Mutation Research-Reviews in Mutation Research最新文献

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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
Mutation Research-Reviews in Mutation Research Pub Date : 2025-07-01 Epub 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
{"title":"Exposure to radiofrequency electromagnetic fields and IARC carcinogen assessment: Risk of Bias preliminary literature assessment for 10 key characteristics of human carcinogens","authors":"Myrtill Simkó ,&nbsp;Michael H. Repacholi ,&nbsp;Kenneth R. Foster ,&nbsp;Mats-Olof Mattsson ,&nbsp;Rodney J. Croft ,&nbsp;Maria Rosaria Scarfi ,&nbsp;Vijayalaxmi","doi":"10.1016/j.mrrev.2025.108545","DOIUrl":"10.1016/j.mrrev.2025.108545","url":null,"abstract":"<div><div>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].</div></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"796 ","pages":"Article 108545"},"PeriodicalIF":6.4,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144147331","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
Molecular insights and emerging therapeutic perspectives of the lncRNA GAS5/miR-21 axis in cancer, fibrosis, cardiovascular, and immune disorders lncRNA GAS5/miR-21轴在癌症、纤维化、心血管和免疫疾病中的分子见解和新兴治疗观点
IF 6.4 2区 医学
Mutation Research-Reviews in Mutation Research Pub Date : 2025-07-01 DOI: 10.1016/j.mrrev.2025.108551
Salma M.S. Ahmad , Fatemeh Abdullah M. Ahmadi , Roberta Giordo , Gavino Casu , Gheyath K. Nasrallaha , Hatem Zayed , Gianfranco Pintus
{"title":"Molecular insights and emerging therapeutic perspectives of the lncRNA GAS5/miR-21 axis in cancer, fibrosis, cardiovascular, and immune disorders","authors":"Salma M.S. Ahmad ,&nbsp;Fatemeh Abdullah M. Ahmadi ,&nbsp;Roberta Giordo ,&nbsp;Gavino Casu ,&nbsp;Gheyath K. Nasrallaha ,&nbsp;Hatem Zayed ,&nbsp;Gianfranco Pintus","doi":"10.1016/j.mrrev.2025.108551","DOIUrl":"10.1016/j.mrrev.2025.108551","url":null,"abstract":"<div><div>Non-coding RNAs (ncRNAs) have redefined the complexity of gene regulation, with the long non-coding (lncRNA) GAS5/miR-21 axis emerging as a critical determinant of cell fate across diverse pathological contexts. This review examines the molecular mechanisms by which GAS5 regulates miR-21 activity, thereby restoring tumor suppressor networks and controlling key pathways, including the PI3K/AKT, MAPK/ERK, and Wnt/β-catenin pathways. We detail how dysregulation of this axis fuels cancer progression, metastasis, therapy resistance, fibrosis, cardiovascular diseases, osteoporosis, osteoarthritis, and autoimmune conditions like systemic lupus erythematosus. Beyond its role as a master regulator of apoptosis, proliferation, and EMT, the GAS5/miR-21 interaction holds immense promise as a therapeutic target and a liquid biopsy biomarker. However, clinical translation demands solutions to major challenges, including RNA delivery barriers, context-dependent effects, and adaptive resistance. Leveraging multi-omics integration, gene-editing technologies, and personalized RNA therapeutics will be pivotal to overcoming these obstacles. By critically integrating current knowledge and outlining future directions, this review positions the GAS5/miR-21 axis at the forefront of next-generation ncRNA therapeutics. Harnessing its full potential could not only revolutionize treatment paradigms but also transform our understanding of RNA-driven disease networks.</div></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"796 ","pages":"Article 108551"},"PeriodicalIF":6.4,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144548777","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
Single nucleotide variants associated with colorectal cancer among Saudi patients: A systematic review 沙特患者中与结直肠癌相关的单核苷酸变异:一项系统综述
IF 4.2 2区 医学
Mutation Research-Reviews in Mutation Research Pub Date : 2025-07-01 Epub Date: 2025-09-23 DOI: 10.1016/j.mrrev.2025.108563
Ahmad M. Alamri , Abdullah A. Assiri , Najeeb Ullah Khan
