Gene Review:
MTHFD1 - methylenetetrahydrofolate dehydrogenase...
Homo sapiens
Synonyms:
C-1-tetrahydrofolate synthase, cytoplasmic, C1-THF synthase, MTHFC, MTHFD
- Gene expression profiling of hereditary exencephaly in chickens. Jaszczak, K., Sazanov, A.A., Sacharczuk, M., Korczak, M., Sazanova, A.L., Parada, R., Malewski, T. Anim. Genet. (2006)
- MTHFD1 R653Q polymorphism is a maternal genetic risk factor for severe abruptio placentae. Parle-McDermott, A., Mills, J.L., Kirke, P.N., Cox, C., Signore, C.C., Kirke, S., Molloy, A.M., O'Leary, V.B., Pangilinan, F.J., O'Herlihy, C., Brody, L.C., Scott, J.M. Am. J. Med. Genet. A (2005)
- Chromosomal fragility associated with familial Alzheimer's disease. Ettinger, S., Weksler, M.E., Zhou, X., Blass, J., Szabo, P. Ann. Neurol. (1994)
- Disruption of the mthfd1 gene reveals a monofunctional 10-formyltetrahydrofolate synthetase in mammalian mitochondria. Christensen, K.E., Patel, H., Kuzmanov, U., Mejia, N.R., MacKenzie, R.E. J. Biol. Chem. (2005)
- The folate metabolic enzyme ALDH1L1 is restricted to the midline of the early CNS, suggesting a role in human neural tube defects. Anthony, T.E., Heintz, N. J. Comp. Neurol. (2007)
- DNA hypermethylation in the normal colonic mucosa of patients with colorectal cancer. Kawakami, K., Ruszkiewicz, A., Bennett, G., Moore, J., Grieu, F., Watanabe, G., Iacopetta, B. Br. J. Cancer (2006)
- A pseudogene on the X chromosome for the human trifunctional enzyme MTHFD (methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase). Italiano, C., John, S.W., Hum, D.W., MacKenzie, R.E., Rozen, R. Genomics (1991)
- 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, J.L., Signore, C.C., Molloy, A.M., Cotter, A., Conley, M., Cox, C., Kirke, P.N., Scott, J.M., Brody, L.C. Mol. Hum. Reprod. (2005)
- Maternal MTR genotype contributes to the risk of non-syndromic cleft lip and palate in the Polish population. Mostowska, A., Hozyasz, K.K., Jagodzinski, P.P. Clin. Genet. (2006)
- Enzymatic characterization of human mitochondrial C1-tetrahydrofolate synthase. Walkup, A.S., Appling, D.R. Arch. Biochem. Biophys. (2005)