncbi Independent mutations in mouse Vangl2 that cause neural tube defects in looptail mice impair interaction with members of the Dishevelled family
    Elena Torban
    Department of Biochemistry, Center for Host Resistance and McGill Cancer Center, McGill University, Montreal, Quebec H3G 1Y6, Canada
    J Biol Chem 279:52703-13. 2004
    ..the two known Vangl2 loss-of-function mutations identified in two independent Lp alleles associated with neural tube defects impair binding to Dvl1, Dvl2, and Dvl3...
  100. ncbi Planar cell polarity, ciliogenesis and neural tube defects
    John B Wallingford
    Department of Molecular Cell and Developmental Biology and Institute for Cellular and Molecular Biology, University of Texas, Austin, TX 78712, USA
    Hum Mol Genet 15:R227-34. 2006
    ..In particular, I will focus on how this interaction may influence the process of neural tube closure and how these results may be relevant to our understanding of common human birth defects in which neural tube closure is compromised...

Research Grants70

  1. SPEAKER TRAVEL AND SCIENTIFIC SESSION SUPPORT FOR THE TERATOLOGY SOCIETY 50TH
    Christina Chambers; Fiscal Year: 2011
    ..Children is reflected in a number of scientific sessions, including a plenary symposium on Vitamin B12 and Neural Tube Defects: Is it Time to Fortify Food with B12?, another on Herbal Supplement Usage during Pregnancy, which will ..
  2. Protein Modifications and Unfolded Protein Response in Diabetic Embryopathy
    Zhiyong Zhao; Fiscal Year: 2013
    ..The common anomalies resulted from diabetic pregnancy are in the central nervous system, primarily neural tube defects (NTDs)...
  3. Ibuprofen and enteric neural crest precursor migration
    ELLEN MERRICK; Fiscal Year: 2013
    ..birth defects is to develop strategies to prevent them from occurring, as exemplified by the decrease of neural tube defects due to folic acid supplementation...
  4. Gene Networks in Neural Crest-derived Innervation of the Lower Urinary Tract
    E MICHELLE MICHELLE SOUTHARD SMITH; Fiscal Year: 2010
    ..The association between neural tube defects and bladder dysfunction as well as the neural crest (NC) origin of sympathetic and parasympathetic inputs ..
  5. Pregnancy Folate Status &Early Childhood Respiratory &Atopic Disease Outcomes
    KECIA NICOLE CARROLL; Fiscal Year: 2013
    ..with folic acid, synthetic folate, is recommended during the periconceptional period to prevent neural tube defects (NTD)...
  6. Mammalian Mitochondrial One-Carbon Metabolism
    DEAN RAMSAY APPLING; Fiscal Year: 2010
    ..g. cardiovascular disease and neural tube defects), and in the recently recognized connection between homocysteine and mitochondrial one-carbon metabolism...
  7. Using shared mechanisms of morphogenesis to study neural tube defects
    JESSICA LEE SULLIVAN-BROWN; Fiscal Year: 2012
    ..Neural tube closure (NTC) is a morphogenetic event, and neural tube defects (NTDs), including spina bifida and anencephaly, are the second leading cause of congenital disorders...
  8. Cellular Biomechanics of Heat-Shock Induced Defects in Drosophila Embryogenesis
    M Shane Hutson; Fiscal Year: 2013
    ..For example, in humans and other mammals, exposure to extreme heat can lead to neural tube defects, and exposure to alcohol can lead to a characteristic spectrum of defects, in the most severe cases ..
  9. Hyperhomocysteinemia, S-adenosylhomocysteine Accumulation, and Epigenetics
    Warren D Kruger; Fiscal Year: 2013
    ..coronary heart disease, stroke, dementia, Alzheimer's disease, diabetes, osteoporosis, cancer, neural tube defects and steatosis of the liver...
  10. Gene-Nutrient Interactions in Neural Tube Defects
    Patrick J Stover; Fiscal Year: 2012
    ..and pathologies (including certain cancers, cardiovascular disease) and developmental anomalies (including neural tube defects (NTDs)) result from altered AdoMet synthesis and/or dTMP synthesis...
