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 2026-07-08T10:28:53.246+00:00 60 https://www.frontiersin.org/articles/10.3389/fgene.2026.1884212 https://www.frontiersin.org/articles/10.3389/fgene.2026.1884212 <![CDATA[Correction: Mesoangioblasts at 20: from the embryonic aorta to the patient bed]]> 2026-07-08T00:00:00Z Correction Giulio CossuRossana TonlorenziSilvia BrunelliMaurilio SampaolesiGraziella MessinaEmanuele AzzoniSara BenedettiStefano BiressiChiara BonfantiLaricia BraggJordi CampsOrnella CappellariMarco CassanoFabio CiceriMarcello ColettaDiego CovarelloStefania CrippaM. Gabriella Cusella-De AngelisLuciana De AngelisArianna DellavalleJordi Diaz-ManeraIrene FancelloDaniela GalliFrancesco GalliCesare GargioliMattia F. M. GerliGiorgia GiacomazziBeatriz G. GalvezHidetoshi HoshiyaMaria GuttingerAnna InnocenziM. Giulia MinasiLaura PeraniStefano C. PrevitaliMattia QuattrocelliMartina RagazziUrmas RoostaluGiuliana RossiSabrina SantoleriRaffaella ScardigliDario SirabellaFrancesco Saverio TedescoYvan TorrenteGonzalo Ugarte https://www.frontiersin.org/articles/10.3389/fgene.2026.1857456 https://www.frontiersin.org/articles/10.3389/fgene.2026.1857456 <![CDATA[Biallelic RSPH4A loss-of-function variants cause primary ciliary dyskinesia in a Chinese patient]]> 2026-07-08T00:00:00Z Original Research Yu-Ting LuHui-Yan TangKai ChenDing-Yuan LaiDe-Cheng WangFan Yang C (p.Met1Thr) inherited from the mother and RSPH4A (NM_001010892.3): c.854delA (p.Lys286Serfs*22) inherited from the father, showing strict co-segregation with the disease phenotype. The c.2T>C variant disrupted the translation initiation codon, while c.854delA introduced a premature termination codon within the radial spoke head domain. Cross-species analysis demonstrated high conservation of the affected region across 15 vertebrate species. Structural modeling predicted complete loss of the radial spoke head domain in the truncated protein. Functional studies revealed that c.2T>C severely impaired protein translation despite intact mRNA levels, whereas c.854delA triggered nonsense-mediated mRNA decay and produced unstable truncated protein. Both variants resulted in substantial reduction in functional RSPH4A protein expression.ConclusionThis study identifies novel loss-of-function RSPH4A variants causing PCD through distinct molecular mechanisms, expanding the mutational spectrum of radial spoke head protein-related ciliopathies. These findings offer compelling proof in favor of a molecular diagnosis of PCD in this family and enable carrier screening for at-risk relatives. The experimental validation strategy establishes a framework for interpreting variants of uncertain significance in PCD genes, facilitating accurate prenatal diagnosis and preimplantation genetic testing to reduce the recurrence risk and birth defect incidence in PCD. Furthermore, understanding the precise functional consequences of RSPH4A variants informs genotype-phenotype correlations and may guide future development of targeted therapeutic interventions for this debilitating respiratory disorder.]]> https://www.frontiersin.org/articles/10.3389/fgene.2026.1893561 https://www.frontiersin.org/articles/10.3389/fgene.2026.1893561 <![CDATA[Correction: Genetic determinants of age-related macular degeneration in Middle Eastern populations: a systematic review]]> 2026-07-08T00:00:00Z Correction Naif S. Sannan https://www.frontiersin.org/articles/10.3389/fgene.2026.1901215 https://www.frontiersin.org/articles/10.3389/fgene.2026.1901215 <![CDATA[Editorial: Hepatocellular carcinoma: from bench to bedside]]> 2026-07-07T00:00:00Z Editorial Evin İşcanAaron B. KoenigXiaogang