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        <title>Frontiers in Genetics | New and Recent Articles</title>
        <link>https://www.frontiersin.org/journals/genetics</link>
        <description>RSS Feed for Frontiers in Genetics | New and Recent Articles</description>
        <language>en-us</language>
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        <pubDate>2026-07-29T03:04:19.366+00:00</pubDate>
        <ttl>60</ttl>
        <item>
        <guid isPermaLink="true">https://www.frontiersin.org/articles/10.3389/fgene.2026.1922890</guid>
        <link>https://www.frontiersin.org/articles/10.3389/fgene.2026.1922890</link>
        <title><![CDATA[Editorial: Methods for imaging and omics data science: advances, applications, and spatiotemporal innovations]]></title>
        <pubdate>2026-07-29T00:00:00Z</pubdate>
        <category>Editorial</category>
        <author>Himel Mallick</author><author>Lingling An</author><author>Shrabanti Chowdhury</author><author>Anchal Ghai</author><author>Suvo Chatterjee</author><author>Siyuan Ma</author><author>Ali Rahnavard</author><author>Pinaki Sarder</author>
        <description></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontiersin.org/articles/10.3389/fgene.2026.1871025</guid>
        <link>https://www.frontiersin.org/articles/10.3389/fgene.2026.1871025</link>
        <title><![CDATA[Therapeutic resistance in HPV-positive oropharyngeal squamous cell carcinoma: molecular mechanisms, clinical challenges, and precision strategies]]></title>
        <pubdate>2026-07-29T00:00:00Z</pubdate>
        <category>Review</category>
        <author>Yiming Meng</author><author>Jing Sun</author><author>Yushu Ma</author><author>Cuicui Kong</author>
        <description><![CDATA[Human papillomavirus (HPV)-positive oropharyngeal squamous cell carcinoma (OPSCC) exhibits exceptional sensitivity to chemoradiotherapy, with 5-year overall survival exceeding 80%, thereby providing a compelling rationale for treatment de-escalation. However, 15%–20% of patients develop therapeutic resistance and locoregional recurrence, resulting in markedly inferior outcomes. This Review systematically dissects the molecular architecture of treatment resistance in HPV-positive OPSCC, with particular emphasis on mechanisms conferring resistance to radiotherapy, platinum-based chemotherapy, and EGFR-targeted therapy (cetuximab). We delineate core drivers — aberrant DNA damage response (DDR) signaling, epigenetic reprogramming, cancer stem cell (CSC) plasticity, and non-coding RNA networks—and pinpoint actionable vulnerabilities. The contributions and limitations of patient-derived organoids, genetically engineered mouse models, and pivotal clinical trials (notably RTOG 1016) are critically appraised. We address persistent controversies, including the complex relationship between de-escalation and resistance, and highlight the lack of integrative resistance biomarkers. Finally, we propose a roadmap to bridge translational gaps and accelerate the development of precision strategies that circumvent resistance.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontiersin.org/articles/10.3389/fgene.2026.1856601</guid>
        <link>https://www.frontiersin.org/articles/10.3389/fgene.2026.1856601</link>
        <title><![CDATA[Comparative analysis of m6A mRNA modification in de novo and established genes during yeast sporulation]]></title>
        <pubdate>2026-07-29T00:00:00Z</pubdate>
        <category>Original Research</category>
        <author>Azka Saleem</author><author>Yingshan Jiang</author><author>Jian Xue</author><author>Yuxuan Cui</author><author>Chuli Zhou</author><author>Fu Liu</author><author>Yuan Liu</author><author>Yubin Yan</author><author>Ruolin Yang</author>
        <description><![CDATA[De novo genes, a subset of young and lineage-restricted genes arising from ancestrally non-genic sequences, serve as a reservoir for evolutionary innovation. Despite their potential significance, the regulatory mechanisms governing de novo genes remain largely unexplored, particularly regarding post-transcriptional modifications. While N6-methyladenosine (m6A) mRNA modification has been extensively studied in epitranscriptomics, its role and dynamics in de novo genes compared to established protein-coding genes have not been investigated. This study investigates the m6A epitranscriptome in Saccharomyces cerevisiae, examining modification landscapes, peak quantification, position, consensus motif, and temporal dynamics in a curated collection of de novo genes using high-resolution m6A-seq2 data. We analyzed the relationships between m6A modifications and gene characteristics including transcript length, expression levels, and evolutionary age during sporulation. To establish connections between differential gene expression and m6A modification patterns, we performed conjoint analyses of differential m6A modification and RNA expression profiles to elucidate the regulatory role of m6A in gene expression control. Functional annotation of key genes was conducted to provide biological context for our findings. Our results reveal that de novo genes exhibit a lower apparent per gene m6A burden than established protein coding genes, characterized by fewer modification peaks per transcript, lower peak intensities, and reduced m6A motif density. However, this difference is primarily explained by the shorter transcript lengths and lower GAC motif densities characteristic of DNGs, rather than by evolutionary age itself. Consistent with this interpretation, evolutionary age was not a significant independent predictor of m6A modification after controlling for transcript length and other variables in multivariable analysis. Notably, DNGs display parallel temporal modification patterns across sporulation stages, indicating that they are subject to the same stage-specific m6A dynamics as established genes.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontiersin.org/articles/10.3389/fgene.2026.1875066</guid>
