Mutation Research-Reviews in Mutation Research最新文献_第4页

Spectrum of BRCA1/2 pathogenic variants in Southern and Western Asia-a systematic review 南亚和西亚BRCA1/2致病变异谱——系统综述

IF 6.4 2区医学 Q1 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Mutation Research-Reviews in Mutation Research

Pub Date : 2025-06-20 DOI: 10.1016/j.mrrev.2025.108549

Samra Khan , Ikram A. Burney , Mahrukh Nasir , Humaira Saleem , Muhammad Irfan , Muhammad Shakeel , Ishtiaq Ahmad Khan

BRCA1/2 germline variants account for 5–10 % of breast cancers (BC) or up to 25 % of hereditary breast cancers, yet data on their prevalence in South Asia and the Middle East remains limited. This study investigates germline BRCA1/2 pathogenic variants (PVs) in eight South Asian Association for Regional Cooperation (SAARC) and six Gulf Cooperation Council (GCC) countries, providing insights into the regional mutation landscape. Systematic literature search identified 46 studies and all reported BRCA1/2 variants from each study were re-interpreted using ClinVar and BRCA Exchange to determine pathogenicity. In both cohorts, the median age of BC diagnosis was < 40 years. A total of 159 BRCA1 and 100 BRCA2 PVs were reported in 772 index South Asian and Middle Eastern BC cases. Only 10 BRCA1/2 PVs (6 %) overlapped between the two cohorts, while 141 BRCA1 and 98 BRCA2 PVs were exclusive to either SAARC or GCC cohorts. BRCA1 c.68_69del was the most recurrent PV (n = 111). Overall, BRCA1 PVs were prevalent in early-onset (83 %), triple-negative (95 %), and familial BC disease (80 %). In SAARC cohort, BRCA1 exon 11 and BRCA2 exon 15 were most frequently mutated exons. In GCC cohort, exon 18 of BRCA1 and BRCA2 exon 13 were the hotspot regions. Our findings highlight the necessity for population-specific genetic testing and indicate a clear regional genetic propensity in BRCA gene. To our knowledge, this dataset represents the largest collection of BRCA1/2 PVs from SAARC and GCC nations, and may act as a resource for future studies.

BRCA1/2种系变异占乳腺癌（BC）的5-10%或高达25%的遗传性乳腺癌，但其在南亚和中东的患病率数据仍然有限。本研究调查了8个南亚区域合作联盟（SAARC）和6个海湾合作委员会（GCC）国家的种系BRCA1/2致病变异（pv），为区域突变格局提供了见解。系统文献检索确定了46项研究，并使用ClinVar和BRCA Exchange对每项研究中所有报告的BRCA1/2变异进行重新解释，以确定致病性。在这两个队列中，BC诊断的中位年龄为

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引用次数: 0

Nutritional bioactive compounds with beneficial effects for multiple sclerosis: Potential implication of G-Quadruplexes? 对多发性硬化症有益的营养生物活性化合物：g -四联体的潜在含义？

IF 6.4 2区医学 Q1 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Mutation Research-Reviews in Mutation Research

Pub Date : 2025-06-06 DOI: 10.1016/j.mrrev.2025.108548

Anna Maria Malfitano, Giuliano Castellano, Alessandra Croce, Fabiana Napolitano, Giuseppe Portella, Francesco Beguinot, Pietro Formisano, Francesca Fiory

Multiple sclerosis (MS) is an autoimmune neurodegenerative disease resulting in myelin destruction and consequent physical disability. Several nutritional molecules modulate genes of reported relevance in MS eliciting beneficial effects. Intriguingly, some of these molecules are able to bind G-Quadruplexes (G4), specific DNA secondary structures involved in the regulation of gene expression and function. For instance, epigallocatechingallate and thymoquinone are known to interact with G4 in vitro, while sanguinarine, quercetin, curcumin and coumarin-quinolinium derivatives interact with G4 in vivo affecting oncogene expression. Noteworthy, several genes involved in MS present G-rich sequences known to fold into G4. Thus, we suggest and speculate that G4 targeting through daily intake of nutritional bioactive molecules might represent a novel therapeutic approach to improve MS symptoms and progression.

