Frontiers in Genetics | New and Recent Articles https://www.frontiersin.org/journals/genetics RSS Feed for Frontiers in Genetics | New and Recent Articles en-us Frontiers Feed Generator,version:1 2026-09-28T14:51:21.245+00:00 60 https://www.frontiersin.org/articles/10.3389/fgene.2026.1951476 https://www.frontiersin.org/articles/10.3389/fgene.2026.1951476 <![CDATA[The mutational and clinical spectrum of EYS-associated retinitis pigmentosa in an Eastern European and Northern Asian cohort: two recurrent founder alleles]]> 2026-09-28T00:00:00Z Original Research Marianna WeenerIgor HatsenkoInna ZolnikovaNatella ChincharauliMaria ShilovaAnna VengerOlga LunevaLarisa BalashovaJean SalmasiGennadiy Poryadin A (p.Cys385*) in 16 (20.3%) alleles, and c.8648_8655del (p.Thr2883Lysfs*4) in 15 (19.0%) alleles were the most frequent; together they accounted for 39.2% of alleles, with relatedness analysis supporting a shared founder origin. Median age of disease manifestation was 18 years and median BCVA 0.16 logMAR; worse acuity correlated with older age (rank correlation coefficient = 0.34, p = 0.035).ConclusionThis first description of the EYS spectrum in an Eastern European and Northern Asian cohort expands the allelic diversity of the gene, provides a genotype-phenotype description and defines two population-specific founder alleles amenable to targeted screening and future treatment.]]> https://www.frontiersin.org/articles/10.3389/fgene.2026.1908680 https://www.frontiersin.org/articles/10.3389/fgene.2026.1908680 <![CDATA[Copy number variants in fetuses with non-structural ultrasound abnormalities among pregnant women without adverse pregnancy history]]> 2026-09-28T00:00:00Z Original Research Jianwen LianLiubing LanWenjuan LuoLingna SheBosen ZhangHuaxian WangHua ZhongZhiyuan ZhengHeming WuLifang Lin https://www.frontiersin.org/articles/10.3389/fgene.2026.1890236 https://www.frontiersin.org/articles/10.3389/fgene.2026.1890236 <![CDATA[Alzheimer’s disease diagnosis based on gene selection and cross-tissue validation]]> 2026-09-28T00:00:00Z Original Research Xiaolan ZhangXiaotong TangQian BoYu MaFang ShiHongpeng Hou https://www.frontiersin.org/articles/10.3389/fgene.2026.1975296 https://www.frontiersin.org/articles/10.3389/fgene.2026.1975296 <![CDATA[Chromatin remodeling in bone organoids: from epigenetic regulation to disease modeling and therapeutic translation]]> 2026-09-28T00:00:00Z Review Yuxin ZhengDesheng LiuJun HouHong DingYingying He https://www.frontiersin.org/articles/10.3389/fgene.2026.1928986 https://www.frontiersin.org/articles/10.3389/fgene.2026.1928986 <![CDATA[Integrative bioinformatics screening of a M2 macrophage-associated gene signature for osimertinib resistance]]> 2026-09-28T00:00:00Z Original Research Yajie HuangYaozhong ZhangJian Shi https://www.frontiersin.org/articles/10.3389/fgene.2026.1916220 https://www.frontiersin.org/articles/10.3389/fgene.2026.1916220 <![CDATA[Multipath interaction network of annexin A2: multifaceted regulation and translational perspectives in neurological diseases]]> 2026-09-28T00:00:00Z Review Yong GuanPing GuDachuang GuoLiqiang HuangDongye LianCaicai ZhangJigao FengHao Peng https://www.frontiersin.org/articles/10.3389/fgene.2026.1856671 https://www.frontiersin.org/articles/10.3389/fgene.2026.1856671 <![CDATA[Quantitative analysis of proteostasis disruption following siRNA-mediated HSP70 depletion in HeLa cells]]> 2026-09-28T00:00:00Z Original Research Hatice Esenkaya https://www.frontiersin.org/articles/10.3389/fgene.2026.1855858 https://www.frontiersin.org/articles/10.3389/fgene.2026.1855858 <![CDATA[Case Report: Co-occurrence of Wilson disease and tuberous sclerosis complex in a Chinese patient]]> 2026-09-25T00:00:00Z Case Report Kun XiaShijing WangTong WuDandan SunWei WangXun WangYongsheng Han T; p.Arg778Leu), confirming WD, and an apparently de novo heterozygous pathogenic TSC2 frameshift variant (NM_000548.5: c.2816dup; p.Ser939ArgfsTer21). The TSC2 variant was absent in both tested parents, but biological parentage was not independently confirmed.ConclusionTo our knowledge, this is the first reported case of concomitant WD and TSC. Given their distinct genetic etiologies, including a de novo TSC2 variant in this patient, the co-occurrence is most appropriately interpreted as an exceptionally rare independent dual diagnosis rather than evidence of a biological link. The case highlights diagnostic overshadowing and the importance of renewed physical examination and expanded genetic testing when the clinical course becomes atypical for an established disorder.]]