Wu https://www.frontiersin.org/articles/10.3389/fgene.2026.1870725 https://www.frontiersin.org/articles/10.3389/fgene.2026.1870725 <![CDATA[Modifiable risk factors and skin cancers: a multi-omics Mendelian randomization study from causal inference to drug target discovery]]> 2026-07-07T00:00:00Z Original Research Zhen QinWuda HuoshenXueqing LiShiyu LiChen SunSha Yi https://www.frontiersin.org/articles/10.3389/fgene.2026.1882818 https://www.frontiersin.org/articles/10.3389/fgene.2026.1882818 <![CDATA[Escape and evasion: when immunosurveillance of senescent cells goes wrong]]> 2026-07-07T00:00:00Z Mini Review Elina ShakurAbraham JacobsRituparna GhoshMatthew J. Yousefzadeh https://www.frontiersin.org/articles/10.3389/fgene.2026.1814500 https://www.frontiersin.org/articles/10.3389/fgene.2026.1814500 <![CDATA[Genetic profiling of healthy family members of breast and ovarian cancer patients in Estonia]]> 2026-07-07T00:00:00Z Original Research Mikk ToomingKadri RekkerKadri ToomeLaura RohtPiret LaidreOlga FjodorovaHanno RoomereÜlle MurumetsUstina ŠamarinaSander PajusaluRiina ŽordaniaKristi TaelEve VaidlaElvira KurvinenNeeme TõnissonMihkel IlissonPeeter PadrikJaak LehtsaarRiina KütnerElen VettusHelen VaharKatrin ÕunapTiina Kahre https://www.frontiersin.org/articles/10.3389/fgene.2026.1653878 https://www.frontiersin.org/articles/10.3389/fgene.2026.1653878 <![CDATA[Genome-wide association study of the reproductive, body size, and carcass-related latent and directly measured traits in admixed beef heifers]]> 2026-07-07T00:00:00Z Original Research Muhammad AnasBin ZhaoHaipeng YuCarl R. DahlenKendall C. SwansonKris A. RingwallLauren L. Hulsman Hanna https://www.frontiersin.org/articles/10.3389/fgene.2026.1874675 https://www.frontiersin.org/articles/10.3389/fgene.2026.1874675 <![CDATA[Remodelin treatment reshapes inflammation-related transcriptomic signatures in experimental thalamic hemorrhage]]> 2026-07-07T00:00:00Z Original Research Zi WangYaqun LiYinggang XiaoJu GaoTianfeng Huang https://www.frontiersin.org/articles/10.3389/fgene.2026.1828450 https://www.frontiersin.org/articles/10.3389/fgene.2026.1828450 <![CDATA[Genomic innovations in cancer prevention, diagnosis, prognosis and precision therapeutics]]> 2026-07-06T00:00:00Z Review Hanumappa AnandaSadhu R. SahanaShruthi R. MurthyAmrutha N. KunnathAkila PrashantJussuf T. KaifiPura K. KiranKanve N. Suvilesh https://www.frontiersin.org/articles/10.3389/fgene.2026.1874969 https://www.frontiersin.org/articles/10.3389/fgene.2026.1874969 <![CDATA[Mitochondrial DNA reveals high maternal diversity within a weak breed structure in native Kazakhstani horses]]> 2026-07-06T00:00:00Z Original Research Daniya UaliyevaKairat DossybayevTilek KapassulyAltynay KozhakhmetZhassulan KozhanovKirill KryukovMasanori AritaMerey TorekhanovAibyn Torekhanov https://www.frontiersin.org/articles/10.3389/fgene.2026.1841048 https://www.frontiersin.org/articles/10.3389/fgene.2026.1841048 <![CDATA[Effects of prenatal transportation stress on liver gene expression in male and female Brahman calves]]> 2026-07-06T00:00:00Z Original Research Sierra R. SebestaEmilie C. BakerKubra Z. CilkizRodolfo C. CardosoThomas B. HairgroveCharles R. LongRonald D. RandelThomas H. WelshDavid G. Riley 0.28). Sex influenced birth weight, harvest weight, liver weight (P < 0.05), and treatment influenced liver weight:harvest weight (P < 0.10). Linear regression coefficients of traits on calf age as a linear covariate were not different from 0 (P > 0.41). Controlling false discovery rate at 0.10, there were no differentially expressed genes for PNS relative to Control and 13 differentially expressed genes for male relative to female comparisons. No genes were found to be differentially expressed across all comparisons. It is possible that the few differences between sexes and treatments may be due to relatively small sample sizes or to an unknown adaptation mechanism to the stress prenatally induced by this young age. Heightening the severity of prenatal transportation stress through increased duration or frequency of transportation may result in more differentially expressed genes.]]