多发性硬化症（MS）是一种自身免疫性神经退行性疾病，导致髓磷脂破坏和随之而来的身体残疾。一些营养分子调节基因报道相关的MS引发有益的影响。有趣的是，其中一些分子能够结合g -四联体（G4），这是参与基因表达和功能调节的特定DNA二级结构。例如，表没食子儿茶hingallate和百里醌已知在体外与G4相互作用，而血根碱、槲皮素、姜黄素和香豆素-喹啉衍生物在体内与G4相互作用，影响癌基因的表达。值得注意的是，一些与MS相关的基因存在富含g的序列，已知可折叠成G4。因此，我们建议并推测通过每日摄入营养生物活性分子靶向G4可能是改善MS症状和进展的一种新的治疗方法。

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引用次数: 0

Exposure to radiofrequency electromagnetic fields and IARC carcinogen assessment: Risk of Bias preliminary literature assessment for 10 key characteristics of human carcinogens 暴露于射频电磁场与IARC致癌物评估：偏倚风险对人类致癌物的10个关键特征的初步文献评估

IF 6.4 2区医学 Q1 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Mutation Research-Reviews in Mutation Research

Pub Date : 2025-05-27 DOI: 10.1016/j.mrrev.2025.108545

Myrtill Simkó , Michael H. Repacholi , Kenneth R. Foster , Mats-Olof Mattsson , Rodney J. Croft , Maria Rosaria Scarfi , Vijayalaxmi

This is the first assessment of evidence needed to determine whether exposure to radiofrequency electromagnetic fields (RF-EMF) exposures, below the levels recommended in the ICNIRP (2020) guidelines, can influence any of the ten key characteristics (KCs) of human carcinogens developed by the International Agency for Research on Cancer (IARC). We define the 10 KCs and their relevance to carcinogenesis; review in vivo and in vitro studies relevant to the KCs; and conduct a risk of bias (RoB) analysis using 6 criteria. We did not include KC studies on genotoxicity or oxidative stress since Romeo et al. (2024) and Meyer et al. (2024) recently published relevant systematic reviews, but note their respective conclusions. From the other 8 KCs we identified 119 in vitro and 40 in vitro measurements of in vivo studies through 30 June 2023, with 38 % reporting statistically significant effects of exposure. We identified a strong association between the quality of study and outcome, with those meeting more RoB criteria less likely to report statistically significant effects. Effects were reported over the entire frequency range, exposure levels, and biological endpoints with no apparent pattern of exposure parameters resulting in effects. Only KC10 (alters cell proliferation, cell death or nutrient supply) has sufficient studies to analyse, but the other KCs had few studies and diverse endpoints. A few relatively high-quality positive studies require follow-up through additional targeted studies. The heterogeneity and overall poor study quality suggest the need for high-quality studies on these endpoints, preferably adhering to standards such as the Organization for Economic Co-operation and Development [28].

这是为确定低于ICNIRP（2020）指南建议水平的射频电磁场（RF-EMF）暴露是否会影响国际癌症研究机构（IARC）制定的人类致癌物十大关键特征（KCs）中的任何一种所需证据的首次评估。我们定义了10种KCs及其与癌变的相关性；回顾与KCs相关的体内和体外研究；并使用6个标准进行偏倚风险（RoB）分析。由于Romeo et al.（2024）和Meyer et al.（2024）最近发表了相关的系统综述，我们没有纳入关于遗传毒性或氧化应激的KC研究，但请注意他们各自的结论。从其他8个KCs中，我们确定了截至2023年6月30日的119个体外和40个体内研究的体外测量，其中38% %报告了统计显着的暴露效应。我们发现研究质量和结果之间存在很强的相关性，那些符合更多RoB标准的研究不太可能报告统计上显著的效果。效应在整个频率范围、暴露水平和生物终点均有报道，没有明显的暴露参数模式导致效应。只有KC10（改变细胞增殖、细胞死亡或营养供应）有足够的研究来分析，但其他KCs的研究很少，终点也不同。一些相对高质量的阳性研究需要通过额外的针对性研究进行随访。异质性和总体较差的研究质量表明，需要对这些终点进行高质量的研究，最好遵循经济合作与发展组织（oecd）等标准。

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引用次数: 0

From pathology to therapy: A comprehensive review of ATRX mutation related molecular functions and disorders 从病理到治疗：ATRX突变相关分子功能和疾病的综合综述

IF 6.4 2区医学 Q1 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Mutation Research-Reviews in Mutation Research

Pub Date : 2025-01-01 DOI: 10.1016/j.mrrev.2025.108537

Fan Xu , Daohan Yu , Jiazheng Guo , Jingze Hu , Yunlei Zhao , Chuanlu Jiang , Xiangqi Meng , Jinquan Cai , Yan Zhao