> https://www.frontiersin.org/articles/10.3389/fgene.2026.1904744 https://www.frontiersin.org/articles/10.3389/fgene.2026.1904744 <![CDATA[Epigenetic, chromatin-associated, and epitranscriptomic regulation in chronic pain: mechanisms and translational prospects]]> 2026-09-25T00:00:00Z Review Jianan YouLei Li https://www.frontiersin.org/articles/10.3389/fgene.2026.1760184 https://www.frontiersin.org/articles/10.3389/fgene.2026.1760184 <![CDATA[Bridging bone and muscle: ontology-driven prioritization of candidate genes at the osteoporosis–sarcopenia interface by gene ontology reverse lookup]]> 2026-09-25T00:00:00Z Original Research Simon ŽetkoLan VukolićAljoša ŠkorjancVladimir SmrkoljNejc Umek https://www.frontiersin.org/articles/10.3389/fgene.2026.1924019 https://www.frontiersin.org/articles/10.3389/fgene.2026.1924019 <![CDATA[A novel frameshift RPL15 gene variant associated with hydrops fetalis and perinatal death]]> 2026-09-25T00:00:00Z Original Research Xiaoling ChenKe WuBo Zhu https://www.frontiersin.org/articles/10.3389/fgene.2026.1952333 https://www.frontiersin.org/articles/10.3389/fgene.2026.1952333 <![CDATA[singIST: an R/bioconductor library and quarto dashboard for automated single-cell comparative transcriptomics analysis of disease models and humans]]> 2026-09-25T00:00:00Z Technology and Code Aitor Moruno-CuencaSergio Picart-ArmadaAlexandre Perera-LlunaFrancesc Fernández-Albert https://www.frontiersin.org/articles/10.3389/fgene.2026.1917203 https://www.frontiersin.org/articles/10.3389/fgene.2026.1917203 <![CDATA[Modified Bixuesan modulates inflammatory and apoptotic gene expression in post-radiotherapy chronic pharyngitis of laryngeal cancer: an integrative network pharmacology and in vitro validation study]]> 2026-09-24T00:00:00Z Original Research Dongqing LuXuxu GuoJun GaoYanming CaiXiaofei LiuLulu JiaoFei He https://www.frontiersin.org/articles/10.3389/fgene.2026.1958764 https://www.frontiersin.org/articles/10.3389/fgene.2026.1958764 <![CDATA[AI Agents and Agentic AI in plant breeding: new frontiers, opportunities and challenges]]> 2026-09-24T00:00:00Z Perspective Paolo VitaleDeepak Bhaskar AcharyaGuillermo GerardSusanne DreisigackerOsval A. Montesinos-LópezAbelardo Montesinos-LópezRodomiro OrtizJosé Crossa https://www.frontiersin.org/articles/10.3389/fgene.2026.1883811 https://www.frontiersin.org/articles/10.3389/fgene.2026.1883811 <![CDATA[Cord blood-based neonatal genetic screening for thalassemia in Guiyang, China (2015): a cross-sectional study]]> 2026-09-24T00:00:00Z Original Research Xiaoling LiangWen XiaSiqi LongLei HuCaili WangJingrong ZhangLei ZhangShu MoDanna Wei https://www.frontiersin.org/articles/10.3389/fgene.2026.1963011 https://www.frontiersin.org/articles/10.3389/fgene.2026.1963011 <![CDATA[A novel homozygous DLGAP5 splice-site variant in a woman with oocyte maturation arrest and recurrent IVF failure: a case report]]> 2026-09-24T00:00:00Z Case Report Prince JacobDeepa BhatAdithya G. UrsUma MaheshwariSiddaramappa Jagadish Patil A, in homozygous state in DLGAP5. Segregation analysis confirmed heterozygous carrier status in both parents, whereas the variant was absent from the apparently healthy male sibling. This report expands the mutational spectrum of DLGAP5 and highlights the value of genomic testing in women with recurrent IVF failure and an OMA-like embryology phenotype.]]> https://www.frontiersin.org/articles/10.3389/fgene.2026.1940629 https://www.frontiersin.org/articles/10.3389/fgene.2026.1940629 <![CDATA[Artificial intelligence for precision gene therapy: emerging technologies, clinical applications, and future directions]]> 2026-09-24T00:00:00Z Review Govinder FloraAbhinay Thakur https://www.frontiersin.org/articles/10.3389/fgene.2026.1823486 https://www.frontiersin.org/articles/10.3389/fgene.2026.1823486 <![CDATA[Identification of ion homeostasis-related genes as diagnostic biomarkers for pulmonary arterial hypertension via WGCNA and machine learning]]> 2026-09-24T00:00:00Z Original Research Yang ChenQiu ChenSenzhong Zheng https://www.frontiersin.org/articles/10.3389/fgene.2026.1873549 https://www.frontiersin.org/articles/10.3389/fgene.2026.1873549 <![CDATA[Integrated analysis of autophagy and ferroptosis mediating aristolochic acid A-induced nephrotoxicity via transcriptome and m6A epigenetic transcriptome in HK-2 cells]]> 2026-09-23T00:00:00Z Original Research Peichun YeWenqiang BaoDongcheng ZhangJiaxin WenWei ZhaoShuqi HuangLele YangHong HuAn Zhu https://www.frontiersin.org/articles/10.3389/fgene.2026.1984784 https://www.frontiersin.org/articles/10.3389/fgene.2026.1984784 <![CDATA[Correction: A workshop considering genetic research and data collection with American Indian and Alaska Native people outside of tribal jurisdiction]]> 2026-09-23T00:00:00Z Correction Julie A. BeansJessica BlanchardVanessa HiratsukaTaiawagi HeltonStephanie CarrollDenise DillardRaymond OrrFrancine C. GachupinSara HullRodney C. HaringNanibaa' A. GarrisonBobby SaukeahKrystal S. TsosieAaron GoldenbergDavid R. WisonRichard R. SharpJoseph YrachetaErika BlacksherRichard Brian WoodburyDalaki LivingstonPaul Spicer