References
1 Gelineau‐van Waes, J, Finnell, RH. Genetics of neural tube defects. Semin Pediatr Neurol 2001; 8: 160–164.
2 Copp, AJ, Greene, ND, Murdoch, JN. The genetic basis of mammalian neurulation. Nat Rev Genet 2003; 4: 784–793.
3 Harris, MJ. Insights into prevention of human neural tube defects by folic acid arising from consideration of mouse mutants. Birth Defects Res A Clin Mol Teratol 2009; 85: 331–339.
4 Gray, JD, Ross, ME. Mechanistic insights into folate supplementation from Crooked tail and other NTD‐prone mutant mice. Birth Defects Res A Clin Mol Teratol 2009; 85: 314–321.
5 Harris, MJ, Juriloff, DM. Mouse mutants with neural tube closure defects and their role in understanding human neural tube defects. Birth Defects Res A Clin Mol Teratol 2007; 79: 187–210.
6 Wald, N, Sneddon, J, Densem, J, Frost, C, Stone, R; MRC, VSRG. Prevention of neural tube defects: results of the medical research council vitamin study. Lancet 1991; 338: 131–137.
7 Czeizel, AE, Toth, M, Rockenbauer, M. Population‐based case control study of folic acid supplementation during pregnancy. Teratology 1996; 53: 345–351.
8 Shaw, GM, Schaffer, D, Velie, EM, Morland, K, Harris, JA. Periconceptional vitamin use, dietary folate, and the occurrence of neural tube defects. Epidemiology 1995; 6: 219–226.
9 Berry, RJ, Li, Z, Erickson, JD, Li, S, Moore, CA,
et al. Prevention of neural‐tube defects with folic acid in China. China–U.S. Collaborative Project for Neural Tube Defect Prevention. N Engl J Med 1999; 341: 1485–1490.
10 Blom, HJ, Shaw, GM, den Heijer, M, Finnell, RH. Neural tube defects and folate: case far from closed. Nat Rev Neurosci 2006; 7: 724–731.
11 Beaudin, AE, Stover, PJ. Folate‐mediated one‐carbon metabolism and neural tube defects: balancing genome synthesis and gene expression. Birth Defects Res C Embryo Today 2007; 81: 183–203.
12 Miller, AL. The methylation, neurotransmitter, and antioxidant connections between folate and depression. Altern Med Rev 2008; 13: 216–226.
13 Holmes, LB, Driscoll, SG, Atkins, L. Etiologic heterogeneity of neural‐tube defects. N Engl J Med 1976; 294: 365–369.
14 Janerich, DT, Piper, J Shifting genetic patterns in anencephaly and spina bifida. J Med Genet 1978; 15: 101–105.
15 Elwood, JM, Little, J, Elwood, JH
Epidemiology and Control of Neural Tube Defects. Oxford:
Oxford University Press; 1992.
16 Shaw, GM, Jensvold, NG, Wasserman, CR, Lammer, EJ. Epidemiologic characteristics of phenotypically distinct neural tube defects among 0.7 million California births, 1983–1987. Teratology 1994; 49: 143–149.
17 Neumann, PE, Frankel, WN, Letts, VA, Coffin, JM, Copp, AJ,
et al. Multifactorial inheritance of neural tube defects: localization of the major gene and recognition of modifiers in ct mutant mice. Nat Genet 1994; 6: 357–362.
18 Gustavsson, P, Greene, ND, Lad, D, Pauws, E, de Castro, SC,
et al. Increased expression of Grainyhead‐like‐3 rescues spina bifida in a folate‐resistant mouse model. Hum Mol Genet 2007; 16: 2640–2646.
19 Juriloff, DM, Gunn, TM, Harris, MJ, Mah, DG, Wu, MK,
et al. Multifactorial genetics of exencephaly in SELH/Bc mice. Teratology 2001; 64: 189–200.
20 Kim, TH, Goodman, J, Anderson, KV, Niswander, L Phactr4 regulates neural tube and optic fissure closure by controlling PP1‐, Rb‐, and E2F1‐regulated cell‐cycle progression. Dev Cell 2007; 13: 87–102.
