1 | MTHFD1, MTHFD1D
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| Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband.
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| Watkins D, Schwartzentruber JA, Ganesh J, Orange JS, Kaplan BS, Nunez LD, Majewski J, Rosenblatt DS.
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| J Med Genet 48(9):590-2. Epub 2011 Aug 3.
2011
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2 | MTHFD1
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| The MTHFD1 c.1958 G>A polymorphism and recurrent spontaneous abortions.
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| Crişan TO, Trifa A, Farcaş M, Militaru M, Netea M, Pop I, Popp R.
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| J Matern Fetal Neonatal Med 24(1):189-92. Epub 2010 Mar 24.
2011
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3 | MTHFD1, MTHFD1L, MTHFD2
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| Mitochondrial C1-tetrahydrofolate synthase (MTHFD1L) supports the flow of mitochondrial one-carbon units into the methyl cycle in embryos.
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| Pike ST, Rajendra R, Artzt K, Appling DR.
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| J Biol Chem 285(7):4612-20. Epub 2009 Nov 30.
2010
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4 | MTHFD1
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| Association analysis of CbetaS 844ins68 and MTHFD1 G1958A polymorphisms with Alzheimer's disease in Chinese.
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| Bi XH, Zhao HL, Zhang ZX, Liu Q, Zhang JW.
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| J Neural Transm 117(4):499-503. Epub 2010 Mar 9.
2010
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5 | MTHFD1
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| Analysis of the MTHFD1 promoter and risk of neural tube defects.
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| Carroll N, Pangilinan F, Molloy AM, Troendle J, Mills JL, Kirke PN, Brody LC, Scott JM, Parle-McDermott A.
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| Hum Genet um Genet. 2009 Jan 8. [Epub ahead of print]
2009
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6 | MTHFD1
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| The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects.
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| Christensen KE, Rohlicek CV, Andelfinger GU, Michaud J, Bigras JL, Richter A, Mackenzie RE, Rozen R.
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| Hum Mutat 30(2):212-20.
2009
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7 | AHCY, FOLH1, MTHFD1, MTR, NNMT, PON1, TYMS
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| Genetic analysis of 56 polymorphisms in 17 genes involved in methionine metabolism in patients with abdominal aortic aneurysm.
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| Giusti B, Saracini C, Bolli P, Magi A, Sestini I, Sticchi E, Pratesi G, Pulli R, Pratesi C, Abbate R.
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| J Med Genet 45(11):721-30. Epub 2008 Jul 17.
2008
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8 | MTHFD1
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| MTHFD 1958G>A and MTR 2756A>G polymorphisms are associated with bipolar disorder and schizophrenia.
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| Kempisty B, Sikora J, Lianeri M, Szczepankiewicz A, Czerski P, Hauser J, Jagodzinski PP.
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| Psychiatr Genet 17(3):177-81.
2007
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9 | MTHFD1
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| Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population.
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| Parle-McDermott A, Kirke PN, Mills JL, Molloy AM, Cox C, O'Leary VB, Pangilinan F, Conley M, Cleary L, Brody LC, Scott JM.
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| Eur J Hum Genet 14(6):768-72. 2006
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10 | MTHFR, MTHFD1, NAP1L2, SLC19A1, TFAP2A
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| Candidate gene analysis in human neural tube defects.
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| Boyles AL, Hammock P, Speer MC.
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| Am J Med Genet C Semin Med Genet 135(1):9-23. 2005
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11 | MTHFD1
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| Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects.
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| Hol FA, et al.
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| Clin Genet 53 : 119-125. 1998
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12 | THFC, MTHFD1, MTHFD1P1
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| Chromosomal localization of the gene for the human trifunctional enzyme,methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase.
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| Rozen R, Barton D, Du J, Hum DW, MacKenzie RE, Francke U.
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| Am J Hum Genet 44 : 781-786. 1989
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13 | MTHFD1, THFC
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| Intractable epilepsy in infancy with hyperfolic acidemia, not associated with megaloblastic anemia.
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| Inagaki M, Asano J, Ando Y, Takakura H.
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| Jpn J Psychiatry Neurol 43(3):492-4. Review. No abstract available.
1989
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14 | MTHFD1
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| Primary structure of a human trifunctional enzyme. Isolation of a cDNA encoding methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase.
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| Hum DW, Bell AW, Rozen R, MacKenzie RE.
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| J Biol Chem 263(31):15946-50.
1988
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15 | MTHFD1, THFC
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| Megaloblastic anemia and mental retardation associated with hyperfolic-acidemia: probably due to N5 methyltetrahydrofolate transferase deficiency.
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| Arakawa T, Narisawa K, Tanno K, Hirooka Y, Ono T.
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| Tohoku J Exp Med 93(1):1-22. No abstract available.
1967
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16 | MTHFD1, THFC
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| Mental retardation with hyperfolic-acidemia not associated with formiminoglutamic-acciduria: cyclohydrolase deficiency syndrome.
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| Arakawa T, Fujii M, Ohara K, Watanabe S, Karahashi M, Kobayashi M, Hirono H.
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| Tohoku J Exp Med 88(4):341-52. No abstract available.
1966
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17 | MTHFD1, THFC
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| Formiminotransferase-deficiency syndrome: a new inborn error of folic acid metabolism.
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| Arakawa T, Ohara K, Takahashi Y, Ogasawara J, Hayashi T, Chiba R, Wada Y, Tada K, Mizuno T, Okamura T, Yoshida T.
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| Ann Paediatr 205(1):1-11. No abstract available.
1965
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