Mutation Research-Reviews in Mutation Research最新文献

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Cancer risk associated with low-dose ionizing radiation: A systematic review of epidemiological and biological evidence 与低剂量电离辐射相关的癌症风险:流行病学和生物学证据的系统回顾。
IF 6.4 2区 医学
Mutation Research-Reviews in Mutation Research Pub Date : 2024-07-01 DOI: 10.1016/j.mrrev.2024.108517
Shu Min Tao , Le Le Wang , Min Da Li , Jing Wang , Hong Mei Gu , Long Jiang Zhang
{"title":"Cancer risk associated with low-dose ionizing radiation: A systematic review of epidemiological and biological evidence","authors":"Shu Min Tao ,&nbsp;Le Le Wang ,&nbsp;Min Da Li ,&nbsp;Jing Wang ,&nbsp;Hong Mei Gu ,&nbsp;Long Jiang Zhang","doi":"10.1016/j.mrrev.2024.108517","DOIUrl":"10.1016/j.mrrev.2024.108517","url":null,"abstract":"<div><div>The current radiation protection reference standards on stochastic cancer risk, drafted by the International Committee on Radiation Protection, are mostly based on the Life Span Study (LSS), though sufficient epidemiological and basic research evidence is lacking. The relationship between low-dose ionizing radiation (LDIR) and cancer risk is currently modeled with linear non-threshold (LNT) models. However, with the widespread use of medical examinations, the demand for substantial evidence of cancer risk under LDIR and the establishment of a threshold has become more significant. In the first part of the review, we summarize pivotal research in epidemiology, which includes the LSS, medical radiation studies, and occupational and environmental exposure studies. We describe and discuss solid cancers and hematopoietic malignancies induced by LDIR separately, attempting to identify the consistency and differences in the research results, and offering suggestions for future research directions. In the second part, we review recent progress in the underlying biology of cancer associated with LDIR. Besides the obvious harmful effect of DNA damage, chromosome aberrations caused by LDIR, epigenetic regulation also requires attention due to their relationship with carcinogenic and genetic risk. The multistage carcinogenesis model of stem cells, along with the varying effects of radiation on different tumors, may challenge the LNT model. Related research of stem cells, mitochondria and omic biology also offers promising directions for future research in this field.</div></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"794 ","pages":"Article 108517"},"PeriodicalIF":6.4,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142631429","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Advances in base editing: A focus on base transversions 碱基编辑的进展:聚焦碱基转换。
IF 6.4 2区 医学
Mutation Research-Reviews in Mutation Research Pub Date : 2024-07-01 DOI: 10.1016/j.mrrev.2024.108515
Dawei Wang , YiZhan Zhang , Jinning Zhang , JiaJun Zhao
{"title":"Advances in base editing: A focus on base transversions","authors":"Dawei Wang ,&nbsp;YiZhan Zhang ,&nbsp;Jinning Zhang ,&nbsp;JiaJun Zhao","doi":"10.1016/j.mrrev.2024.108515","DOIUrl":"10.1016/j.mrrev.2024.108515","url":null,"abstract":"<div><div>Single nucleotide variants (SNVs) constitute the most frequent variants that cause human genetic diseases. Base editors (BEs) comprise a new generation of CRISPR-based technologies, which are considered to have a promising future for curing genetic diseases caused by SNVs as they enable the direct and irreversible correction of base mutations. Two of the early types of BEs, cytosine base editor (CBE) and adenine base editor (ABE), mediate C-to-T, T-to-C, A-to-G, and G-to-A base transition mutations. Together, these represent half of all the known disease-associated SNVs. However, the remaining transversion (i.e., purine–pyrimidine) mutations cannot be restored by direct deamination and so these require the replacement of the entire base. Recently, a variety of base transversion editors were developed and so these add to the currently available BEs enabling the correction of all types of point mutation. However, compared to the base transition editors (including CBEs and ABEs), base transversion editors are still in the early development stage. In this review, we describe the basics and advances of the various base transversion editors, highlight their limitations, and discuss their potential for treating human diseases.