Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.7.1.21 (thymidine kinase)
 7,561 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Seven new gene assignments were demonstrated in the baboon (Papio papio) by cosegregation analysis of twelve cell hybrids obtained between PPA fibroblasts and a mouse cell line deficient in thymidine kinase. The following markers and syntenic groups were localized : GUSB on PPA3 ; NP-MPI-PKM2-IDH2 on PPA7; ADA on PPA10 and IDH1 on PPA12. These results are consistent with the following homoeologies of PPA and HSA chromosomes : PPA3-HSA7 ; PPA7-HSA14 and 15 ; PPA10-HSA20 and PPA12-HSA2q
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PMID:Comparative gene mapping of the baboon (Papio papio) and man. 697 94

The nature of the defect of a female baby who died of severe combined immunodeficiency (SCID) disease associated with adenosine deaminase deficiency (ADA-) was investigated. Since tissue or tissue culture material was not available for subsequent studies, the expression of ADA in her cells was investigated in the somatic cell hybrid clones derived from a fusion between the lymphocytes from one of her two obligate heterozygote parents and thymidine kinase deficient Chinese hamster (a3) fibroblasts. The results of analyses of the human chromosomes and biochemical markers in 12 independent clones and 27 subclones indicated that the ADA deficiency in the patient is determined probably by a mutation in the structural gene for ADA in chromosome 20 leading either to the production of catalytically defective molecules or to the cessation of the production of ADA. Incidentally, the involvement of chromosome 2, which carries a gene for adenosine deaminase complexing protein (ADCP), in the causation of ADA deficiency was excluded. The in vitro approach through the cells from an obligate heterozygote described in this paper may have a general application in pursuing studies on other cases of inborn errors of metabolism whenever the material from the affected individuals (i.e., the homozygotes) is not available or not suitable for direct investigations.
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PMID:Basic defect in the expression of adenosine deaminase in ADA- SCID disease investigated through the cells of an obligate heterozygote. 723 21

The level of thymidine kinase activity in the premature leukocytes of patients with chronic myeloleukemia during the stable phase was shown to serve as a measure of the disease development. Considerable variations in thymidine kinase activity in blast cells in myeloid and lymphoid blast crises demonstrated that analysis of the enzyme activity might be used in the biochemical diagnosis of blast crisis in chronic myeloleukemia simultaneously with the enzymes of purine metabolism--ADA and PNP. During cell differentiation, the activity of thymidine kinase was decreased and in the myeloid cells the enzymatic activity was much higher of that in lymphoid cells as shown by investigations using blast cells of patients with blast crisis in chronic myeloleukemia, cells K-562, thymocytes, spleen and peripheric blood lymphocytes. Isozyme thymidine kinase I was mainly responsible for the rate of enzymatic activity in premature leukocytes of patients with chronic myeloleukemia regardless of the disease stage.
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PMID:[Thymidine kinase activity in leukocytes from patients with chronic myeloid leukemia at various periods in the disease]. 812 6

The use of retroviral-mediated gene transfer to introduce a DNA label into T cells (TIL) being used in the immunotherapy of patients with malignant melanoma finally opened the door to the clinical application of gene therapy for a wide variety of inherited and acquired diseases. The gene therapy trial for ADA deficiency SCID has demonstrated that long term stable expression of exogenous genes can be achieved in human T lymphocytes using retroviral vectors for ex vivo treatment and that significant immune reconstitution can be achieved in these patients following periodic infusions with ADA gene-corrected autologous T cells. Newer clinical applications include the insertion of genes into CD34 enriched stem cell populations, the testing of autologous tumor vaccines employing cytokine gene-modified tumor cells and the direct transfer of the herpes thymidine kinase gene into brain tumors in situ in order to render those tumors sensitive to treatment with the ordinarily non-cytotoxic drug ganciclovir.
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PMID:Strategies for gene therapy. 829 Mar 10

Increased activities of some enzymes, which participate in pyrimidine and purine salvage pathway, were found in blood fractions of patients suffering from different autoimmunological diseases, thyroid diseases included. The aim of the study was to estimate the expression of genes, specific for deoxycytidine kinase (dCK, EC 3.7.1.74), thymidine kinase 1 (TK1; EC 2.7.1.21), and adenosine deaminase (ADA, EC 3.5.4.4) in blood leukocytes, collected from patients with autoimmunological thyroid diseases (AITD), i.e., Graves' or Hashimoto's disease. The total mRNA was isolated from peripheral blood leukocytes and, afterwards, submitted to reverse transcription (RT), with the following amplification of genes encoding for particular examined enzymes and beta-actin, as a supervisory gene [RT-polymerase chain reaction (RT-PCR)]; ADA gene was amplified with the use of three different primer pairs (ADA3, ADA4, and ADA5). PCR products were electrophoresed in 8% polyacrylamide gel and then, submitted to densitometric analysis. The levels of expression of all the examined genes in leukocytes from patients with either Graves' or Hashimoto's disease were significantly increased when compared to those in controls; above a twofold elevation of expression of TK1, ADA4, and ADA5 genes was observed. In conclusion, the changes of activities of salvage enzymes in patients with AITD occur likely at transcription level; the measurement of gene expression for purine and pyrimidyne salvage enzymes may likely help explain the mechanism of autoimmune diseases, being also significant in the diagnostics and/or monitoring of AITD.
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PMID:Expression of genes for certain enzymes of pyrimidine and purine salvage pathway in peripheral blood leukocytes collected from patients with Graves' or Hashimoto's disease. 1276 88