ATRX (alpha-thalassemia/mental retardation, X-linked), a chromatin remodeler, is one of the most commonly mutated genes in human cancer. The ATRX protein functions as a histone chaperone, facilitating the proper folding and assembly of histone proteins into nucleosome cores. Investigations into its molecular mechanisms have significantly advanced our understanding of its roles in diseases associated with chromosomal instability and defective DNA repair. In this comprehensive review, we delineate ATRX's critical function in maintaining heterochromatin integrity and genomic stability under physiological conditions. We further explore the pathogenesis of ATRX-deficient tumors and ATRX syndrome, systematically evaluate current therapeutic strategies for these conditions, and propose novel perspectives on potential targeted therapies for ATRX-mutated malignancies. This review provides useful resource for regarding the etiology and treatment of ATRX deficiency-related diseases.

ATRX （α -地中海贫血/智力低下，x连锁）是一种染色质重塑基因，是人类癌症中最常见的突变基因之一。ATRX蛋白作为组蛋白伴侣蛋白，促进组蛋白正确折叠和组装成核小体核心。对其分子机制的研究大大提高了我们对其在染色体不稳定性和DNA修复缺陷相关疾病中的作用的理解。在这篇全面的综述中，我们描述了ATRX在生理条件下维持异染色质完整性和基因组稳定性的关键功能。我们进一步探讨了ATRX缺陷肿瘤和ATRX综合征的发病机制，系统评估了目前针对这些疾病的治疗策略，并提出了针对ATRX突变恶性肿瘤的潜在靶向治疗的新观点。本文综述为ATRX缺乏相关疾病的病因和治疗提供了有益的资源。

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引用次数: 0

A tale of two drugs: Molnupiravir and Paxlovid 这是一个关于两种药物的故事：莫努匹拉韦和Paxlovid

IF 6.4 2区医学 Q1 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Mutation Research-Reviews in Mutation Research

Pub Date : 2025-01-01 DOI: 10.1016/j.mrrev.2025.108533

Michael D. Waters , Stafford G. Warren

The orally administered antiviral drug Lagevrio or molnupiravir (MOV) and the combination antiviral drug nirmatrelvir/ritonavir or Paxlovid (PAX) have been shown to reduce the likelihood of hospitalization and death for high-risk patients with COVID-19. Clinical studies, including those comparing PAX and MOV, were reviewed; both drugs are effective in reducing morbidity and mortality in COVID patients, although PAX generally appears to be more efficacious. Both drugs received Emergency Use Authorization in the United States for mild to moderate COVID-19 infection, while only PAX has subsequently been given full FDA approval. The principal disadvantage of PAX is that it interacts with many commonly used drugs, while MOV does not. The purpose of this review is to summarize current information and knowledge about these two drugs. The two drugs have completely different mechanisms of action. PAX inhibits viral replication while MOV induces viral replication errors that are expected to lead to viral inactivation. There is, however, the potential that MOV also could mutate host DNA and cause the virus to mutate into variants with new features. The package insert for MOV states that patients should be notified of relevant toxicity issues before administration. Sensitive mutation detection/analysis studies, such as error corrected Next Generation Sequencing (ecNGS) or HPRT mutation detection assays, in MOV-treated patients are needed to establish the safety of MOV.

口服抗病毒药物Lagevrio或molnupiravir （MOV）和联合抗病毒药物nirmatrelvir/ritonavir或Paxlovid （PAX）已被证明可以降低高危COVID-19患者住院和死亡的可能性。回顾了临床研究，包括比较PAX和MOV的研究；这两种药物都能有效降低COVID - 19患者的发病率和死亡率，尽管PAX通常似乎更有效。这两种药物都在美国获得了用于轻度至中度COVID-19感染的紧急使用授权，而只有PAX随后获得了FDA的全面批准。PAX的主要缺点是它与许多常用药物相互作用，而MOV则没有。本综述的目的是总结目前关于这两种药物的信息和知识。这两种药物的作用机制完全不同。PAX抑制病毒复制，而MOV诱导病毒复制错误，从而导致病毒失活。然而，MOV也有可能使宿主DNA发生突变，导致病毒变异成具有新特征的变体。MOV的包装说明书指出，在给药前应告知患者相关的毒性问题。需要在MOV治疗的患者中进行敏感的突变检测/分析研究，例如纠正错误的下一代测序（ecNGS）或HPRT突变检测试验，以确定MOV的安全性。