  11. Homocysteine: Vascular Biochemistry and Metabolism
    DONALD WELDON JACOBSEN; Fiscal Year: 2010
    ..completed in January, 1998, has had a profound effect on reducing the incidence of hyperhomocysteinemia, neural tube defects and, possibly, mortality due to stroke and heart attack...
  12. Massachusetts Center for Birth Defects Research and Prevention
    Allen A Mitchell; Fiscal Year: 2013
    ..condition cause birth defects, an opportunity for sizable prevention exists);4) Glycemic load and non-neural tube defects (Dietary patterns have changed over the past decades, with many persons replacing consumption of proteins ..
  13. IL-6-mediated Jak2/Stat3 signaling and Brain Development
    Jun Tan; Fiscal Year: 2011
    ..These studies could lay the foundation for diosmin as a prenatal supplement in at-risk mothers to avoid autism development in their children, much like folate is currently in use to avoid neural tube defects.
  14. Planar Cell Polarity Signaling in Hair Follicle Formation
    Jiang Chen; Fiscal Year: 2013
    ..Disruption of the PCP signaling pathway can result in human diseases such as neural tube defects (NTDs), one of the most common forms of birth defects...
  15. Transcriptional Coactivators and Pregnancy Outcomes
    Robert M Greene; Fiscal Year: 2012
    ..nervous system (CNS), and the incidence and recurrence of certain developmental disorders of the CNS (neural tube defects, NTDs)...
  16. Stable isotope evaluation of the methionine cycle in undernourished pregnancy
    Peter W Nathanielsz; Fiscal Year: 2013
    ..gene-environment interactions). Impaired methyl transfers have structural and metabolic consequences e.g. neural tube defects and high homocysteine (HCYS)...
  17. Neural Crest Contributions to the Bladder
    E MICHELLE MICHELLE SOUTHARD SMITH; Fiscal Year: 2010
    ..Spina bifida is the most common etiology of pediatric neurogenic bladder. The association between neural tube defects and bladder dysfunction as well as the neural crest (NC) origin of sympathetic and parasympathetic inputs ..
  18. Genetic Susceptibility of Neural Tube Defects: Diabetes/Obesity-related Genes
    Huiping Zhu; Fiscal Year: 2010
    ..PUBLIC HEALTH RELEVANCE: Neural tube defects are common, serious birth defects that affect approximately 324,000 births worldwide and 3,000 pregnancies ..
  19. Planar Cell Polarity and the Cytoskeleton
    Andreas Jenny; Fiscal Year: 2013
    ..in which or dominant negative forms of which lead to ommatidial rotation/migration and convergent extension/neural tube defects in flies and fish, respectively...
  20. Mycotoxins and Birth Defects: A Global Health Concern?
    Janee Gelineau van Waes; Fiscal Year: 2010
    ..FB1-contaminated food during early pregnancy has recently been linked to increased risk for offspring with neural tube defects (NTDs) in global communities that rely on maize as a dietary staple...
  21. Epigenome Interactions in Complex Neurogenetic Disorders
    MARGARET ELIZABETH ROSS; Fiscal Year: 2013
    ..We propose to take advantage of a disorder, neural tube defects (NTDs), in which the existing mouse models closely parallel the human disease and in which several lines of ..
  22. Metabolic Cellular Stress and its Regulatory Mechanism in Diabetic Embryopathy
    Peixin Yang; Fiscal Year: 2012
    ..the non-toxic autophagy activator, trehalose, reverses hyperglycemia-induced autophagy impairment and neural tube defects (NTDs);3) PKCa gene deletion, a p70S6K1 inhibitor, an ER chaperone (4-PBA) and overexpression of sirtuin 2 (..
  23. GENETIC ANALYSIS OF CONVERGENT EXTENSION IN ZEBRAFISH
    Lilianna Solnica-Krezel; Fiscal Year: 2013
    ..In humans, mutations in Wnt/PCP pathway genes have been identified as a risk factor for neural tube defects. In addition, Fat genes have been implicated in control of organ size and recently emerged as candidates ..
  24. SIGNALING MECHANISMS CONTROLLING PLANAR CELL POLARITY
    Jeffrey D Axelrod; Fiscal Year: 2013
    ..Other PCP related developmental defects in humans and in model organisms include open neural tube defects, polycystic kidneys, and conotruncal heart defects...