{"title":"Single nucleotide variants associated with colorectal cancer among Saudi patients: A systematic review","authors":"Ahmad M. Alamri ,&nbsp;Abdullah A. Assiri ,&nbsp;Najeeb Ullah Khan","doi":"10.1016/j.mrrev.2025.108563","DOIUrl":"10.1016/j.mrrev.2025.108563","url":null,"abstract":"<div><h3>Objective</h3><div>To assess the variations in Single Nucleotide Polymorphisms (SNPs) that affect susceptibility of CRC in Saudi patients.</div></div><div><h3>Methods</h3><div>A systematic literature review was conducted following PRISMA guidelines. Electronic databases were searched from inception up to March 2025 using MeSH terms and keywords related to SNPs, Colorectal Cancer (CRC), and Saudi Arabia. Eligibility criteria mandated studies conducted on Saudi populations, including confirmed CRC cases and healthy controls (≥18 years), investigating SNP-CRC associations, and reporting risk estimates. Data on study characteristics, gene/SNP details, participant numbers, genotyping methods, risk estimates, p-values, and pathway categorization were extracted by two independent reviewers. The Newcastle-Ottawa Scale was used to assess the risk of bias in included case-control studies.</div></div><div><h3>Results</h3><div>Twenty-three case-control studies met the inclusion criteria, encompassing 2521 CRC cases and 2236 healthy controls. These studies investigated SNPs within 46 different genes. Significant associations (p &lt; 0.05) with CRC risk were identified across various biological pathways. SNPs in inflammation/immune response genes (e.g., <em>TNF-α</em>, <em>IL-17A</em>, <em>PD-1</em>, <em>CTLA-4</em>, <em>IL-10</em>, <em>TGFβ1</em>) showed both increased and decreased risk associations. Variations in DNA repair (<em>PARP-1, XRCC1, TP53</em>) and cellular protection/drug metabolism genes (<em>ABCC1, MDR1, GSTM1</em>) also modulated susceptibility. Furthermore, SNPs in signaling pathways (<em>VDR, MMP-2, NOTCH</em>) and membrane/RNA-related genes (<em>HER1, HER2, RETN, PRNCR1, HOTAIR</em>) were significantly associated with CRC risk. Some allele frequencies (CYP19A) appeared distinct in the Saudi population compared to others. Most studies (77 %) were assessed as having a low risk of bias, though hospital-based control recruitment was a common limitation.</div></div><div><h3>Conclusion</h3><div>This systematic review confirms that numerous SNPs are significantly associated with altered CRC susceptibility in the Saudi population. These findings highlight a complex genetic landscape and underscore the potential value of identified SNPs for developing population-specific CRC risk assessment tools and targeted screening programs in Saudi Arabia.</div></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"796 ","pages":"Article 108563"},"PeriodicalIF":4.2,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145118009","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
Impact of resveratrol on neutrophil extracellular traps 白藜芦醇对中性粒细胞胞外陷阱的影响
IF 6.4 2区 医学
Mutation Research-Reviews in Mutation Research Pub Date : 2025-07-01 DOI: 10.1016/j.mrrev.2025.108550
Mahboobeh Ghasemzadeh Rahbardar , Prashant Kesharwani , Amirhossein Sahebkar
{"title":"Impact of resveratrol on neutrophil extracellular traps","authors":"Mahboobeh Ghasemzadeh Rahbardar ,&nbsp;Prashant Kesharwani ,&nbsp;Amirhossein Sahebkar","doi":"10.1016/j.mrrev.2025.108550","DOIUrl":"10.1016/j.mrrev.2025.108550","url":null,"abstract":"<div><div>Neutrophil extracellular traps (NETs) and the process of NETosis have emerged as critical participants in various pathological conditions. Resveratrol, a natural polyphenol found in several plants, has received significant attention due to its potential therapeutic properties. The purpose of this review is to investigate how resveratrol affects NETs and NETosis. The molecular mechanisms underlying NET formation and its role in disease pathogenesis are discussed, highlighting the involvement of various cellular and molecular factors. Moreover, the effects of resveratrol on NET formation, release, and stability are reported, focusing on its potential as a modulator of NET-associated diseases. Studies investigating the effect of resveratrol on NETosis in different disease models, including lung injury, COVID-19, cancer, and hepatic ischemia-reperfusion injury, are also summarized. Furthermore, the potential mechanisms through which resveratrol exerts its effects on NETosis, including anti-inflammatory, antioxidant, and immunomodulatory properties, are elucidated. The review also addresses the challenges and future perspectives in the field, emphasizing the need for further research to fully understand the therapeutic potential of resveratrol in targeting NET-associated disorders. Generally, this review provides a comprehensive analysis of the impact of resveratrol on NETs and NETosis, shedding light on its potential as a therapeutic intervention in various pathological conditions characterized by excessive NET formation. However, further research is essential to clarify the detailed mechanisms through which resveratrol exerts its effects on NETosis and to determine optimal dosages and treatment procedures.</div></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"796 ","pages":"Article 108550"},"PeriodicalIF":6.4,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144534366","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