</div></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"794 ","pages":"Article 108515"},"PeriodicalIF":6.4,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142511801","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A critical review of the impact of candidate copy number variants on autism spectrum disorder 候选拷贝数变异对自闭症谱系障碍影响的批判性回顾。
IF 6.4 2区 医学
Mutation Research-Reviews in Mutation Research Pub Date : 2024-07-01 DOI: 10.1016/j.mrrev.2024.108509
{"title":"A critical review of the impact of candidate copy number variants on autism spectrum disorder","authors":"","doi":"10.1016/j.mrrev.2024.108509","DOIUrl":"10.1016/j.mrrev.2024.108509","url":null,"abstract":"<div><p>Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder (NDD) influenced by genetic, epigenetic, and environmental factors. Recent advancements in genomic analysis have shed light on numerous genes associated with ASD, highlighting the significant role of both common and rare genetic mutations, as well as copy number variations (CNVs), single nucleotide polymorphisms (SNPs) and unique de novo variants. These genetic variations disrupt neurodevelopmental pathways, contributing to the disorder's complexity. Notably, CNVs are present in 10 %-20 % of individuals with autism, with 3 %-7 % detectable through cytogenetic methods. While the role of submicroscopic CNVs in ASD has been recently studied, their association with genomic loci and genes has not been thoroughly explored. In this review, we focus on 47 CNV regions linked to ASD, encompassing 1632 genes, including protein-coding genes and long non-coding RNAs (lncRNAs), of which 659 show significant brain expression. Using a list of ASD-associated genes from SFARI, we detect 17 regions harboring at least one known ASD-related protein-coding gene. Of the remaining 30 regions, we identify 24 regions containing at least one protein-coding gene with brain-enriched expression and a nervous system phenotype in mouse mutants, and one lncRNA with both brain-enriched expression and upregulation in iPSC to neuron differentiation. This review not only expands our understanding of the genetic diversity associated with ASD but also underscores the potential of lncRNAs in contributing to its etiology. Additionally, the discovered CNVs will be a valuable resource for future diagnostic, therapeutic, and research endeavors aimed at prioritizing genetic variations in ASD.</p></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"794 ","pages":"Article 108509"},"PeriodicalIF":6.4,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S138357422400022X/pdfft?md5=e9399b513982fbea099c4752ad14e8dc&pid=1-s2.0-S138357422400022X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141560213","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
State of art of micronuclei assay in exfoliative cytology as a clinical biomarker of genetic damage in oral carcinogenesis: A systematic review and meta-analysis 将脱落细胞学中的微核检测作为口腔癌发生过程中遗传损伤的临床生物标志物的最新进展:系统回顾与元分析》。
IF 6.4 2区 医学
Mutation Research-Reviews in Mutation Research Pub Date : 2024-07-01 DOI: 10.1016/j.mrrev.2024.108508
Vito Carlo Alberto Caponio , Fábio França-Vieira e Silva , Francesco Popolo , Sara Giugliano , Francesca Spizzirri , Alejandro I. Lorenzo-Pouso , María Elena Padín-Iruegas , Khrystyna Zhurakivska , Lorenzo Lo Muzio , Rosa María López-Pintor
