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Genes, Volume 17, Issue 5

2026 May - 101 articles

Cover Story: Skin aging is a dynamic and multifactorial biological process driven by interactions between genetic regulation, molecular pathways, and environmental exposures. This review explores how transcriptomic aging clocks utilize gene-expression signatures to estimate biological age and reveal the molecular mechanisms underlying skin aging. By integrating transcriptomics with machine learning and explainable artificial intelligence (XAI), these models capture alterations in cellular senescence, inflammation, DNA damage response, and extracellular matrix remodeling. Advances in bulk, single-cell, and spatial transcriptomics further support predictive and personalized dermatology through transcriptomic and multi-omics integration. View this paper
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Articles (101)

  • Article
  • Open Access
1 Citations
1,249 Views
25 Pages

21 May 2026

Background: Ovarian cancer (OVCA) remains the most lethal gynecologic malignancy, with poor prognosis largely due to late-stage diagnosis and therapy resistance. Pyroptosis, a pro-inflammatory form of programmed cell death, has recently emerged as a...

(This article belongs to the Special Issue Computational Genomics and Bioinformatics of Cancer)
  • Article
  • Open Access
779 Views
13 Pages

21 May 2026

Background: The litchi fruit borer, Conopomorpha sinensis (Lepidoptera: Gracillariidae), is a devastating pest affecting litchi and longan production across Asia. Although a reference mitochondrial genome (mitogenome) has been published, its utility...

(This article belongs to the Section Animal Genetics and Genomics)
  • Review
  • Open Access
824 Views
25 Pages

Role of Caveolin-1 in Inflammation: Genetic Predisposition and Potential Implication for Multiple Sclerosis

  • Bruk Getachew,
  • Matthew R. Miller,
  • Harold E. Landis,
  • Robert E. Miller and
  • Yousef Tizabi

21 May 2026

Multiple Sclerosis (MS) is a chronic, immune-mediated disorder of the central nervous system characterized by leukocyte infiltration, inflammation, demyelination, and progressive neurodegeneration. Susceptibility to MS is influenced by genetic factor...

(This article belongs to the Section Toxicogenomics)
  • Article
  • Open Access
593 Views
21 Pages

Stage-Specific Expression of Lens-Associated Structural Genes During Early Embryogenesis in European Seabass (Dicentrarchus labrax)

  • Andreas Tsipourlianos,
  • Nikolaos Veliotis,
  • Rafael Angelakopoulos,
  • Themistoklis Giannoulis and
  • Katerina A. Moutou

21 May 2026

Background/Objectives: Lens development is an essential component of visual-system development during fish embryogenesis, yet its transcriptional timing remains poorly characterized in European seabass (Dicentrarchus labrax). This study aimed to prov...

(This article belongs to the Section Animal Genetics and Genomics)
  • Review
  • Open Access
1 Citations
695 Views
25 Pages

21 May 2026

Long non-coding RNAs (lncRNAs) have emerged as pivotal regulators in mammalian skeletal muscle development, moving beyond their initial characterization as transcriptional “noise”. Unlike previous reviews that focus primarily on individua...

(This article belongs to the Section Cytogenomics)
  • Article
  • Open Access
836 Views
17 Pages

21 May 2026

Background: Endometrial carcinoma (EC) is now classified primarily by molecular subtype—POLE-ultramutated, mismatch repair–deficient (dMMR), TP53-mutant/copy-number-high (CNH), and “no specific molecular profile” (NSMP)—...

(This article belongs to the Section Molecular Genetics and Genomics)
  • Article
  • Open Access
1,124 Views
13 Pages

The Impact of UGT1A1 Genetic Variability on Enzyme Expression in Liver Pathology

  • Sylwia Szeląg-Pieniek,
  • Joanna Kucak,
  • Damian Malinowski,
  • Stefan Oswald,
  • Marek Droździk and
  • Mateusz Kurzawski

21 May 2026

Background: Glucuronidation is a major phase II biotransformation reaction responsible for the inactivation and elimination of endogenous compounds and pharmaceuticals. This process is catalyzed by enzymes belonging to the UDP-glucuronosyltransferase...

