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.

Implication of GATA4 synonymous variants in Congenital Heart Disease: A comprehensive in-silico approach
This study establishes that the synonymous variants are possibly associated with disease phenotype in CHD patients. Comprehensive computational analysis, using well-established web based tools, is suggestive of their potential downstream molecular effects on the structure, stability and expression of GATA4 protein.Graphical Abstract (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - December 16, 2018 Category: Cytology Source Type: research

Role of Endonuclease III Enzymes in Uracil Repair
This study provides definitive clarification on uracil repair by endo III and reveals that endonuclease III is a G/U-specific UDG that can be viewed as a prototype for the human MBD4 uracil DNA glycosylase. (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - December 15, 2018 Category: Cytology Source Type: research

A molecular dynamics based investigation reveals the role of rare Ribonuclease 4 variants in amyotrophic lateral sclerosis susceptibility
Publication date: Available online 29 November 2018Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Aditya K. Padhi, James GomesAbstractMissense mutations in certain genes of the Ribonuclease (RNASE) superfamily cause amyotrophic lateral sclerosis (ALS) through loss of either ribonucleolytic or nuclear translocation or both of these activities. While rare ANG/RNASE5 variants have been previously shown to be ALS causative, it is not yet known if any of the reported rare RNASE4 variants can also trigger ALS. The study aims to understand whether rare variants of RNASE4 can manifest ALS t...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - November 30, 2018 Category: Cytology Source Type: research

Is Level of Acetylation Directly Correlated to Radiation Sensitivity of Cancer Cell?
Publication date: Available online 22 November 2018Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Fengqiu zhang, Qing HuangABSTRACTIt is known that histone deacetylase inhibitors (HDACis) can modify acetylation of tumor cells and affect radiation sensitivity, or, radiosensitivity. While previous studies showed that trichostatin A (TSA, a typical HDACi) could enhance cell acetylation and so be used as radiation-sensitizer in radiotherapy, we questioned if the radiosensitivity is correlated with cellular acetylation directly. So we inspected radiation response of HeLa cells treated wi...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - November 23, 2018 Category: Cytology Source Type: research

Editorial Board
Publication date: November 2018Source: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 812Author(s): (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - November 14, 2018 Category: Cytology Source Type: research

Flanking complex copy number variants in the same family formed through unequal crossing-over during meiosis
In conclusion, these two cases highlight the need of analyzing the inheritance patterns of CGRs, and provide an example of a disease-causing CGR formed through multiple genetic events. (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - October 23, 2018 Category: Cytology Source Type: research

Monitoring early cell damage in physicians who are occupationally exposed to inhalational anesthetics
Publication date: Available online 9 October 2018Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Aline G. Aun, Marjorie A. Golim, Flávia R. Nogueira, Kátina M. Souza, Nayara M. Arruda, José Reinaldo C. Braz, Leandro G. Braz, Mariana G. BrazAbstractWorldwide, millions of professionals who work in operating rooms are occupationally exposed to inhalational anesthetics. Thus, the potential health effects of the continuous exposure to inhalational anesthetics on individuals in the operating room remain a subject of debate. Human biomonitoring is a potentially useful tool for assessing ...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - October 10, 2018 Category: Cytology Source Type: research

Editorial Board
Publication date: September 2018Source: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 811Author(s): (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - October 5, 2018 Category: Cytology Source Type: research

High serum uric acid is associated with oxidation of nucleosides in patients with type 2 diabetes
Publication date: September 2018Source: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 811Author(s): Carolina S. Stein, José A.M. de Carvalho, Marta M.M.F. Duarte, Ivana B.M. da Cruz, Melissa O. Premaor, Fabio V. Comim, Maria B. Moretto, Rafael N. MorescoAbstractUric acid presents different roles in an organism, since it can act as an antioxidant or a pro-oxidant molecule. High serum uric acid levels may cause damage to several structures, including nucleic acids and its components. Therefore, in this study the association between increased serum uric acid concentrations and oxidation of nuc...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - October 4, 2018 Category: Cytology Source Type: research

Editorial Board
Publication date: July 2018Source: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 810Author(s): (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 18, 2018 Category: Cytology Source Type: research

Biological effects of carbon ion beams with various LETs on budding yeast Saccharomyces cerevisiae
Publication date: Available online 7 November 2017Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Youichirou Matuo, Yoshinobu Izumi, Yoshiya Furusawa, Kikuo ShimizuAbstractIt has been established that irradiation with higher linear energy transfer (LET) increases lethality and mutagenicity more than that with lower LET. However, the characteristics specific to carbon ion beam have not yet been elucidated. Yeast cells were irradiated with carbon ions with an LET of 13 or 50 keV/μm, and cell survival and mutation frequency were analyzed. The results, combined with our previous fi...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 10, 2018 Category: Cytology Source Type: research

Mitochondrial mutations associated with hearing and balance disorders
This study aims to systematically review mitochondrial mutations associated with presbyacusis and suggests preventive measurements to improve the quality of life in older adults. (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 10, 2018 Category: Cytology Source Type: research

Eukaryotic DNA damage responses: Homologous recombination factors and ubiquitin modification
Publication date: May 2018Source: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 809Author(s): Nam Soo Lee, Soomi Kim, Yong Woo Jung, Hongtae KimAbstractTo prevent genomic instability disorders, cells have developed a DNA damage response. The response involves various proteins that sense damaged DNA, transduce damage signals, and effect DNA repair. In addition, ubiquitin modifications modulate the signaling pathway depending on cellular context. Among various types of DNA damage, double-stranded breaks are highly toxic to genomic integrity. Homologous recombination (HR) repair is an essential...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 10, 2018 Category: Cytology Source Type: research

The functional roles of PML nuclear bodies in genome maintenance
Publication date: May 2018Source: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 809Author(s): Hae Ryung Chang, Anudari Munkhjargal, Myung-Jin Kim, Seon Young Park, Eunyoung Jung, Jae-Ha Ryu, Young Yang, Jong-Seok Lim, Yonghwan KimAbstractIn the nucleus, there are several membraneless structures called nuclear bodies. Among them, promyelocytic leukemia nuclear bodies (PML-NBs) are involved in multiple genome maintenance pathways including the DNA damage response, DNA repair, telomere homeostasis, and p53-associated apoptosis. In response to DNA damage, PML-NBs are coalesced and divided by a f...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 10, 2018 Category: Cytology Source Type: research

Editorial Board
Publication date: May 2018Source: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 809Author(s): (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 10, 2018 Category: Cytology Source Type: research