21 Curtin, JA, Quint, E, Tsipouri, V, Arkell, RM, Cattanach, B,
et al. Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouse. Curr Biol 2003; 13: 1129–1133.
22 Carroll, EA, Gerrelli, D, Gasca, S, Berg, E, Beier, DR,
et al. Cordon‐bleu is a conserved gene involved in neural tube formation. Dev Biol 2003; 262: 16–31.
23 Ybot‐Gonzalez, P, Savery, D, Gerrelli, D, Signore, M, Mitchell, CE,
et al. Convergent extension, planar‐cell‐polarity signalling and initiation of mouse neural tube closure. Development 2007; 134: 789–799.
24 Wang, J, Hamblet, NS, Mark, S, Dickinson, ME, Brinkman, BC,
et al. Dishevelled genes mediate a conserved mammalian PCP pathway to regulate convergent extension during neurulation. Development 2006; 133: 1767–1778.
25 Wang, Y, Guo, N, Nathans, J. The role of Frizzled3 and Frizzled6 in neural tube closure and in the planar polarity of inner‐ear sensory hair cells. J Neurosci 2006; 26: 2147–2156.
26 Montcouquiol, M, Sans, N, Huss, D, Kach, J, Dickman, JD,
et al. Asymmetric localization of Vangl2 and Fz3 indicate novel mechanisms for planar cell polarity in mammals. J Neurosci 2006; 26: 5265–5275.
27 Park, TJ, Haigo, SL, Wallingford, JB. Ciliogenesis defects in embryos lacking inturned or fuzzy function are associated with failure of planar cell polarity and Hedgehog signaling. Nat Genet 2006; 38: 303–311.
28 Kibar, Z, Torban, E, McDearmid, JR, Reynolds, A, Berghout, J,
et al. Mutations in VANGL1 associated with neural‐tube defects. N Engl J Med 2006; 356: 1432–1437.
29 Goodrich, LV, Milenkovic, L, Higgins, KM, Scott, MP. Altered neural cell fates and medulloblastoma in mouse patched mutants. Science 1997; 277: 1109–1113.
30 Hui, CC, Joyner, AL. A mouse model of greig cephalopolysyndactyly syndrome: the extra‐toesJ mutation contains an intragenic deletion of the
Gli3 gene. Nat Genet 1993; 3: 241–246.
31 Liu, A, Wang, B, Niswander, LA. Mouse intraflagellar transport proteins regulate both the activator and repressor functions of Gli transcription factors. Development 2005; 132: 3103–3111.
32 Ross, AJ, May‐Simera, H, Eichers, ER, Kai, M, Hill, J,
et al. Disruption of Bardet–Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat Genet 2005; 37: 1135–1140.
33 Bach, A, Lallemand, Y, Nicola, MA, Ramos, C, Mathis, L. Msx1 is required for dorsal diencephalon patterning. Development 2003; 130: 4025–4036.
34 Ishii, M, Han, J, Yen, HY, Sucov, HM, Chai, Y,
Jr et al. Combined deficiencies of Msx1 and Msx2 cause impaired patterning and survival of the cranial neural crest. Development 2005; 132: 4937–4950.
35 Lallemand, Y, Bensoussan, V, Cloment, CS, Robert, B.
Msx genes are important apoptosis effectors downstream of the Shh/Gli3 pathway in the limb. Dev Biol 2009; 331: 189–198.
36 Zhu, H, Kartiko, S, Finnell, RH. Importance of gene–environment interactions in the etiology of selected birth defects. Clin Genet 2009; 75: 409–423.
37 Eriksson, UJ, Cederberg, J, Wentzel, P. Congenital malformations in offspring of diabetic mothers—animal and human studies. Rev Endocr Metab Disord 2003; 4: 79–93.
38 Werler, MM, Louik, C, Shapiro, S, Mitchell, AA. Prepregnant weight in relation to risk of neural tube defects. JAMA 1996; 275: 1089–1092.
39 Hendricks, KA, Nuno, OM, Suarez, L, Larsen, R. Effects of hyperinsulinemia and obesity on risk of neural tube defects among Mexican Americans. Epidemiology 2001; 12: 630–635.
