Nuclear actin: the new normal
Publication date: Available online 21 July 2020Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Leonid Serebryannyy, Primal de Lanerolle (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 23, 2020 Category: Cytology Source Type: research

Moving fast and breaking things: incidence and repair of DNA damage within ribosomal DNA repeats
Publication date: Available online 17 July 2020Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Yana P. Blokhina, Abigail Buchwalter (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 19, 2020 Category: Cytology Source Type: research

Toxic effect and genotoxicity of carvacrol ethers in Drosophila melanogaster
Publication date: Available online 18 June 2020Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Mariia Nesterkina, Svitlana Bilokon, Tetiana Alieksieieva, Sabina Chebotar, Iryna Kravchenko (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - June 20, 2020 Category: Cytology Source Type: research

Chromatin Rigidity Provides Mechanical and Genome Protection
Publication date: Available online 17 June 2020Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Andrew D. Stephens (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - June 18, 2020 Category: Cytology Source Type: research

Virtual screening of mutations in antioxidant genes and its putative association with HNSCC: An in silico approach
Publication date: Available online 9 June 2020Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Vijayashree Priyadharsini Jayaseelan, Paramasivam Arumugam (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - June 10, 2020 Category: Cytology Source Type: research

New insight into the biology of R-loops
Publication date: Available online 28 May 2020Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Prasun Chakraborty (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - May 28, 2020 Category: Cytology Source Type: research

Monitoring global chromatin dynamics in response to DNA damage
Publication date: Available online 26 May 2020Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Haitham A. Shaban, Andrew Seeber (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - May 28, 2020 Category: Cytology Source Type: research

Polymer perspective of genome mobilization
Publication date: Available online 26 May 2020Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Colleen J. Lawrimore, Josh Lawrimore, Yunyan He, Sergio Chavez, Kerry Bloom (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - May 28, 2020 Category: Cytology Source Type: research

Hepatocarcinogen 4-methylquinoline induced G:C to C:G transversions in the cII gene in the liver of lambda/lacZ transgenic mice (Muta™Mouse)
Publication date: Available online 23 May 2020Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Yuki Kitamura, Takayoshi Suzuki, Arihiro Kohara, Ken-ichi Saeki (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - May 24, 2020 Category: Cytology Source Type: research

Haplotype analysis of the CFTR gene on normal and mutant CFTR genes
Publication date: Available online 23 May 2020Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Nasibeh Karimi, Ali Bidemeshki Pour, Reza Alibakhshi, Shekoufeh Almasi (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - May 24, 2020 Category: Cytology Source Type: research

Blood and saliva-derived exomes from healthy Caucasian subjects do not display overt evidence of somatic mosaicism
Publication date: Available online 18 May 2020Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Nathan E. Hall, Jared Mamrot, Chris Frampton, Prue Read, Edward J. Steele, Rob Bischoff, Robyn A. Lindley (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - May 19, 2020 Category: Cytology Source Type: research

Characterization of an archaeal recombinase paralog that exhibits novel anti-recombinase activity
Publication date: Available online 7 May 2020Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Corey Knadler, Michael Rolfsmeier, Antonia Vallejo, Cynthia Haseltine (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - May 7, 2020 Category: Cytology Source Type: research

Identification of nsSNPs of transcription factor E2F1 predisposing individuals to Lung Cancer and Head and Neck Cancer
Publication date: Available online 4 May 2020Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Sanjay Singh, Ragothaman M. Yennamalli, Manish Gupta, Harish Changotra (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - May 5, 2020 Category: Cytology Source Type: research

Mutations induced by Bleomycin, 4-nitroquinoline-1-oxide, and hydrogen peroxide in the rpoB gene of Escherichia coli: Perspective on Mutational Hotspots
Publication date: Available online 30 March 2020Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Kristen Fernandez, Sara D’Souza, Jenny J. Ahn, Summer Singh, Erin Mae Bacasen, Daniel Mashiach, Daniel Mishail, Timothy Kao, Jasmine Thai, Spring Hwang, Lekha Yaramada, Jeffrey H. Miller (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - March 31, 2020 Category: Cytology Source Type: research

Editorial Board
Publication date: January–April 2020Source: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volumes 819–820Author(s): (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - March 28, 2020 Category: Cytology Source Type: research