  25. Network-directed discovery of disease genes
    Edward M Marcotte; Fiscal Year: 2012
    ..We focus in particular on discovering genes underlying neural tube defects (NTDs), the second most common cause of human birth defects affecting nearly 1 in 1000 live births world-..
  26. Regulation of cell polarity during neurulation
    RACHEL MELISSA BREWSTER; Fiscal Year: 2013
    ..These studies will ultimately increase our understanding of how neurulation is orchestrated and provide a molecular basis for exploring the etiology of posterior neural tube defects in humans.
  27. Novel Ubiquitin Dependent Pathways Regulating Neural Tube Closure &Placentation
    Irene E Zohn; Fiscal Year: 2013
    ..b>Neural tube defects including spina bifida and anencephaly are some of the most common morphological birth defects affecting ..
  28. Neural Crest Contributions to the Lower Urinary Tract
    E Michelle Southard-Smith; Fiscal Year: 2012
    ..The association between neural tube defects and bladder dysfunction as well as the NC origin of sympathetic and parasympathetic inputs that innervate ..
  29. Apoptotic Mechanism of Maternal Diabetes-Induced Neural Tube Defects
    Peixin Yang; Fiscal Year: 2013
    ..TRADD then induces apoptosis in the neuroepithelium of the developing embryo leading to neural tube defects (Neural tube defect, NTD) characteristic of the disease (Fig. 1)...
  30. Function of intramembrane aspartic protease
    Evgeny I Rogaev; Fiscal Year: 2012
    ..2) Inactivation of hIMP1 will lead to brain abnormalities, including neural tube defects and anencephaly, a common cause of perinatal lethality or severe brain pathology in humans...
  31. Iron Deficiency and Neural Tube Defects
    Irene E Zohn; Fiscal Year: 2013
    b>Neural tube defects (NTDs) including spina bifida, anencephaly and holoprosencephaly are some of the most common structural birth defects observed in humans...
  32. Genetic Regulation of Valproic Acid Teratogenicity
    Richard H Finnell; Fiscal Year: 2013
    ..objective of this research proposal is to identify and characterize the genetic modifiers of VPA-induced neural tube defects (NTDs)...
  33. FOLLOW-UP STUDY OF MOTHERS, CHILDREN &FAMILIES IN CHINA NTD INTERVENTION PROGRAM
    Wang Yu; Fiscal Year: 2011
    ..to follow-up mothers, children, fathers and grandparents in a community Intervention program to prevent neural tube defects (NTD) through the daily use of folic acid supplements during the periconceptional period, and estimate the ..
  34. Mouse models of human cerebellar malformations
    KATHLEEN JOYCE MILLEN; Fiscal Year: 2010
    ..defects of the cerebellum in humans have received less attention than other brain malformations such as neural tube defects and cortical malformations. Yet, cerebellar malformations are common, affecting approximately 1/5000 births...
  35. Lamarck Redux: Transgenerational genetic effects on phenotypes and disease
    Joseph H Nadeau; Fiscal Year: 2011
    ..My accomplishments in comparative genomics, the developmental biology of neural tube defects and testicular cancer, the physiological genetics of obesity and metabolic diseases, and the genetic ..
  36. Lamarck Redux: Transgenerational genetic effects on phenotypes and disease
    Joseph H Nadeau; Fiscal Year: 2013
    ..My accomplishments in comparative genomics, the developmental biology of neural tube defects and testicular cancer, the physiological genetics of obesity and metabolic diseases, and the genetic ..
  37. Function of Mesendoderm in Closure of the Anterior Neural Tube
    Jennifer O Liang; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Neural tube defects (NTD), resulting from a failure in the transformation of a flat neural plate into a closed neural tube, occur in approximately one in every thousand births...
  38. Homeostatic Regulation of Folate Metabolism
    Patrick J Stover; Fiscal Year: 2013
    ..reported that the Shmt-/+ mouse model accumulates uracil in DNA and is sensitized to intestinal tumors and neural tube defects. SHMT1 is the only reported folate-dependent enzyme whose disruption results in folate-responsive neural ..
  39. Investigating the generation of mechanical forces during tissue invagination
    ADAM CHRISTOPHER MARTIN; Fiscal Year: 2013
    ..Improper generation or coordination of forces leads to defects in organ formation, such as neural tube defects. Abnormal activation of pathways that generate cellular forces and drive cell shape change can promote ..