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引用次数: 0

Decoding complexity: The role of long-read sequencing in unraveling genetic disease etiologies 解码复杂性：长读序列在揭示遗传疾病病因中的作用。

IF 6.4 2区医学 Q1 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Mutation Research-Reviews in Mutation Research

Pub Date : 2025-01-01 DOI: 10.1016/j.mrrev.2024.108529

Ran Xu , Mengmeng Zhang , Xiaoming Yang , Weiming Tian , Changyan Li

In recent years, next-generation high-throughput sequencing technology has been widely used in clinical practice for the identification and diagnosis of Mendelian diseases as an auxiliary detection method. Nevertheless, due to the limitations in read length and poor coverage of complex genomic regions, the etiology of many genetic diseases is unclear. Long-read sequencing (LRS) addresses these limitations of next-generation sequencing. LRS is an effective tool for the clinical study of the etiology of complex genetic diseases. In this review, we summarized the current research on the application of LRS in diseases across various systems. We also reported the improvements in the diagnostic rate and common variant types of LRS in different studies, providing a foundation for the discovery of new disease mechanisms, which is anticipated to play a crucial role in future research on genetic diseases.

近年来，下一代高通量测序技术作为一种辅助检测手段被广泛应用于临床，用于孟德尔病的鉴定和诊断。然而，由于阅读长度的限制和复杂基因组区域覆盖率低，许多遗传疾病的病因尚不清楚。长读测序（LRS）解决了下一代测序的这些局限性。LRS是复杂遗传病病因临床研究的有效工具。本文就LRS在不同系统疾病中的应用研究现状进行综述。我们还报道了不同研究中LRS的诊断率和常见变异类型的提高，为发现新的发病机制奠定了基础，有望在今后的遗传疾病研究中发挥重要作用。

引用次数: 0

The landscape of FGFR-TACC fusion in adult glioblastoma: From bench to bedside FGFR-TACC融合在成人胶质母细胞瘤中的前景：从实验到临床

IF 6.4 2区医学 Q1 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Mutation Research-Reviews in Mutation Research

Pub Date : 2025-01-01 DOI: 10.1016/j.mrrev.2025.108536

Jing Liu, Zheng Wang

Glioblastoma (GBM) is a lethal central nervous system tumor, characterized by extensive genomic alterations and high intra-tumoral heterogeneity. Gene fusions, derived from chromosomal translocations, deletions, and inversions, were increasingly recognized as key carcinogenic events, with the highest frequency of FGFR-TACC fusion in glioblastoma. As reported, FGFR3-TACC3 fusion mostly coexists with wild-type IDH status, and associates with better prognosis. Mechanistically, FGFR3-TACC3 fusions can constitutively activate non-canonical FGFR downstream pathways, induce aneuploidy, and participate in mitochondrial metabolism, thereby promoting cell proliferation and tumorigenesis. These functions, whether based on FGFR3 phosphorylation or not, are predominantly attributed to the specific domain of TACC3 that involved in regulating the localization and activation of fusion products. Several preclinical studies and clinical trials are being performed to evaluate the efficacy and safety of the FGFR-TACC fusion as a personalised therapeutic target, including the treatments with tyrosine kinase inhibitors, metabolic inhibitors, HSP90 inhibitors, coiled-coil peptide-mimetics, and targeted protein degraders. A subset of populations with FGFR-TACC-positive glioblastoma, after refined molecular screening strategies, may benefit from targeted therapies. Despite major progress in biotechnology, our understanding on the role of fusion events in glioblastoma represented by the FGFR-TACC is still in its infancy. Here, we highlight recent progress on FGFR-TACC fusion in human glioblastoma, emphasizing their molecular mechanisms and potential clinical value.

