Artemis deficiency: A large cohort including a novel variant with increased radiosensitivity.

Background: Artemis deficiency is an autosomal recessive disorder characterized by a combined immunodeficiency with increased cellular radiosensitivity. In this review, the clinical and genetic characteristics of 15 patients with DCLRE1C variants are presented.

Methods: The demographic, clinical, immunologic, and genetic characteristics of patients with confirmed DCLRE1C variants diagnosed between 2013 and 2023 were collected retrospectively.

Increased radiosensitivity and impaired DNA repair in patients with STAT3-LOF and ZNF341 deficiency, potentially contributing to malignant transformations.

STAT3 plays an important role in various complex and sometimes contradictory pathways such as proliferation, differentiation, migration, inflammation, and apoptosis. The transcriptional activity of the STAT3 gene is controlled by a transcription factor called ZNF341. There is insufficient data on radiation sensitivity and post-radiation DNA repair in STAT3- loss-of-function (LOF) patients.

Binary and ternary new water soluble copper(II) complexes of l-tyrosine and substituted 1,10-phenanthrolines: effect of substitution on DNA interactions and cytotoxicities.

Binary and ternary water soluble copper(II) complexes - [Cu(nphen)2(H2O)](NO3)2·H2O (1), [Cu(phen)2(H2O)](NO3)2 (2), [Cu(nphen)(l-tyr)(H2O)]NO3·2H2O (3), [Cu(phen)(tyr)(H2O)] NO3·2H2O (4) - and diquarternary salts of nphen and phen (nphen=5-nitro-1,10-phenanthroline, phen=1,10-phenanthroline and tyr=l-tyrosine) have been synthesized and characterized by CHN analysis, (1)H NMR, (13)C NMR and IR spectroscopy, thermal analysis and single crystal X-ray diffraction techniques. The CT-DNA binding properties of these compounds have been investigated by thermal denaturation measurements, absorption and emission spectroscopy. The supercoiled pUC19 plasmid DNA cleavage activity of these compounds has been explored by agarose gel electrophoresis.

Radio-protective effect of cinnamic acid, a phenolic phytochemical, on genomic instability induced by X-rays in human blood lymphocytes in vitro.

The present study was designed to determine the protective activity of cinnamic acid against induction by X-rays of genomic instability in normal human blood lymphocytes. This radio-protective activity was assessed by use of the cytokinesis-block micronucleus test and the alkaline comet assay, with human blood lymphocytes isolated from two healthy donors. A Siemens Mevatron MD2 (Siemens AG, USA, 1994) linear accelerator was used for the irradiation with 1 or 2 Gy.

Effects of fullerenol nanoparticles on acetamiprid induced cytoxicity and genotoxicity in cultured human lung fibroblasts.

The aim of this study was to investigate the effects of water soluble fullerene (fullerenol) nanoparticles on the in vitro genotoxicity induced by the insecticide acetamiprid. Healthy human lung cells (IMR-90) were treated with fullerenol C60(OH)n (n: 18-22) alone and in combination with acetamiprid for 24h. The micronucleus test, comet assay and γ-H2AX foci formation assays were used as genotoxicity endpoints.

Evaluation of in vitro cytotoxicity and genotoxicity of copper-zinc alloy nanoparticles in human lung epithelial cells.

In the present study, in vitro cytotoxic and genotoxic effect of copper-zinc alloy nanoparticles (Cu-Zn ANPs) on human lung epithelial cells (BEAS-2B) were investigated. XTT test and clonogenic assay were used to determine cytotoxic effects. Cell death mode and intracellular reactive oxygen species formations were analyzed using M30, M65 and ROS Elisa assays.

Radioprotection by two phenolic compounds: chlorogenic and quinic acid, on X-ray induced DNA damage in human blood lymphocytes in vitro.

The present study was designed to determine the radioprotective effect of two phytochemicals, namely, quinic acid and chlorogenic acid, against X-ray irradiation-induced genomic instability in non-tumorigenic human blood lymphocytes. The protective ability of two phenolic acids against radiation-induced DNA damage was assessed using the alkaline comet assay in human blood lymphocytes isolated from two healthy human donors. A Siemens Mevatron MD2 (Siemens AG, USA, 1994) linear accelerator was used for irradiation.

Sublethal toxicity of esbiothrin relationship with total antioxidant status and in vivo genotoxicity assessment in fish (Cyprinus carpio L., 1758) using the micronucleus test and comet assay.

