Mitochondrial mutations and human disease.

abstract：:V(D)J recombinase-mediated recombination between the T-cell receptor (TCR) gamma variable (GV) genes at chromosome 7p15 and the TCR beta joining (BJ) genes at 7q35 leads to the formation of a hybrid TCR gene. These TCR gamma/beta interlocus rearrangements occur at classic V(D)J recombination signal sequences (RSS) and...

journal_title：Environmental and molecular mutagenesis

authors： Ballinger SW,Judice SA,Nicklas JA,Albertini RJ,O'Neill JP

更新日期：2002-01-01 00:00:00

abstract：:DNA is exposed to endogenous and environmental factors that can form stable lesions. If not repaired, these lesions can lead to transcription/replication blocking or mutagenic bypass. Our previous work has focused on 8,5'-cyclopurine 2'-deoxyribonucleosides, a unique class of oxidatively induced DNA lesions that are s...

journal_title：Environmental and molecular mutagenesis

authors： Abraham J,Brooks PJ

更新日期：2011-05-01 00:00:00

abstract：:Comparison of spontaneous mutation spectra derived from different transgenic constructs can provide valuable insights for interpreting the mechanisms of spontaneous mutation. In this study, spontaneous mutation frequencies and spectra of the lacI transgene are compared in the liver of C57BL/6, B6C3F1, and BC-1 mice an...

journal_title：Environmental and molecular mutagenesis

authors： Zhang S,Glickman BW,de Boer JG

更新日期：2001-01-01 00:00:00

abstract：:This study presents the first application of an in vivo alkaline comet assay using haemocytes of Drosophila melanogaster larvae. These cells, which play a role similar to that of mammalian blood, can be easily obtained and represent an overall exposure of the treated larvae. To validate the assay, we evaluated the res...

journal_title：Environmental and molecular mutagenesis

authors： Carmona ER,Guecheva TN,Creus A,Marcos R

更新日期：2011-03-01 00:00:00

abstract：:The widespread application of carbon nanotubes (CNT) on industrial, biomedical, and consumer products can represent an emerging respiratory occupational hazard. Particularly, their similarity with the fiber-like shape of asbestos have raised a strong concern about their carcinogenic potential. Several in vitro and in ...

journal_title：Environmental and molecular mutagenesis

authors： Ventura C,Sousa-Uva A,Lavinha J,Silva MJ

更新日期：2018-05-01 00:00:00

abstract：:The importance of inherited mutations as a cause of human disease has been established clearly through examples of well-defined genetic anomalies, such as Down syndrome and retinoblastoma. Furthermore, it is suspected that environmental contaminants induce mutations resulting in increased risk for such defects in subs...

journal_title：Environmental and molecular mutagenesis

authors： Narod SA,Douglas GR,Nestmann ER,Blakey DH

更新日期：1988-01-01 00:00:00

abstract：:Molindone hydrochloride is a dihydroindolone neuroleptic with dopamine D2 and D5 receptor antagonist activity. As an integral component of its preclinical safety evaluation, molindone hydrochloride was evaluated in a series of in vitro and in vivo genetic toxicology assays. In the bacterial reverse gene mutation assay...

journal_title：Environmental and molecular mutagenesis

authors： Krishna G,Gopalakrishnan G,Goel S

更新日期：2016-05-01 00:00:00

abstract：:Phosphine is an important fumigant in the grain industry and has been reported to be genotoxic in occupationally exposed fumigators. This study reports on the effects of phosphine inhalation exposure at up to, and exceeding, occupational relevant levels in a subchronic (0.3, 1.0 and 4.5 ppm, 13 weeks) and a short term...

journal_title：Environmental and molecular mutagenesis

authors： Barbosa A,Rosinova E,Dempsey J,Bonin AM

更新日期：1994-01-01 00:00:00

abstract：:Amsacrine (4'-(9-acridinylamino)methanesulphon-m-anisidide) is an antileukemic drug which inhibits topoisomerase II (topo II) enzymes. We studied effects of two concentrations of amsacrine on the GM10115A cell line. This is a Chinese hamster line containing a single human chromosome 4, which can be readily visualised ...

journal_title：Environmental and molecular mutagenesis

authors： Ferguson LR,Whiteside G,Holdaway KM,Baguley BC

更新日期：1996-01-01 00:00:00

abstract：:Polluted soil sampled from a former coking plant in Lorraine (France) was studied for its genotoxicity and reproductive effects on the Eisenia fetida earthworm. Genotoxicity was investigated by means of the single-cell gel electrophoresis (comet) assay on the coelomocytes of earthworms after 4 and 10 days of exposure ...

journal_title：Environmental and molecular mutagenesis

authors： Bonnard M,Eom IC,Morel JL,Vasseur P

更新日期：2009-01-01 00:00:00

abstract：:Molecular analysis of proaerolysin selected glycosylphosphatidylinositol anchor (GPI-a) deficient isolates in the TK6 cell line was performed. Initial studies found that the expected X-linked PIGA mutations were rare among the spontaneous isolates but did increase modestly after ethyl methane sulfate (EMS) treatment (...