        <link>https://www.frontiersin.org/articles/10.3389/fgene.2026.1875066</link>
        <title><![CDATA[Artificial intelligence in peptide cancer vaccine design: from neoantigen discovery to immunogenicity prediction]]></title>
        <pubdate>2026-07-29T00:00:00Z</pubdate>
        <category>Mini Review</category>
        <author>Petar Brlek</author><author>Jan Kolić</author><author>Luka Bulić</author><author>Vedrana Škaro</author><author>Dragan Primorac</author>
        <description><![CDATA[Peptide-based cancer vaccines represent a promising immunotherapeutic strategy aimed at inducing tumor-specific immune responses through the targeting of tumor-associated antigens and neoantigens. Recent advances in next-generation sequencing and immunogenomics have accelerated the identification of candidate neoantigens; however, the development of effective peptide vaccines remains limited by challenges related to antigen selection, HLA polymorphism, antigen processing, and variability in immunogenicity. Artificial intelligence (AI), including machine learning and deep learning approaches, has emerged as a transformative tool capable of addressing these limitations through large-scale integration and analysis of genomic, transcriptomic, proteomic, and immunological data. In this review, we summarize the current role of AI across the peptide cancer vaccine development pipeline, from neoantigen discovery and epitope prioritization to prediction of peptide–HLA binding, antigen presentation, and T-cell receptor recognition. We discuss the application of modern computational frameworks, including pan-allelic prediction models, transformer-based architectures, immunopeptidomics-informed learning, and multi-modal AI systems integrating tumor and immune microenvironment data. Furthermore, we examine the clinical translation of personalized neoantigen vaccines, including their combination with immune checkpoint inhibitors and their emerging role in aggressive malignancies such as glioblastoma. Despite substantial progress, significant challenges remain, including high false-positive prediction rates, limited diversity of training datasets, biological complexity of immunogenicity, and regulatory and manufacturing barriers associated with individualized therapies. Continued integration of AI-driven prediction tools with experimental validation and translational immunology will be essential for the development of clinically effective and scalable precision cancer vaccines.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontiersin.org/articles/10.3389/fgene.2026.1850909</guid>
        <link>https://www.frontiersin.org/articles/10.3389/fgene.2026.1850909</link>
        <title><![CDATA[Five-year outcomes of next-generation sequencing implementation at a Brazilian public health system reference centre for rare diseases]]></title>
        <pubdate>2026-07-29T00:00:00Z</pubdate>
        <category>Original Research</category>
        <author>Natana Chaves Rabelo</author><author>Maria Eduarda Gomes</author><author>Isabelle Correa de Moraes</author><author>Bianca Barbosa Abdala</author><author>Daltro C. Junior</author><author>Anneliese Barth</author><author>Patrícia Correia</author><author>Daniela Koeller Rodrigues Vieira</author><author>Fernanda Rolemberg</author><author>Naiara Gomes</author><author>Tatiana S. P. C. Magalhães</author><author>Dafne Dain Gandelman Horovitz</author><author>Juan C. Llerena</author><author>Sayonara Gonzalez</author>
        <description><![CDATA[IntroductionRare diseases affect approximately 6%–7% of the Brazilian population, representing a significant public health challenge due to diagnostic delays and inequitable access to genomic services. This study evaluates a 5-year implementation of next-generation sequencing (NGS) at a Reference Service for Rare Diseases (RDRS) within the Brazilian Unified Health System (SUS), examining diagnostic performance and barriers to equitable access to genomic medicine.MethodsA cohort of 385 patients with suspected genetic disorders underwent clinical or whole-exome sequencing (CES/WES) between 2019 and 2024. Exome analyses were guided by standardized Human Phenotype Ontology (HPO)–based phenotypic characterization, resulting in an overall diagnostic yield of 38.7% (149/385 cases).ResultsA total of 249 variants were identified across 165 genes, including 75 variants not previously reported in medical literature or public databases. Actionable secondary findings were detected in 3.2% of cases, involving pathogenic variants in genes related to cardiac disease, cancer predisposition, and anesthesia risk, underscoring the preventive potential of genomic testing.DiscussionThe implementation of NGS in the Brazilian public health system is feasible and highly impactful, yielding a 38.7% diagnostic rate that significantly reduces the diagnostic odyssey for rare disease patients. Success was heavily dependent on a multidisciplinary approach, standardized HPO-based phenotypic characterization, and close clinical-laboratory integration. The identification of 75 novel variants highlights the genetic complexity of Brazil’s admixed population and the challenges of interpreting variants of uncertain significance (VUS) in underrepresented groups. Furthermore, the detection of actionable secondary findings demonstrates the broader preventive potential of genomic testing, underscoring the need for expanded local databases, genomic literacy among clinicians, and robust ethical frameworks for patient management.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontiersin.org/articles/10.3389/fgene.2026.1885207</guid>