Neurogenetic biomarkers in epilepsy: A comprehensive narrative review of progression and therapeutic approaches 癫痫的神经遗传生物标志物:进展和治疗方法的综合叙述综述
IF 4.2 2区 医学
Mutation Research-Reviews in Mutation Research Pub Date : 2025-07-01 Epub Date: 2025-08-05 DOI: 10.1016/j.mrrev.2025.108556
Ramandeep Kaur Sidhu , Kousik Maparu , Khadga Raj Aran
{"title":"Neurogenetic biomarkers in epilepsy: A comprehensive narrative review of progression and therapeutic approaches","authors":"Ramandeep Kaur Sidhu ,&nbsp;Kousik Maparu ,&nbsp;Khadga Raj Aran","doi":"10.1016/j.mrrev.2025.108556","DOIUrl":"10.1016/j.mrrev.2025.108556","url":null,"abstract":"<div><div>Epilepsy is a multifaceted and heterogenous neurological disorder that affects an estimated 70 million people worldwide and is identified by recurrent or unprovoked seizure activity. Although there have been advances in pharmacotherapeutic treatments, approximately one-third of patients with epilepsy remain drug resistant, highlighting the need for personalised and mechanism-based strategies. Neurogenetic biomarkers are emerging as valuable instruments for translating the genetic findings to the bedside and may provide new opportunities within a more precise treatment paradigm in epilepsy. Neurogenetic biomarkers include single-nucleotide polymorphisms (SNPs), copy number variants (CNVs), and mutations in disease-specific genes that inform our knowledge about the genetic architecture of seizure susceptibility, seizure progression and therapeutic response. The main genes, such as SCN1A, KCNQ2, GRIN2A, LGI1, GABRA1, and CHRNA4, impact neuronal excitability, ion channel dynamics, and synaptic interactions. Variations of mTOR signaling pathways (TSC1, TSC2, DEPDC5) and mutations in epigenetic regulators (MECP2, CDKL5) implicated a multilayered structure in the mechanistic underpinnings of epileptogenesis. Neurogenetic biomarkers are increasingly relevant to clinical practice for refining diagnosis, predicting seizure onset, guiding drug selection, and determining surgical intervention. The integration of neurogenetic sampling with neuroimaging, electrophysiological, inflammatory, and molecular signatures can improve diagnostic precision and provide an evidence-based framework towards therapeutic stratification. Although challenges remain-such as genetic heterogeneity, variant interpretation, cost barriers, and ethical considerations, advances in next-generation sequencing, pharmacogenomics, and artificial intelligence are rapidly transforming these limitations into opportunities. Neurogenetic biomarkers hold transformative potential to redefine epilepsy care, enabling earlier diagnosis, individualized therapy, and improved long-term outcomes. As the field advances, they are poised to shift epilepsy management from reactive to predictive, and from generalized to precision-driven, initiating a new era of neurology.</div></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"796 ","pages":"Article 108556"},"PeriodicalIF":4.2,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144772249","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
The comet assay as a tool in human biomonitoring exposure to pesticides–A systematic review and meta-analysis 彗星试验作为人类农药暴露生物监测工具的系统综述和荟萃分析。
IF 4.2 2区 医学
Mutation Research-Reviews in Mutation Research Pub Date : 2025-07-01 Epub Date: 2025-10-14 DOI: 10.1016/j.mrrev.2025.108565
Marko Gerić , Amaya Azqueta , Peter Møller , Ezgi Eyluel Bankoglu , Goran Gajski , Lisa Giovannelli , Anja Haverić , Helga Stopper , Andrew Collins , Carina Ladeira