40 Shaw, GM, Quach, T, Nelson, V, Carmichael, SL, Schaffer, DM,
et al. Neural tube defects associated with maternal periconceptional dietary intake of simple sugars and glycemic index. Am J Clin Nutr 2003; 78: 972–978.
41 Wentzel, P, Wentzel, CR, Gareskog, MB, Eriksson, UJ. Induction of embryonic dysmorphogenesis by high glucose concentration, disturbed inositol metabolism, and inhibited protein kinase C activity. Teratology 2001; 63: 193–201.
42 Lammer,, EJ, Chen,, DT, Hoar,, RM, Agnish,, ND, Benke,, PJ,
et al. Retinoic acid embryopathy. N Engl J Med 1985; 313: 837–841.
43 Azais‐Braesco, V, Pascal, G. Vitamin A in pregnancy: requirements and safety limits. Am J Clin Nutr 2000; 71: 1325S–1333S.
44 Rosa, FW, Wilk, AL, Kelsey, FO. Teratogen update: vitamin A congeners. Teratology 1986; 33: 355–364.
45 Kapron‐Bras, CM, Trasler, DG. Reduction in the frequency of neural tube defects in splotch mice by retinoic acid. Teratology 1985; 32: 87–92.
46 Chen, WH, Morriss‐Kay, GM, Copp, AJ. Genesis and prevention of spinal neural tube defects in the curly tail mutant mouse: involvement of retinoic acid and its nuclear receptors RAR‐beta and RAR‐gamma. Development 1995; 121: 681–691.
47 Liu, J, Qi, J, Zhu, J, Zhang, L, Liang, Y,
et al. Effects of retinoic acid on the expressions of Vangl1 and Vangl2 in mouse fetuses. J Neurogenet 2008; 22: 167–179.
48 Ornoy, A. Neuroteratogens in man: an overview with special emphasis on the teratogenicity of antiepileptic drugs in pregnancy. Reprod Toxicol 2006; 22: 214–226.
49 Dansky, LV, Finnell, RH. Parental epilepsy, anticonvulsant drugs, and reproductive outcome: epidemiologic and experimental findings spanning three decades; 2: human studies. Reprod Toxicol 1991; 5: 301–335.
50 Duncan, S, Mercho, S, Lopes‐Cendes, I, Seni, MH, Benjamin, A,
et al. Repeated neural tube defects and valproate monotherapy suggest a pharmacogenetic abnormality. Epilepsia 2001; 42: 750–753.
51 Defoort, EN, Kim, PM, Winn, LM. Valproic acid increases conservative homologous recombination frequency and reactive oxygen species formation: a potential mechanism for valproic acid‐induced neural tube defects. Mol Pharmacol 2006; 69: 1304–1310.
52 Faiella, A, Wernig, M, Consalez, GG, Hostick, U, Hofmann, C,
et al. A mouse model for valproate teratogenicity: parental effects, homeotic transformations, and altered HOX expression. Hum Mol Genet 2000; 9: 227–236.
53 Okada, A, Kushima, K, Aoki, Y, Bialer, M, Fujiwara, M. Identification of early‐responsive genes correlated to valproic acid‐induced neural tube defects in mice. Birth Defects Res A Clin Mol Teratol 2005; 73: 229–238.
54 Stodgell, CJ, Ingram, JL, O`Bara, M, Tisdale, BK, Nau, H,
et al. Induction of the homeotic gene
Hoxa1 through valproic acid`s teratogenic mechanism of action. Neurotoxicol Teratol 2006; 28: 617–624.
55 Menegola, E, Di Renzo, F, Broccia, ML, Prudenziati, M, Minucci, S,
et al. Inhibition of histone deacetylase activity on specific embryonic tissues as a new mechanism for teratogenicity. Birth Defects Res B Dev Reprod Toxicol 2005; 74: 392–398.
56 Milutinovic, S, D`Alessio, AC, Detich, N, Szyf, M. Valproate induces widespread epigenetic reprogramming which involves demethylation of specific genes. Carcinogenesis 2007; 28: 560–571.
57 Smithells, RW, Sheppard, S, Schorah, CJ. Vitamin dificiencies and neural tube defects. Arch Dis Child 1976; 51: 944–950.