        <link>https://www.frontiersin.org/articles/10.3389/fgene.2026.1885207</link>
        <title><![CDATA[Digital death and posthumous data: a glocal, relational perspective]]></title>
        <pubdate>2026-07-29T00:00:00Z</pubdate>
        <category>Perspective</category>
        <author>Adela Toplean</author>
        <description><![CDATA[Persistent digital presence now routinely outlives biological death through memorialized profiles, algorithmic “memories,” AI-mediated avatars, or biobank reanalysis. This perspective argues that decisions about such posthumous data—including postmortem genomic data—should be grounded in a glocally situated, relational view of personhood and practice, rather than in one-size-fits-all, individual-only rules. A small shared vocabulary is first proposed for use across disciplines: digital afterlife, digital immortality, posthumous lifespan, digital remains, and digital death. Digital death is treated phenomenologically as a lived, relational process: a hybrid online–offline experience in which dying, mourning, remembrance, and legacy unfold across digital and non-digital contexts. Second, it is argued that selves persist through relations, roles, and traces and that digital and genomic data amplify this relationality. Posthumous decisions, therefore, affect kin and communities and call for relational, kin-sensitive consent rather than static, individual authorizations. Third, a glocal lens is advanced: digital and data infrastructures always meet local death systems—institutions, rites, beliefs, and moral orders—that refract global capabilities into self-limiting “boundary solutions.” To make this usable for genetics and allied fields, a brief action triage is outlined—focusing on stakes, relational radius, local death system, and time frame—and illustrate with a posthumous variant re-analysis/return-of-results scenario to help choose the least intrusive viable pathway. While approximate, such staged, glocally attuned practice can reduce foreseeable harm and support ethically coherent, clinically workable, and culturally credible uses of posthumous data.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontiersin.org/articles/10.3389/fgene.2026.1865152</guid>
        <link>https://www.frontiersin.org/articles/10.3389/fgene.2026.1865152</link>
        <title><![CDATA[Case Report: A rare AGXT pathogenic variant associated with young-adult-onset end-stage kidney disease]]></title>
        <pubdate>2026-07-29T00:00:00Z</pubdate>
        <category>Case Report</category>
        <author>Hui Jiang</author><author>Fuzhen Wang</author><author>Senqing Lin</author><author>Senchao Wu</author><author>Xiuping Qiu</author><author>Jinxiu Deng</author>
        <description><![CDATA[Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive metabolic disorder caused by pathogenic variants in AGXT, leading to hepatic oxalate overproduction, recurrent nephrolithiasis, nephrocalcinosis, progressive kidney dysfunction, and, in advanced stages, systemic oxalosis. Here, we report a family in which two brothers developed recurrent nephrolithiasis and progressed to end-stage kidney disease (ESKD) in young adulthood. The proband, a 32-year-old man, presented with bilateral kidney stones, rapidly progressive renal failure, and extensive extra-renal tissue oxalate deposition on follow-up imaging. Genetic testing identified a homozygous AGXT variant, c.740T>G, p.(Leu247Arg), in both affected siblings, while the proband’s mother and daughter were heterozygous carriers, consistent with autosomal recessive inheritance. Plasma oxalate levels were markedly higher in the proband than in his brother and in non-PH ESKD controls. During follow-up, the proband received maintenance hemodialysis alone, whereas his older brother underwent combined hemodialysis, hemofiltration, and hemoperfusion, and appeared to achieve better plasma oxalate control. These findings suggest that intensified blood purification may serve as a potential bridging strategy in advanced PH1 while definitive treatment is being arranged. This report expands the genotypic and phenotypic spectrum of PH1 and underscores the importance of early genetic evaluation in patients with recurrent or early-onset nephrolithiasis, especially when accompanied by rapid renal decline or a positive family history.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontiersin.org/articles/10.3389/fgene.2026.1832187</guid>
        <link>https://www.frontiersin.org/articles/10.3389/fgene.2026.1832187</link>
        <title><![CDATA[Roles of microRNA in aging and dietary restriction-induced longevity]]></title>
        <pubdate>2026-07-28T00:00:00Z</pubdate>
        <category>Review</category>