journal_title：Environmental and molecular mutagenesis

authors： Nicklas JA,Carter EW,Albertini RJ

更新日期：2015-10-01 00:00:00

abstract：:It has been shown previously that carbon black (CB), Printex 90 exposure induces cII and lacZ mutants in the FE1-Muta(TM) Mouse lung epithelial cell line and causes oxidatively damaged DNA and the production of reactive oxygen species (ROS). The purpose of this study was to determine the mutation spectrum in the cII g...

journal_title：Environmental and molecular mutagenesis

authors： Jacobsen NR,White PA,Gingerich J,Møller P,Saber AT,Douglas GR,Vogel U,Wallin H

更新日期：2011-05-01 00:00:00

abstract：:DNA damage and its subsequent repair occur heterogeneously throughout the genome, which reflects the nature of the damaging agents, gross chromosomal structure, the specific nucleotide sequence, and transcriptional status. We selected to investigate the repair of DNA damage in an artificial, transgenic situation. Here...

journal_title：Environmental and molecular mutagenesis

authors： Yang H,Kotturi GP,de Boer JG,Glickman BW

更新日期：1999-01-01 00:00:00

abstract：:Non-isotopic in situ hybridization using a mouse gamma (major) satellite probe DNA was applied to detect centromeres in micronuclei, which were induced in vitro in mouse liver cells by ionizing radiation and by vinblastine sulfate. In a cytokinesis-blocked micronucleus assay a dose-dependent induction of micronuclei w...

journal_title：Environmental and molecular mutagenesis

authors： Salassidis K,Huber R,Zitzelsberger H,Bauchinger M

更新日期：1992-01-01 00:00:00

abstract：:Clustered damage induced by ionizing radiation--two or more oxidized bases, abasic sites, or strand breaks within a few DNA helical turns--have been postulated to be major lethal and/or mutagenic sites. Although they have recently been shown to be induced in genomic DNAs by ionizing photons and particles, little is kn...

journal_title：Environmental and molecular mutagenesis

authors： Sutherland BM,Bennett PV,Weinert E,Sidorkina O,Laval J

更新日期：2001-01-01 00:00:00

abstract：:The Pig-a assay is an emerging and promising in vivo method to determine mutagenic potential of chemicals. Since its development in 2008, remarkable progress has been made in harmonizing and characterizing the test procedures, primarily using known mutagenic chemicals. The purpose of the present study was to evaluate ...

journal_title：Environmental and molecular mutagenesis

authors： Ji Z,Settivari RS,LeBaron MJ

更新日期：2019-01-01 00:00:00

abstract：:Data on human trisomic conceptuses suggest that the extra chromosome commonly has a maternal origin, and the amount and position of crossing-over on nondisjoined chromosomes is commonly altered. These observations may provide important clues to the etiology of human germ cell aneuploidy, especially in regard to evalua...

journal_title：Environmental and molecular mutagenesis

authors： Ferguson LR,Allen JW,Mason JM

更新日期：1996-01-01 00:00:00

abstract：:Exposure to high concentrations of hexavalent chromium [Cr(VI)] in drinking water was associated with an increased incidence of oral tumors in F344 rats in a 2-year cancer bioassay conducted by the National Toxicology Program. These tumors primarily occurred at 180 ppm Cr(VI) and appeared to originate from the gingiva...

journal_title：Environmental and molecular mutagenesis

authors： Thompson CM,Young RR,Suh M,Dinesdurage HR,Elbekai RH,Harris MA,Rohr AC,Proctor DM

更新日期：2015-08-01 00:00:00

abstract：:To protect human and ecosystem health, it is necessary to develop sensitive assays and to identify responsive cells and species (and their life stages). In this study, the relative genotoxicity of two inorganic arsenicals: trivalent sodium arsenite (As(3+)) and pentavalent sodium arsenate (As(5+)), was evaluated in tw...

journal_title：Environmental and molecular mutagenesis

authors： Raisuddin S,Jha AN

更新日期：2004-01-01 00:00:00

abstract：:A transplacental carcinogenicity study was conducted by exposing pregnant Swiss (CD-1) mice to 0, 50, 100, 200, or 300 mg 3'-azido-3'-deoxythymidine (AZT)/kg body weight (BW) daily for the duration of gestation (18-19 days) [National Toxicology Program,2006]. The incidence of alveolar/bronchiolar adenomas and carcinom...

journal_title：Environmental and molecular mutagenesis

authors： Koujitani T,Ton TV,Lahousse SA,Hong HH,Wakamatsu N,Sills RC

更新日期：2008-12-01 00:00:00

abstract：:The term "the DNA damage response" (DDR) encompasses a sophisticated array of cellular initiatives set in motion as cells are exposed to DNA-damaging events. It has been known for over half a century that all organisms have the ability to restore genomic integrity through DNA repair. More recent discoveries of signal ...