{"title":"State of art of micronuclei assay in exfoliative cytology as a clinical biomarker of genetic damage in oral carcinogenesis: A systematic review and meta-analysis","authors":"Vito Carlo Alberto Caponio ,&nbsp;Fábio França-Vieira e Silva ,&nbsp;Francesco Popolo ,&nbsp;Sara Giugliano ,&nbsp;Francesca Spizzirri ,&nbsp;Alejandro I. Lorenzo-Pouso ,&nbsp;María Elena Padín-Iruegas ,&nbsp;Khrystyna Zhurakivska ,&nbsp;Lorenzo Lo Muzio ,&nbsp;Rosa María López-Pintor","doi":"10.1016/j.mrrev.2024.108508","DOIUrl":"10.1016/j.mrrev.2024.108508","url":null,"abstract":"<div><p>Oral squamous cell carcinoma (OSCC) is the most common oral malignancy, often preceded by oral potentially malignant disorders (OPMDs). Currently, no clinical biomarker exists to predict malignancy, necessitating OPMD follow-up. Habits and environmental factors, such as smoking, and alcohol consumption, influence OSCC onset. Increased micronuclei (MNs) formation has been observed in the development of OSCC. Non-invasive diagnostic tests like exfoliative cytology offer painless and regular monitoring options. This study evaluates the impact of tobacco, alcohol, and pesticide exposure on MNs occurrence in exfoliative cytology-collected oral mucosal cells, assessing their potential as non-invasive biomarker for OSCC development prediction and monitoring in high-risk patients. Despite results from this meta-analysis supporting the existence of a stepwise increase from controls to patients with OPMD to OSCC, the translation of these findings into clinical practice is limited due to intra- and inter-individual heterogeneity, as well as methodological variability in MNs quantification. Various factors contribute to this heterogeneity, including demographic variables, methodological variability of different laboratories, staining techniques, sample collection location, and patient characteristics. All these points were discussed to provide further insights and improve standardization for future studies.</p></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"794 ","pages":"Article 108508"},"PeriodicalIF":6.4,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1383574224000218/pdfft?md5=9421022e5a1b29e8257e387d4d794789&pid=1-s2.0-S1383574224000218-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141535757","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Use of micronucleus cytome assays with buccal cells for the detection of genotoxic effects: A systematic review and meta-analysis of occupational exposures to metals 利用口腔细胞微核试验检测基因毒性效应:对职业接触金属的系统回顾和荟萃分析。
IF 6.4 2区 医学
Mutation Research-Reviews in Mutation Research Pub Date : 2024-07-01 DOI: 10.1016/j.mrrev.2024.108510
Georg Wultsch , Armen Nersesyan , Michael Kundi , Michael Fenech , Florian Eibensteiner , Miroslav Mišík , Georg Krupitza , Franziska Ferk , Siegfried Knasmüller
{"title":"Use of micronucleus cytome assays with buccal cells for the detection of genotoxic effects: A systematic review and meta-analysis of occupational exposures to metals","authors":"Georg Wultsch ,&nbsp;Armen Nersesyan ,&nbsp;Michael Kundi ,&nbsp;Michael Fenech ,&nbsp;Florian Eibensteiner ,&nbsp;Miroslav Mišík ,&nbsp;Georg Krupitza ,&nbsp;Franziska Ferk ,&nbsp;Siegfried Knasmüller","doi":"10.1016/j.mrrev.2024.108510","DOIUrl":"10.1016/j.mrrev.2024.108510","url":null,"abstract":"<div><p>Micronucleus (MN) assays with buccal cells are at present widely used to investigate occupational exposures to genotoxic carcinogens. This article describes their use for the monitoring of metal exposed workers. We found in total 73 relevant articles, in the majority (97 %) increased MN and/or other nuclear anomalies were reported. Most studies were realized in South East Asia and South America. A variety of different occupations was studied including welders, electroplaters, painters, workers in battery recycling and production, tannery workers, dental technicians, miners, workers in foundries and smelters, and also subjects working in waste recycling, glass, aluminum and steel production. In many investigations the effects increased with the duration of the working period. The quality of individual studies was evaluated with a quality score tool. The number of cells was in most studies sufficient and DNA-specific stains were used. However, many studies have shortcomings, e.g. they