Citations for
1MTHFD1, MTHFD1D
Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband.
Watkins D, Schwartzentruber JA, Ganesh J, Orange JS, Kaplan BS, Nunez LD, Majewski J, Rosenblatt DS.
J Med Genet 48(9):590-2. Epub 2011 Aug 3. 2011
2MTHFD1
The MTHFD1 c.1958 G>A polymorphism and recurrent spontaneous abortions.
Crişan TO, Trifa A, Farcaş M, Militaru M, Netea M, Pop I, Popp R.
J Matern Fetal Neonatal Med 24(1):189-92. Epub 2010 Mar 24. 2011
3MTHFD1, MTHFD1L, MTHFD2
Mitochondrial C1-tetrahydrofolate synthase (MTHFD1L) supports the flow of mitochondrial one-carbon units into the methyl cycle in embryos.
Pike ST, Rajendra R, Artzt K, Appling DR.
J Biol Chem 285(7):4612-20. Epub 2009 Nov 30. 2010
4MTHFD1
Association analysis of CbetaS 844ins68 and MTHFD1 G1958A polymorphisms with Alzheimer's disease in Chinese.
Bi XH, Zhao HL, Zhang ZX, Liu Q, Zhang JW.
J Neural Transm 117(4):499-503. Epub 2010 Mar 9. 2010
5MTHFD1
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 um Genet. 2009 Jan 8. [Epub ahead of print] 2009
6MTHFD1
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 30(2):212-20. 2009
7AHCY, FOLH1, MTHFD1, MTR, NNMT, PON1, TYMS
Genetic analysis of 56 polymorphisms in 17 genes involved in methionine metabolism in patients with abdominal aortic aneurysm.
Giusti B, Saracini C, Bolli P, Magi A, Sestini I, Sticchi E, Pratesi G, Pulli R, Pratesi C, Abbate R.
J Med Genet 45(11):721-30. Epub 2008 Jul 17. 2008
8MTHFD1
MTHFD 1958G>A and MTR 2756A>G polymorphisms are associated with bipolar disorder and schizophrenia.
Kempisty B, Sikora J, Lianeri M, Szczepankiewicz A, Czerski P, Hauser J, Jagodzinski PP.
Psychiatr Genet 17(3):177-81. 2007
9MTHFD1
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 14(6):768-72. 2006
10MTHFR, MTHFD1, NAP1L2, SLC19A1, TFAP2A
Candidate gene analysis in human neural tube defects.
Boyles AL, Hammock P, Speer MC.
Am J Med Genet C Semin Med Genet 135(1):9-23. 2005
11MTHFD1
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, et al.
Clin Genet 53 : 119-125. 1998
12THFC, MTHFD1, MTHFD1P1
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 44 : 781-786. 1989
13MTHFD1, THFC
Intractable epilepsy in infancy with hyperfolic acidemia, not associated with megaloblastic anemia.
Inagaki M, Asano J, Ando Y, Takakura H.
Jpn J Psychiatry Neurol 43(3):492-4. Review. No abstract available. 1989
14MTHFD1
Primary structure of a human trifunctional enzyme. Isolation of a cDNA encoding methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase.
Hum DW, Bell AW, Rozen R, MacKenzie RE.
J Biol Chem 263(31):15946-50. 1988
15MTHFD1, THFC
Megaloblastic anemia and mental retardation associated with hyperfolic-acidemia: probably due to N5 methyltetrahydrofolate transferase deficiency.
Arakawa T, Narisawa K, Tanno K, Hirooka Y, Ono T.
Tohoku J Exp Med 93(1):1-22. No abstract available. 1967
16MTHFD1, THFC
Mental retardation with hyperfolic-acidemia not associated with formiminoglutamic-acciduria: cyclohydrolase deficiency syndrome.
Arakawa T, Fujii M, Ohara K, Watanabe S, Karahashi M, Kobayashi M, Hirono H.
Tohoku J Exp Med 88(4):341-52. No abstract available. 1966
17MTHFD1, THFC
Formiminotransferase-deficiency syndrome: a new inborn error of folic acid metabolism.
Arakawa T, Ohara K, Takahashi Y, Ogasawara J, Hayashi T, Chiba R, Wada Y, Tada K, Mizuno T, Okamura T, Yoshida T.
Ann Paediatr 205(1):1-11. No abstract available. 1965