Similar articles for PMID: 16552426

Year	Number of Results
1991	1
1997	1
1998	3
1999	1
2000	2
2001	4
2002	2
2003	2
2004	4
2005	12
2006	6
2007	5
2008	2
2009	8
2010	7
2011	6
2012	3
2013	8
2014	10
2015	7
2016	3
2017	2
2018	2
2019	1
2021	2
2022	1
2023	1
2024	0

1

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. Parle-McDermott A, et al. Eur J Hum Genet. 2006 Jun;14(6):768-72. doi: 10.1038/sj.ejhg.5201603. Eur J Hum Genet. 2006. PMID: 16552426

2

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. Brody LC, et al. Am J Hum Genet. 2002 Nov;71(5):1207-15. doi: 10.1086/344213. Epub 2002 Oct 16. Am J Hum Genet. 2002. PMID: 12384833 Free PMC article.

3

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. Parle-McDermott A, et al. Mol Hum Reprod. 2005 Jul;11(7):477-80. doi: 10.1093/molehr/gah204. Mol Hum Reprod. 2005. PMID: 16123074

4

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. Hol FA, et al. Clin Genet. 1998 Feb;53(2):119-25. doi: 10.1111/j.1399-0004.1998.tb02658.x. Clin Genet. 1998. PMID: 9611072

5

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. Christensen KE, et al. Am J Clin Nutr. 2016 Nov;104(5):1459-1469. doi: 10.3945/ajcn.116.139519. Epub 2016 Oct 5. Am J Clin Nutr. 2016. PMID: 27707701 Free article.

6

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. Christensen KE, et al. Hum Mutat. 2009 Feb;30(2):212-20. doi: 10.1002/humu.20830. Hum Mutat. 2009. PMID: 18767138

7

Association between MTHFD1 polymorphisms and neural tube defect susceptibility.

Meng J, Han L, Zhuang B. Meng J, et al. J Neurol Sci. 2015 Jan 15;348(1-2):188-94. doi: 10.1016/j.jns.2014.12.001. Epub 2014 Dec 6. J Neurol Sci. 2015. PMID: 25524527

8

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. Christensen KE, et al. Birth Defects Res A Clin Mol Teratol. 2015 Dec;103(12):1031-8. doi: 10.1002/bdra.23451. Epub 2015 Sep 26. Birth Defects Res A Clin Mol Teratol. 2015. PMID: 26408344

9

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. Beaudin AE, et al. Am J Clin Nutr. 2012 Apr;95(4):882-91. doi: 10.3945/ajcn.111.030783. Epub 2012 Feb 29. Am J Clin Nutr. 2012. PMID: 22378735 Free PMC article.

10

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. Christensen KE, et al. J Nutr. 2018 Apr 1;148(4):501-509. doi: 10.1093/jn/nxy013. J Nutr. 2018. PMID: 29659962 Free article.

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