focused solely on MN formation and did not evaluate anomalies, which provide additional information about the stability of the genetic material and acute cytotoxic effects. Only 35 % of the investigations contain quantitative information about exposures to metals and other toxicants. In 6 of these studies, correlations were observed between the concentrations of specific metals (As, Pb, Cr, Cd) in body fluids and MN frequencies. Taken together, the available data indicate that the MN assay can be used to detect chromosomal damage in metal exposed groups; furthermore, it enables also comparisons between subgroups differing in regard to their exposure and allows an estimation of the efficiency of protective measures. The exposure of workers to metals is currently controlled with chemical analytical measurements only, MN assays with buccal cells could contribute to further improve the safety at workplaces as they reflect the biological consequences including synergistic and antagonistic interactions between toxicants.</p></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"794 ","pages":"Article 108510"},"PeriodicalIF":6.4,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1383574224000231/pdfft?md5=4943cf678a2ed8b6508c8a462c726e4c&pid=1-s2.0-S1383574224000231-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141617499","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Mechanistic insights into cisplatin response in breast tumors: Molecular determinants and drug/nanotechnology-based therapeutic opportunities 乳腺肿瘤中顺铂反应的机理透视:分子决定因素和基于药物/纳米技术的治疗机会。
IF 6.4 2区 医学
Mutation Research-Reviews in Mutation Research Pub Date : 2024-07-01 DOI: 10.1016/j.mrrev.2024.108513
Mehrdad Hashemi , Elaheh Mohandesi Khosroshahi , Mehrnaz Kalhor Chegini , Saba Asadi , Zahra Hamyani , Yasamin Alsadat Jafari , Fatemeh Rezaei , Ramtin Khodaparast Eskadehi , Kimia Kia Kojoori , Faranak Jamshidian , Noushin Nabavi , Mina Alimohammadi , Mohsen Rashidi , Behnaz Mahmoodieh , Ramin Khorrami , Afshin Taheriazam , Maliheh Entezari
{"title":"Mechanistic insights into cisplatin response in breast tumors: Molecular determinants and drug/nanotechnology-based therapeutic opportunities","authors":"Mehrdad Hashemi ,&nbsp;Elaheh Mohandesi Khosroshahi ,&nbsp;Mehrnaz Kalhor Chegini ,&nbsp;Saba Asadi ,&nbsp;Zahra Hamyani ,&nbsp;Yasamin Alsadat Jafari ,&nbsp;Fatemeh Rezaei ,&nbsp;Ramtin Khodaparast Eskadehi ,&nbsp;Kimia Kia Kojoori ,&nbsp;Faranak Jamshidian ,&nbsp;Noushin Nabavi ,&nbsp;Mina Alimohammadi ,&nbsp;Mohsen Rashidi ,&nbsp;Behnaz Mahmoodieh ,&nbsp;Ramin Khorrami ,&nbsp;Afshin Taheriazam ,&nbsp;Maliheh Entezari","doi":"10.1016/j.mrrev.2024.108513","DOIUrl":"10.1016/j.mrrev.2024.108513","url":null,"abstract":"<div><p>Breast cancer continues to be a major global health challenge, driving the need for effective therapeutic strategies. Cisplatin, a powerful chemotherapeutic agent, is widely used in breast cancer treatment. However, its effectiveness is often limited by systemic toxicity and the development of drug resistance. This review examines the molecular factors that influence cisplatin response and resistance, offering crucial insights for the scientific community. It highlights the significance of understanding cisplatin resistance's genetic and epigenetic contributors, which could lead to more personalized treatment approaches. Additionally, the review explores innovative strategies to counteract cisplatin resistance, including combination therapies, nanoparticle-based drug delivery systems, and targeted therapies. These approaches are under intensive investigation and promise to enhance breast cancer treatment outcomes. This comprehensive discussion is a valuable resource to advance breast cancer therapeutics and address the challenge of cisplatin resistance.</p></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"794 ","pages":"Article 108513"},"PeriodicalIF":6.4,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142114125","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Methodologies for the detection and sequencing of the epigenetic-like oxidative DNA modification, 8-oxo-7,8-dihydroguanine 检测和测序类似表观遗传的 DNA 氧化修饰--8-氧代-7,8-二氢鸟嘌呤的方法。
