Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

p.Val19Glyfs*21 and p.Leu228* variants in the survival of motor neuron 1 trigger nonsense-mediated mRNA decay causing the SMN1 PTC+ transcripts degradation
Publication date: Available online 15 September 2017 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Yu-jin Qu, Lin Ge, Jin-li Bai, Yan-yan Cao, Yu-wei Jin, Hong Wang, Lan Yang, Fang Song Spinal Muscular Atrophy (SMA) results from loss-of-function mutations in the survival of motor neuron 1 (SMN1) gene. Our previous research showed that 40% of variants were nonsense or frameshift variants and SMN1 mRNA levels in the patients carrying these variants were significantly decreased. Here we selected one rare variant (p.Val19Glyfs*21) and one common variant (p.Leu228*) to explore...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - September 15, 2017 Category: Cytology Source Type: research

Integration of the TGx-28.65 genomic biomarker with the flow cytometry micronucleus test to assess the genotoxicity of disperse orange and 1,2,4-benzenetriol in human TK6 cells
In this study, we applied the TGx-28.65 genomic biomarker in parallel with the in vitro micronucleus (MN) assay to determine if two chemicals of regulatory interest at Health Canada, disperse orange (DO: the orange azo dye 3-[[4-[(4-Nitrophenyl)azo]phenyl] benzylamino]propanenitrile) and 1,2,4-benzenetriol (BT: a metabolite of benzene) are genotoxic or non-genotoxic. Both chemicals caused dose-dependent declines in relative survival and increases in apoptosis. A strong significant increase in MN induction was observed for all concentrations of BT; the top two concentrations of DO also caused a statistically significant inc...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - September 13, 2017 Category: Cytology Source Type: research

Effect of Modeled Microgravity on UV-C-induced Interplant Communication of Arabidopsis thaliana
Publication date: Available online 6 September 2017 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Ting Wang, Wei Xu, Huasheng Li, Chenguang Deng, Hui Zhao, Yuejin Wu, Min Liu, Lijun Wu, Jinying Lu, Po Bian Controlled ecological life support systems (CELSS) will be an important feature of long-duration space missions of which higher plants are one of the indispensable components. Because of its pivotal role in enabling plants to cope with environmental stress, interplant communication might have important implications for the ecological stability of such CELSS. However, ...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - September 6, 2017 Category: Cytology Source Type: research

Delayed effects of accelerated heavy ions on the induction of HPRT mutations in V79 hamster cells
Publication date: Available online 31 August 2017 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Pavel Bláha, Nataliya A. Koshlan, Igor V. Koshlan, Daria V. Petrova, Yulia V. Bogdanova, Raisa D. Govorun, Viliam Múčka, Evgeny A. Krasavin Fundamental research on the harmful effects of ionizing radiation on living cells continues to be of great interest. Recently, priority has been given to the study of high-charge and high-energy (HZE) ions that comprise a substantial part of the galactic cosmic ray (GCR) spectra that would be encountered during long-term space flights. M...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - September 1, 2017 Category: Cytology Source Type: research

Investigating mutation-specific biological activities of small molecules using quantitative structure-activity relationship for epidermal growth factor receptor in cancer
Publication date: Available online 26 August 2017 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): P. Anoosha, R. Sakthivel, M. Michael Gromiha Epidermal Growth Factor Receptor (EGFR) is a potential drug target in cancer therapy. Missense mutations play major roles in influencing the protein function, leading to abnormal cell proliferation and tumorigenesis. A number of EGFR inhibitor molecules targeting ATP binding domain were developed from the past two decades. Unfortunately, they become inactive due to resistance caused by new mutations in patients, and previous studies have ...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - August 27, 2017 Category: Cytology Source Type: research

Identification of Intronic-splice site mutations in GATA4 gene in Indian patients with Congenital Heart Disease
This study attempts to correlate the pattern of intronic variants of GATA4 gene which might provide new insights to unravel the possible molecular etiology of CHD. (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - August 18, 2017 Category: Cytology Source Type: research

Role of specialized DNA polymerases in the limitation of replicative stress and DNA damage transmission
Publication date: Available online 14 August 2017 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Elodie Bournique, Marina Dall’Osto, Jean-Sébastien Hoffmann, Valérie Bergoglio Replication stress is a strong and early driving force for genomic instability and tumor development. Beside replicative DNA polymerases, an emerging group of specialized DNA polymerases is involved in the technical assistance of the replication machinery in order to prevent replicative stress and its deleterious consequences. During S-phase, altered progression of the replication fork by endogenous ...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - August 17, 2017 Category: Cytology Source Type: research

