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 2026-09-06T11:58:38.906+00:00 60 https://www.frontiersin.org/articles/10.3389/fgene.2026.1827187 https://www.frontiersin.org/articles/10.3389/fgene.2026.1827187 <![CDATA[Mechanisms of acquired resistance to osimertinib in EGFR T790M-Positive lung adenocarcinoma]]> 2026-09-04T00:00:00Z Original Research Kefan CuiRenjie ZhuJingmeng Li https://www.frontiersin.org/articles/10.3389/fgene.2026.1895515 https://www.frontiersin.org/articles/10.3389/fgene.2026.1895515 <![CDATA[HSTXGB: a hyperparameter self-tuning XGBoost method integrating pre- and post-processing for gene regulatory network inference]]> 2026-09-04T00:00:00Z Original Research Mingqing HuangShun GuoFengze JiangYingnan XiongXu Chen https://www.frontiersin.org/articles/10.3389/fgene.2026.1875383 https://www.frontiersin.org/articles/10.3389/fgene.2026.1875383 <![CDATA[Influence of homozygosity on genomic structural variation analyses for predicting ACL rupture risk in the Labrador Retriever and Rottweiler]]> 2026-09-03T00:00:00Z Original Research Mehdi MomenFaris Hazim Mohamed ZaimirBrian W. DavisSusannah J. SamplePeter Muir 0.05 for all models). In contrast, inbreeding coefficient (FROH) was significantly associated with increased ACL rupture risk (OR = 2.011, 95% CI:1.120‐3.98, P‐value = 0.026) in the Rottweiler when sex and interaction effects were included in the model.ConclusionThese findings suggest a potential association between inbreeding and ACL rupture risk in Rottweilers. In addition, joint analysis of Labrador Retriever and Rottweiler data revealed multicollinearity between breed and homozygosity content, which highlights the heterogeneity of genetic risk factors across breeds. Our findings suggest that breed‐specific genetic models are crucial for understanding the genetic contribution to ACL rupture and for developing accurate genetic risk prediction tools. Given the relatively small and imbalanced Rottweiler dataset, independent validation in larger populations is warranted to further explore the potential breed‐specific genetic loci contributing to ACL rupture in the Rottweiler.]]> https://www.frontiersin.org/articles/10.3389/fgene.2026.1889156 https://www.frontiersin.org/articles/10.3389/fgene.2026.1889156 <![CDATA[Spectrum and carrier frequency of DMD in Yueyang, China: a population-based analysis using NGS and MLPA]]> 2026-09-03T00:00:00Z Original Research Qun ZhuAng SunYuyao ZuYan ZengLiya ChenYuan YangZhen LiuYuting SunXuzhen HuangXiaobu Shen T (p.E1168*) classified as LP.ConclusionThis first population-based study in Yueyang City, China, characterized the DMD carrier frequency (0.11%) and mutation spectrum among women of childbearing age or in early pregnancy. It revealed geographical heterogeneity and a high prevalence of CNVs, especially exon 45–55 deletions. Crucially, it highlights the underappreciated screening value of VUS. We recommend focused attention on VUS, particularly those with Bayesian scores ≥3, in genetic counseling and prenatal diagnosis to improve preventive strategies and reduce DMD incidence.]]> https://www.frontiersin.org/articles/10.3389/fgene.2026.1890433 https://www.frontiersin.org/articles/10.3389/fgene.2026.1890433 <![CDATA[Integrated transcriptomics approach identifies the upregulated SLC7A5, and associated pathways across different thyroid cancer cell types]]> 2026-09-03T00:00:00Z Original Research Muhammad NaeemNan WuYang WuShahid NawazRen JingYuanbin LuoShijian Yi https://www.frontiersin.org/articles/10.3389/fgene.2026.1847245 https://www.frontiersin.org/articles/10.3389/fgene.2026.1847245 <![CDATA[Opportunities to cultivate trust through communication behaviors]]> 2026-09-03T00:00:00Z Brief Research Report Mary Carol BarksClaire YballaAlexandra LinkerChau AmoeniGabrielle CuaMalley CraigBridget HeinThomas May https://www.frontiersin.org/articles/10.3389/fgene.2026.1836684 