        <author>Jialin Fan</author><author>Guimei Zhang</author><author>Shuo Sun</author><author>Xiaowen Zhang</author><author>Yaping Li</author><author>Meng Liu</author><author>Peilin Xu</author><author>Mark Youssef</author><author>Zara Khanzada</author><author>Yifei Zhou</author><author>Yunpeng Xu</author>
        <description><![CDATA[Aging is a multifactorial biological process driven by the progressive decline of cellular and tissue homeostasis. Increasing evidence has identified microRNAs (miRNAs) as key epigenetic regulators that fine-tune gene expression networks involved in aging and lifespan determination. Across model organisms—including Caenorhabditis elegans, Drosophila melanogaster, and mammals—numerous miRNAs exhibit age-dependent expression patterns and modulate longevity by targeting conserved signaling pathways such as insulin/IGF-1 signaling, mTOR, autophagy, mitochondrial homeostasis, and inflammatory responses. These small non-coding RNAs function as network regulators that coordinate multiple biological processes underlying organismal aging. In addition to regulating intrinsic aging pathways, miRNAs have emerged as important mediators of environmental longevity interventions. Moreover, dietary restriction (DR), one of the most robust and evolutionarily conserved lifespan-extending interventions, reshapes miRNA expression programs that control metabolic adaptation, stress resistance, and nutrient-sensing pathways. Furthermore, accumulating evidence indicates that circulating miRNAs detected in body fluids—including blood, serum, and urine—may serve as minimally invasive biomarkers for biological aging and age-related diseases. In this review, we summarize current insights into the roles of miRNAs in lifespan regulation across model organisms, discuss their involvement in DR-mediated longevity, and highlight their emerging applications as diagnostic biomarkers and potential therapeutic targets. Finally, we discuss future directions emphasizing integrative multi-miRNA regulatory networks and miRNA-based aging clocks, which may provide new opportunities for understanding aging mechanisms and developing strategies to promote healthy longevity.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontiersin.org/articles/10.3389/fgene.2026.1892974</guid>
        <link>https://www.frontiersin.org/articles/10.3389/fgene.2026.1892974</link>
        <title><![CDATA[Case Report: First case of paternal mosaicism in Snijders Blok–Fisher syndrome]]></title>
        <pubdate>2026-07-28T00:00:00Z</pubdate>
        <category>Case Report</category>
        <author>Alex Barragán-Muñoz</author><author>Paula Trilla</author><author>Aurora Sanchez</author><author>Miriam Potrony</author><author>Irene Madrigal</author><author>Laia Rodriguez-Revenga</author><author>Maria Isabel Alvarez-Mora</author>
        <description><![CDATA[Snijders Blok–Fisher syndrome (SNIBFIS; OMIM #618604) is a rare autosomal dominant neurodevelopmental disorder caused mainly by de novo variants in POU3F3 gene. Here, we report for the first time, two affected siblings harboring a truncating POU3F3 variant inherited from their apparently unaffected father. Sanger sequencing across multiple tissues (blood, saliva, urine, and hair root samples) in the father together with RNA testing confirmed gonosomal mosaicism. Clinical re-evaluation of the father evidenced a previously unrecognized cognitive impairment. Conventional methods often fail to detect mosaic variants, highlighting the necessity to integrate integration of high-depth sequencing for precise risk evaluation. This work redefines the genetic architecture of SNIBFIS, emphasizing that comprehensive parental testing are indispensable for precise genetic counseling and family planning. The identification of mosaicism highlights the importance of increased clinical awareness, especially in families with more than one affected individual, and supports the use of comprehensive, high-resolution genetic testing strategies for accurate variant detection and characterization.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontiersin.org/articles/10.3389/fgene.2026.1804348</guid>
        <link>https://www.frontiersin.org/articles/10.3389/fgene.2026.1804348</link>
        <title><![CDATA[Knowledge and attitude of Malaysian university students towards regenerative medicine therapy and their clinical implications: a cross-sectional study]]></title>
        <pubdate>2026-07-28T00:00:00Z</pubdate>
        <category>Original Research</category>
        <author>Narmadaa Raman</author><author>Fazlina Nordin</author><author>Siti A. M. Imran</author><author>Budi Aslinie Md Sabri</author><author>Deny Susanti</author><author>Khairul Bariah Ahmad Amin Noordin</author><author>Sharifah Zamiah Syed Abdul Kadir</author><author>Rajesh Ramasamy</author>