  40. Opportunities in Hydrocephalus: Pathways to Better Outcomes
    Samuel R Browd; Fiscal Year: 2012
    ..basic neuroscience, neurosurgery, neurology, psychiatry/psychology, neurotrauma, developmental disorders, neural tube defects, bioengineering, infectious disease, diagnostic imaging, and applied mathematics...
  41. Synthesis and Study of Novel Sensing Agents
    Robert M Strongin; Fiscal Year: 2010
    ..Homocysteine has also been linked to increased risk of Alzheimer's disease, neural tube defects and complications during pregnancy, inflammatory bowel disease and osteoporosis...
  42. Impact of Genetic Variation on Folate Metabolism: Etiology of Neural Tube Defect
    JASPER D RINE; Fiscal Year: 2013
    ..in genes encoding folate metabolizing enzymes was responsible, at least in part, for the occurrence of neural tube defects (NTDs) among newborns...
  43. Improving Outcomes in Hydrocephalus: Bridging the Gap between Basic Science and C
    James McAllister; Fiscal Year: 2009
    ..basic neuroscience, neurosurgery, neurology, psychiatry/psychology, neurotrauma, developmental disorders, neural tube defects, bioengineering, infectious disease, diagnostic imaging, and applied mathematics...
  44. Study of Neural Tube Defects Etiology: Genome and Exposome
    Huiping Zhu; Fiscal Year: 2013
    ..Exposure and genetic markers will be identified through our effort. The information derived from these studies could provide the foundation for population-based or targeted, exposure-based and genotype-based risk-assessment strategies. ..
  45. Epithelial Cell Structure in Vertebrate Development
    Jeffrey D Hildebrand; Fiscal Year: 2010
    ..morphogenesis during vertebrate embryogenesis in humans, mice, and frogs, as defects in these genes cause neural tube defects and X-linked mental retardation...
  46. Mechanism of a novel cause of spina bifida
    JOHN A KLINGENSMITH; Fiscal Year: 2010
    ..In contrast to virtually all other mouse strains with neural tube defects, the spina bifida phenotype in Noggin does not occur through a failure of the dorsal neural folds to close ..
  47. Mechanisms of mitochondrial folate metabolism in neural tube closure
    JESSICA E MOMB; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Neural tube defects (NTDs), among the most common birth defects in humans, are believed to have multifactorial causes...
  48. Risk Genes and Environment Interactions in NTDs
    MARGARET ELIZABETH ROSS; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Neural tube defects (NTDs), primarily spina bifida and anencephaly, arise from a complex interplay of multiple gene interactions and environmental exposures...
  49. Signaling to Cellular Intercalation in Arabidopsis
    Zhenbiao Yang; Fiscal Year: 2013
    ..Because failure in CE causes neural tube defects, a common developmental disorder (1 out of 1000 pregnancies), this research might ultimately be relevant to ..
  50. Arsenic and the Risk of Neural Tube Defects in China
    Analee J Etheredge; Fiscal Year: 2010
    b>Neural tube defects (NTDs) are serious congenital malformations that are associated with significant morbidity and mortality...
  51. Characterization of craniofacial development in a zebrafish mutant lacking all cr
    TRACIE L FERREIRA; Fiscal Year: 2011
    ..This mutant has neural tube defects and lacks all craniofacial cartilages, a novel defect not isolated in previous ENU screens performed in ..
  52. Regulation of neural development by TGF beta family signaling
    David Wotton; Fiscal Year: 2013
    ..Neural tube development requires the coordination of a complex series of morphological events, and neural tube defects are among the most common human birth defects...
  53. MOUSE MODELS FOR NEURAL TUBE DEFECTS
    Muriel T Davisson; Fiscal Year: 2009
    ..b>Neural tube defects (NTDs), which include spina bifida and anencephaly, are one of the most frequent and severe developmental ..
  54. SPINA BIFIDA: COGNITIVE AND NEUROBIOLOGICAL VARIABILITY
    Jack Fletcher; Fiscal Year: 2009
    ..Project I (Genetics;Northrup, PI) evaluates genetic factors associated with SB and related neural tube defects in a sample of over 2,000 Hispanic and Caucasian participants...
