Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004135 (ATM)
 13,001 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A non-Hodgkin's lymphoma was observed in a patient who had been treated for Hodgkin's disease (HD). The initial treatment consisted of radiotherapy alone, but following three subsequent relapses, both chemotherapy and radiotherapy were administered several times. Twenty years later, the biopsy of an isolated cervical lymph node revealed a non-Hodgkin's lymphoma. The histologic subtype was immunoblastic. Cytogenetic studies of the tumoral cells revealed a t(8;14)(q24;q32) translocation. At the same time, multiple chromosomal rearrangements were observed in peripheral blood lymphocytes, especially t(7;14)(q35;q12), which was noted in 6 of 53 mitoses. This anomaly, frequently observed in patients with ataxia telangiectasia or severe immunodeficiency, has not previously been described in such circumstances.
Cancer Genet Cytogenet 1985 Sep
PMID:Immunoblastic lymphoma following Hodgkin's disease: a case report with translocation t(8;14) in tumoral cells and sporadic t(7;14) in peripheral lymphocytes. 387 98

Methylnitronitrosoguanidine (MNNG) is reported to inhibit DNA synthesis in intact human cells, in the cells from patients with ataxia telangiectasia (AT) or the cells from two rodent species. DNA synthesis in different cell lines exhibits varying sensitivity to MNNG inhibitory effect. 4-5-fold higher concentrations of MNNG are required for 50% inhibition of DNA synthesis in AT cells or in field vole cells as compared with the concentration required for human cells or Chinese hamster. The different compactness of two chromatin fractions might possibly result in lower sensitivity of DNA synthesis in heterochromatin to MNNG-induced inhibition as compared with the sensitivity of euchromatin. The genetic expression of AT defect on the cellular level is supposed to be connected with changes in supramolecular packaging of chromatin in interphase nuclei.
Mol Gen Mikrobiol Virusol 1985 Sep
PMID:[The effect of methylnitronitrosoguanidine on DNA synthesis in human and animal cells. Inhibition of DNA synthesis in asynchronous and synchronous cultured cells]. 391 33

Normal and ataxia telangiectasia (AT) human cells were exposed to 10(-5) mole/liter bromodeoxyuridine (BrdUrd) or iododeoxyuridine (IdUrd). High-pressure liquid chromatography (HPLC) measurements showed that up to 26 and 23% of the thymidine in DNA was substituted by BrdUrd in normal and AT cells, respectively. The incorporation of BrdUrd or IdUrd into DNA resulted in radiosensitization in normal and AT cells. When exposed to equal concentrations of BrdUrd and IdUrd, the BrdUrd caused greater radiosensitization than IdUrd in both normal and AT cells.
Radiat Res 1985 Sep
PMID:Ataxia telangiectasia cells exhibit the same radiosensitization response by incorporation of BrdUrd or IdUrd as do normal human cells. 403 38

We report two cases of ataxia telangiectasia in which a small number of T cells and a slightly diminished response to phytohaemagglutinin or concanavalin A were observed. In one case, serum IgA was undetectable. In spite of T and/or B cell involvement, natural killer activity and the percentage of natural killer cells determined by monoclonal antibodies Leu 7 were normal in both cases.
Acta Paediatr Scand 1985 Sep
PMID:Natural killer activity in two cases of ataxia telangiectasia. 405 Apr 31

An improved chemically defined medium, CMRL-1415, has been devised by testing the response of trypsinized, newly explanted mouse embryo cells in stationary cultures to various modifications of an earlier medium, CMRL-1066. The improvements are attributed to changes in amino acid levels, in the vitamin-coenzyme composition, and to an enhanced buffering capacity resulting from the use of free base amino acids, galactose and pyruvate, together with greatly reduced levels of glucose and sodium bicarbonate and the inclusion of both monobasic and dibasic sodium phosphate in the ratio 1:4. When the medium is equilibrated with 5% CO(2) in air, an initial pH of 7.2-7.4 is achieved, with excellent buffering capacity. CMRL-1415 contains 50 ingredients (9 fewer than CMRL-1066) and is prepared from six stable stock concentrates. By omitting sodium bicarbonate (to give CMRL-1415-ATM), the medium may be used in unsealed cultures in free gas exchange with air. CMRL-1415 and CMRL-1415-ATM are intended for use with and without serum protein and other supplements; and by preparing them double strength they may be combined with agar or other gelling agents to provide a semi-solid substrate.
J Cell Biol 1966 Sep
PMID:An improved chemically defined basal medium (CMRL-1415) for newly explanted mouse embryo cells. 597 Oct 5

