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 2026-06-06T06:40:41.672+00:00 60 https://www.frontiersin.org/articles/10.3389/fgene.2026.1825728 https://www.frontiersin.org/articles/10.3389/fgene.2026.1825728 <![CDATA[SIGMA: self-supervised inference of gene networks via masked auto-encoding]]> 2026-06-05T00:00:00Z Original Research Qian WangZiyi ZhangNan-Qing LiaoShibin YangZehua He https://www.frontiersin.org/articles/10.3389/fgene.2026.1765512 https://www.frontiersin.org/articles/10.3389/fgene.2026.1765512 <![CDATA[Exploration of candidate genes associated with rare SNVs in pulmonary stenosis using whole-exome sequencing and machine learning]]> 2026-06-05T00:00:00Z Original Research Yuting LiuSun ChenYongzhou LiangSuqiu HuangBingyao ZhangShuqi LiuLing YangLiqing ZhaoRang XuYurong Wu https://www.frontiersin.org/articles/10.3389/fgene.2026.1809097 https://www.frontiersin.org/articles/10.3389/fgene.2026.1809097 <![CDATA[Diagnostic yield of long-read sequencing for rare diseases: a systematic review]]> 2026-06-05T00:00:00Z Systematic Review Amal Abdulsalam IbrahimKhalid A. FakhroAtiyeh M. Abdallah https://www.frontiersin.org/articles/10.3389/fgene.2026.1840344 https://www.frontiersin.org/articles/10.3389/fgene.2026.1840344 <![CDATA[Genetic heterogeneity correlated with phenotypic variability in 6 Chinese families with Alport syndrome]]> 2026-06-05T00:00:00Z Original Research Jinghan GaoHuan ZhouLi ZhangZihan SuShiguo Liu A) was selected for in vitro functional studies.ResultsWe identified seven variants in six families, including autosomal dominant (COL4A3 c.352G>A, COL4A4 c.71 + 1G>C), autosomal recessive (COL4A3 c.2736dupA, c.4235G>T), X-linked (COL4A5 c.512del,COL4A5 c.3053del), and one spontaneous variant (COL4A3 c.3203G>A). Functional studies on the novel variants (COL4A3 c.3203G>A) demonstrated a significantly decrease significant decrease in the mRNA expression level in HEK293 T cells and the weakened cell migration ability.ConclusionWe identified four novel pathogenic changes causing AS, revealing the genetic heterogeneity of AS and expanding its genotype phenotype spectrum, holding significant implications for prenatal diagnosis.]]> https://www.frontiersin.org/articles/10.3389/fgene.2026.1764943 https://www.frontiersin.org/articles/10.3389/fgene.2026.1764943 <![CDATA[HMMR as a robust prognostic biomarker correlates with immune infiltration and cell cycle pathways in oral squamous cell carcinoma: a multi-cohort bioinformatics analysis based on TCGA and GEO databases]]> 2026-06-05T00:00:00Z Original Research Lingling LiuShiyan ChenHongxun GongXingfeng QiMaoxin Wang https://www.frontiersin.org/articles/10.3389/fgene.2026.1850332 https://www.frontiersin.org/articles/10.3389/fgene.2026.1850332 <![CDATA[Identification of QTL associated with pod number in soybean]]> 2026-06-04T00:00:00Z Original Research Yajun XiongHuan YuAlu MaoSawaira JadoonZhiyu LiuKanglin LiuZhiqing ZhangYijie ChenBernard Gyebi-NimakoLijuan QiuJun Wang https://www.frontiersin.org/articles/10.3389/fgene.2026.1857794 https://www.frontiersin.org/articles/10.3389/fgene.2026.1857794 <![CDATA[Case report: novel DNAH11 compound heterozygous variants including an exon 30–54 duplication in a child with a highly suggestive primary ciliary dyskinesia phenotype]]> 2026-06-04T00:00:00Z Case Report Shun WangYuyi ZhangMin WuYanyu HeSainan ChenXueyun XuMeng LvJiapeng JiYuqing Wang C, p.Thr2186Pro) and a previously unreported maternally derived intragenic duplication encompassing exons 30–54. The missense variant was confirmed by Sanger sequencing, and the exon-level dosage gain was confirmed by qPCR. This case expands the spectrum of DNAH11 variants and highlights the importance of incorporating CNV detection into exome-based diagnostic process for children with a highly suggestive PCD phenotype.]]