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Advancing Our Understanding of Molecular Mechanisms in Radiation-Induced Normal Tissue Toxicity. 推进对辐射诱导正常组织毒性分子机制的认识。
IF 3.1 3区 生物学
Genes Pub Date : 2026-09-21 DOI: 10.3390/genes17091157
Rupak Pathak
{"title":"Advancing Our Understanding of Molecular Mechanisms in Radiation-Induced Normal Tissue Toxicity.","authors":"Rupak Pathak","doi":"10.3390/genes17091157","DOIUrl":"10.3390/genes17091157","url":null,"abstract":"<p><p>Radiation-induced normal tissue toxicity remains one of the most significant barriers to the safe and effective use of radiation in cancer therapy [...].</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"17 9","pages":""},"PeriodicalIF":3.1,"publicationDate":"2026-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13606049/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149060125","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Editorial for the Special Issue "Emerging Topics in Population Genetics and Molecular Anthropology: Integrating Genomes, Populations, and the Human Past". 《群体遗传学和分子人类学的新课题:整合基因组、种群和人类过去》特刊社论。
IF 3.1 3区 生物学
Genes Pub Date : 2026-09-21 DOI: 10.3390/genes17091158
Jelena Šarac, Dubravka Havaš Auguštin
{"title":"Editorial for the Special Issue \"Emerging Topics in Population Genetics and Molecular Anthropology: Integrating Genomes, Populations, and the Human Past\".","authors":"Jelena Šarac, Dubravka Havaš Auguštin","doi":"10.3390/genes17091158","DOIUrl":"10.3390/genes17091158","url":null,"abstract":"<p><p>Population genetics and molecular anthropology have undergone remarkable methodological and conceptual development over the past two decades [...].</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"17 9","pages":""},"PeriodicalIF":3.1,"publicationDate":"2026-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13606237/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149060244","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
STOML1 as an Exploratory Candidate Gene for Autosomal Dominant Iris and Chorioretinal Coloboma in a British Family. STOML1作为英国家族常染色体显性虹膜和脉络膜视网膜结肠瘤的探索性候选基因
IF 3.1 3区 生物学
Genes Pub Date : 2026-09-20 DOI: 10.3390/genes17091152
Vanita Berry, Manav B Ponnekanti, Nancy Aychoua, Maddy Ashwin Reddy, Michel Michaelides
{"title":"<i>STOML1</i> as an Exploratory Candidate Gene for Autosomal Dominant Iris and Chorioretinal Coloboma in a British Family.","authors":"Vanita Berry, Manav B Ponnekanti, Nancy Aychoua, Maddy Ashwin Reddy, Michel Michaelides","doi":"10.3390/genes17091152","DOIUrl":"10.3390/genes17091152","url":null,"abstract":"<p><strong>Background: </strong>Ocular coloboma is a congenital eye defect with high genetic heterogeneity. This study investigated a four-generation pedigree to identify candidate variants underlying autosomal dominant iris and chorioretinal coloboma.</p><p><strong>Methods: </strong>Whole-exome sequencing (WES) was performed on a single affected family member. Variants were prioritised using the Phenopolis pipeline, filtered for rarity across multiple population databases, and retained where CADD indicated predicted deleteriousness. Candidate variants were then validated by Sanger sequencing in the four family members from whom DNA was available. Variants were classified according to ACMG/AMP criteria.</p><p><strong>Results: </strong>Five rare heterozygous variants were identified: <i>STOML1</i> (NM_004809.5:c.1100T>C; p.(Leu367Pro)), <i>MTIF2</i> (NM_002453.3:c.1337G>A; p.(Trp446Ter)), <i>CDH23</i> (NM_022124.6:c.8906G>A; p.(Arg2969His)), <i>CDON</i> (NM_001378964.1:c.3276+1G>T; p.?), and <i>ERCC6L2</i> (NM_020207.7:c.19C>T; p.(Gln7Ter)). Four are classified as of uncertain significance; the <i>ERCC6L2</i> variant is classified as pathogenic in ClinVar.</p><p><strong>Conclusions: </strong><i>STOML1</i> is proposed as an exploratory candidate gene for isolated ocular coloboma, requiring replication in independent families and functional validation. The recurrent <i>ERCC6L2</i> nonsense variant is reported as an incidental finding of potential haematological relevance.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"17 9","pages":""},"PeriodicalIF":3.1,"publicationDate":"2026-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13606068/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149060252","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic Associations Among Appendicular Lean Mass, Alanine Aminotransferase, and Type 2 Diabetes: Multi-Dataset Mendelian Randomization and Colocalization at the SERPINA1 Candidate Locus. 阑尾瘦质量、丙氨酸转氨酶和2型糖尿病之间的遗传关联:SERPINA1候选位点的多数据孟德尔随机化和共定位。