> https://www.frontiersin.org/articles/10.3389/fgene.2026.1818099 https://www.frontiersin.org/articles/10.3389/fgene.2026.1818099 <![CDATA[Complementary structure of statistical significance and predictive relevance in explainable machine learning–based transcriptomic tissue classification of Hanwoo cattle]]> 2026-07-06T00:00:00Z Original Research Dogyeong LeeJunyoung LeeInchul ChoiDajeong Lim https://www.frontiersin.org/articles/10.3389/fgene.2026.1850219 https://www.frontiersin.org/articles/10.3389/fgene.2026.1850219 <![CDATA[CNNKSCEC: a deep learning-based framework for chromatin loop prediction with multi-source feature integration]]> 2026-07-03T00:00:00Z Original Research Junfeng WangBingzi ZhengLili WuXiaoyan LiuHaixia ZhaiJunwei Luo https://www.frontiersin.org/articles/10.3389/fgene.2026.1795267 https://www.frontiersin.org/articles/10.3389/fgene.2026.1795267 <![CDATA[Identification of potential biomarkers and therapeutic targets for osteoarthritis associated with arginine and proline metabolism based on transcriptome sequencing and bioinformatics]]> 2026-07-03T00:00:00Z Original Research Xiao-Hua ChenJun LiuLing QiuYang ZhanZhuo-Ming ZhengPeng ChenYou-Xin SuJie-Mei GuoSheng-Jian Weng https://www.frontiersin.org/articles/10.3389/fgene.2026.1828693 https://www.frontiersin.org/articles/10.3389/fgene.2026.1828693 <![CDATA[Application of acute myocardial infarction-related key genes in noninvasive diagnosis: a comprehensive analysis based on transcriptome and single-cell transcriptome]]> 2026-07-02T00:00:00Z Original Research Mingbin XieYuanhong WuXinyao JinFengchun JiangQiang Yao https://www.frontiersin.org/articles/10.3389/fgene.2026.1841116 https://www.frontiersin.org/articles/10.3389/fgene.2026.1841116 <![CDATA[Homozygous familial hypercholesterolemia, experience with Evinacumab treatment in two Mexican pediatric patients: case report]]> 2026-07-02T00:00:00Z Case Report Ramón Madriz PradoYazmín Guadalupe Ríos SolísDiana Estefanía Guerrero DávilaLucía Molina FernándezOmar Spencer Aguilar ReyesIlse OrdóñezLeticia RamosMarisol González https://www.frontiersin.org/articles/10.3389/fgene.2026.1865257 https://www.frontiersin.org/articles/10.3389/fgene.2026.1865257 <![CDATA[Disease-predominant loci across Alzheimer’s disease, Parkinson’s disease and Lewy body dementia: evidence from the UK Biobank prospective cohort, conditional GWAS and colocalization]]> 2026-07-02T00:00:00Z Original Research Ying ZhangZhishuai ZhangShizheng QiuYang Hu https://www.frontiersin.org/articles/10.3389/fgene.2026.1874960 https://www.frontiersin.org/articles/10.3389/fgene.2026.1874960 <![CDATA[S100A9 as a shared biomarker and mediator of metabolic dysfunction in peripheral artery disease and sarcopenia]]> 2026-07-02T00:00:00Z Original Research Yaming GuoWenxin ZhaoHai FengYongjun Li https://www.frontiersin.org/articles/10.3389/fgene.2026.1827858 https://www.frontiersin.org/articles/10.3389/fgene.2026.1827858 <![CDATA[Integrative serum metabolite prioritization and functional screening identify N-acetyl-L-glutamine as a protective candidate in premature ovarian insufficiency]]> 2026-07-02T00:00:00Z Original Research Xinyue ZhangChen ChenXiaolan Zhu