https://www.frontiersin.org/articles/10.3389/fgene.2026.1836684 <![CDATA[Preclinical evaluation of AL-001, a gene therapy for wet age-related macular degeneration]]> 2026-09-01T00:00:00Z Original Research Xuan LiuHaiyan LiuLei WangJulia ZhaoXingwang XieLong JiangChunlin Adam Zhao https://www.frontiersin.org/articles/10.3389/fgene.2026.1933643 https://www.frontiersin.org/articles/10.3389/fgene.2026.1933643 <![CDATA[DNA damage repair gene defects combined predict the efficacy of immune checkpoint inhibitors in metastatic castration-resistant prostate cancer: a retrospective cohort study]]> 2026-09-01T00:00:00Z Original Research Kesong QinGangqiang HuErli Song https://www.frontiersin.org/articles/10.3389/fgene.2026.1970828 https://www.frontiersin.org/articles/10.3389/fgene.2026.1970828 <![CDATA[Correction: Editorial: Hepatocellular carcinoma: from bench to bedside]]> 2026-09-01T00:00:00Z Correction Evin İşcanAaron B. KoenigXiaogang Wu https://www.frontiersin.org/articles/10.3389/fgene.2026.1812702 https://www.frontiersin.org/articles/10.3389/fgene.2026.1812702 <![CDATA[Clinical implementation of next-generation sequencing in tertiary health system: the Rijeka retrospective study]]> 2026-09-01T00:00:00Z Original Research Nina PerezaSanja Dević PavlićTea MladenićŽeljka HrupačkiDorotea Vukelić DraškovićLuca LovrečićAleš MaverJadranka VranekovićIva Bilić ČačeIgor PrpićIvona Butorac AhelVladimira VuletićKoraljka BenkoTea Čaljkušić ManceMarko KlarićNada Starčević ČizmarevićIvana Babić BožovićGoran HauserAlen RužićSaša OstojićBorut Peterlin https://www.frontiersin.org/articles/10.3389/fgene.2026.1865110 https://www.frontiersin.org/articles/10.3389/fgene.2026.1865110 <![CDATA[Integrated proteomic and metabolomic analyses define the molecular architecture of acute mountain sickness]]> 2026-09-01T00:00:00Z Original Research Wenjing DingYifan YangHuaying WeiXinyu HuHaopeng ZhangAilifeila AiliXiaolan ChenQiqi WangXinying XueLei Pan https://www.frontiersin.org/articles/10.3389/fgene.2026.1925751 https://www.frontiersin.org/articles/10.3389/fgene.2026.1925751 <![CDATA[Glycogen storage disease type VII (Tarui disease): a case report presenting a PFKM variant previously described only in canine models]]> 2026-09-01T00:00:00Z Case Report Mariapia GriffoNicola MolitiernoLaura NapoliMichela RipoloneSimona ZanottiFrancesco FortunatoGabriele TumminelloMaurizio MoggioMarco LocatelliStefania Paola CortiGiacomo Pietro ComiDario Ronchi T, p.Arg184Trp). This variant was previously identified in Wachtelhund dogs, a spontaneous animal model of PFK deficiency, but never reported in patients so far. PFK activity in skeletal muscle (PFKM) was found severely decreased and ultrastructural analysis revealed glycogen accumulation and mitochondrial alteration, supporting the pathogenetic role of the identified variant.]]> https://www.frontiersin.org/articles/10.3389/fgene.2026.1802493 https://www.frontiersin.org/articles/10.3389/fgene.2026.1802493 <![CDATA[A workshop considering genetic research and data collection with American Indian and Alaska Native people outside of Tribal jurisdiction]]> 2026-08-31T00:00:00Z Original Research Julie A. BeansJessica W. BlanchardVanessa Y. HiratsukaTaiawagi HeltonStephanie Russo CarrollDenise A. DillardRaymond OrrFrancine C. GachupinSara C. HullRodney C. HaringNanibaa’ A. GarrisonBobby SaunkeahKrystal S. TsosieAaron J. GoldenbergDavid WilsonRichard R. SharpJoseph YrachetaErika BlacksherR. Brian WoodburyDalaki LivingstonPaul Spicer https://www.frontiersin.org/articles/10.3389/fgene.2026.1932117 https://www.frontiersin.org/articles/10.3389/fgene.2026.1932117 <![CDATA[Case Report: Differential outcomes associated with the same pathogenic variant: long-term follow-up of a CHARGE syndrome case with a nonsense mutation c.6292C>T in the CHD gene]]> 2026-08-31T00:00:00Z Case Report Qiong-yu WangJing-jing