IF 3.1 3区 生物学
Genes Pub Date : 2026-09-20 DOI: 10.3390/genes17091154
Xinyuan Wang, Wenchuan Yang, Shuhua Song, Huaiyi Su, Yu Zhang
{"title":"Genetic Associations Among Appendicular Lean Mass, Alanine Aminotransferase, and Type 2 Diabetes: Multi-Dataset Mendelian Randomization and Colocalization at the <i>SERPINA1</i> Candidate Locus.","authors":"Xinyuan Wang, Wenchuan Yang, Shuhua Song, Huaiyi Su, Yu Zhang","doi":"10.3390/genes17091154","DOIUrl":"10.3390/genes17091154","url":null,"abstract":"<p><p><b>Background/Objectives:</b> Appendicular lean mass (ALM), alanine aminotransferase (ALT), and type 2 diabetes (T2D) may be genetically linked. However, the ALT-related pathway and shared signals at the <i>SERPINA1</i> candidate locus remain uncertain. We used Mendelian randomization (MR) to evaluate associations among ALM, ALT, and T2D and compared candidate-locus signals across datasets. ALM represented muscle mass, not clinical sarcopenia. <b>Methods:</b> Using European-ancestry GWAS summary statistics, we performed six bidirectional two-sample MR analyses, multivariable MR (MVMR) with finite-sample t-based inference, and exploratory path-specific two-step MR. FinnGen R12 provided the T2D outcome data for MR and pathway analyses. Pathway analyses used 5000 shared-sampling bootstrap replicates to assess uncertainty in path estimates. We combined locus-level coloc/ABF with signal-specific SuSiE-coloc in the GRCh37 <i>SERPINA1</i> region. T2DGGI was used only for colocalization. Molecular-QTL and external-omics analyses were treated as supportive or limiting evidence. <b>Results:</b> Higher genetically predicted ALM was associated with lower ALT and lower T2D risk, whereas higher genetically predicted ALT was associated with greater T2D risk. T2D→ALT was method-dependent. In MVMR, the ALT conditional effect remained positive, whereas the ALM direct effect was model-dependent. Path decomposition was compatible with an ALT-related statistical pathway, but product- and difference-based estimates disagreed, and residual heterogeneity remained. ALM-T2DGGI supported an rs28929474-related shared component, although component-cohort overlap was possible. FinnGen supported other ALT-related signals but did not independently corroborate rs28929474. Tissue eQTL and external omics did not provide consistent mechanistic support. <b>Conclusions:</b> The data support directionally connected MR-based associations and dataset-dependent shared candidate signals. These findings do not establish biological mediation, a unique causal variant, gene-level causal assignment, or a molecular mechanism.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"17 9","pages":""},"PeriodicalIF":3.1,"publicationDate":"2026-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13606714/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149060300","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Complete Mitochondrial Genomes of Araiocypris batodes and Tanichthys huidongensis Provide Phylogenetic Evidence for the Reassignment of Araiocypris to Tanichthyidae. batoides和Tanichthys huidongensis的线粒体全基因组为araicypris重新归属于tanichyides科提供了系统发育证据。
IF 3.1 3区 生物学
Genes Pub Date : 2026-09-20 DOI: 10.3390/genes17091153
Liangjie Zhao, Chunhui Liu, Shufang Gao, Junjie Wang, Chaoqun Su, Chenxi Tan, Jiahui Liu, Gaoyou Yao, Xusheng Guo, Shaoyong Jing, Tiezhu Yang, Fan Li
{"title":"Complete Mitochondrial Genomes of <i>Araiocypris batodes</i> and <i>Tanichthys huidongensis</i> Provide Phylogenetic Evidence for the Reassignment of <i>Araiocypris</i> to Tanichthyidae.","authors":"Liangjie Zhao, Chunhui Liu, Shufang Gao, Junjie Wang, Chaoqun Su, Chenxi Tan, Jiahui Liu, Gaoyou Yao, Xusheng Guo, Shaoyong Jing, Tiezhu Yang, Fan Li","doi":"10.3390/genes17091153","DOIUrl":"10.3390/genes17091153","url":null,"abstract":"<p><p><b>Background/Objectives</b>: The monotypic genus <i>Araiocypris</i> is currently classified in Xenocyprididae, yet its familial placement has long been controversial and lacks sufficient molecular phylogenetic support. Mitogenomic resources for the family Tanichthyidae remain limited, and the phylogenetic relationship between <i>Araiocypris</i> and <i>tanichthyid</i> species remains unexplored. This study was conducted to re-evaluate the taxonomic status of <i>Araiocypris</i> and characterize the mitogenomic evolution of Tanichthyidae. <b>Methods</b>: The complete mitochondrial genomes of <i>Tanichthys huidongensis</i> and <i>Araiocypris batodes</i> were sequenced, assembled and annotated. Comparative mitogenomic analyses were performed across seven Tanichthyidae species. A maximum-likelihood phylogenetic tree was reconstructed using concatenated sequences of 13 protein-coding genes and 2 ribosomal RNA genes to clarify the phylogenetic position of <i>Araiocypris</i>. <b>Results</b>: Based on mitochondrial phylogenomic evidence, phylogenetic reconstruction strongly supports the reassignment of <i>A. batodes</i> from Xenocyprididae to Tanichthyidae, as it nests within the Tanichthyidae clade and forms a sister group with the genus <i>Tanichthys</i>. Genetic divergence analysis confirms the validity of <i>Araiocypris</i> as a distinct genus. Tanichthyidae mitogenomes display highly conserved architecture with the typical vertebrate gene order. All protein-coding genes undergo strong purifying selection, with <i>cox1</i> showing the slowest evolutionary rate. Conserved structural domains including CSB-F, CSB-E, CSB-D and CSB1-3 were identified in the control region. <b>Conclusions</b>: This study provides solid mitogenomic evidence for the familial reclassification of <i>Araiocypris</i> and systematically reveals the evolutionary patterns of Tanichthyidae mitogenomes, offering an important reference for further taxonomic and phylogenetic studies of Cypriniformes.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"17 9","pages":""},"PeriodicalIF":3.1,"publicationDate":"2026-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13606042/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149060343","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pharmacology-Informed Human Genetic Evaluation of Panax notoginseng Saponin-Related Candidate Genes for Functional Outcome After Ischemic Stroke Using Mendelian Randomization and Colocalization. 使用孟德尔随机化和共定位对三七皂苷相关候选基因进行缺血性卒中功能预后的药理学评估。
IF 3.1 3区 生物学
Genes Pub Date : 2026-09-20 DOI: 10.3390/genes17091155
Guoliang Deng, Tong Cui, Yifeng Xu, Wanning Gao, Nan Li, Lijuan Jiang, Wenfeng Zhang
{"title":"Pharmacology-Informed Human Genetic Evaluation of <i>Panax notoginseng</i> Saponin-Related Candidate Genes for Functional Outcome After Ischemic Stroke Using Mendelian Randomization and Colocalization.","authors":"Guoliang Deng, Tong Cui, Yifeng Xu, Wanning Gao, Nan Li, Lijuan Jiang, Wenfeng Zhang","doi":"10.3390/genes17091155","DOIUrl":"10.3390/genes17091155","url":null,"abstract":"<p><p><b>Background/Objectives:</b> Oral Xuesaitong soft capsules have been reported to improve functional outcomes after ischemic stroke, but their molecular mediators remain uncertain. We evaluated human genetic support for pharmacology-informed <i>Panax notoginseng</i> saponin-related candidate genes. <b>Methods:</b> A targeted pharmacological audit was followed by cis-QTL Mendelian randomization (MR) and regional colocalization using GISCOME outcomes. The severity-adjusted ordinal modified Rankin Scale (mRS) was primary. Eleven CKLF, KMO, and MT2A gene-tissue hypotheses formed the eQTL testing family; HMOX1 and OGA underwent pQTL analyses. A 13-test Bonferroni sensitivity calculation combined these hypotheses. Colocalization required PP.H4 ≥ 0.80. KMO analyses covered 15 GTEx tissues, three outcomes, and two external eQTL datasets. The summary-statistics study was not prospectively registered. <b>Results:</b> The audit identified 29 component-protein relations involving 19 proteins. Further, 7 of 11 eQTL hypotheses were harmonized. Higher genetically predicted KMO expression in whole blood was associated with better ordinal mRS (β = -0.906; 95% CI, -1.521 to -0.290; <i>p</i> = 0.0039; adjusted <i>p</i> = 0.043 for 11 tests and 0.051 for 13 tests). HMOX1 and OGA MR estimates were nonsignificant. Primary PP.H4 values were 0.033, 0.027, and 0.535 for HMOX1, OGA, and KMO, respectively. None of the 45 GTEx or six external comparisons met the criterion under primary priors. <b>Conclusions:</b> No candidate met the joint MR and colocalization criterion. KMO significance was sensitive to multiplicity and standard-error specification, while colocalization support was insufficient and prior-sensitive. These findings do not establish a therapeutic target or test the efficacy of oral Xuesaitong.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"17 9","pages":""},"PeriodicalIF":3.1,"publicationDate":"2026-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13606239/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149060333","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