胶质母细胞瘤（GBM）是一种致命的中枢神经系统肿瘤，其特点是广泛的基因组改变和高度的肿瘤内异质性。来自染色体易位、缺失和倒位的基因融合越来越被认为是关键的致癌事件，胶质母细胞瘤中FGFR-TACC融合的频率最高。据报道，FGFR3-TACC3融合通常与野生型IDH共存，并与更好的预后相关。从机制上讲，FGFR3-TACC3融合可以组成性地激活非典型FGFR下游通路，诱导非整倍体，并参与线粒体代谢，从而促进细胞增殖和肿瘤发生。无论是否基于FGFR3磷酸化，这些功能主要归因于TACC3的特定结构域，该结构域参与调节融合产物的定位和激活。一些临床前研究和临床试验正在进行，以评估FGFR-TACC融合作为个性化治疗靶点的有效性和安全性，包括酪氨酸激酶抑制剂、代谢抑制剂、HSP90抑制剂、卷曲卷曲肽模拟物和靶向蛋白质降解剂的治疗。经过精细的分子筛选策略，fgfr - tacc阳性胶质母细胞瘤的一部分人群可能受益于靶向治疗。尽管生物技术取得了重大进展，但我们对以FGFR-TACC为代表的胶质母细胞瘤融合事件的作用的理解仍处于起步阶段。在这里，我们重点介绍了FGFR-TACC融合在人胶质母细胞瘤中的最新进展，强调了它们的分子机制和潜在的临床价值。

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引用次数: 0

HCN4 and arrhythmias: Insights into base mutations HCN4和心律失常：碱基突变的见解。

IF 6.4 2区医学 Q1 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Mutation Research-Reviews in Mutation Research

Pub Date : 2025-01-01 DOI: 10.1016/j.mrrev.2025.108534

Wei Fan , Xuemei Sun , Ruoran Yuan , Xiaojie Hou , Juyi Wan , Bin Liao

In the human sinoatrial node (SAN), HCN4 is the primary subtype among the four HCN (hyperpolarization activated cyclic nucleotide-gated) family subtypes. A tetramer of HCN subunits forms the ion channel conducting the hyperpolarization-activated “funny” current (I_f), which plays an important regulatory role in maintaining the pacemaker activity of the SAN. With the advancement of detection technologies over the past 20 years, the relationship between base mutations in the HCN4 gene encoding the HCN4 protein and arrhythmias has been continuously elucidated. The expression and kinetic changes of mutated channels were investigated in COS-7, CHO, HEK-293T cells, and Xenopus oocytes, but their functional changes were not elucidated in human myocardial cells. New genome editing methods, such as Base editor and Prime editor, use components of the CRISPR system and other enzymes to directly install single-gene mutation into cellular DNA without causing double-stranded DNA breaks, which reproduce and correct base mutations. In this review, we summarize all base mutations of the HCN4 gene, discuss the clinical characteristics and function of some base mutations, and combine base editors to explore the establishment of disease models and the potential for future gene correction.

在人窦房结（SAN）中，HCN4是四种HCN（超极化激活环核苷酸门控）家族亚型中的主要亚型。HCN亚基的四聚体形成离子通道，传导超极化激活的“滑稽”电流（If），这在维持SAN的起搏器活性中起着重要的调节作用。近20年来，随着检测技术的进步，编码HCN4蛋白的HCN4基因碱基突变与心律失常之间的关系不断被阐明。研究了突变通道在COS-7、CHO、HEK-293T细胞和爪蟾卵母细胞中的表达和动力学变化，但未发现其在人心肌细胞中的功能变化。新的基因组编辑方法，如碱基编辑器和Prime编辑器，使用CRISPR系统的组件和其他酶直接将单基因突变安装到细胞DNA中，而不会引起双链DNA断裂，从而复制和纠正碱基突变。在这篇综述中，我们总结了HCN4基因的所有碱基突变，讨论了一些碱基突变的临床特征和功能，并结合碱基编辑器来探讨疾病模型的建立和未来基因校正的潜力。

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引用次数: 0

Inverse dose protraction effects of high-LET radiation: Evidence and significance 高let辐射的逆剂量延长效应：证据和意义。

IF 6.4 2区医学 Q1 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Mutation Research-Reviews in Mutation Research