(This article belongs to the Section Pharmacogenetics)
  • Article
  • Open Access
849 Views
16 Pages

COCH-Related Hearing Loss in a French Cohort: Novel Variants and Genotype–Phenotype Correlations

  • Ralyath Balogoun,
  • Margaux Serey-Gaut,
  • Véronique Pingault,
  • Isabelle Lemiere,
  • Geneviève Lina-Granade,
  • Geoffroy Delplancq,
  • Anne Marie Guerrot,
  • Annick Toutain,
  • Delphine Dupin-Deguine and
  • Sandrine Marlin
  • + 4 authors

21 May 2026

Objectives: To characterize heterozygous pathogenic COCH variants in a French cohort with non-syndromic sensorineural hearing loss (NSHL) and assess genotype–phenotype correlations in autosomal dominant NSHL (DFNA9). Setting: National Reference...

(This article belongs to the Special Issue Diagnosis, Management and Therapy of Rare Diseases)
  • Article
  • Open Access
769 Views
19 Pages

21 May 2026

Background: The precise identification of cancer subtypes through the integration of multi-omics data has emerged as a key research direction in bioinformatics. Among existing multi-omics integration methods, similarity graph-based clustering algorit...

(This article belongs to the Section Bioinformatics)
  • Article
  • Open Access
1,526 Views
17 Pages

Identification of the PsEXP Gene Family and Functional Analysis of PsEXPA4-1 During Flower Opening Process in Tree Peony (Paeonia suffruticosa)

  • Jiayi Ying,
  • Zhishuang Wang,
  • Yinuo Shen,
  • Yangdeng Lin,
  • Yao Wang,
  • Congying Zhu,
  • Yiyang Xu,
  • Luanfang Lin,
  • Xiangtao Zhu and
  • Qianqian Wang
  • + 1 author

21 May 2026

Background/Objectives: Tree peony (Paeonia suffruticosa) has a short flowering period, and its regulatory mechanisms remain poorly understood. These limitations have severely constrained its industrial development. Expansins (EXPs) are key proteins t...

(This article belongs to the Collection Feature Papers: 'Plant Genetics and Genomics' Section)
  • Article
  • Open Access
873 Views
23 Pages

Complete Mitochondrial Genome of Haemulon plumierii (Lacepède, 1801) Supports Its Use as a Sentinel Reef Fish

  • Mayra Alejandra Cañizares-Martínez,
  • Jesús Alejandro Zamora-Briseño,
  • Rafael F. Rivera-Bustamante and
  • Rossanna Rodríguez-Canul

20 May 2026

Background: Mitochondrial genomes provide valuable information on evolutionary relationships among organisms and on the selective pressures acting on energy metabolism, increasing their relevance in ecological and environmental genomics studies. Haem...

(This article belongs to the Section Animal Genetics and Genomics)
  • Review
  • Open Access
1,117 Views
17 Pages

Ciliopathies in Complex Congenital Heart Disease: Molecular Genetics, Embryologic Mechanisms and Clinical Implications

  • Maria Felicia Gagliardi,
  • Emanuele Micaglio,
  • Angelo Micheletti,
  • Sara Benedetti,
  • Andrea Giordano,
  • Baldassare Maria Alonzo,
  • Giulia Guglielmi,
  • Diana Gabriela Negura,
  • Alessandro Giamberti and
  • Massimo Chessa

19 May 2026

Background/Objectives: Congenital heart malformations (CHDs) are not rare diseases, and, in many cases, their pathogenic mechanisms are well established. Several conotruncal defects are associated with genetic syndromes such as DiGeorge syndrome and...

(This article belongs to the Section Human Genomics and Genetic Diseases)
  • Article
  • Open Access
943 Views
17 Pages

19 May 2026

Objectives: Oculocutaneous albinism (OCA), a group of inherited disorders characterized by deficient melanin synthesis, leads to hypopigmentation of the skin, hair, and eyes. OCA type 2 (OCA2) is caused by mutations in OCA2. This study aimed to chara...