        <description><![CDATA[Regenerative medicine therapy (RMT) is an emerging field in Malaysia with significant potential for tissue regeneration and disease treatment. Yet awareness of its importance and the benefits of stem cell therapy remains limited, owing to a lack of in-depth knowledge of RMT among Malaysians. This study aims to evaluate the knowledge and attitudes of students at public and private universities in Malaysia regarding regenerative medicine therapy and its clinical implications. A cross-sectional study was conducted among 480 medical and non-medical students from Malaysian public and private universities. Six content experts validated the questionnaire, and the appropriateness of each question was rated using an item content validity index (I-CVI). The survey was divided into distinct sections covering demographics, previous experience with RMT, knowledge of RMT development and therapeutic applications (scored binary as 0 or 1), and attitudes towards RMT research, ethics, and religious views (measured on a 5-point Likert scale). The knowledge section categorised levels as poor (0–4), moderate (5–8), or high (9–12). Findings revealed that fundamental knowledge of RMT is inadequate among university students, with low overall mean knowledge scores of 0.56 ± 0.23 and 0.47 ± 0.22. Since most students recognised basic concepts, 80.6% failed to correctly identify specific stem cell types, such as chondrocytes, or the source of embryonic stem cells. Medical students demonstrated significantly greater knowledge and understanding of RMT than non-medical students (p < 0.05), particularly in identifying RMT as a treatment for cancer and tissue replacement. These results underscore an urgent need for curriculum reform to prevent future professional negligence and ensure robust healthcare risk management. Students showed a generally positive attitude towards stem cells and their therapeutic applications, with mean scores of 3.75 ± 0.53 and 3.65 ± 0.56, respectively, showing no significant difference between females and males (p > 0.05). In conclusion, Malaysian university students have a moderate to positive attitude towards stem cells and their therapeutic applications in regenerative medicine; however, their knowledge is inadequate, suggesting the need to implement a regenerative medicine syllabus in the current curriculum to educate them on required knowledge of stem cells and prepare future healthcare professionals and graduates.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontiersin.org/articles/10.3389/fgene.2026.1932330</guid>
        <link>https://www.frontiersin.org/articles/10.3389/fgene.2026.1932330</link>
        <title><![CDATA[Editorial: Advances in livestock genetics: enhancing breeding practices and improving animal health]]></title>
        <pubdate>2026-07-27T00:00:00Z</pubdate>
        <category>Editorial</category>
        <author>C. S. Wilson</author><author>A. S. M. Cesar</author><author>F. M. Rezende</author>
        <description></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontiersin.org/articles/10.3389/fgene.2026.1864752</guid>
        <link>https://www.frontiersin.org/articles/10.3389/fgene.2026.1864752</link>
        <title><![CDATA[Paleogenomic evidence for genetic heterogeneity and prior admixture in Gothic-associated communities of late antique Bulgaria]]></title>
        <pubdate>2026-07-24T00:00:00Z</pubdate>
        <category>Original Research</category>
        <author>Svetoslav Stamov</author><author>Todor Chobanov</author><author>Tianyi Wang</author><author>Kremena Stoeva</author><author>Dimcho Momchilov</author><author>Andrey Aladzhov</author><author>Kaloyan Chobanov</author><author>Miroslav Klasnakov</author><author>Georgi Stamov</author><author>Milen Nikolov</author><author>Desislava Nesheva</author><author>Peter Heather</author><author>Draga I. Toncheva</author><author>Milen Zamfirov</author><author>Iosif Lazaridis</author><author>David Reich</author>
        <description><![CDATA[We report genome-wide ancient DNA from 37 individuals retained after conservative archaeological and genomic reassessment of 53 screened samples from two Gothic-period mortuary contexts in present-day Bulgaria: the Aquae Calidae necropolis in Thrace (n = 20; c. 320 CE–375 CE) and the Aul of Khan Omurtag (AKO) in Moesia Secunda (n = 17; c. 350 CE–489 CE). The filtering process excluded individuals with uncertain or probably later-medieval horizon assignment, including a C5-area component linked by READv2 kinship to suspected later-horizon burials. We evaluate three non-exclusive models for Balkan Gothic formation, namely, migration-continuity from northern and Pontic Gothic horizons, a Wenskus–Wolfram–Pohl tradition-bearing cultural–political formation model across changing demographic substrates, and the Roman frontier formation. The two assemblages share Gothic-associated material culture and Christian east–west burial orientation, but they are not a single genome-wide population. Proximal qpAdm models distinguish a southern Anatolian/Marmara-related and northern/Pontic structure at Aquae Calidae from a simpler Chernyakhov-related and Balkan Late Antique structure at AKO. f4 statistics further show that the Anatolian-related component at Aquae Calidae cannot be explained solely as a Chernyakhov-carried signal. DATES places north–south admixture at approximately 12.44 ± 2.36 generations before burial (Z = 5.26), consistent with a pre-burial ancestry mixture rather than a single intact Gothic migration. Kinship is confined within sites. Together, the data reject a single biological Gothic population moving unchanged into the Balkans and instead support a formation process combining migration, multiethnic coalition, and frontier incorporation.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontiersin.org/articles/10.3389/fgene.2026.1822823</guid>
        <link>https://www.frontiersin.org/articles/10.3389/fgene.2026.1822823</link>
        <title><![CDATA[The association between the MCM6 LCT-13910C>T variant and bone mineral density in patients with inflammatory bowel disease]]></title>
        <pubdate>2026-07-24T00:00:00Z</pubdate>
        <category>Original Research</category>