IF 6.4 2区 医学
Mutation Research-Reviews in Mutation Research Pub Date : 2024-07-01 DOI: 10.1016/j.mrrev.2024.108516
Weiheng Kong , Yingqi Zhao , Xiaoxia Dai , Changjun You
{"title":"Methodologies for the detection and sequencing of the epigenetic-like oxidative DNA modification, 8-oxo-7,8-dihydroguanine","authors":"Weiheng Kong ,&nbsp;Yingqi Zhao ,&nbsp;Xiaoxia Dai ,&nbsp;Changjun You","doi":"10.1016/j.mrrev.2024.108516","DOIUrl":"10.1016/j.mrrev.2024.108516","url":null,"abstract":"<div><div>The human genome is constantly threatened by endogenous and environmental DNA damaging agents that can induce a variety of chemically modified DNA lesions including 8-oxo-7,8-dihydroguanine (OG). Increasing evidence has indicated that OG is not only a biomarker for oxidative DNA damage but also a novel epigenetic-like modification involved in regulation of gene expression in mammalian cells. Here we summarize the recent progress in OG research focusing on the following points: (i) the mechanism of OG production in organisms and its biological consequences in cells, (ii) the accurate identification of OG in low-abundance genomes and complex biological backgrounds, (iii) the development of OG sequencing methods. These studies will be helpful for further understanding of the molecular mechanisms of OG-induced mutagenesis and its potential roles in human development and diseases such as cancer.</div></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"794 ","pages":"Article 108516"},"PeriodicalIF":6.4,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142563829","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Objectives and achievements of the HUMN project on its 26th anniversary HUMN 项目 26 周年的目标和成就。
IF 6.4 2区 医学
Mutation Research-Reviews in Mutation Research Pub Date : 2024-07-01 DOI: 10.1016/j.mrrev.2024.108511
Michael Fenech , Nina Holland , Errol Zeiger , Peter Wushou Chang , Micheline Kirsch-Volders , Claudia Bolognesi , Helga Stopper , Lisbeth E. Knudsen , Siegfried Knasmueller , Armen Nersesyan , Philip Thomas , Varinderpal Dhillon , Permal Deo , Bernhard Franzke , Maria-Grazia Andreassi , Blanca Laffon , Karl-Heinz Wagner , Hannu Norppa , Juliana da Silva , Emanuela V. Volpi , Stefano Bonassi
{"title":"Objectives and achievements of the HUMN project on its 26th anniversary","authors":"Michael Fenech ,&nbsp;Nina Holland ,&nbsp;Errol Zeiger ,&nbsp;Peter Wushou Chang ,&nbsp;Micheline Kirsch-Volders ,&nbsp;Claudia Bolognesi ,&nbsp;Helga Stopper ,&nbsp;Lisbeth E. Knudsen ,&nbsp;Siegfried Knasmueller ,&nbsp;Armen Nersesyan ,&nbsp;Philip Thomas ,&nbsp;Varinderpal Dhillon ,&nbsp;Permal Deo ,&nbsp;Bernhard Franzke ,&nbsp;Maria-Grazia Andreassi ,&nbsp;Blanca Laffon ,&nbsp;Karl-Heinz Wagner ,&nbsp;Hannu Norppa ,&nbsp;Juliana da Silva ,&nbsp;Emanuela V. Volpi ,&nbsp;Stefano Bonassi","doi":"10.1016/j.mrrev.2024.108511","DOIUrl":"10.1016/j.mrrev.2024.108511","url":null,"abstract":"<div><p>Micronuclei (MN) are a nuclear abnormality that occurs when chromosome fragments or whole chromosomes are not properly segregated during mitosis and consequently are excluded from the main nuclei and wrapped within nuclear membrane to form small nuclei. This maldistribution of genetic material leads to abnormal cellular genomes which may increase risk of developmental defects, cancers, and accelerated aging. Despite the potential importance of MN as biomarkers of genotoxicity, very little was known about the optimal way to measure MN in humans, the normal ranges of values of MN in healthy humans and the prospective association of MN with developmental and degenerative diseases prior to the 1980’s. In the early 1980’s two important methods to measure MN in humans were developed namely, the cytokinesis-block MN (CBMN) assay using peripheral blood lymphocytes and the Buccal MN assay that measures MN in epithelial