Esbiothrin, synthetic pyrethroid with quick activity against insects, is widely used against household pests and in public health. Despite widespread use, data on ecotoxicity and genotoxic effects are extremely scarce. The aim of the present study is to evaluate the genotoxic potential of esbiothrin on a model fish species Cyprinus carpio L.

In vivo genotoxicity evaluation of atrazine and atrazine-based herbicide on fish Carassius auratus using the micronucleus test and the comet assay.

Atrazine is a selective triazine herbicide used to control broadleaf and grassy weeds mainly in corn, sorghum, sugarcane, pineapple, and other crops, and in conifer reforestation planting fields. It has been showed that atrazine is one of the most frequently detected pesticides in agricultural streams and rivers, over the past two decades. Although the toxic properties of atrazine are well known, the data on the genotoxic effects of atrazine on aquatic organisms are rather scarce.

Antioxidant enzyme activity and lipid peroxidation in liver and gill tissues of Nile tilapia (Oreochromis niloticus) following in vivo exposure to domoic acid.

Domoic acid (DA) is a neurotoxicant produced by Pseudo-nitzschia from diatomeae. Although the neurotoxic and genotoxic effects of DA have been well documented, the number of in vivo studies regarding the oxidative stress inducing effects of DA is quite limited. In this study, in vivo toxic effects of DA were investigated on fish Oreochromis niloticus (Fam: Cichlidae), using oxidative stress biomarkers.

In vivo genotoxicity testing of the amnesic shellfish poison (domoic acid) in piscine erythrocytes using the micronucleus test and the comet assay.

Domoic acid (DA) is a neurotoxic amino acid naturally produced in the marine environment by some diatom species belonging to the genus Pseudo-nitzschia. Although the neurotoxic properties of DA have been demonstrated, very little is known about in vivo genotoxicity of DA on aquatic organisms. In the present paper, an in vivo study on the genotoxic effects of domoic acid was carried out on a fish, Oreochromis niloticus, using the micronucleus test and the comet assay.

The evaluation of toxicity and mutagenicity of various drinking waters in the human blood lymphocytes (HULYs) in vitro.

The aim of the study was to evaluate the toxic and mutagenic effects of bottled purified and natural spring waters for drinking. The study presents the genotoxicologic results of drinking water samples packaged in polyethylene terephthalate (PET) bottles. Genotoxic agents have the potential to interact with DNA and may cause DNA damage.

Genotoxicity testing of the herbicide trifluralin and its commercial formulation Treflan using the piscine micronucleus test.

In this study, the genotoxic effects of a widely used herbicide, trifluralin, and its commercial formulation, Treflan, were evaluated using the micronucleus test in a commercially important fish species, Oreochromis niloticus (Nile Tilapia). Fish were exposed to 1, 5, and 10 microg/L doses of trifluralin and Treflan for 3, 6, and 9 days under laboratory conditions. Ethylmethanesulfonate, at a single dose of 10 mg/L, was used as positive control.

In vivo genotoxicity of mercury chloride and lead acetate: Micronucleus test on acridine orange stained fish cells.

The genotoxic effects of mercury chloride and lead acetate were evaluated in vivo using the micronucleus (MN) assay on acridine-orange (AO) stained peripheral blood erythrocytes, gill and fin epithelial cells of Carassius auratus auratus. Fish were exposed to three different concentrations of mercury chloride (MC) (1 microg/, 5 microg/L and 10 microg/L) and lead acetate (LA) (10 microg/L, 50 microg/L and 100 microg/L) for 2, 4 and 6 days. A single dose of 5 mg/L cyclophosphamide was used as a positive control.

Genotoxic biomonitoring study of population residing in pesticide contaminated regions in Göksu Delta: micronucleus, chromosomal aberrations and sister chromatid exchanges.

Pesticides are widely used throughout the world in agriculture to protect crops and in public health to control diseases. Nevertheless, exposure to pesticides represents a potential risk to humans. This paper describes a study of possible genetic damage in the people living in regions contaminated with complex mixture of pesticides in Göksu Delta.

Detection of cytogenetic and DNA damage in peripheral erythrocytes of goldfish (Carassius auratus) exposed to a glyphosate formulation using the micronucleus test and the comet assay.

Glyphosate is a widely used broad-spectrum weed control agent. In the present study, an in vivo study on the genotoxic effects of a technical herbicide (Roundup) containing isopropylamine salt of glyphosate was carried out on freshwater goldfish Carassius auratus. The fish were exposed to three doses of glyphosate formulation (5, 10 and 15 ppm).

