306 related articles for article (PubMed ID: 12384833)
1. 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.
Brody LC; Conley M; Cox C; Kirke PN; McKeever MP; Mills JL; Molloy AM; O'Leary VB; Parle-McDermott A; Scott JM; Swanson DA
Am J Hum Genet; 2002 Nov; 71(5):1207-15. PubMed ID: 12384833
[TBL] [Abstract][Full Text] [Related]
2. Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects.
Hol FA; van der Put NM; Geurds MP; Heil SG; Trijbels FJ; Hamel BC; Mariman EC; Blom HJ
Clin Genet; 1998 Feb; 53(2):119-25. PubMed ID: 9611072
[TBL] [Abstract][Full Text] [Related]
3. Moderate folic acid supplementation and MTHFD1-synthetase deficiency in mice, a model for the R653Q variant, result in embryonic defects and abnormal placental development.
Christensen KE; Hou W; Bahous RH; Deng L; Malysheva OV; Arning E; Bottiglieri T; Caudill MA; Jerome-Majewska LA; Rozen R
Am J Clin Nutr; 2016 Nov; 104(5):1459-1469. PubMed ID: 27707701
[TBL] [Abstract][Full Text] [Related]
4. Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population.
Parle-McDermott A; Kirke PN; Mills JL; Molloy AM; Cox C; O'Leary VB; Pangilinan F; Conley M; Cleary L; Brody LC; Scott JM
Eur J Hum Genet; 2006 Jun; 14(6):768-72. PubMed ID: 16552426
[TBL] [Abstract][Full Text] [Related]
5. MTHFD1 formyltetrahydrofolate synthetase deficiency, a model for the MTHFD1 R653Q variant, leads to congenital heart defects in mice.
Christensen KE; Deng L; Bahous RH; Jerome-Majewska LA; Rozen R
Birth Defects Res A Clin Mol Teratol; 2015 Dec; 103(12):1031-8. PubMed ID: 26408344
[TBL] [Abstract][Full Text] [Related]
6. A polymorphism in the MTHFD1 gene increases a mother's risk of having an unexplained second trimester pregnancy loss.
Parle-McDermott A; Pangilinan F; Mills JL; Signore CC; Molloy AM; Cotter A; Conley M; Cox C; Kirke PN; Scott JM; Brody LC
Mol Hum Reprod; 2005 Jul; 11(7):477-80. PubMed ID: 16123074
[TBL] [Abstract][Full Text] [Related]
7. The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects.
Christensen KE; Rohlicek CV; Andelfinger GU; Michaud J; Bigras JL; Richter A; Mackenzie RE; Rozen R
Hum Mutat; 2009 Feb; 30(2):212-20. PubMed ID: 18767138
[TBL] [Abstract][Full Text] [Related]
8. A novel mouse model for genetic variation in 10-formyltetrahydrofolate synthetase exhibits disturbed purine synthesis with impacts on pregnancy and embryonic development.
Christensen KE; Deng L; Leung KY; Arning E; Bottiglieri T; Malysheva OV; Caudill MA; Krupenko NI; Greene ND; Jerome-Majewska L; MacKenzie RE; Rozen R
Hum Mol Genet; 2013 Sep; 22(18):3705-19. PubMed ID: 23704330
[TBL] [Abstract][Full Text] [Related]
9. Low Dietary Folate Interacts with MTHFD1 Synthetase Deficiency in Mice, a Model for the R653Q Variant, to Increase Incidence of Developmental Delays and Defects.
Christensen KE; Bahous RH; Hou W; Deng L; Malysheva OV; Arning E; Bottiglieri T; Caudill MA; Jerome-Majewska LA; Rozen R
J Nutr; 2018 Apr; 148(4):501-509. PubMed ID: 29659962
[TBL] [Abstract][Full Text] [Related]
10. Association of main folate metabolic pathway gene polymorphisms with neural tube defects in Han population of Northern China.
Fang Y; Zhang R; Zhi X; Zhao L; Cao L; Wang Y; Cai C
Childs Nerv Syst; 2018 Apr; 34(4):725-729. PubMed ID: 29392422
[TBL] [Abstract][Full Text] [Related]
11. Mild Choline Deficiency and MTHFD1 Synthetase Deficiency Interact to Increase Incidence of Developmental Delays and Defects in Mice.
Christensen KE; Malysheva OV; Carlin S; Matias F; MacFarlane AJ; Jacobs RL; Caudill MA; Rozen R
Nutrients; 2021 Dec; 14(1):. PubMed ID: 35011003
[TBL] [Abstract][Full Text] [Related]
12. Analysis of the MTHFD1 promoter and risk of neural tube defects.
Carroll N; Pangilinan F; Molloy AM; Troendle J; Mills JL; Kirke PN; Brody LC; Scott JM; Parle-McDermott A
Hum Genet; 2009 Apr; 125(3):247-56. PubMed ID: 19130090
[TBL] [Abstract][Full Text] [Related]
13. Mammalian mitochondrial methylenetetrahydrofolate dehydrogenase-cyclohydrolase derived from a trifunctional methylenetetrahydrofolate dehydrogenase-cyclohydrolase-synthetase.
Patel H; Christensen KE; Mejia N; MacKenzie RE
Arch Biochem Biophys; 2002 Jul; 403(1):145-8. PubMed ID: 12061812
[TBL] [Abstract][Full Text] [Related]
14. Methylenetetrahydrofolate dehydrogenase - methenyltetrahydrofolate cyclohydrolase - formyltetrahydrofolate synthetase from porcine liver: evidence to support a common dehydrogenase-cyclohydrolase site.
Drummond D; Smith S; MacKenzie RE
Can J Biochem Cell Biol; 1983 Nov; 61(11):1166-71. PubMed ID: 6607769
[TBL] [Abstract][Full Text] [Related]
15. A pseudogene on the X chromosome for the human trifunctional enzyme MTHFD (methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase).
Italiano C; John SW; Hum DW; MacKenzie RE; Rozen R
Genomics; 1991 Aug; 10(4):1073-4. PubMed ID: 1916813
[TBL] [Abstract][Full Text] [Related]
16. An NTD-associated polymorphism in the 3' UTR of MTHFD1L can affect disease risk by altering miRNA binding.
Minguzzi S; Selcuklu SD; Spillane C; Parle-McDermott A
Hum Mutat; 2014 Jan; 35(1):96-104. PubMed ID: 24123340
[TBL] [Abstract][Full Text] [Related]
17. Maternal Mthfd1 disruption impairs fetal growth but does not cause neural tube defects in mice.
Beaudin AE; Perry CA; Stabler SP; Allen RH; Stover PJ
Am J Clin Nutr; 2012 Apr; 95(4):882-91. PubMed ID: 22378735
[TBL] [Abstract][Full Text] [Related]
18. Chromosomal localization of the gene for the human trifunctional enzyme, methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase.
Rozen R; Barton D; Du J; Hum DW; MacKenzie RE; Francke U
Am J Hum Genet; 1989 Jun; 44(6):781-6. PubMed ID: 2786332
[TBL] [Abstract][Full Text] [Related]
19. Association between MTHFD1 polymorphisms and neural tube defect susceptibility.
Meng J; Han L; Zhuang B
J Neurol Sci; 2015 Jan; 348(1-2):188-94. PubMed ID: 25524527
[TBL] [Abstract][Full Text] [Related]
20. Association between MTHFD1 G1958A polymorphism and neural tube defects susceptibility: a meta-analysis.
Jiang J; Zhang Y; Wei L; Sun Z; Liu Z
PLoS One; 2014; 9(6):e101169. PubMed ID: 24977710
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
