1. |
Copp AJ, Greene ND, Murdoch JN. The genetic basis of mammalian neurulation. Nat Rev Genet, 2003, 4(10): 784-793.
|
2. |
Blom HJ, Smulders Y. Overview of homocysteine and folate metabolism with special refefences to cardiovascular disease and neural tube defects. J Inherit Metah Dis, 2011, 34(1): 75-81.
|
3. |
Berry RJ, Li Z, Erickson JD,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(20): 1485-1490.
|
4. |
De Marco P, Merello E, Calevo MG,et al. Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk. J Hum Genet, 2006, 51(2): 98-103.
|
5. |
Prasoona KR, Sunitha T, Srinadh B,et al. Paternal transmission of MTHFD1 G1958A variant predisposes to neural tube defects in the offspring. Dev Med Child Neurol, 2016, 58(6): 625-631.
|
6. |
Hol FA, van der Put NM, Geurds MP,et al. Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahy- drofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects. Clin Genet, 1998, 52(2): 119-125.
|
7. |
van der Linden IJ, Heil SG, Kouwenberg IC,et al. The methylenetetrahydrofolate dehydrogenase (MTHFD1) 1958G>A variant is not associated with spina bifida risk in the Dutch population. Clin Genet, 2007, 72(6): 599-600.
|
8. |
Stang A. Critical evaluation of the Newcastle-Ottawa scale for the assessment of the quality of nonrandomized studies in meta-analysis. Eur J Epidemiol, 2010, 25(9): 603-605.
|
9. |
Brody LC, Conley M, Cox C,et al. A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group. Am J Hum Genet, 2002, 71(5): 1207-1215.
|
10. |
Parle-McDermott A, Kirke PN, Mills JL,et al. Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population. Eur J Hum Genet, 2006, 14(6): 768-772.
|
11. |
Carroll N, Pangilinan F, Molloy AM,et al. Analysis of the MTHFD1 promoter and risk of neural tube defects. Hum Genet, 2009, 125(3): 247-256.
|
12. |
Doudney K, Grinham J, Whittaker J,et al. Evaluation of folate metabolism gene polymorphisms as risk factors for open and closed neural tube defects. Am J Med Genet A, 2009, 149A (7): 1585-1589.
|
13. |
Marini NJ, Hoffmann TJ, Lammer EJ,et al. A genetic signature of spina bifida risk from pathway-informed comprehensive gene-variant analysis. PLoS One, 2011, 6(11): e28408.
|
14. |
Meng J, Han L, Zhuang B. Association between MTHFD1 polymorphisms and neural tube defect susceptibility. J Neurol Sci, 2015, 348(1-2): 188-194.
|
15. |
Hum DW, Bell AW, Rozen R,et al. Primary structure of a human trifunctional enzyme. Isolation of a cDNA encoding methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase. J Biol Chem, 1988, 263(31): 15946-15950.
|
16. |
Christensen KE, Rohlicek CV, Andelfinger GU,et al. The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects. Hum Mutat, 2009, 30(2): 212-220.
|
17. |
Jiang J, Zhang Y, Wei L,et al. Association between MTHFD1 G1958A polymorphism and neural tube defects susceptibility: a meta-analysis. PLoS One, 2014, 9(6): e101169.
|
18. |
Zheng J, Lu X, Liu H,et al. MTHFD1 polymorphism as maternal risk for neural tube defects: a meta-analysis. Neurol Sci, 2015, 36(4): 607-616.
|