journal_title：Environmental and molecular mutagenesis

authors： Ljungman M

更新日期：2010-10-01 00:00:00

abstract：:Eleven mutagenic heterocyclic amines, 3-amino-1,4-dimethyl-5H-pyrido[4,3-b]-indole (Trp-P-1), 3-amino-1-methyl-5H-pyrido[4,3]indole (Trp-P-2), 2-amino-6-methyl-dipyrido[1,2-a:3',2'-d]imidazole (Glu-P-1), 2-aminodipyrido[1,2-a:3',2'-d]imidazole (Glu-P-2), 2-amino-9H-pyrido[2,3-b]indole (A alpha C), 2-amino-3-methyl-9H-...

journal_title：Environmental and molecular mutagenesis

authors： Yoshimi N,Sugie S,Iwata H,Mori H,Williams GM

更新日期：1988-01-01 00:00:00

abstract：:Nitrous acid (NA) is often presumed to cause base substitutions in organisms with double-stranded DNA as a direct consequence of oxidative deamination of adenine and of cytosine residues. Here we summarize evidence indicating that other mechanisms are involved in the case of NA-induced G/C-->A/T transition mutations. ...

journal_title：Environmental and molecular mutagenesis

authors： Hartman Z,Henrikson EN,Hartman PE,Cebula TA

更新日期：1994-01-01 00:00:00

abstract：:Iron oxide nanoparticles (ION) are gaining importance as diagnostic and therapeutic tool of central nervous system diseases. Although oleic acid-coated ION (O-ION) have been described as stable and biocompatible, their potential neurotoxicity was scarcely evaluated in human nervous cells so far. The primary aim of thi...

journal_title：Environmental and molecular mutagenesis

authors： Fernández-Bertólez N,Costa C,Brandão F,Duarte JA,Teixeira JP,Pásaro E,Valdiglesias V,Laffon B

更新日期：2019-12-01 00:00:00

abstract：:Titanium dioxide (TiO2 ) nanomaterials (NMs) are widely used in a diversity of products including cosmetics, pharmaceuticals, food, and inks, despite uncertainties surrounding the potential health risks that they pose to humans and the environment. Previous studies on the genotoxicity of TiO2 have reported discrepant ...

journal_title：Environmental and molecular mutagenesis

authors： Louro H,Tavares A,Vital N,Costa PM,Alverca E,Zwart E,de Jong WH,Fessard V,Lavinha J,Silva MJ

更新日期：2014-07-01 00:00:00

abstract：:We describe an in vivo mutagenesis model that utilizes reverse mutation and forward mutation at the endogenous Aprt locus. Reverse mutation provides an in situ method for detecting environments or agents that cause point mutations. Forward mutation detects large chromosomal events, including mitotic recombination, chr...

journal_title：Environmental and molecular mutagenesis

authors： Stambrook PJ,Shao C,Stockelman M,Boivin G,Engle SJ,Tischfield JA

更新日期：1996-01-01 00:00:00

abstract：:The Big Blue mouse was used to investigate the role of cell proliferation in mutation fixation in the mouse back skin model of carcinogenesis. Phorbol 12-myristate 13 acetate (TPA) was applied to the dorsum of Big Blue mice to manipulate cell proliferation, and benzo[a]pyrene (BaP) or BaP-diolepoxide (BPDE) was applie...

journal_title：Environmental and molecular mutagenesis

authors： Miller ML,Vasunia K,Talaska G,Andringa A,de Boer J,Dixon K

更新日期：2000-01-01 00:00:00

abstract：:Lack of cell surface glycosylphosphatidylinositol (GPI)-anchored protein(s) has been used as a reporter of Pig-a gene mutation in several model systems. As an extension of this work, our laboratory initiated development of an in vitro mutation assay based on the flow cytometric assessment of CD90.2 expression on the c...

journal_title：Environmental and molecular mutagenesis

authors： Bemis JC,Avlasevich SL,Labash C,McKinzie P,Revollo J,Dobrovolsky VN,Dertinger SD

更新日期：2018-01-01 00:00:00

abstract：:Micronucleus (MN) expression in peripheral blood lymphocytes is well established as a standard method for monitoring chromosome damage in human populations. The first results of an analysis of pooled data from laboratories using the cytokinesis-block micronucleus (CBMN) assay and participating in the HUMN (HUman Micro...

journal_title：Environmental and molecular mutagenesis

authors： Bonassi S,Fenech M,Lando C,Lin YP,Ceppi M,Chang WP,Holland N,Kirsch-Volders M,Zeiger E,Ban S,Barale R,Bigatti MP,Bolognesi C,Jia C,Di Giorgio M,Ferguson LR,Fucic A,Lima OG,Hrelia P,Krishnaja AP,Lee TK,Migliore L

更新日期：2001-01-01 00:00:00

abstract：:Ethylene oxide (EO) is a direct acting alkylating agent; in vitro and in vivo studies indicate that it is both a mutagen and a carcinogen. However, it remains unclear whether the mode of action (MOA) for cancer for EO is a mutagenic MOA, specifically via point mutation. To investigate the MOA for EO-induced mouse lung...

journal_title：Environmental and molecular mutagenesis

authors： Manjanatha MG,Shelton SD,Chen Y,Parsons BL,Myers MB,McKim KL,Gollapudi BB,Moore NP,Haber LT,Allen B,Moore MM

更新日期：2017-04-01 00:00:00