Monitoring of nuclear abnormalities in peripheral erythrocytes of three fish species from the Goksu Delta (Turkey): genotoxic damage in relation to water pollution.

Goksu Delta is a specially protected area in the Mediterranean region of Turkey. The delta is classified as a Wetland of International Importance according to the RAMSAR Convention on Wetlands of International Importance. Increases in population have recently taken place in this region due to heavy agricultural activities and discharges of anthropogenic wastes.

Evaluation of river water genotoxicity using the piscine micronucleus test.

The Berdan River, which empties into the Mediterranean Sea on the east coast of Turkey, receives discharges of industrial and municipal waste. In the present study, the in vivo piscine micronucleus (MN) test was used to evaluate the genotoxicity of water samples collected from different locations along the Berdan River. Nile tilapia (Oreochromis niloticus) were exposed in the laboratory for 2, 4, and 6 days, and micronuclei were evaluated in peripheral blood erythrocytes, gill cells, and caudal fin epithelial cells.

Induction of micronuclei and nuclear abnormalities in Oreochromis niloticus following exposure to petroleum refinery and chromium processing plant effluents.

The genotoxic effects of effluents from a petroleum refinery and a chromium processing plant were evaluated in Oreochromis niloticus (Pisces: Perciformes) using the micronucleus test. Fish were exposed to different concentrations (5, 10 and 20%, v/v) of the effluents for 3, 6 and 9 days. Micronucleus analyses were carried out on gill epithelial cells and peripheral blood erythrocytes.

Micronucleus test in fish cells: a bioassay for in situ monitoring of genotoxic pollution in the marine environment.

To evaluate the use of native fish species for assessing genotoxic pollution in the marine environment, micronucleus (MN) analysis was performed in peripheral blood erythrocytes and gill cells of the grey mullet (Mugil cephalus) from three sampling stations off the southeastern Mediterranean coast of Turkey. The frequencies of blebbed, notched, and lobed nuclei and binucleated cells also were evaluated in peripheral erythrocytes. The sampling sites were chosen on the basis of pollution levels; Karaduvar harbor, contaminated by different types of industrial effluents, and Mersin harbor, mainly contaminated by aromatic hydrocarbons, were selected as polluted areas.

Induction of micronuclei and binuclei in blood, gill and liver cells of fishes subchronically exposed to cadmium chloride and copper sulphate.

Common carp (Cyprinus carpio), Prussian carp (Carassius gibelio) and Peppered cory (Corydoras paleatus) were evaluated as target species to perform genotoxicity tests for heavy metals. Fishes were exposed to different doses of cadmium (0.005-0.

Genotoxicity evaluation of metronidazole using the piscine micronucleus test by acridine orange fluorescent staining.

In this study, genotoxic potential of metronidazole, an antibiotic-antiparasitic agent widely used both clinical and veterinary areas, was evaluated using the piscine micronucleus test. Specimens of Oreochromis niloticus (Pisces: Cichlidae) were exposed to different concentrations (5, 10, 15mg/L) of metronidazole and 4mg/L cyclophosphamide (as positive control) for 24, 48 and 72h. A fluorescent staining technique with acridine orange (AO) was performed to improve the sensitivity of erythrocyte micronucleus assay with fish.

Cytogenetic biomonitoring in petrol station attendants: micronucleus test in exfoliated buccal cells.

To study the effects of occupational exposure to petroleum derivates such as benzene, exfoliated buccal cells from 50 petrol station attendants and 50 age- and sex-matched control subjects were examined for micronucleus (MN) frequency. Frequencies of nuclear abnormalities (NA) other than micronuclei, such as binucleates, karyorrhexis and karyolysis, were also evaluated. Benzene exposure was ascertained by measuring urinary phenol levels.

Micronuclei, nuclear lesions and interphase silver-stained nucleolar organizer regions (AgNORs) as cyto-genotoxicity indicators in Oreochromis niloticus exposed to textile mill effluent.

In this study, cyto-genotoxic effects of a textile mill effluent on fish Oreochromis niloticus were investigated using the micronucleus (MN) test and methods to analyze interphase silver-stained nucleolar organizer regions (AgNORs). Fishes were exposed to three different concentrations of textile mill effluent (5, 10 and 20%(v/v)) for 3, 6 and 9 days. Cyclophosphamide (2mg/l) was used as a positive control.