BiMSGP: A Bidirectional Mamba-Based Model for Scalable and Accurate Genomic Prediction in Plants. BiMSGP:基于曼巴的双向可扩展和准确的植物基因组预测模型。
IF 3.1 3区 生物学
Genes Pub Date : 2026-09-20 DOI: 10.3390/genes17091156
Qingjie Liu, Xinwei Yao, Jinyan Ma, Huilin Cheng, Huahao Zhou, Licong Ding, Songyang Huai, Xu Liu
{"title":"BiMSGP: A Bidirectional Mamba-Based Model for Scalable and Accurate Genomic Prediction in Plants.","authors":"Qingjie Liu, Xinwei Yao, Jinyan Ma, Huilin Cheng, Huahao Zhou, Licong Ding, Songyang Huai, Xu Liu","doi":"10.3390/genes17091156","DOIUrl":"10.3390/genes17091156","url":null,"abstract":"<p><p><b>Background/Objectives:</b> Accurate prediction of complex traits from high-dimensional genomic markers remains difficult in plant breeding. Linear models have limited capacity for non-linear interactions, and many deep learning models scale poorly on long marker sequences. This study introduces BiMSGP, a bidirectional Mamba-based model for scalable genomic prediction. <b>Methods:</b> BiMSGP extends a selective state space model with forward and backward processing so that each marker can integrate sequence context from both directions while retaining linear computational complexity; this is a modeling device for long-range marker dependencies, not a demonstration of biological epistasis. Regression was evaluated on Wheat599, Wheat2000, and SoyBase, and classification on SoyBase, using 10-fold cross-validation with shared fold assignments and no inner validation split; the held-out fold was used for checkpoint selection, learning-rate adjustment, and reporting. Ablation studies compared bidirectional and unidirectional stacks and different depths. Exploratory paired tests of fold-wise PCC differences were used to distinguish numerical rank from a paired difference under this protocol. <b>Results:</b> Under the reported evaluation protocol, BiMSGP attained the numerically highest mean Pearson correlation coefficient (PCC) in all four Wheat599 environments, six of eight Wheat2000 traits, and five of seven quantitative SoyBase traits. Several of these numerical ranks did not have exploratory pt<0.05 against the strongest baseline; GBLUP had a higher mean PCC for SoyBase oil (pt=0.025). Shallow bidirectional designs had higher mean PCC than deeper and unidirectional variants on Wheat599 Environment 1. Training cost was higher than that of lightweight baselines on larger datasets, but inference remained in the millisecond range. <b>Conclusions:</b> Under this protocol, bidirectional selective state space modeling yielded competitive mean scores with a higher training cost than lightweight baselines. The scores are exploratory and may be optimistic; they are not unbiased estimates of generalization. Evaluation that separates model selection from assessment, and tests in independent populations, years, or environments, remains future work.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"17 9","pages":""},"PeriodicalIF":3.1,"publicationDate":"2026-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13606534/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149060226","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Phylogenetic Characteristics and Low-Temperature Response Expression Patterns of PmKIN Gene Family in Prunus mume. 梅子PmKIN基因家族的系统发育特征及低温响应表达模式
IF 3.1 3区 生物学
Genes Pub Date : 2026-09-20 DOI: 10.3390/genes17091151
Aiqin Ding, Ziwen Geng, Lulu Li, Lu Feng, Peng Wang
{"title":"Phylogenetic Characteristics and Low-Temperature Response Expression Patterns of <i>PmKIN</i> Gene Family in <i>Prunus mume</i>.","authors":"Aiqin Ding, Ziwen Geng, Lulu Li, Lu Feng, Peng Wang","doi":"10.3390/genes17091151","DOIUrl":"10.3390/genes17091151","url":null,"abstract":"<p><p><b>Background</b>: Kinesins are ATP-dependent molecular motors that mediate intracellular transport, cytoskeleton remodeling, and abiotic stress responses in plants. The <i>KIN</i> gene family remains poorly characterized in <i>Prunus mume</i>. This study aimed to explore the evolutionary features and cold-responsive functions of the <i>PmKIN</i> gene family. <b>Methods</b>: A systematic genome‑wide analysis was performed in <i>P. mume</i>. We performed phylogenetic