Clinical Potential of ATM Inhibitors
Publication date: Available online 6 March 2020Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Martin F Lavin, Abrey J. Yeo (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - March 7, 2020 Category: Cytology Source Type: research

Targeting DNA-PK in cancer
Publication date: Available online 25 February 2020Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Giovanna Damia (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - February 26, 2020 Category: Cytology Source Type: research

WEE1 kinase limits CDK activities to safeguard DNA replication and mitotic entry
Publication date: Available online 25 February 2020Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Camilla R. Elbæk, Valdemaras Petrosius, Claus S. Sørensen (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - February 26, 2020 Category: Cytology Source Type: research

Therapeutic opportunities for PLK1 inhibitors: Spotlight on BRCA1-deficiency and triple negative breast cancers
Publication date: Available online 25 February 2020Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Iris Alejandra García, Cintia Garro, Elmer Fernandez, Gastón Soria (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - February 26, 2020 Category: Cytology Source Type: research

Genome sequencing of ion-beam-induced mutants facilitates detection of candidate genes responsible for phenotypes of mutants in rice
Publication date: Available online 21 February 2020Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Yutaka Oono, Hiroyuki Ichida, Ryouhei Morita, Shigeki Nozawa, Katsuya Satoh, Akemi Shimizu, Tomoko Abe, Hiroshi Kato, Yoshihiro HaseAbstractIon beams are physical mutagens used for plant and microbe breeding that cause mutations via a mechanism distinct from those of chemical mutagens or gamma rays. We utilized whole-exome sequencing of rice DNA in order to understand the properties of ion beam-induced mutations in a genome-wide manner. DNA libraries were constructed from selected carbo...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - February 22, 2020 Category: Cytology Source Type: research

Targeting AKT/PKB to improve treatment outcomes for solid tumors
Publication date: Available online 20 February 2020Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): M. Iida, P.M. Harari, D.L. Wheeler, M. ToulanyAbstractThe serine/threonine kinase AKT, also known as protein kinase B (PKB), is the major substrate to phosphoinositide 3-kinase (PI3K) and consists of three paralogs: AKT1 (PKBα), AKT2 (PKBβ) and AKT3 (PKBγ). The PI3K/AKT pathway is normally activated by binding of ligands to membrane-bound receptor tyrosine kinases (RTKs) as well as downstream to G-protein coupled receptors and integrin-linked kinase. Through multiple do...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - February 21, 2020 Category: Cytology Source Type: research

Gene (HPRT) and Chromosomal (MN) Mutations of Nickel Metal Powder in V79 Chinese Hamster cells
Publication date: Available online 27 January 2020Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Samuel Buxton, Yvonne Voges, Claudia Donath, Adriana OllerAbstractNickel metal is a naturally occurring element used in many industrial and consumer applications. Human epidemiological data and animal cancer bioassays indicate that nickel metal is not likely to be a human carcinogen. Yet, nickel metal is classified as a suspected human carcinogen (CLP) and possibly carcinogenic to humans (IARC). There are no reliable studies on the potential for nickel metal to induce gene and micronucle...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - January 29, 2020 Category: Cytology Source Type: research

An insight into the mechanism of DNA damage response in plants- role of SUPPRESSOR OF GAMMA RESPONSE 1: an overview
Publication date: Available online 23 January 2020Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Kalyan Mahapatra, Sujit RoyAbstractBecause of their sessile lifestyle, plants are inescapably exposed to various kinds of environmental stresses throughout their lifetime. Therefore, to regulate their growth and development, plants constantly monitor the environmental signals and respond appropriately. However, these environmental stress factors, along with some endogenous metabolites, generated in response to environmental stress factors often induce various forms of DNA damage in plant...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - January 25, 2020 Category: Cytology Source Type: research

Mutational Landscape screening of Methylene tetrahydrofolate reductase to predict Homocystinuria associated variants: an integrative computational approach
Publication date: Available online 16 January 2020Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Hemavathy Nagarajan, Saratha Narayanaswamy, Umashankar VetrivelAbstractMethylene tetrahydrofolate reductase (MTHFR) is a flavoprotein, involved in one-carbon pathway and is responsible for folate and homocysteine metabolism. Regulation of MTHFR is pivotal for maintaining the cellular concentrations of methionine and SAM (S-adenosyl methionine) which are essential for the synthesis of nucleotides and amino acids, respectively. Therefore, mutations in MTHFR leads to its dysfunction resulti...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - January 17, 2020 Category: Cytology Source Type: research