  55. Genetic analysis of cell fate specification in the mammalian dorsal spinal cord.
    VANESSA LYNN HORNER; Fiscal Year: 2010
    ..Disruption of these pathways during embryogenesis can cause the most common class of birth defects, neural tube defects. In adults, disruption of these pathways is implicated in tumor formation and cancer...
  56. MENTORED PATIENT ORIENTED RESEARCH CAREER DEVELOPMENT AW
    MARK STEEN; Fiscal Year: 2001
    ..Third, the CAP will begin the direct study of MS by developing biochemical discriminants for MS carriers in a rare large family with MS deficiency, and will result in the initiation of direct investigation of the enzyme. ..
  57. Effects of Dioxin on Vietnamese Civilians
    David Carpenter; Fiscal Year: 2004
    ..The investigators will study cases of a) cleft lip/cleft palate, b) neural tube defects, including spina bifida, anecephaly and microcephaly, and c) limb abnormalities/limb reduction...
  58. PRENATAL DOWN SYNDROME SCREENING
    Rachel Fisher; Fiscal Year: 1993
    ..MSAFP screening is now used routinely to detect DS as well as for its original purpose to detect neural tube defects. Two other maternal serum biochemical markers have recently been reported to be altered in DS pregnancies...
  59. Primary Children's Medical Center Spina Bifida Patient Registry
    PAULA RUTH PETERSON; Fiscal Year: 2013
    ..In Utah, there has actually been an increase in the prevalence of all neural tube defects (NTD's) since 2003, and no reduction in SB1...
  60. GENETIC EFFECTS-FOLATE-DEPENDENT ONE-CARBON METABOLISM
    JESSE GREGORY; Fiscal Year: 2004
    ..are associated with elevation in plasma Hcy and increased risk of vascular disease, certain cancers, and neural tube defects. A common mutation of methylene-tetrahydrofolate reductase (MTHFR), known as the "thermolabile" or C677T ..
  61. GENETIC MODULATION OF CBS TO LOWER PLASMA HOMOCYSTEINE
    Warren Kruger; Fiscal Year: 2009
    ..levels are associated with an increased risk of a number of human diseases including vascular disease, neural tube defects, age-related dementia, and osteoporoticfractures...
  62. Seattle Children's Hospital Spina Bifida Registry
    William Otis Walker; Fiscal Year: 2010
    ..Spina bifida (SB) is a serious birth defect, and is the most common of the neural tube defects (NTDs). As of 2001, 20...
  63. FOLATE-RESPONSIVE DYSGENESIS
    ASOK ANTONY; Fiscal Year: 2004
    ..FR may be established as a cause for dysgenesis of the developing embryo, in particular the production of neural tube defects and abnormalities of neural crest cells...
  64. EARLY DEVELOPMENTAL GENES AND AUTISM
    Patricia Rodier; Fiscal Year: 2000
    ..been though that injuries during the first states of brain development either kill the embryo, result in neural tube defects, or are followed by complete recovery of the CNS, making this period of little interest to ..
  65. GENETIC RISK FACTORS FOR HYPERHOMOCYSTEINEMIA
    ROY GRAVEL; Fiscal Year: 2006
    ..cardiovascular disease and that low folate shows association with increased risk for having a child with neural tube defects. Extrapolating from the central role played by a polymorphism of MTHFR in this process, we set out to clone ..
  66. BIRTH DEFECTS TREATMENT AND PREVENTION PROGRAM
    Jeffrey Murray; Fiscal Year: 2007
    ..changes in outcomes of this based around the known preventive effect of folic acid supplementation for neural tube defects and the likely effect that it may have on cleft lip and palate...
  67. POTOCYTOSIS AND PLACENTAL TRANSPORT FUNCTION
    Vadivel Ganapathy; Fiscal Year: 1999
    ..findings that supplementation of the vitamin during the periconceptional period decreases the incidence of neural tube defects in developing fetus...
  68. Vascular Biochemistry of Vitamin B12
    DONALD JACOBSEN; Fiscal Year: 2006
    ..risk factor for cardiovascular disease and is also associated with other devastating conditions such as neural tube defects and Alzheimer's disease...
  69. The Bioavilaibility of Folate in Humans
    Richard van Breemen; Fiscal Year: 2004
    ..In addition, maternal folate has been shown to prevent neural tube defects such as spina bifida and anencephalus...