        <author>Agata Picher</author><author>Alicja Ewa Ratajczak-Pawłowska</author><author>Marzena Skrzypczak-Zielińska</author><author>Agnieszka Dobrowolska</author><author>Iwona Krela-Kaźmierczak</author>
        <description><![CDATA[BackgroundInflammatory bowel diseases (IBD), including Crohn’s disease (CD) and ulcerative colitis (UC), are associated with increased risk of osteoporosis. Beyond established environmental factors, genetic determinants and the impact of lactose intolerance on calcium–phosphate balance and bone mineralization are increasingly considered. The aim of this study was to evaluate the association between the LCT-13910C>T (rs4988235) polymorphism in the MCM6 gene and bone mineral density (BMD) in IBD.MethodsA total of 125 patients (50 with UC, 75 with CD) and 39 healthy controls were enrolled. Genotyping was performed by high-resolution melting (HRM) analysis with Sanger sequencing confirmation for selected samples. BMD was measured at L1–L4 and at the femoral neck; selected biochemical parameters were also assessed.ResultsPatients with IBD exhibited lower BMD compared with controls. Analysis of rs4988235 distribution revealed no statistically significant differences between patients and controls, although a higher frequency of the C allele and CC genotype was observed among patients. Genotype–phenotype analyses showed no significant associations for most parameters; the sole exception was the femoral neck in the CD subgroup, where CT heterozygotes had higher BMD than CC homozygotes.ConclusionThe LCT-13910C>T polymorphism does not appear to be independently associated with BMD in patients with IBD in this cohort. Given the moderate sample size and lack of adjustment for key confounders, the findings should be considered exploratory and require confirmation in larger, well-controlled studies.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontiersin.org/articles/10.3389/fgene.2026.1871376</guid>
        <link>https://www.frontiersin.org/articles/10.3389/fgene.2026.1871376</link>
        <title><![CDATA[A novel multivariate framework for functional gene networks enrichment analysis]]></title>
        <pubdate>2026-07-24T00:00:00Z</pubdate>
        <category>Original Research</category>
        <author>Heewon Park</author><author>Seiya Imoto</author>
        <description><![CDATA[Gene network analysis is critically implicated in disease research for uncovering functional modules and interaction-driven pathways underlying biological and disease processes. However, the interpretation of large inferred networks remains challenging. Although functional gene network analysis allows the interpretation of large inferred networks, challenges such as reduction of multiple network-level features to a single composite score often limit their application. This data reduction can mask the important multivariate characteristics of gene networks, hindering efficient differentiation of individual contributions of distinct network components. Hence, this study aimed to investigate a novel computational strategy called Multivariate Framework for Functional Gene Network Enrichment Analysis (mFGNA). This framework incorporated diverse network-level features from a graph-theoretical perspective, including node properties (centrality), edge connectivity patterns (Jaccard distance), interaction strengths (edge weights), alongside traditional expression levels. Notably, mFGNA preserved these multidimensional characteristics, capturing complex rewiring of gene networks across different phenotypic states. Furthermore, mFGNA adopted a gene-level permutation strategy to evaluate the enrichment hypothesis, ensuring effective statistical inference and reduced computational complexity compared with phenotype-based permutations. Extensive Monte Carlo simulations validated mFGNA through both undirected and directed gene networks, showing consistently improved performance over existing approaches across diverse pathway settings. We also applied mFGNA to investigate immune pathway perturbations in cancer cell lines and identified significant network-level dysregulation in pancreatic and non-small cell lung cancers. Cancer-specific interaction modules were dominated by human leukocyte antigen class II genes. Meanwhile, normal cell networks were characterized by hub genes such as MMP1 and MMP3 that were implicated in tissue maintenance, highlighting immune remodeling in tumors and the potential molecular targets for developing diagnostic and therapeutic interventions. Overall, the study shows that mFGNA enables effective functional pathway discovery in complex gene networks, providing mechanistic insights and potential translational targets in disease contexts.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontiersin.org/articles/10.3389/fgene.2026.1870791</guid>
        <link>https://www.frontiersin.org/articles/10.3389/fgene.2026.1870791</link>
        <title><![CDATA[The genetic architecture of human skin pigmentation: evolution and adaptation across global populations]]></title>
        <pubdate>2026-07-24T00:00:00Z</pubdate>
        <category>Review</category>
        <author>Arkopala Bose</author><author>Mainak Sengupta</author><author>Sumit Maitra</author><author>Arup Ratan Bandyopadhyay</author><author>Helmut Schaschl</author>