> https://www.frontiersin.org/articles/10.3389/fgene.2026.1786287 https://www.frontiersin.org/articles/10.3389/fgene.2026.1786287 <![CDATA[The effect of human-specific genetic variants on neuronal spinogenesis]]> 2026-06-03T00:00:00Z Review Nicolás Matías RosasAnna SzombathyKinga Szigeti https://www.frontiersin.org/articles/10.3389/fgene.2026.1792190 https://www.frontiersin.org/articles/10.3389/fgene.2026.1792190 <![CDATA[Derivation of prediction error variance for non-genotyped individuals in genomic selection]]> 2026-06-03T00:00:00Z Methods Vinícius Silva JunqueiraMarcos Jun-Iti YokooFernando Flores Cardoso https://www.frontiersin.org/articles/10.3389/fgene.2026.1776108 https://www.frontiersin.org/articles/10.3389/fgene.2026.1776108 <![CDATA[Temporal trends in artemisinin partial resistance and other antimalarial drug mutations in Plasmodium falciparum from Kagera region, Northwestern Tanzania, 2021–2023]]> 2026-06-03T00:00:00Z Brief Research Report Alfred SimkinSalehe S. MandaiAbebe A. FolaNeeva Wernsman YoungJacob MarglousDativa PereusCatherine BakariRashid A. MadebeMisago D. SethRule B. MrengelaAngelina J. KisambaleGervas A. ChachaCeline I. MandaraFilbert FrancisDaniel MbwamboIssa GarimoFrank ChackySijenunu AaronAbdallah LusasiFabrizio MolteniRitha J. A. NjauStella KajangeSamwel L. NhigaAlly MohamedJonathan J. JulianoDeus S. IshengomaJeffrey A. Bailey https://www.frontiersin.org/articles/10.3389/fgene.2026.1779086 https://www.frontiersin.org/articles/10.3389/fgene.2026.1779086 <![CDATA[Biobank consent preferences and implications for a mixed consent model: biomedical researchers vs. community stakeholders in a semi-urban Yoruba community, Nigeria]]> 2026-06-03T00:00:00Z Original Research Olubunmi A. Ogunrin https://www.frontiersin.org/articles/10.3389/fgene.2026.1820930 https://www.frontiersin.org/articles/10.3389/fgene.2026.1820930 <![CDATA[Genetic variation at the IL-18–137C>G is associated with poor sepsis prognosis and enhanced inflammatory responses: a multicenter hospital-based study]]> 2026-06-03T00:00:00Z Original Research Zhuoji LiWanjie GuLizhen LiuJiekai LiManting ZhangWanchun YangMeiting YangJingqi ZhangHaotian ZhongYuchun LiuJunbing HeHaiyan YinYiming Shao G) polymorphism in sepsis susceptibility, progression, and patient prognosis.MethodsA multicenter case-control study was conducted with 784 sepsis patients and 776 healthy controls. The IL-18 rs187238 polymorphism was genotyped using imLDR™ multiplex SNP genotyping method. ELISA and qRT-PCR were used to detect related inflammatory cytokine expression, while functional analysis was performed using dual-luciferase assays to evaluate the impact of the rs187238 variant on IL-18 promoter activity.ResultsWe observed a significant association between the rs187238 polymorphism and 28-day ICU mortality in sepsis patients. The CG/GG genotypes (OR = 1.470, 95% CI = 1.029–2.129, P = 0.037) were more frequently observed in non-survivors compared to survivors, with a notable difference in the frequency of the G allele (OR = 1.534, 95% CI = 1.111–2.133, P = 0.010). Kaplan-Meier survival analysis confirmed that patients with CG/GG genotypes had significantly lower 28-day survival rates compared to those with the CC genotype (P = 0.028). However, no significant differences in genotype and allele frequencies were observed between cases and healthy controls, nor between sepsis and septic shock patients. Sepsis patients with CG/GG genotypes had significantly higher IL-18 levels than those with the CC genotype. Dual-luciferase assays confirmed that the G allele increased IL-18 promoter activity, supporting its genetic influence on IL-18 expression. Additionally, sepsis patients with CG/GG genotypes expressed significantly