58 Smithells, RW, Nevin, NC, Seller, MJ, Sheppard, S, Harris, R,
et al. Further experience of vitamin supplementation for prevention of neural tube defect recurrences. Lancet 1983; 1: 1027–1031.
59 Czeizel, AE, Dudas, I. Prevention of the first occurrence of neural‐tube defects by periconceptional vitamin supplementation. N Engl J Med 1992; 327: 1832–1835.
60 Beaudin, AE, Stover, PJ. Insights into metabolic mechanisms underlying folate‐responsive neural tube defects: a minireview. Birth Defects Res A Clin Mol Teratol 2009; 85: 274–284.
61 Piedrahita, JA, Oetama, B, Bennett, GD, van Waes, J, Kamen, BA,
et al. Mice lacking the folic acid‐binding protein Folbp1 are defective in early embryonic development. Nat Genet 1999; 23: 228–232.
62 Gelineau‐van Waes, J, Heller, S, Bauer, LK, Wilberding, J, Maddox, JR,
et al. Embryonic development in the reduced folate carrier knockout mouse is modulated by maternal folate supplementation. Birth Defects Res A Clin Mol Teratol 2008; 82: 494–507.
63 Rothenberg, SP, da Costa, MP, Sequeira, JM, Cracco, J, Roberts, JL,
et al. Autoantibodies against folate receptors in women with a pregnancy complicated by a neural‐tube defect. N Engl J Med 2004; 350: 134–142.
64 Molloy, AM, Quadros, EV, Sequeira, JM, Troendle, JF, Scott, JM,
et al. Lack of association between folate‐receptor autoantibodies and neural‐tube defects. N Engl J Med 2009; 361: 152–160.
65 Cabrera, RM, Shaw, GM, Ballard, JL, Carmichael, SL, Yang, W,
et al. Autoantibodies to folate receptor during pregnancy and neural tube defect risk. J Reprod Immunol 2008; 79: 85–92.
66 Shaw, GM, Lammer, EJ, Zhu, H, Baker, MW, Neri, E,
et al. Maternal periconceptional vitamin use, genetic variation of infant reduced folate carrier (A80G), and risk of spina bifida. Am J Med Genet 2002; 108: 1–6.
67 Heid, MK, Bills, ND, Hinrichs, SH, Clifford, AJ. Folate deficiency alone does not produce neural tube defects in mice. J Nutr 1992; 122: 888–894.
68 Burgoon, JM, Selhub, J, Nadeau, M, Sadler, TW. Investigation of the effects of folate deficiency on embryonic development through the establishment of a folate deficient mouse model. Teratology 2002; 65: 219–227.
69 Chen, Z, Karaplis, AC, Ackerman, SL, Pogribny, IP, Melnyk, S,
et al. Mice deficient in methylenetetrahydrofolate reductase exhibit hyperhomocysteinemia and decreased methylation capacity, with neuropathology and aortic lipid deposition. Hum Mol Genet 2001; 10: 433–443.
70 Molloy, AM, Kirke, P, Hillary, I, Weir, DG, Scott, JM. Maternal serum folate and vitamin B12 concentrations in pregnancies associated with neural tube defects. Arch Dis Child 1985; 60: 660–665.
71 Kirke, PN, Molloy, AM, Daly, LE, Burke, H, Weir, DG,
et al. Maternal plasma folate and vitamin B12 are independent risk factors for neural tube defects. Q J Med 1993; 86: 703–708.
72 Botto, LD, Yang, Q. 5,10‐Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review. Am J Epidemiol 2000; 151: 862–877.
73 Davalos, IP, Olivares, N, Castillo, MT, Cantu, JM, Ibarra, B,
et al. The C677T polymorphism of the methylenetetrahydrofolate reductase gene in Mexican mestizo neural‐tube defect parents, control mestizo and native populations. Ann Genet 2000; 43: 89–92.
74 Boyles, AL, Billups, AV, Deak, KL, Siegel, DG, Mehltretter, L,
et al. Neural tube defects and folate pathway genes: family‐based association tests of gene–gene and gene–environment interactions. Environ Health Perspect 2006; 114: 1547–1552.