        <description><![CDATA[Human skin pigmentation is a dynamic and highly adaptive trait influenced by genetic, environmental, and cultural factors. It is driven by variation in ultraviolet radiation, governed by a complex polygenic structure, and further modulated through gene-culture interactions. This review synthesizes advances from evolutionary biology, anthropology, molecular genetics, and gene-culture coevolution to provide an integrated framework for understanding global diversity of pigmentation. We take a distinct approach by focusing on the major evolutionary hypotheses and the polygenic architecture underlying pigmentation. We emphasize both large-effect loci, including SLC24A5, SLC45A2, and MC1R, as well as population-specific adaptive variants identified through recent genomic and functional studies. Using evidence from diverse global populations, we examine how natural selection, demographic processes, and convergent evolution have jointly structured present-day variation in human skin pigmentation. We further emphasize how cultural practices, including clothing, diet, and mobility, have generated gene-culture feedback that modulates selective pressures over evolutionary timescales, underscoring the need for integrative, multi-ethnic research approaches that trace the temporal variation of skin pigmentation and advance its broader biomedical and anthropological implications.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontiersin.org/articles/10.3389/fgene.2026.1896399</guid>
        <link>https://www.frontiersin.org/articles/10.3389/fgene.2026.1896399</link>
        <title><![CDATA[Mechanical stress, metabolic reprogramming and stromal remodeling: an emerging paradigm in the bladder cancer mechano-micro-environment]]></title>
        <pubdate>2026-07-23T00:00:00Z</pubdate>
        <category>Mini Review</category>
        <author>Xiaofei Dong</author><author>Zixuan Chen</author><author>Yi Chen</author><author>Zheng Xiao</author><author>Jingjing Zhang</author><author>Yingcun Li</author><author>Haifang Du</author>
        <description><![CDATA[Recently managing bladder cancer (BLCA) has been hampered by two stubborn challenges, one is high recurrence rate in non-muscle-invasive tumors (NMIBC), the other is muscle-invasive disease (MIBC) showed limited responsiveness to immune checkpoint inhibitors (ICIs). Tumor micro-environment (TME) is characterized exclusively, while the physical and mechanical forces that actively remodel tumors have been largely overlooked. The bladder, a mechanically dynamic organ that undergoes continuous cycles of filling and voiding, provides an exceptionally instructive model for dissecting tumor biology driven by mechanical stress. In this review, we systematically delineates how mechanical stresses in BLCA, including extracellular matrix (ECM) stiffening, solid stress, fluid shear stress, and cyclic stretch-drive metabolic reprogramming, resulting in enhanced glycolysis, glutamine metabolic remodeling, and lactate accumulation. These metabolic alterations subsequently promote fibroblast activation, collagen deposition, and lysyl oxidase (LOX)-mediated matrix crosslinking via epigenetic mechanisms such as histone lactylation. Building upon these mechanisms, we propose a therapeutic rationale that jointly targets mechanotransduction, aberrant metabolism, and the immunosuppressive micro-environment, and we further discuss the distinctive translational advantages of intravesical instillation for locoregional combinatorial delivery. This review aims to provide a novel conceptual framework for overcoming intravesical chemoresistance and ICI resistance in BLCA.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontiersin.org/articles/10.3389/fgene.2026.1876411</guid>
        <link>https://www.frontiersin.org/articles/10.3389/fgene.2026.1876411</link>
        <title><![CDATA[Carrier frequency of autosomal recessive monogenic disorders in the peruvian population]]></title>
        <pubdate>2026-07-23T00:00:00Z</pubdate>
        <category>Original Research</category>
        <author>Hugo Hernán Abarca Barriga</author><author>Flor Del Milagro Vásquez-Sotomayor</author><author>Renzo Punil Luciano</author>
        <description><![CDATA[ObjectiveAutosomal recessive diseases represent an important group of genetic disorders whose frequency may be reduced through population screening strategies or premarital diagnosis, particularly in low- and middle-income countries, where some of these conditions have personalized treatment options that are often not covered by healthcare systems. The aim of this study was to determine the frequency of carriers of autosomal recessive monogenic disorders among patients who underwent exome sequencing at a national pediatric referral hospital in Peru.Materials and MethodsAn observational study was conducted in which carrier frequency was calculated based on pathogenic or likely pathogenic variants identified through exome sequencing. Additionally, assumptions from the Hardy-Weinberg equilibrium were applied to estimate the expected frequency of affected individuals in the population. Exploratory analyses were performed to estimate the odds ratio to evaluate the possible association between the geographic origin of patients or their grandparents and the presence of recessive variants.ResultsThe sample included 178 patients who underwent exome sequencing. In the analyzed cohort, approximately one pathogenic or likely pathogenic heterozygous variant per individual was identified, and at least 63.5% of participants were carriers of at least one genetic condition.ConclusionCarrier frequencies for genes such as GJB2, PAH, and ABCA4 were slightly lower than those previously reported. Similarly, the estimated prevalence of potentially affected individuals showed variations compared with previous studies across different disease groups. These differences may be explained by demographic and evolutionary factors that influence population genetic structure.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontiersin.org/articles/10.3389/fgene.2026.1886099</guid>