Editorial Board
Publication date: November 2019Source: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volumes 816–818Author(s): (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - November 17, 2019 Category: Cytology Source Type: research

microRNAs: Potential Glioblastoma Radiosensitizer by Targeting Radiation-Related Molecular Pathways
Publication date: Available online 21 October 2019Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Mohammad-Taghi Bahreyni-Toossi, Elham Dolat, Hashem Khanbabaei, Navid Zafari, Hosein AzimianAbstractGlioblastoma (GBM) is the most lethal type of primary brain tumor. Currently, even with optimal and multimodal cancer therapies, the survival rate of GBM patients remains poor. One reason for inadequate response of GBM tumors to radiotherapy is radioresistance (RR). Thus, there is a critical need for new insights about GBM treatment to increase the chance of treatment. microRNAs (miRNAs) a...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - October 22, 2019 Category: Cytology Source Type: research

ATR kinase inhibition sensitizes quiescent human cells to the lethal effects of cisplatin but increases mutagenesis
Publication date: Available online 17 September 2019Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Rebekah J. Hutcherson, Michael G. KempAbstractThe ATR protein kinase is known to protect cells from DNA damage induced during the replicative phase of the cell cycle. Small molecule ATR kinase inhibitors have therefore been developed to improve the effectiveness of DNA damage-based chemotherapy regimens aimed at killing rapidly proliferating tumor cells. However, whether ATR functions in a similar manner in non-replicating cells has not been examined and is important considering the fa...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - September 18, 2019 Category: Cytology Source Type: research

Mutation, methylation and expression analysis of LIFR gene in Indian breast cancer patients
Publication date: Available online 12 August 2019Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Sumayya Abdul Sattar RealAbstractLIFR functions as a tumor suppressor and metastatic suppressor of breast cancer. The present study investigates the status of LIFR gene in Indian breast cancer patients. A total of 137 breast cancer tissue and 137 adjacent normal tissue which served as controls were analyzed for the mutation by automated DNA sequencing, methylation through methylation-specific polymerase chain reaction and its corresponding expression at mRNA and protein level using real-t...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - August 13, 2019 Category: Cytology Source Type: research

Corrigendum to “Phosphorylation of PTEN at STT motif is associated with DNA damage response” [Mutat. Res./Fundam. Mol. Mech. Mutagen. 770 (December) (2014), 112–119]
Publication date: Available online 26 July 2019Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Sandip Misra, Ananda Mukherjee, Parimal Karmakar (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 27, 2019 Category: Cytology Source Type: research

Molecular Pathogenesis of Gallbladder Cancer: An Update
Publication date: Available online 6 July 2019Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Shravan Kumar Mishra, Niraj Kumari, Narendra KrishnaniAbstractGallbladder carcinoma (GBC) is the most aggressive gastrointestinal malignancy throughout the world, with wide geographical variance. It is the subtype of biliary tract malignancy that has the poorest prognosis and lower survival among all biliary tract malignancies. Various factors are associated with GBC pathogenesis such as environmental, microbial, metabolic and molecular. Chronic inflammation of gallbladder due to presence of...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 8, 2019 Category: Cytology Source Type: research

Nanoscopic analysis of 53BP1, BRCA1 and Rad51 reveals new insights in temporal progression of DNA-repair and pathway choice
Publication date: Available online 28 June 2019Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Benjamin SchwarzAbstractThe accumulation and spatial distribution of 53BP1, BRCA1 and Rad51, key proteins in DNA double-strand break (DSB) repair, was investigated with high temporal resolution over a time span of 24 h, using STED nanoscopy. DNA lesions were induced by irradiation with high-LET (linear energy transfer) α-particles. We show that 53BP1 IRIF formation occurs quickly in almost all cells and after about 6 h the fraction of 53BP1 IRIF positive cells slowly dec...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - June 29, 2019 Category: Cytology Source Type: research

Editorial Board
Publication date: May 2019Source: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 815Author(s): (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - June 16, 2019 Category: Cytology Source Type: research

