Mutation Research-Reviews in Mutation Research最新文献_第2页

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 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, 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 DOI: 10.1016/j.mrrev.2025.108553

Bashir Ahmad , John Sieh Dumbuya , Ji-Xin Tang , Wen Li , Xiuling Chen , Jun Lu

引用次数: 0

Trichothiodystrophy: Molecular insights and mechanisms of pathogenicity 毛硫营养不良：分子见解和致病性机制

IF 4.2 2区医学

Mutation Research-Reviews in Mutation Research Pub Date : 2025-07-01 DOI: 10.1016/j.mrrev.2025.108555

Manuela Lanzafame, Francesca Brevi, Gaia Veniali, Elena Botta

引用次数: 0

KRAS oncogenic mutations in benign tumors: adenomatoid odontogenic tumor as a model 良性肿瘤中的KRAS致癌突变：以腺瘤样牙源性肿瘤为模型

IF 6.4 2区医学

Mutation Research-Reviews in Mutation Research Pub Date : 2025-07-01 DOI: 10.1016/j.mrrev.2025.108552

Bruna Pizziolo Coura , Letícia Martins Guimarães , Ricardo Santiago Gomez , Carolina Cavaliéri Gomes

{"title":"KRAS oncogenic mutations in benign tumors: adenomatoid odontogenic tumor as a model","authors":"Bruna Pizziolo Coura , Letícia Martins Guimarães , Ricardo Santiago Gomez , Carolina Cavaliéri Gomes","doi":"10.1016/j.mrrev.2025.108552","DOIUrl":"10.1016/j.mrrev.2025.108552","url":null,"abstract":"<div><div>The KRAS protein is a GTPase that plays a role in the MAPK/ERK signaling pathway and <em>KRAS</em> is one of the most frequently mutated proto-oncogenes in malignant neoplasms, including aggressive tumors such as lung, pancreatic, and colorectal cancer. Mutations in <em>KRAS</em>, previously considered oncogenic drivers and hallmarks of cancer, have been observed at a high frequency in benign sporadic tumors, including those with negligible potential for malignant transformation. In line with that, <em>KRAS</em> mutations have recently been shown to be highly prevalent in adenomatoid odontogenic tumor (AOT). In the present paper, we review the spectrum of <em>KRAS</em> mutations reported in AOT to date and discuss the context dependence of KRAS oncogenicity. <em>KRAS</em> p.G12V and p.G12R mutations have been reported in approximately 70 % of AOT cases. The fact that the same spectrum of <em>KRAS</em> mutations is found in tumors with diverse clinical behavior reinforces the tissue and context specificity of <em>KRAS</em> mutation effects. Genome-wide-based future studies may provide clarification on the molecular pathogenesis of the <em>KRAS</em> wild-type cases, and could potentially unravel additional genetic events in mutation-positive cases. In this scenario, the clarification of the molecular pathogenesis of AOT, a benign tumor of indolent behavior, sheds light into how <em>KRAS</em> oncogenic mutations exert distinct effects depending on the biological context.</div></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"796 ","pages":"Article 108552"},"PeriodicalIF":6.4,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144569916","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

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

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

{"title":"Spectrum of BRCA1/2 pathogenic variants in Southern and Western Asia-a systematic review","authors":"Samra Khan , Ikram A. Burney , Mahrukh Nasir , Humaira Saleem , Muhammad Irfan , Muhammad Shakeel , Ishtiaq Ahmad Khan","doi":"10.1016/j.mrrev.2025.108549","DOIUrl":"10.1016/j.mrrev.2025.108549","url":null,"abstract":"<div><div><em>BRCA1</em>/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 <em>BRCA1/2</em> 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 <em>BRCA1</em>/2 variants from each study were re-interpreted using ClinVar and <em>BRCA</em> Exchange to determine pathogenicity. In both cohorts, the median age of BC diagnosis was < 40 years. A total of 159 <em>BRCA1</em> and 100 <em>BRCA2</em> PVs were reported in 772 index South Asian and Middle Eastern BC cases. Only 10 <em>BRCA1/2</em> PVs (6 %) overlapped between the two cohorts, while 141 <em>BRCA1</em> and 98 <em>BRCA2</em> PVs were exclusive to either SAARC or GCC cohorts. <em>BRCA1</em> c.68_69del was the most recurrent PV (n = 111). Overall, <em>BRCA1</em> PVs were prevalent in early-onset (83 %), triple-negative (95 %), and familial BC disease (80 %). In SAARC cohort, <em>BRCA1</em> exon 11 and <em>BRCA2</em> exon 15 were most frequently mutated exons. In GCC cohort, exon 18 of <em>BRCA1</em> and <em>BRCA2</em> exon 13 were the hotspot regions. Our findings highlight the necessity for population-specific genetic testing and indicate a clear regional genetic propensity in <em>BRCA</em> gene. To our knowledge, this dataset represents the largest collection of <em>BRCA1/2</em> PVs from SAARC and GCC nations, and may act as a resource for future studies.</div></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"796 ","pages":"Article 108549"},"PeriodicalIF":6.4,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144340573","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

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

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

{"title":"Nutritional bioactive compounds with beneficial effects for multiple sclerosis: Potential implication of G-Quadruplexes?","authors":"Anna Maria Malfitano, Giuliano Castellano, Alessandra Croce, Fabiana Napolitano, Giuseppe Portella, Francesco Beguinot, Pietro Formisano, Francesca Fiory","doi":"10.1016/j.mrrev.2025.108548","DOIUrl":"10.1016/j.mrrev.2025.108548","url":null,"abstract":"<div><div>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 <em>in vitro</em>, while sanguinarine, quercetin, curcumin and coumarin-quinolinium derivatives interact with G4 <em>in vivo</em> 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.</div></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"796 ","pages":"Article 108548"},"PeriodicalIF":6.4,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144250561","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

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 : 2025-05-27 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 , Michael H. Repacholi , Kenneth R. Foster , Mats-Olof Mattsson , Rodney J. Croft , Maria Rosaria Scarfi , 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":"2025-05-27","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

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

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

{"title":"From pathology to therapy: A comprehensive review of ATRX mutation related molecular functions and disorders","authors":"Fan Xu , Daohan Yu , Jiazheng Guo , Jingze Hu , Yunlei Zhao , Chuanlu Jiang , Xiangqi Meng , Jinquan Cai , Yan Zhao","doi":"10.1016/j.mrrev.2025.108537","DOIUrl":"10.1016/j.mrrev.2025.108537","url":null,"abstract":"<div><div>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.</div></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"795 ","pages":"Article 108537"},"PeriodicalIF":6.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143842565","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 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

Mutation Research-Reviews in Mutation Research Pub Date : 2025-01-01 DOI: 10.1016/j.mrrev.2025.108533

Michael D. Waters , Stafford G. Warren

{"title":"A tale of two drugs: Molnupiravir and Paxlovid","authors":"Michael D. Waters , Stafford G. Warren","doi":"10.1016/j.mrrev.2025.108533","DOIUrl":"10.1016/j.mrrev.2025.108533","url":null,"abstract":"<div><div>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.</div></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"795 ","pages":"Article 108533"},"PeriodicalIF":6.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143348055","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

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

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

引用次数: 0