        <link>https://www.frontiersin.org/articles/10.3389/fgene.2026.1886099</link>
        <title><![CDATA[Construction and optimization of a genomic selection model for total sugar content in tobacco]]></title>
        <pubdate>2026-07-23T00:00:00Z</pubdate>
        <category>Original Research</category>
        <author>Yue Yang</author><author>Qiang Xu</author><author>Jincun Fu</author><author>Linjie Guo</author><author>Zexiang Huang</author><author>Huan Si</author><author>Hao Wang</author><author>Guanwang Shen</author><author>Yanjun Zan</author><author>Zongyu Hu</author>
        <description><![CDATA[Total sugar is one of the chemical indicators related to tobacco quality. However, due to its composition of various oligosaccharides, disaccharides, and polysaccharides, total sugar lacks a clear genetic target, making conventional breeding approaches for its improvement particularly challenging. Therefore, conducting genomic selection (GS) studies on total sugar content holds significant importance for the development of high-sugar tobacco varieties. In this study, 2,604 tobacco germplasm accessions with broad genetic diversity, sourced from the National tobacco Germplasm Repository, were used as experimental materials. High-throughput sequencing technologies were employed to perform comprehensive genetic evaluation and construct genomic selection models for total sugar content. Sixteen mainstream genomic prediction models were assessed through five-fold cross-validation to develop a high-accuracy prediction framework. Among these models, the Gradient Boosting Machine (GBM) achieved the highest prediction accuracy for total sugar content (0.85), followed by the rrBLUP model (0.81). Comparative analysis of computational speed and resource consumption revealed that GBM maintained rapid computation and low resource usage even in large sample sizes, demonstrating strong stability and superior performance. Considering all factors, GBM was preliminarily identified as the optimal model for predicting total sugar content in tobacco. The application of high-accuracy genomic prediction is expected to overcome the challenges of phenotypic evaluation in breeding programs and significantly enhance the efficiency of selecting high-sugar tobacco varieties.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontiersin.org/articles/10.3389/fgene.2026.1876732</guid>
        <link>https://www.frontiersin.org/articles/10.3389/fgene.2026.1876732</link>
        <title><![CDATA[Langer mesomelic dysplasia as a rare manifestation of SHOX deficiency: a narrative review]]></title>
        <pubdate>2026-07-22T00:00:00Z</pubdate>
        <category>Review</category>
        <author>Hubert Piwar</author><author>Jan Pawlasek</author><author>Patryk Sielaff</author><author>Maria Sztachelska</author><author>Michal Ordak</author>
        <description><![CDATA[Langer mesomelic dysplasia is an exceptionally rare skeletal dysplasia caused by complete or functionally complete deficiency of the SHOX (short stature homeobox) gene located within the pseudoautosomal region 1 (PAR1) of the sex chromosomes. Clinically, the disorder is characterized by severe disproportionate short stature and marked mesomelic shortening of the limbs, particularly involving hypoplasia or aplasia of the ulna and fibula, while cognitive development and life expectancy are generally preserved. This narrative review summarizes current knowledge regarding the molecular genetics, developmental biology, clinical manifestations, radiographic findings, prenatal diagnosis, and differential diagnosis of Langer mesomelic dysplasia. The SHOX protein functions as a homeodomain-containing transcription factor essential for chondrocyte proliferation, differentiation, and growth plate organization. Pathogenic mechanisms include biallelic SHOX deletions, enhancer-region defects, missense variants affecting the homeodomain and nuclear localization signal, as well as splice-site variants leading to severe reduction of functional protein dosage. The article also discusses the broad phenotypic spectrum of SHOX deficiency, genotype-phenotype variability, and the relationship between Langer mesomelic dysplasia and related disorders such as Léri-Weill dyschondrosteosis and Turner syndrome. Understanding the molecular basis of this condition is essential for accurate diagnosis, genetic counseling, and prenatal assessment in affected families.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontiersin.org/articles/10.3389/fgene.2026.1916483</guid>
        <link>https://www.frontiersin.org/articles/10.3389/fgene.2026.1916483</link>
        <title><![CDATA[Correction: GWAS analysis of a depression cohort defined by an EHR-phenotyping algorithm reveals the role of immune regulations in depression risk]]></title>
        <pubdate>2026-07-22T00:00:00Z</pubdate>
        <category>Correction</category>
        <author>Su Xian</author><author>David Carrell</author><author>Jordan W. Smoller</author><author>Wei-Qi Wei</author><author>Gail P. Jarvik</author><author>David R. Crosslin</author>
        <description></description>
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