The multi-faceted high order polymorphic synergistic interactions among nucleotide excision repair genes increase the risk of lung cancer in North Indians
Publication date: Available online 8 June 2019Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Shweta Lawania, Amrita Singh, Siddharth Sharma, Navneet Singh, Digamber BeheraAbstractIt is evident that gene-gene interactions are pervasive in the determination of the susceptibility of human diseases. Polymorphisms in nucleotide excision repair pathway (NER) genes can cause variations in the repair capacity and therefore, might lead to increase in susceptibility towards lung cancer through complex gene-gene and gene-smoking interactions.Logistic regression analysis, along with high order ...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - June 9, 2019 Category: Cytology Source Type: research

Genetic variants of parp4 gene and parp4p2 pseudogene in patients with multiple primary tumors including thyroid cancer
In conclusion, germline intronic PARP4 variants could be a risk factor for the development of TC, and PARP4P2 pseudogene variations associated with PARP4 down-regulation may confer susceptibility to develop multiple metachronous cancers. (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - June 2, 2019 Category: Cytology Source Type: research

In yeast cells arrested at the early S-phase by hydroxyurea, rRNA gene promoters and chromatin are poised for transcription while rRNA synthesis is compromised
This study indicates a hitherto unexplored cellular response to HU, namely altered rRNA synthesis, which could participate to hamper cell division. (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - April 28, 2019 Category: Cytology Source Type: research

Frequent homozygous deletions of the CDKN2A locus in somatic cancer tissues
Publication date: Available online 25 April 2019Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Mr Abdulaziz Hamid, Ruben PetreacaAbstractHere we present and describe data on homozygous deletions (HD) of human CDKN2 A and neighboring regions on the p arm of Chromosome 9 from cancer genome sequences deposited on the online Catalogue of Somatic Mutations in Cancer (COSMIC) database. Although CDKN2 A HDs have been previously described in many cancers, this is a pan-cancer report of these aberrations with the aim to map the distribution of the breakpoints. We find that HDs ...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - April 26, 2019 Category: Cytology Source Type: research

A method for the cell-cycle-specific analysis of radiation-induced chromosome aberrations and breaks
Publication date: Available online 6 April 2019Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Aashish Soni, Tamara Murmann-Konda, George IliakisAbstractThe classical G2-assay is widely used to assess cell-radiosensitivity and cancer phenotype: Cells are exposed to low doses of ionizing-radiation (IR) and collected for cytogenetic- analysis ˜1.5 h later. In this way, chromosome-damage is measured in cells irradiated in G2-phase, without retrieving information regarding kinetics of chromosome-break-repair. Modification of the assay to include analysis at multiple time-poi...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - April 6, 2019 Category: Cytology Source Type: research

Mutational pressure and natural selection in epidermal growth factor receptor gene during germline and somatic mutagenesis in cancer cells
In this study we investigated nucleotide usage biases along the length of a gene encoding human epidermal growth factor receptor (EGFR) and found out that there had been mutational GC-pressure with stronger asymmetric C-pressure in that gene before the preferable direction of nucleotide mutations changed. Current preferable direction of germline mutations in EGFR gene has been estimated with the help of Ensembl data base of gene variations. Preferable direction of somatic mutations in EGFR gene from cancer cells has been estimated with the help of COSMIC data base. Both germline and somatic mutations in cancer cells have t...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - April 5, 2019 Category: Cytology Source Type: research

Editorial Board
Publication date: March 2019Source: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 814Author(s): (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - March 7, 2019 Category: Cytology Source Type: research

High concentration of sugars is genotoxic to folate-deficient cells
Publication date: March 2019Source: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 814Author(s): Xihan Guo, Xueqin Dai, Juan Ni, Neng Cao, Guofang Yang, Jinglun Xue, Xu WangAbstractPatients with type 2 diabetes mellitus (T2DM) are associated with an elevated, but poorly understood baseline of genomic instability (GIN). Expert panels are still debating on whether hyperglycemia is the key element in conferring this high GIN. Since high blood glucose and low blood folate are prevalent in T2DM, we hypothesized that high glucose may work with low folate to induce GIN. Using NCM460, CCD841 and L02 ...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - January 23, 2019 Category: Cytology Source Type: research

Editorial Board
Publication date: January 2019Source: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 813Author(s): (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - January 12, 2019 Category: Cytology Source Type: research