75 Castro, R, Rivera, I, Ravasco, P, Camilo, ME, Jakobs, C,
et al. 5,10‐Methylenetetrahydrofolate reductase (MTHFR) 677C–%3E T and 1298A–%3E C mutations are associated with DNA hypomethylation. J Med Genet 2004; 41: 454–458.
76 Sawabe, K, Wakasugi, KO, Hasegawa, H. Tetrahydrobiopterin uptake in supplemental administration: elevation of tissue tetrahydrobiopterin in mice following uptake of the exogenously oxidized product 7,8‐dihydrobiopterin and subsequent reduction by an anti‐folate‐sensitive process. J Pharmacol Sci 2004; 96: 124–133.
77 Nachmany, A, Gold, V, Tsur, A, Arad, D, Weil, M. Neural tube closure depends on nitric oxide synthase activity. J Neurochem 2006; 96: 247–253.
78 Bottiglieri, T. Homocysteine and folate metabolism in depression. Prog Neuropsychopharmacol Biol Psychiatry 2005; 29: 1103–1112.
79 Moretti, P, Sahoo, T, Hyland, K, Bottiglieri, T, Peters, S,
et al. Cerebral folate deficiency with developmental delay, autism, and response to folinic acid. Neurology 2005; 64: 1088–1090.
80 Kent, C, Carman, GM. Interactions among pathways for phosphatidylcholine metabolism, CTP synthesis and secretion through the Golgi apparatus. Trends Biochem Sci 1999; 24: 146–150.
81 Fleming, A, Copp, AJ. Embryonic folate metabolism and mouse neural tube defects. Science 1998; 280: 2107–2109.
82 Wlodarczyk, BJ, Tang, LS, Triplett, A, Aleman, F, Finnell, RH. Spontaneous neural tube defects in splotch mice supplemented with selected micronutrients. Toxicol Appl Pharmacol 2006; 213: 55–63.
83 Burren, KA, Savery, D, Massa, V, Kok, RM, Scott, JM,
et al. Gene–environment interactions in the causation of neural tube defects: folate deficiency increases susceptibility conferred by loss of Pax3 function. Hum Mol Genet 2008.
84 Carter, M, Ulrich, S, Oofuji, Y, Williams, DA, Ross, ME. Crooked tail (Cd) models human folate‐responsive neural tube defects. Hum Mol Genet 1999; 8: 2199–2204.
85 Carter, M, Chen, X, Slowinska, B, Minnerath, S, Glickstein, S,
et al. Crooked tail (Cd) model of human folate‐responsive neural tube defects is mutated in Wnt coreceptor lipoprotein receptor‐related protein 6. Proc Natl Acad Sci U S A 2005; 102: 12843–12848.
86 Ernest, S, Carter, M, Shao, H, Hosack, A, Lerner, N,
et al. Parallel changes in metabolite and expression profiles in crooked‐tail mutant and folate‐reduced wild‐type mice. Hum Mol Genet 2006; 15: 3387–3393.
87 Cipollone, D, Carsetti, R, Tagliani, A, Rosado, MM, Borgiani, P,
et al. Folic acid and methionine in the prevention of teratogen‐induced congenital defects in mice. Cardiovasc Pathol 2009; 18: 100–109.
88 Chanson, A, Cardinault, N, Rock, E, Martin, JF, Souteyrand, P,
et al. Decreased plasma folate concentration in young and elderly healthy subjects after a short‐term supplementation with isotretinoin. J Eur Acad Dermatol Venereol 2008; 22: 94–100.
89 Craig, J, Morrison, P, Morrow, J, Patterson, V. Failure of periconceptual folic acid to prevent a neural tube defect in the offspring of a mother taking sodium valproate. Seizure 1999; 8: 253–254.
90 Yerby, MS. Management issues for women with epilepsy: neural tube defects and folic acid supplementation. Neurology 2003; 61: S23–S26.
91 Morrow, JI, Hunt, SJ, Russell, AJ, Smithson, WH, Parsons, L,
et al. Folic acid use and major congenital malformations in offspring of women with epilepsy: a prospective study from the UK Epilepsy and Pregnancy Register. J Neurol Neurosurg Psychiatry 2009; 80: 506–511.
.jpg)
