Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency

[1]  A. B. Kuilenburg,et al.  Profound variation in dihydropyrimidine dehydrogenase activity in human blood cells: major implications for the detection of partly deficient patients , 1999, British Journal of Cancer.

[2]  P. Vreken,et al.  Nomenclature for human DPYD alleles. , 1998, Pharmacogenetics.

[3]  H. McLeod,et al.  Characterization of the human dihydropyrimidine dehydrogenase gene. , 1998, Genomics.

[4]  P. Vreken,et al.  Dihydropyrimidine dehydrogenase pharmacogenetics in Caucasian subjects. , 1998, British Journal of Clinical Pharmacology.

[5]  P. Vreken,et al.  Heterozygosity for a point mutation in an invariant splice donor site of dihydropyrimidine dehydrogenase and severe 5-fluorouracil related toxicity. , 1997, European journal of cancer.

[6]  S. Antonarakis.  Recommendations for a nomenclature system for human gene mutations , 1998 .

[7]  P. Vreken,et al.  Dihydropyrimidine dehydrogenase (DPD) deficiency: identification and expression of missense mutations C29R, R886H and R235W , 1997, Human Genetics.

[8]  P. Vreken,et al.  Identification of a four-base deletion (delTCAT296–299) in the dihydropyrimidine dehydrogenase gene with variable clinical expression , 1997, Human Genetics.

[9]  Martin R. Johnson,et al.  Structural organization of the human dihydropyrimidine dehydrogenase gene. , 1997, Cancer research.

[10]  A. V. van Kuilenburg,et al.  Subcellular Localization of Dihydropyrimidine Dehydrogenase , 1997, Biological chemistry.

[11]  P. Vreken,et al.  Heterozygosity for a point mutation in an invariant splice donor site of dihydropyrimidine dehydrogenase and severe 5-fluorouracil related toxicity. , 1997, European journal of cancer.

[12]  J. Idle,et al.  Lack of correlation between phenotype and genotype for the polymorphically expressed dihydropyrimidine dehydrogenase in a family of Pakistani origin. , 1997, Pharmacogenetics.

[13]  A. Draguhn,et al.  Effects of γ‐aminobutyric acid (GABA) agonists and GABA uptake inhibitors on pharmacosensitive and pharmacoresistant epileptiform activity in vitro , 1996, British journal of pharmacology.

[14]  H. McLeod,et al.  Molecular basis of the human dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicity. , 1996, The Journal of clinical investigation.

[15]  H. Simmonds,et al.  Pyrimidines and CNS regulation. , 1996, Trends in pharmacological sciences.

[16]  R. Diasio,et al.  cDNA cloning of bovine liver dihydropyrimidine dehydrogenase. , 1996, DNA sequence : the journal of DNA sequencing and mapping.

[17]  F. Gonzalez,et al.  Diagnostic analysis, clinical importance and molecular basis of dihydropyrimidine dehydrogenase deficiency. , 1995, Trends in pharmacological sciences.

[18]  R. Miledi,et al.  Activation of GABA rho 1 receptors by glycine and beta-alanine. , 1995, Neuroreport.

[19]  R. Miledi,et al.  Activation of GABAp1 receptors by glycine and ??-alanine , 1995 .

[20]  A. V. van Kuilenburg,et al.  Human polymorphism in drug metabolism: mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine uracilurea. , 1995, DNA and cell biology.

[21]  S. Takai,et al.  Assignment of the human dihydropyrimidine dehydrogenase gene (DPYD) to chromosome region 1p22 by fluorescence in situ hybridization. , 1994, Genomics.

[22]  Frank,et al.  cDNA cloning and chromosome mapping of human dihydropyrimidine dehydrogenase, an enzyme associated with 5-fluorouracil toxicity and congenital thymine uraciluria. , 1994, The Journal of biological chemistry.

[23]  T. Spector,et al.  Dihydropyrimidine dehydrogenase. Kinetic mechanism for reduction of uracil by NADPH. , 1993, The Journal of biological chemistry.

[24]  R. Diasio,et al.  Comparison of dihydropyrimidine dehydrogenase from human, rat, pig and cow liver. Biochemical and immunological properties. , 1993, Biochemical pharmacology.

[25]  D. Farb,et al.  Dual activation of GABAA and glycine receptors by β-alanine : inverse modulation by progesterone and 5α-pregnan-3α-ol-20-one , 1993 .