Dimerization defective MODY mutations of hepatocyte nuclear factor 4α
In this report, we present a set of data for the two MODY1 mutations found right at the dimerization interface (L332 P and L328del mutations) which clearly exhibit the disruptive effects of directly affecting dimerization, protein stability, and transcriptional activities. These data reinforced the fact that MODY mutations are loss-of-function mutations and HNF4α dimerization is essential for its optimal function and normal physiology. (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - January 10, 2019 Category: Cytology Source Type: research

High Concentration of Sugars is Genotoxic in Folate Deficient Cells
Publication date: Available online 9 January 2019Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Xihan Guo, Xueqin Dai, Juan Ni, Neng Cao, Guofang Yang, Jinglun Xue, Xu WangAbstractPatients with type 2 diabetes mellitus (T2DM) are associated with an elevated, but poorly understood baseline of genomic instability (GIN). Expert panels are still debating on whether hyperglycemia is the key element in conferring this high GIN. Since high blood glucose and low blood folate are prevalent in T2DM, we hypothesized that high glucose may work with low folate to induce GIN. Using NCM460, CCD841...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - January 10, 2019 Category: Cytology Source Type: research

Molecular Interactions and Mutational Impact upon Rhodopsin (G90→D90) for Hindering Dark Adaptation of Eye: A Comparative Structural Level Outlook for Signaling Mechanism in Night Blindness
Publication date: Available online 4 January 2019Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Arundhati Banerjee, Sujay RayAbstractFor night blindness, a detailed structural exploration of the interactions among G-protein receptor rhodopsin, transducin and arrestin was performed. Rhodopsin is responsible for dim light vision while a point mutation (G90→D90) results in an adverse change in its photo-transduction. The validated 3D models of the three proteins were utilized, and upon mutation and interactions, rhodopsin attained higher stability (evaluated through thermodynamic ...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - January 5, 2019 Category: Cytology Source Type: research

Targeted sequencing to discover germline variants in the BRCA1 and BRCA2 genes in a Russian population and their association with breast cancer risk
In this study, we performed targeted sequencing of BRCA1/2 in 145 breast cancer (BC) patients with a family history of BRCA-associated cancers and 47 age-matched cancer-free control individuals with or without a family history of cancer. Subjects for this study were recruited in the Voronezh region of the Russian Federation. We found that two polymorphic variants, rs1799967 (BRCA1) and rs4987117 (BRCA2), were strongly associated with the risk of BC. Both variants have not been previously reported as associated with risk of breast cancer. Presence of the rs4987117 variant increases risk of breast cancer onset (OR =&t...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - January 4, 2019 Category: Cytology Source Type: research

Germline variants of BRCA1 and BRCA2 genes in population of Voronezh region of Russian Federation and their association with risk of breast cancer
In this study, we performed whole-gene analysis of BRCA1/2 in 145 breast cancer (BC) patients with family history of BRCA-associated cancers and 47 age-matched cancer-free control individuals with or without family history of cancer. Subjects for study were recruited in the Voronezh region of Russian Federation. We found that two polymorphic variants, rs1799967 (BRCA1) and rs4987117 (BRCA2), were strongly associated with the risk of BC. Both variants were not previously reported as associated with risk of breast cancer. Presence of rs4987117 variant increases risk of breast cancer onset (OR = 2.76, p-value&th...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - December 30, 2018 Category: Cytology Source Type: research

Eggplant fruits protect against DNA damage and mutations
This study demonstrated that these eggplants seem to be safe for consumption and their extracts could protect against DNA damage. Thus, these eggplants have the potential to provide health benefits associated with prevention or reduced risk of developing chronic diseases, such as cancer. (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - December 22, 2018 Category: Cytology Source Type: research

Mutation analysis of ZP1, ZP2, ZP3 and ZP4 genes in 152 Han Chinese samples with ovarian endometriosis
In conclusion, we identified two novel mutations in the ZP4 gene in 2.0% of Han Chinese patients with ovarian endometriosis for the first time, our results suggested that mutations in ZP4, but not ZP1, ZP2 and ZP3, might play active roles in the pathogenesis of ovarian endometriosis, despite the mutation-carriers present with complex fertility outcomes. (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - December 22, 2018 Category: Cytology Source Type: research

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