increased levels of IL-1β, IL-6, and ICAM-1 than those with CC genotype. IL-18 treatment enhanced the expression of IL-1β, IL-6, IL-27, TNF-α, and MCP-1 in THP-1 macrophages upon LPS stimulation. In HUVECs, IL-18 treatment further enhanced LPS-induced IL-6, IL-27, TNF-α, and ICAM-1 expression, while promoting apoptosis and reducing VE-cadherin levels, emphasizing its role in inflammation and endothelial dysfunction in sepsis.ConclusionThe IL-18 rs187238 C>G polymorphism is linked to higher IL-18 expression and intensified inflammatory responses, which are associated with poor sepsis prognosis. The sepsis-associated risk rs187238-G allele serves as a potential prognostic biomarker for sepsis-related mortality. Targeting IL-18 or its genetic variations might offer new avenues for sepsis therapy.]]> https://www.frontiersin.org/articles/10.3389/fgene.2026.1814462 https://www.frontiersin.org/articles/10.3389/fgene.2026.1814462 <![CDATA[Pathogenic mechanisms of RPGR mutations in X-linked retinitis pigmentosa: integrating clinical pedigree and single-cell transcriptomics]]> 2026-06-02T00:00:00Z Original Research XinRong WangYuYang BaiXiaoYang ZuoXiaoYin LeiXue WangGang Zou https://www.frontiersin.org/articles/10.3389/fgene.2026.1875072 https://www.frontiersin.org/articles/10.3389/fgene.2026.1875072 <![CDATA[Editorial: Circular RNAs: from anomalies to cellular regulators]]> 2026-06-02T00:00:00Z Editorial Davide BarbagalloRosanna ChianeseFrancesco Manfrevola https://www.frontiersin.org/articles/10.3389/fgene.2026.1796970 https://www.frontiersin.org/articles/10.3389/fgene.2026.1796970 <![CDATA[Molecular characterization of a rare heterozygous APOA5 variant in a Chinese family with moderate hypertriglyceridemia]]> 2026-06-02T00:00:00Z Original Research Hongxia LiuXiao YuanJie WangYuande MaoJinxi WangDongli WangFang TianYili YangBo Xiang https://www.frontiersin.org/articles/10.3389/fgene.2026.1811927 https://www.frontiersin.org/articles/10.3389/fgene.2026.1811927 <![CDATA[MetaComb: a meta-learning framework for drug combination response prediction from cell lines to patients]]> 2026-06-02T00:00:00Z Original Research Congcong GuoTongtong LiXinru DengYajie MaFeng HeLihong DiaoZe WangDong LiZhongyang Liu https://www.frontiersin.org/articles/10.3389/fgene.2026.1839396 https://www.frontiersin.org/articles/10.3389/fgene.2026.1839396 <![CDATA[Accuracy of genomic prediction for milk production traits in Mehsana buffalo]]> 2026-06-02T00:00:00Z Original Research Mayank R. PatelAshish C. PatelRajesh S. JoshiDevanshi V. PatelNilesh NayeeA. SudhakarSubhash J. JakhesaraPrakash G. Koringa https://www.frontiersin.org/articles/10.3389/fgene.2026.1827876 https://www.frontiersin.org/articles/10.3389/fgene.2026.1827876 <![CDATA[Genetic analysis of three familial cases of pure terminal 19p13.3 duplication caused by maternal balanced translocation t(19;21) (p13.3;p12)]]> 2026-06-02T00:00:00Z Original Research Jia-yan ChenMei-jiao CaiXiao-lu ChenYun-sheng Ge https://www.frontiersin.org/articles/10.3389/fgene.2026.1624523 https://www.frontiersin.org/articles/10.3389/fgene.2026.1624523 <![CDATA[Identification of novel JAK3 variants in a suspected SCID patient and two couples undergoing carrier screening]]> 2026-06-01T00:00:00Z Original Research Yao PengYi-Lin SangWu ZhuNing ZhangYi SunGe LinGuang-Xiu LuYue-Qiu TanJuan DuFu-Yan WangWen-Bin He https://www.frontiersin.org/articles/10.3389/fgene.2026.1797093 https://www.frontiersin.org/articles/10.3389/fgene.2026.1797093 <![CDATA[Integrated metabolomic and transcriptomic analysis of anthocyanin accumulation mechanisms in maize kernels of different colors]]> 2026-06-01T00:00:00Z Original Research Chao JiangHanbo ShiLinan YanWenxu YinHui LiHaibo LuHaichao ZhaoSongtao LiuShuo WangDong WeiZhihong Huang