Pub Date : 2025-01-01 DOI: 10.1016/j.mrrev.2025.108530

Nobuyuki Hamada , Yusuke Matsuya , Lydia B. Zablotska , Mark P. Little

Biological effects of ionizing radiation vary with radiation quality, which is often expressed as the amount of energy deposited per unit length, i.e., linear energy transfer (LET). For acute irradiation, high-LET radiation generally produces greater biological effects than low-LET radiation, but little knowledge exists as to how dose protraction modifies effects. In this regard, inverse dose protraction effects (IDPEs) are phenomena in which dose protraction enhances effects, contrasting with sparing dose protraction effects in which dose protraction reduces effects. Here, we review the current knowledge on IDPEs of high-LET radiation. To the best of our knowledge, since 1967, 80 biology or epidemiology papers have reported IDPEs following external or internal high-LET irradiation with neutrons, deuterons, α-particles, light ions, or heavy ions. IDPEs of high-LET radiation have been described for biochemical changes in cell-free macromolecules, neoplastic transformation, cell death, DNA damage responses and gene expression changes in mammalian cell cultures of human or rodent origin, gene mutations, cytogenetic changes, cancer, non-cancer effects (e.g., testicular effects, cataracts, cardiovascular diseases) and life shortening in non-human mammals (rodents and dogs), and induction of lung cancer and bone tumors in humans. For external irradiation of mammalian cells in vitro and mammals in vivo, IDPEs of low- and high-LET radiation have been reported for radiation doses spanning in excess of three or four orders of magnitude in slightly different ranges, and for radiation dose rates both spanning over six orders of magnitude in different ranges. IDPEs of high-LET radiation in humans have been reported following internal exposure, but not external exposure. Manifestations and mechanisms of IDPEs of high-LET radiation are far less understood than those of low-LET radiation, warranting further studies that will be pivotal to assess the implications for radiation protection.

电离辐射的生物效应随辐射质量而变化，辐射质量通常表示为每单位长度沉积的能量量，即线性能量传递（LET）。对于急性照射，高let辐射通常比低let辐射产生更大的生物效应，但关于剂量延长如何改变效应的知识很少。在这方面，反向剂量延长效应（IDPEs）是指剂量延长增强效应的现象，而相对于剂量延长降低效应的保留剂量延长效应。在这里，我们回顾了目前关于高let辐射的idpe的知识。据我们所知，自1967年以来，80篇生物学或流行病学论文报道了用中子、氘核、α-粒子、轻离子或重离子进行外部或内部高let照射后的idpe。高let辐射的idpe已被描述为无细胞大分子的生化变化、肿瘤转化、细胞死亡、DNA损伤反应和人类或啮齿动物来源的哺乳动物细胞培养物中的基因表达变化、基因突变、细胞遗传学变化、非人类哺乳动物（啮齿动物和狗）的癌症、非癌症效应（例如睾丸效应、白内障、心血管疾病）和寿命缩短，以及在人类中诱导肺癌和骨肿瘤。对于体外哺乳动物细胞和体内哺乳动物细胞的外照射，已经报道了低let和高let辐射的idpe，辐射剂量在略微不同的范围内超过3或4个数量级，辐射剂量率在不同范围内超过6个数量级。高let辐射对人体的idpe有内部照射后的报告，但没有外部照射后的报告。与低let辐射相比，高let辐射的idpe表现和机制尚不清楚，因此需要进一步研究，这对评估辐射防护的影响至关重要。

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引用次数: 0

Eco-genotoxicology: A personal reflection 生态基因毒理学：个人反思。

IF 6.4 2区医学 Q1 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Mutation Research-Reviews in Mutation Research

Pub Date : 2025-01-01 DOI: 10.1016/j.mrrev.2025.108535

Awadhesh N. Jha

This reflective commentary provides a personal viewpoint of developments, over the last 3 decades, in the relatively new, multidisciplinary field of ‘eco-genotoxicology,’ also called ‘genetic ecotoxicology’. It aims to outline the scope of the subject area in relation to the historical development of the discipline, critically categorising accomplishments made, taking into account the available information. It also recognises limitations of the existing information and difficulties encountered in this challenging field. Where appropriate, the article makes comparisons to the advances made in human genetic toxicology and radiation biology. The article critically covers the applications of prevailing and emerging tools being used in the field, such as omics, in vitro methodologies, modelling approaches, and artificial intelligence (AI). It also identifies potential areas of development and attempts to credit some of the important personal contributions made in this exciting and challenging subject in relation to human and environmental health.

这篇反思性的评论提供了一个个人的发展观点，在过去的30年里，在相对较新的多学科领域“生态基因毒理学”，也被称为“遗传生态毒理学”。它旨在概述与学科历史发展相关的学科领域范围，对已取得的成就进行批判性分类，并考虑到现有信息。它还认识到现有资料的局限性和在这一具有挑战性的领域遇到的困难。在适当的情况下，本文对人类遗传毒理学和辐射生物学的进展进行了比较。本文批判性地涵盖了在该领域使用的流行和新兴工具的应用，例如组学，体外方法，建模方法和人工智能（AI）。它还确定了潜在的发展领域，并试图赞扬在这一与人类和环境健康有关的令人兴奋和具有挑战性的主题中作出的一些重要的个人贡献。

引用次数: 0