classification, conserved domain detection, gene duplication and selection pressure analysis, cis-element prediction, tissue expression profiling, cold stress expression assay, and protein interaction network prediction. <b>Results</b>: Fifty <i>PmKIN</i> family members were defined and grouped into 10 subfamilies. K14 subfamily contained the largest number of members. All members harbor conserved motor domains, and segmental duplication drove the expansion of this gene family, which was overall constrained by purifying selection. The <i>PmKIN</i> homologous genes were highly conserved among Rosaceae species, including <i>Prunus persica</i>, <i>Prunus armeniaca</i>, <i>Prunus avium</i>, and <i>Malus domestica</i>. Our promoter analysis detected abundant cis-elements for light, hormone, cold, and drought signals in <i>PmKIN</i> genes, especially in the K14 and K7 subfamilies. These genes displayed tissue-biased expression, with roots and stems showing much higher transcript levels than fruits. Under low-temperature stress, the tolerant cultivar appeared to mount a relatively rapid <i>PmKIN</i> upregulation, whereas the sensitive one seemed to show a sluggish response and poor recovery. Three members (<i>PmKIN22/27/35</i>) were suggested to be potentially critical in low-temperature-response regulation. A 285-pair interaction network predicted PmKIN45 as the central hub, and functional predictions imply that PmKIN proteins may be linked to microtubules, hormone pathways, and stress signaling, possibly coordinating growth and low-temperature responses. <b>Conclusions</b>: This work screens candidate genes associated with low-temperature responses in <i>P. mume</i>, providing genetic resources for the molecular breeding of cold-resistant cultivars and expanded cultivation of <i>P. mume</i> and other ornamental horticultural species.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"17 9","pages":""},"PeriodicalIF":3.1,"publicationDate":"2026-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13606769/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149060339","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Comorbid Auditory and Visual Dysfunction: From Pathogenic Genes to Gene Therapy. 听觉和视觉共病:从致病基因到基因治疗。
IF 3.1 3区 生物学
Genes Pub Date : 2026-09-19 DOI: 10.3390/genes17091149
Jindie Hu, Chenyang Kong, Yu Sun
{"title":"Comorbid Auditory and Visual Dysfunction: From Pathogenic Genes to Gene Therapy.","authors":"Jindie Hu, Chenyang Kong, Yu Sun","doi":"10.3390/genes17091149","DOIUrl":"10.3390/genes17091149","url":null,"abstract":"<p><p>Hearing and vision are the most important sensory functions. Genetic studies have revealed that specific genetic mutations can concurrently induce auditory and visual dysfunction. Comorbid auditory and visual impairment limits mutual sensory compensation, thereby severely delaying speech, cognitive, and intellectual development in affected pediatric patients and imposing a profound burden on their families. In this review, we summarize 23 genes currently recognized to be associated with both auditory and visual impairment and classify them according to their underlying pathogenic mechanisms. Furthermore, recent advances in gene therapy have created new opportunities for the molecular treatment of inherited auditory and visual disorders, while local gene therapy trials targeting the eye or inner ear have shown encouraging clinical signals. However, most current approaches remain gene- or organ-specific, and several programs are still at the preclinical or early clinical stage. Therefore, we also summarize the latest progress of gene-based therapies and ongoing clinical trial programs targeting hereditary deafness and blindness, aiming to provide references and basis for the subsequent treatment of comorbid auditory and visual dysfunctions.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"17 9","pages":""},"PeriodicalIF":3.1,"publicationDate":"2026-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13606921/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149060198","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Vitexin Alleviates Knee Osteoarthritis-Associated Cartilage Damage Associated with F3 Modulation. 牡荆素缓解膝关节骨性关节炎相关软骨损伤与F3调节。
IF 3.1 3区 生物学
Genes Pub Date : 2026-09-19 DOI: 10.3390/genes17091148
Yanxiong Gu, Minshi Xiao, Ziyue Wu, Yunuo Shi, Wenhui Geng, Xingxiaoyu Lin, Xiaoqiang Yang
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