Automatic detection of micronuclei by cell microscopic image processing
Publication date: Available online 12 August 2017 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Mohammad Taghi Bahreyni Toossi, Hosein Azimian, Omid Sarrafzadeh, Shokoufeh Mohebbi, Shokouhozaman Soleymanifard With the development and applications of ionizing radiation in medicine, the radiation effects on human health get more and more attention. Ionizing radiation can lead to various forms of cytogenetic damage, including increased frequencies of micronuclei (MNi) and chromosome abnormalities. The cytokinesis block micronucleus (CBMN) assay is widely used method for measuri...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - August 12, 2017 Category: Cytology Source Type: research

Balancing act: To be, or not to be ubiquitylated
Publication date: Available online 21 July 2017 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Ryotaro Nishi DNA double-strand breaks (DSBs) are one of the most deleterious DNA lesions. Appropriate repair of DSB either by homologous recombination or non-homologous end-joining is critical for maintaining genome stability and fitness. DSB repair cooperates with cellular signalling networks, namely DSB response (DDR), which plays pivotal roles in the choice of DSB repair pathway, orchestrating recruitment of DDR factors to site of damage, transcription suppression and cell cycle che...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 29, 2017 Category: Cytology Source Type: research

Regulation of repair pathway choice at two-ended DNA double-strand breaks
Publication date: Available online 29 July 2017 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Atsushi Shibata A DNA double-strand break (DSB) is considered to be a critical DNA lesion because its misrepair can cause severe mutations, such as deletions or chromosomal translocations. For the precise repair of DSBs, the repair pathway that is optimal for the particular circumstance needs to be selected. Non-homologous end joining (NHEJ) functions in G1/S/G2 phase, while homologous recombination (HR) becomes active only in S/G2 phase after DNA replication. DSB end structure is anoth...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 29, 2017 Category: Cytology Source Type: research

Single nucleotide variations in cultured cancer cells: effect of mismatch repair
Publication date: Available online 27 July 2017 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Igor G. Panyutin, Irina V. Panyutin, Ian Powell-Castilla, Laura Felix, Ronald D. Neumann We assessed single nucleotide variations (SNVs) between individual cells in two cancer cell lines; DU145, from brain metastasis of prostate tumor with deficient mismatch repair; and HT1080, a fibrosarcoma cell line. Clones of individual cells were isolated, and sequenced using Ion Ampliseq comprehensive cancer panel that covered the exomes of 409 oncogenes and tumor suppressor genes. Five clones...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 27, 2017 Category: Cytology Source Type: research

Environmental Mutagenesis and Radiation Biology: The Legacy of William Morgan
Publication date: Available online 25 July 2017 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Jeffrey L. Schwartz (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 26, 2017 Category: Cytology Source Type: research

Paths from DNA damage and signaling to genome rearrangements via homologous recombination
Publication date: Available online 24 July 2017 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Jac A. Nickoloff DNA damage is a constant threat to genome integrity. DNA repair and damage signaling networks play a central role maintaining genome stability, suppress tumorigenesis, and determine tumor response to common cancer chemotherapeutic agents and radiotherapy. DNA double-strand breaks (DSBs) are critical lesions induced by ionizing radiation and when replication forks encounter damage. DSBs can result in mutations and large-scale genome rearrangements reflecting mis-repair b...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 25, 2017 Category: Cytology Source Type: research

DNA Damage Levels in Electronics Workers in Southern China: A Micro-Whole Blood Comet Assay
In conclusion, we identified potential risk factors for DNA damage to electronics workers. Special attention should be paid to workers exposed to IPO and lead in a high-temp environment. (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 23, 2017 Category: Cytology Source Type: research

The Emerging Roles of the Ubiquitination/deubiquitination System in Tumor Radioresistance regarding DNA damage responses, cell cycle regulation, hypoxic responses, and antioxidant properties: Insight into the Development of Novel Radiosensitizing Strategies
Publication date: Available online 22 July 2017 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Yoko Goto, Sho Kpyasu, Minoru Kobayashi, Hiroshi Harada Radiation therapy is one of the first-line treatments for many cancers, with no less than half of cancer patients receiving it in the US. Despite the development of innovative and high-precision radiation therapy strategies, many patients still experience local tumor recurrence after the treatment, at least in part, due to the existence of radioresistant cells in malignant tumor tissues. Among the various biological processes kn...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 23, 2017 Category: Cytology Source Type: research