Works Cited

Home Folate pathway Initial Discovery Clinical Aspects Gene Cloning Chromosome Locus Gene Structure Inheritance Mutation & Frequency Protein Properties Diagnosis&Treatment Works Cited MTHFR Links

M., Mack, C.M. Wehr, J. T. MacGregor, R.A. Hiatt, G. Wang, S. N. Wickramasinghe, R. B. Everson, & B. N. Ames.  Folate deficiency causes uracil misincorportaion into human DNA and chromosome breakage:  Implications for cancer and neuronal damage.  Proceedings of the National Academy of Science 94, 3290-3295 (1997).

Botto, L.D. & Q. Yang.  5, 10-Methylenetetrahydrofolate Reductase Gene Variants and Congenital Anomalies:  a HuGE Review.  American Journal of Epidemiology 151, 862-877 (2000).

Chen L.H., M.L Liu, H.Y. Hwang, L.S. Chen, J. Korenberg, and B. Shane.  Human methionine synthase:   cDNA cloning, gene localization, and expression.  Journal of Biological Chemistry 7, 3628-3634 (1997).  

Dockhorn-Dworniczak, B. et al Non-isotopic detection of single strand conformation polymorphism (PCR-SSCP): a rapid an sensitive technique in diagnosis of phenylketonuria.  Nucleic Acids Research 19, 2500 (1991).

Fowler, B. & C. Jakobs.  Post- and prenatal diagnostic methods for the homocystinurias.  European Journall of Pediatrics, 157, S88-93 (1998). 

Frosst, P., H.J. Blom, R. Milos, et al.  A candidate genetic risk factor for vascular disease:  a common mutation in methylenetetrahydrofolate reductase  Nature Genetics 10, 111-113 (1995).

Goyette, P., J. S. Sumner, R. Milos, A. M. V. Duncan, D. S. Rosenblatt, R. G. Matthews, & R. Rozen.  Human methylenetetrahydrofolate reductase:  isolation of cDNA, mapping, and mutation identification.  Nature Genetics 7, 195-200 (1994). 

Goyette, P., P. Frosst, D. S. Rosenblatt, & R. Rozen. Seven Novel Mutations in the Methylenetetrahydrofolate Reductase Gene and Genotype/Phenotype Correlations in Severe Methylenetetrahydrofolate Reductase Deficiency.  American Journal of Human Genetics 56, 1052-1059 (1995). 

Goyettte, P., A. Pai, R. Milos, P. Frosst, P. Tran, Z. Chen, M. Chan, R. Rozen.  Gene structure of human and mouse methylenetetrahydrofolate reductase (MTHFR).  Mammalian Genome 9, 652-656 (1998)


Guenther, B.D. , C.A. Sheppard, P. Tran, R. Rozen, R.G. Matthews, and M.L. Ludwig.  The structure and properties of methylenetetrahydrofolate reductase from Escherichia coli suggest how folate ameliorates human hyperhomcyseinmia.  Nature Structural Biology 6, 359-365 (1999).

Haan, E. A., J. G. Rogers, G.P. Lweis, & P.B. Rowe.  5,10-Methylenetetrahydrofolate reductase deficiency.  Clinical and biochemical features of a further case.  Journal of Inherited Metabolic Disorders  8, 53-75 (1985). 

Homberger. A., M. Linnebank, c. Winter, H. Willenbring, T. Marquard, E. Harms, & H. G. Koch.  Genomic structure and transcript variants of the human methylenetetrahydrofolate reductase gene.  European Journal of Human Genetics  8, 725-729 (2000).

Kraus, J. P., J. Oliveriusova, J. Sokolova et al.  The human cystathionine Beta-syntahse (CBS) gene: Complete sequence, alternative splicing, and polymorphisms.  Genomics 52, 312-314 (1998). 

Kutzbach, C. and E.L.R. Stokstad.  Mammalian methylenetetrahydrofolate reductase:  partial purification, properties, and inhibition by S-adenosymethionine.  Biochim. Biophys. Acta 250, 459-477 (1971).

Ma, J., M. J. Stampfer, E. Giovannucci, C. Artigas, D. J. Hunter, C. Fuchs, W. C. Willett, J. Selhub, C. H. Hennekens, & R. Rozen.  Methylenetetrahydrofolate reductase polymorphism, dietary interactions, and risk of colorectal cancer.  Cancer Research 57, 1098-1102 (1997).

Matthews, R. G. Methylenetetrahydrofolate reductase from pig liver. Methods in Enzymology 122, 372-381 (1986).

Mudd, S. H., B. W. Uhlendorf, J. M. Freeman, J. D. Finkelstein, & V. E. Shih.  Homocystinuria associated with decreased methylenetetrahydrofolate reductase activity.  Biochemical and Biophysical Research Communications 46, 905-912 (1972). 

Orita, M., Y. Suzuki, T. Sekiya, & K. Hayashi.  Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5, 8874-8879 (1989).

Ou, C. Y., R.E. Stevenson, V. K. Brown, C. E. Schwarts, W. P. Allen, M. J. Khoury, R. Rozen, G.P. Oakley Jr., and M.J. Adams Jr.  5, 10-Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects.  American Journal of Medical Genetics 63, 610-614 (1996). 

Rosenblatt, D.S. & R. W. Erbe Methylenetetraydrofolate Reductase in Cultured Human cells.  II.  Genetic and Biochemical Studies of Methylenetetrahydrofolate Reductase Deficiency.  Pediatric Research 11, 1141-1143 (1977).

Rosenblatt, D. S.  Inherited disorders of folate transport and metabolism.  In The Metabolic Basis of Inherited Disease (eds Scriver, C.R., Beaudet, A.L., Sly, W. S., & Valle, D.) 2049-2063 (McGraw-Hill, New York, 1989). 

Rozen, R. Molecular genetics of methylenetetrahydrofolate reductase deficiency.  Journal of Inherited Metabolic Disorders 19, 589-594 (1996).

Tonetti, C., A. Burtscher, D. Bories, M. Tulliez, & J. Zittoun. Methelenetetrahydrofolate Reductase Deficiency in Four Siblings:  A Clinical, Biochmical and Molecular Study of the Family  American Journal of Medical Genetics 91, 363-367 (2000).

Van der Put, N. M. J. F. Gabreels, E. M. B. Stevens, J. A. M. Smeitink, F. J. M. Trijbels, T. K. A. B. Eskes, L. P. van den Heuvel, & H. J. Blow.  A Second Common Mutation in the Methylenetetrahydrofolate Reductase Gene:  An Additional Risk Factor for Neural-Tube Defects?  American Journal of Human Genetics 62, 1044-1051 (1998).