{"title":"The comet assay as a tool in human biomonitoring exposure to pesticides–A systematic review and meta-analysis","authors":"Marko Gerić ,&nbsp;Amaya Azqueta ,&nbsp;Peter Møller ,&nbsp;Ezgi Eyluel Bankoglu ,&nbsp;Goran Gajski ,&nbsp;Lisa Giovannelli ,&nbsp;Anja Haverić ,&nbsp;Helga Stopper ,&nbsp;Andrew Collins ,&nbsp;Carina Ladeira","doi":"10.1016/j.mrrev.2025.108565","DOIUrl":"10.1016/j.mrrev.2025.108565","url":null,"abstract":"<div><div>Exposure to pesticides, most usually in occupational settings, is associated with different adverse health effects. In this systematic review and meta-analysis, we have assessed the effects of pesticide exposure on the level of DNA strand breaks in human peripheral blood cells, measured by the comet assay, in human biomonitoring studies. The literature search led to 80 studies included in the review. Of these, 66 studies met the criteria to be used in the meta-analysis. Using standardized mean difference and 95 % confidence interval (CI), the meta-analyses show an increased level of DNA strand breaks in subjects exposed to pesticides (2.02, 95 % CI: 1.69, 2.35). Results originate mainly from studies on workers, with only a few studies on environmental pesticide exposure. Subgroup analysis indicates that all studies combined from middle-income countries have a higher effect size (2.22, CI: 1.84, 2.59, n = 55) than studies from high-income countries (1.09, CI: 0.41, 1.76, n = 11). This difference between middle- and high-income countries may be mostly due to legislative, economic, and socio-cultural aspects. It has to be pointed out that only 9 % of the studies were classified as having an overall low risk of bias, while 12 % of studies used exposure biomarkers. In conclusion, this systematic review and meta-analysis shows that exposure to pesticides is associated with increased levels of DNA strand breaks in human peripheral blood cells.</div></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"796 ","pages":"Article 108565"},"PeriodicalIF":4.2,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145304234","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
Non-coding RNAs in Wilson’s Disease: Plausible drivers of hepatic symptom heterogeneity 肝豆状核变性中的非编码rna:肝脏症状异质性的合理驱动因素
IF 4.2 2区 医学
Mutation Research-Reviews in Mutation Research Pub Date : 2025-07-01 Epub Date: 2025-11-22 DOI: 10.1016/j.mrrev.2025.108570
Neelanjana Sarkar , Arpan Saha , Shubhrajit Roy , Mainak Sengupta
{"title":"Non-coding RNAs in Wilson’s Disease: Plausible drivers of hepatic symptom heterogeneity","authors":"Neelanjana Sarkar ,&nbsp;Arpan Saha ,&nbsp;Shubhrajit Roy ,&nbsp;Mainak Sengupta","doi":"10.1016/j.mrrev.2025.108570","DOIUrl":"10.1016/j.mrrev.2025.108570","url":null,"abstract":"<div><div>Wilson’s disease (WD) is an autosomal recessive disorder caused by mutations in the <em>ATP7B</em> gene, which impair cellular copper excretion and lead to toxic copper accumulation in the liver, brain, and other organs. Clinically, WD presents with a broad spectrum of hepatic and neurological manifestations. The pronounced phenotypic variability among patients harboring identical <em>ATP7B</em> mutations, including affected siblings, suggests the influence of additional genetic and/or epigenetic factors such as non-coding RNAs (ncRNAs), in modulating disease presentation. This review explores the potential involvement of ncRNAs in shaping the hepatic phenotype of WD. Although a few transcriptomic and network-based studies in mouse models have underscored the relevance of ncRNAs in WD pathogenesis, there remains a paucity of research investigating their role in the spectrum of hepatic severity observed in human patients. To address this gap, we collated existing evidence on ncRNAs implicated in WD and further sought to predict additional candidate ncRNAs by aligning hepatic severity categories in WD with general liver diseases that exhibit similar clinical features. Through a systematic literature review, we identified dysregulated ncRNAs in these liver diseases that may serve as surrogates for WD severity groups. Furthermore, our <em>in silico</em> analyses highlighted several microRNAs (miRNAs) that, if upregulated, could downregulate <em>ATP7B</em> or its putative modifier genes, raising the possibility that miRNA dysregulation may phenocopy certain pathogenic effects of <em>ATP7B</em> mutations, especially in WD cases exhibiting missing heritability.</div></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"796 ","pages":"Article 108570"},"PeriodicalIF":4.2,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145568199","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
Genetic variations in zona pellucida glycoproteins: Implications for fertility and ART outcomes 透明带糖蛋白的遗传变异:对生育和抗逆转录病毒治疗结果的影响
IF 4.2 2区 医学
Mutation Research-Reviews in Mutation Research Pub Date : 2025-07-01 Epub Date: 2025-09-02 DOI: 10.1016/j.mrrev.2025.108560