[26]  S. Oja,et al.  Uptake and release of β-alanine in cerebellar granule cells in primary culture: Regulation of release by glutamatergic and gabaergic receptors , 1993, Neuroscience.

[27]  L. Elzinga,et al.  Application of simple chromatographic methods for the diagnosis of defects in pyrimidine degradation. , 1993, Clinical chemistry.

[28]  R. Diasio,et al.  Purification and characterization of dihydropyrimidine dehydrogenase from human liver. , 1992, The Journal of biological chemistry.

[29]  T. Rauen,et al.  Neuronal and glial γ‐aminobutyric acid+ transporters are distinct proteins , 1992 .

[30]  T. Spector,et al.  Inactivation of dihydropyrimidine dehydrogenase by 5-iodouracil. , 1991, The Journal of biological chemistry.

[31]  Y. Yuasa.  [Point mutation]. , 2019, Nihon rinsho. Japanese journal of clinical medicine.

[32]  P. Cook,et al.  Kinetic mechanism of dihydropyrimidine dehydrogenase from pig liver. , 1990, The Journal of biological chemistry.

[33]  D. Mathers,et al.  β-Alanine induced ion channels in the membrane of cultured spinal cord neurons , 1990, Neuroscience Letters.

[34]  K. Schnackerz,et al.  Purification and characterization of dihydropyrimidine dehydrogenase from pig liver. , 1989, European journal of biochemistry.

[35]  M. Kihara,et al.  Release by Electrical Stimulation of Endogenous Glutamate, γ‐Aminobutyric Acid, and Other Amino Acids from Slices of the Rat Medulla Oblongata , 1989, Journal of neurochemistry.

[36]  K. Yanagisawa,et al.  Taurine and beta-alanine act on both GABA and glycine receptors in Xenopus oocyte injected with mouse brain messenger RNA. , 1988, Brain research.

[37]  H. Korn,et al.  Does β-alanine activate more than one chloride channel associated receptor? , 1988, Neuroscience Letters.

[38]  R. Diasio,et al.  Clinical pharmacokinetics of 5-fluorouracil and its metabolites in plasma, urine, and bile. , 1987, Cancer research.

[39]  F. Gabreëls,et al.  Dihydropyrimidine dehydrogenase deficiency Neurological aspects , 1987, Journal of the Neurological Sciences.

[40]  G. Bodey,et al.  Distribution and inhibition of dihydrouracil dehydrogenase activities in human tissues using 5-fluorouracil as a substrate. , 1986, Anticancer research.

[41]  F N Naguib,et al.  Enzymes of uracil catabolism in normal and neoplastic human tissues. , 1985, Cancer research.

[42]  F. Gabreëls,et al.  Elevated urine, blood and cerebrospinal fluid levels of uracil and thymine in a child with dihydrothymine dehydrogenase deficiency. , 1984, Clinica chimica acta; international journal of clinical chemistry.

[43]  P. Kontro.  β-Alanine uptake by mouse brain slices , 1983, Neuroscience.

[44]  N. Kemeny,et al.  Neurotoxicity of the pyrimidine synthesis inhibitor N‐phosphonoacetyl‐L‐aspartate , 1982, Annals of neurology.

[45]  M. Sandberg,et al.  β‐ Alanine, a Possible Neurotransmitter in the Visual System? , 1981, Journal of neurochemistry.

[46]  G. Weber,et al.  Purification and properties of dihydrothymine dehydrogenase from rat liver. , 1981, The Journal of biological chemistry.

[47]  P. Wiernik,et al.  Clinical phase I-II and pharmacokinetic study of high-dose thymidine given by continuous intravenous infusion. , 1980, Cancer research.

[48]  W. Hsiao,et al.  Effects of natural pyrimidines and of certain related compounds on the spontaneous activity of the mouse. , 1978, The Journal of pharmacology and experimental therapeutics.

[49]  J. Kelly,et al.  Selective uptake of [3H]β-alanine by glia: Association with the glial uptake system for GABA , 1975, Brain Research.

[50]  V. Dhumal,et al.  ANALYSIS OF THE EFFECTS ON BODY TEMPERATURE OF INTRACEREBROVENTRICULAR INJECTION IN ANAESTHETIZED DOGS OF GAMMA‐AMINOBUTYRIC ACID , 1974, British journal of pharmacology.

[51]  C. A. Roberts,et al.  Anticonvulsant effects of uridine: comparative analysis of metrazol and penicillin induced foci. , 1973, Brain research.