cells from the oral mucosa. These discoveries greatly increased interest to use MN assays in human studies. In 1997 the Human Micronucleus (HUMN) project was founded to initiate an international collaboration to (i) harmonise and standardise the techniques used to perform the lymphocyte CBMN assay and the Buccal MN assay; (ii) establish and collate databases of MN frequency in human populations world-wide which also captured demographic, lifestyle and environmental genotoxin exposure data and (iii) use these data to identify the most important variables affecting MN frequency and to also determine whether MN predict disease risk. In this paper we briefly describe the achievements of the HUMN project during the period from the date of its foundation on 9th September 1997 until its 26th Anniversary in 2023, which included more than 200 publications and 23 workshops world-wide.</p></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"794 ","pages":"Article 108511"},"PeriodicalIF":6.4,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1383574224000243/pdfft?md5=fd871687966df5756a12b1b7573a635c&pid=1-s2.0-S1383574224000243-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142134280","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Considerations on the scoring of telomere aberrations in vertebrate cells detected by telomere or telomere plus centromere PNA-FISH 通过端粒或端粒加中心粒Pna-fish检测脊椎动物细胞中端粒畸变的评分考虑。
IF 5.3 2区 医学
Mutation Research-Reviews in Mutation Research Pub Date : 2024-05-25 DOI: 10.1016/j.mrrev.2024.108507
Alejandro D. Bolzán
{"title":"Considerations on the scoring of telomere aberrations in vertebrate cells detected by telomere or telomere plus centromere PNA-FISH","authors":"Alejandro D. Bolzán","doi":"10.1016/j.mrrev.2024.108507","DOIUrl":"10.1016/j.mrrev.2024.108507","url":null,"abstract":"<div><p>Given that telomeres play a fundamental role in maintaining genomic stability, the study of the chromosomal aberrations involving telomeric sequences is a topic of considerable research interest. In recent years, the scoring of these types of aberrations has been used in vertebrate cells, particularly human cells, to evaluate the effects of genotoxic agents on telomeres and the involvement of telomeric sequences on chromosomal aberrations. Currently, chromosomal aberrations involving telomeric sequences are evaluated in peripheral blood lymphocytes or immortalized cell lines, using telomere or telomere plus centromere fluorescence <em>in situ</em> hybridization (FISH) with Peptide Nucleic Acid (PNA) probes (PNA-FISH). The telomere PNA probe is more efficient in the detection of telomeric sequences than conventional FISH with a telomere DNA probe. In addition, the intensity of the telomeric PNA-FISH probe signal is directly correlated with the number of telomeric repeats. Therefore, use of this type of probe can identify chromosomal aberrations involving telomeres as well as determine the telomere length of the sample. There are several mistakes and inconsistencies in the literature regarding the identification of telomere aberrations, which prevent accurate scoring and data comparison between different publications concerning these types of aberrations. The aim of this review is to clarify these issues, and provide proper terminology and criteria for the identification, scoring, and analysis of telomere aberrations.</p></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"794 ","pages":"Article 108507"},"PeriodicalIF":5.3,"publicationDate":"2024-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141158705","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Gastrointestinal tract exposure to particles and DNA damage in animals: A review of studies before, during and after the peak of nanotoxicology 动物胃肠道暴露于微粒和 DNA 损伤:纳米毒理学高峰期之前、期间和之后的研究综述。
IF 5.3 2区 医学
Mutation Research-Reviews in Mutation Research Pub Date : 2024-01-01 DOI: 10.1016/j.mrrev.2024.108491
Peter Møller, Martin Roursgaard
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