Alpha- and gamma-interferon (IFN) production by peripheral blood mononuclear cells (PBMC) from 18 patients affected by primary immunodeficiency syndromes was examined and compared with that of 20 normal donors. Patients included 8 with common variable immunodeficiency (CVI), 2 with congenital agammaglobulinemia, 4 with ataxia-telangiectasia, 2 with hyper-IgE syndrome, 1 with chronic EBV infection, 1 with combined immunodeficiency, and 1 with immunodeficiency with hyper-IgM. No spontaneous IFN production was observed in either patients and controls. Newcastle disease virus-induced alpha-IFN production was found to be normal in all patients. Gamma-IFN was induced by both galactose oxidase and staphylococcal enterotoxin (B). Gamma-interferon production was low or undetectable in patients with ataxia-telangiectasia, in immunodeficiency with hyper-IgM, and in hyper-IgE syndrome. No major defect of gamma-IFN was found in other types of immunodeficiency, despite the presence of occasional low producers (1 of 8 CVI patients and 1 case of congenital agammaglobulinemia). No correlation was found between IFN production and natural killer activity in individual patients. The analysis of lymphocyte subsets by monoclonal antibodies revealed gross imbalances of helper/inducer and suppressor/cytotoxic subpopulations, but no overall correlation could be established with gamma-IFN production. The observation of major defects in gamma-IFN yield only in diseases with depression of T cell-mediated immunity might contribute to a better understanding of the pathogenetical mechanisms in these diseases. Moreover, future studies should monitor these in vitro functions and their modifications by in vitro or in vivo manipulations.
J Clin Immunol 1984 Sep
PMID:Interferon production in primary immunodeficiencies. 609 14

Ataxia-telangiectasia (AT) is a genetic disorder of unknown pathogenesis, with primary effects on the immune and nervous systems. The presence of a fetal-like thymus and elevated alpha-fetoprotein (alpha FP) levels in patients with AT suggests that suppressed mesodermal development may be a factor in the development of this disease. We investigated this hypothesis by using electrophoretic and quantitative analyses to test for the presence of other fetal proteins in mesodermal tissues. With the exceptions of alpha FP and carcinoembryonic antigen, all other proteins assessed in these patients were present at levels or in isozymic patterns characteristic of a normal, nonfetal state.
JAMA 1982 Sep 17
PMID:Fetal proteins in ataxia-telangiectasia. 618 Jan 90

Ataxia telangiectasia (AT) is an autosomal recessive disorder in which increased level of chromosome breakage and specific sensitivity to radiation and carcinogens have been reported. The effect of the radiomimetic drug bleomycin on chromosome breakage has been tested in skin fibroblasts of three patients with AT, two AT obligate heterozygotes, two normal human controls, and one normal amniotic fluid cell culture. Bleomycin in two concentrations (1 and 5 micrograms/ml) was added for 1 hr and cultures were harvested 4 hr later. A significant increase in chromosome damage was found in AT fibroblasts: a higher number of total breaks per cell, affected cells, and breaks per affected cell was found. The heterozygotes did not differ significantly from the controls. Chromosome breakage in skin fibroblasts of AT patients after bleomycin treatment has not been reported before.
Cancer Res 1983 Sep
PMID:Increased level of bleomycin-induced chromosome breakage in ataxia telangiectasia skin fibroblasts. 619 60

Neocarzinostatin (NCS) is an acidic, single-chain polypeptide of 109 amino acids that has shown some antitumor activity in clinical trials. NCS is mutagenic in recA+ strains of Escherichia coli, but not in recA strains; on the other hand, a defect in the nucleotide-excision-repair pathway has no effect on the mutagenicity of NCS in E. coli. Similar results are seen in mammalian cells. Excision-repair-deficient xeroderma pigmentosum (XP) cells repair NCS-induced DNA damage at the same rate as repair-proficient XP heterozygotes, and X-ray-sensitive ataxia telangiectasia fibroblasts are also sensitive to NCS. I have investigated the mutagenicity of NCS in the ad-3 forward-mutation test in nucleotide excision-repair-sufficient and -deficient heterokaryons of Neurospora crassa. Resting conidia from a repair-sufficient strain, H-12, and a nucleotide-excision-repair-deficient strain (uvs-2) H-59, were exposed to NCS. These conidia were assayed for survival and ad-3 forward mutation. The results show that H-59 is more sensitive to the killing and mutagenic activities of NCS than is H-12. These data indicate, in contrast to E. coli and mammalian cells, that the nucleotide-excision-repair pathway of N. crassa does repair NCS-induced lesions. In other experiments, ad-3 mutants induced by NCS in H-59 were characterized to determine the spectrum of NCS-induced mutation. The results show that NCS induces both intracistronic mutations and multilocus deletions in H-59.
Mutat Res 1984 Sep
PMID:Mutagenicity of neocarzinostatin in Neurospora crassa. 623 65

Hypersensitivity to the lethal effects of DNA-damaging agents is usually demonstrated using the classical colony-forming ability assay with cultured fibroblast lines. Based on the ability of viable cells in lymphoblastoid lines (Epstein-Barr virus-transformed B lymphocytes) to exclude the vital dye trypan blue, we have developed a more rapid survival assay which has been useful in detecting hypersensitivity to ionizing radiation in certain diseases characterized by primary degeneration of excitable tissue. We now present a complete description of this post-X-ray survival assay. We also demonstrate the suitability of both our assay and our method of data analysis for detecting hypersensitivity to ionizing radiation. This demonstration is based on a detailed analysis of assay results with lymphoblastoid lines from 28 normal donors, 3 ataxia telangiectasia (AT) patients, 2 obligate AT heterozygotes, 7 patients with diseases characterized by cellular hypersensitivity to ultraviolet radiation (UV), and 10 Duchenne muscular dystrophy (DMD) patients.
J Neurol Sci 1984 Sep
PMID:A sensitive assay for detecting hypersensitivity to ionizing radiation in lymphoblastoid lines from patients with Duchenne muscular dystrophy and primary neuronal degenerations. 633 87


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