HuangFu-chun WangJing-wei He T (p.Arg2098*), in the CHD7 gene. Literature review indicated that this pathogenic variant had been previously reported in cases that all resulted in infantile death. In contrast, our patient, following active multidisciplinary management, achieved significant improvement in multiple organ functions and survived to school age, where she now adapts well to a special education school environment. This case provides the first evidence that this pathogenic variant is compatible with a favorable long-term outcome, highlighting substantial phenotypic heterogeneity and prognostic diversity even among individuals carrying an identical genetic alteration.ConclusionThis case highlights the critical importance of early genetic diagnosis and coordinated multidisciplinary management in CHARGE syndrome. By presenting divergent outcomes associated with the same pathogenic variant, our findings enrich the clinical evidence on CHD7 genotype–phenotype correlations. Even with severe neonatal multisystem involvement, proactive and individualized management can achieve favorable long-term outcomes.]]> https://www.frontiersin.org/articles/10.3389/fgene.2026.1902866 https://www.frontiersin.org/articles/10.3389/fgene.2026.1902866 <![CDATA[Integrating machine learning and GWAS for variant prioritization in the INCIPE cohort highlights ABC transporter genes in chronic kidney disease]]> 2026-08-31T00:00:00Z Original Research Dagnogo DramaneMirko TreccaniLaura VeschettiN’Guessan Benedicte Sonia KoffiCristina PatuzzoPietro Manuel FerraroGiovanni GambaroDago Dougba NoelGiovanni Malerba https://www.frontiersin.org/articles/10.3389/fgene.2026.1835653 https://www.frontiersin.org/articles/10.3389/fgene.2026.1835653 <![CDATA[Lymphangiogenesis-related gene signature–based risk model for prognostic assessment of cervical cancer: immune–metabolic characterization and molecular subtype analysis]]> 2026-08-31T00:00:00Z Original Research Xijing FanLu ChenJing XuShunjie ZhengQi PanYifei Hu https://www.frontiersin.org/articles/10.3389/fgene.2026.1795147 https://www.frontiersin.org/articles/10.3389/fgene.2026.1795147 <![CDATA[Novel compound heterozygous SIL1 variants associated with Marinesco-Sjögren syndrome in a Chinese family]]> 2026-08-28T00:00:00Z Original Research Yizheng JiangAojie LianJialing Guo T (p. Ala247Val)). Subsequent functional experiments revealed that the mutations show a reduction in SIL1 mRNA and protein levels. Structural prediction and coimmunoprecipitation indicate that the compound variants may be associated with the development of MSS by weakening SIL1-BiP binding.ConclusionsThese findings expand the SIL1 variant spectrum and provide preliminary functional evidence that the identified variants may affect SIL1 abundance and SIL1-BiP interaction, supporting their relevance to the MSS phenotype in this family.]]> https://www.frontiersin.org/articles/10.3389/fgene.2026.1885466 https://www.frontiersin.org/articles/10.3389/fgene.2026.1885466 <![CDATA[Metabolomic analysis of children with congenital heart disease complicated by neurological developmental abnormalities and CHD7 mutations]]> 2026-08-28T00:00:00Z Original Research Xianghui HuangWanting LiYing LinDan LiHuiyue ZhangYuandan ChenWei ShengDeyi Zhuang https://www.frontiersin.org/articles/10.3389/fgene.2026.1881856 https://www.frontiersin.org/articles/10.3389/fgene.2026.1881856 <![CDATA[Homeostatic conflict as a driver for brain aging]]> 2026-08-28T00:00:00Z Mini Review Cristian A. Wulkop-GilMichael Petrascheck https://www.frontiersin.org/articles/10.3389/fgene.2026.1900277 https://www.frontiersin.org/articles/10.3389/fgene.2026.1900277 <![CDATA[Machine learning-integrated multi-omics risk prediction for pulmonary fungal infection in COPD and lung cancer: a transcriptomic and immune profiling study]]> 2026-08-28T00:00:00Z Original Research Yibin ZhangLujun Dai