Neha Rajput, Gagandeep Kaur Gahlay
{"title":"Genetic variations in zona pellucida glycoproteins: Implications for fertility and ART outcomes","authors":"Neha Rajput,&nbsp;Gagandeep Kaur Gahlay","doi":"10.1016/j.mrrev.2025.108560","DOIUrl":"10.1016/j.mrrev.2025.108560","url":null,"abstract":"<div><div>The success of Assisted Reproductive Technologies (ART), such as IVF and ICSI, relies heavily on the health of the oocyte, with abnormalities in oocyte morphology often leading to ART failure. The zona pellucida (ZP), an extracellular matrix surrounding the oocyte, plays a crucial role in sperm-egg recognition, species-specific fertilization, and protecting the embryo until implantation. This article investigates the impact of single nucleotide polymorphisms (SNPs) in the genes encoding ZP glycoproteins (<em>hZP1</em>, <em>hZP2</em>, <em>hZP3,</em> and <em>hZP4</em>) on fertility. Through a comprehensive meta-analysis of existing data, we identified 47 SNPs in <em>hZP1</em>, 17 in <em>hZP2</em>, 8 in <em>hZP3,</em> and 2 in <em>hZP4</em> from female patients undergoing infertility treatment. Most of these SNPs are localized within the zona domain, which is crucial for the polymerization and structural integrity of the ZP. Functional predictions, based on <em>in silico</em> tools, suggest that these SNPs lead to impaired ZP glycoprotein secretion, crosslinking, and fibril formation; resulting in conditions like empty follicle syndrome (EFS) or oocytes with a thin or absent ZP. These deficiencies could significantly affect oocyte viability and reduce ART success rates. It could also affect folliculogenesis. Our results highlight the importance of genetic screening in women experiencing ART failure, especially those with ZP abnormalities. Additionally, the absence of reported SNPs in the N-terminal domain of ZP2 which is crucial for sperm interaction, suggests a potential area for further investigation, particularly in morphologically normal oocytes that may harbor undetected SNPs.</div></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"796 ","pages":"Article 108560"},"PeriodicalIF":4.2,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144925139","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
Rett syndrome: Pathogenicity and regulation of MECP2 (human) and Mecp2 (mouse) genes and their protein products through various molecular mechanisms Rett综合征:MECP2(人)和MECP2(小鼠)基因及其蛋白产物通过多种分子机制的致病性和调控
IF 6.4 2区 医学
Mutation Research-Reviews in Mutation Research Pub Date : 2025-07-01 Epub Date: 2025-07-17 DOI: 10.1016/j.mrrev.2025.108553
Bashir Ahmad , John Sieh Dumbuya , Ji-Xin Tang , Wen Li , Xiuling Chen , Jun Lu
{"title":"Rett syndrome: Pathogenicity and regulation of MECP2 (human) and Mecp2 (mouse) genes and their protein products through various molecular mechanisms","authors":"Bashir Ahmad ,&nbsp;John Sieh Dumbuya ,&nbsp;Ji-Xin Tang ,&nbsp;Wen Li ,&nbsp;Xiuling Chen ,&nbsp;Jun Lu","doi":"10.1016/j.mrrev.2025.108553","DOIUrl":"10.1016/j.mrrev.2025.108553","url":null,"abstract":"<div><div>Rett syndrome was first described over 50 years ago as an unusual clinical entity. Mutations in the X-linked <em>MECP2</em> gene are the primary causes of Rett syndrome. The unstructured MeCP2 protein adopts various functional conformations, complicating its study. Researchers have investigated the pathogenicity and regulation of <em>MECP2</em> through mechanisms such as apoptosis, mitophagy, the PI3K/AKT/mTOR pathway, BMP signaling, NF-kB, STAT3, and the Wnt/β-catenin pathway. These mechanisms have not been reviewed in such detail before. Summarizing these pathways is essential for facilitating further exploration by researchers; therefore, we have comprehensively summarized these pathways.</div></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"796 ","pages":"Article 108553"},"PeriodicalIF":6.4,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144653948","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
Systematic review on toxicological effects of platinum nanoparticles: Towards their use as safe biomedical tools 铂纳米颗粒毒理学效应的系统综述:迈向其作为安全生物医学工具的应用
IF 4.2 2区 医学
Mutation Research-Reviews in Mutation Research Pub Date : 2025-07-01 Epub Date: 2025-11-06 DOI: 10.1016/j.mrrev.2025.108554
Assia Touzani , Lucía Ramos-Pan , Sónia Fraga , Natalia Fernández-Bertólez , Blanca Laffon , Vanessa Valdiglesias
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