(This article belongs to the Section Human Genomics and Genetic Diseases)
  • Editorial
  • Open Access
607 Views
3 Pages

Advanced Research in Forensic Genetics

  • Mauro Pesaresi and
  • Alessia Bernini Di Michele

19 May 2026

This Special Issue on advanced research in forensic genetics aims to showcase recent methodological developments, emerging challenges, and future perspectives in a field that is rapidly evolving under the pressure of technological innovation and incr...

(This article belongs to the Special Issue Advanced Research in Forensic Genetics)
  • Article
  • Open Access
1 Citations
670 Views
26 Pages

18 May 2026

Background/Objectives: Parkinson’s disease (PD) is associated with systemic molecular alterations that extend beyond the central nervous system, including changes in peripheral blood transcriptomic profiles. While prior studies have focused pre...

(This article belongs to the Section Genetic Diagnosis)
  • Article
  • Open Access
1 Citations
657 Views
23 Pages

18 May 2026

Background: Immune-related snoRNAs remain largely uncharacterized in cancer. Methods: We comprehensively investigated their functions and clinical relevance through an integrative pan-cancer analysis of The Cancer Genome Atlas (TCGA) datasets. We sys...

(This article belongs to the Section RNA)
  • Review
  • Open Access
1 Citations
1,399 Views
27 Pages

Beyond STRs: Integrative Forensic Genomics from MPS to Genetic Genealogy and AI-Based Prediction

  • Desiree Brancato,
  • Elvira Coniglio,
  • Francesca Bruno,
  • Simone Treccarichi,
  • Mirella Vinci,
  • Francesco Calì,
  • Salvatore Saccone and
  • Concetta Federico

18 May 2026

Recent advances in forensic genetics are rapidly transforming the field from traditional DNA profiling toward integrative and predictive genomic approaches. While short tandem repeat (STR)-based typing remains the gold standard for human identificati...

(This article belongs to the Special Issue Novel Strategies in Forensic Genetics)
  • Article
  • Open Access
517 Views
14 Pages

18 May 2026

Background/Objectives: Oral mucositis (OM) is a common complication in laryngeal cancer (LC), during radiotherapy (RT), significantly affecting patient outcomes. Identifying sensitive biomarkers to predict OM severity is therefore crucial. MicroRNAs,...

(This article belongs to the Section RNA)
  • Article
  • Open Access
2 Citations
503 Views
15 Pages

18 May 2026

Background/Objectives: Rice fragrance is mainly determined by 2-acetyl-1-pyrroline (2-AP), which is negatively regulated by OsBADH2. However, the contribution of its paralog OsBADH1 to aroma-associated metabolism and GABA-linked abiotic stress respon...

(This article belongs to the Section Plant Genetics and Genomics)
  • Review
  • Open Access
1 Citations
1,744 Views
13 Pages

From Mutation to Manifestation: Penetrance in Amyotrophic Lateral Sclerosis

  • Elodie Richard,
  • Sally Al-Hajj Vourc’h,
  • Sylviane Marouillat,
  • Stéphane Beltran,
  • Hélène Blasco,
  • Philippe Corcia and
  • Patrick Vourc’h

18 May 2026

Amyotrophic lateral sclerosis (ALS) is an adult-onset neurodegenerative disease characterized by progressive loss of motor neurons in the brain and spinal cord. While most cases are sporadic, around 10% are familial. Recent genetic studies show that...

(This article belongs to the Special Issue Feature Papers in "Neurogenetics and Neurogenomics": 2026)
  • Article
  • Open Access
1,434 Views
12 Pages

Pharmacogenetic Analysis of Variants in IL-6 Signaling and Response to Modern Therapeutic Approaches in Greek Patients with Atopic Dermatitis

  • Dimitra Triantafillidi,
  • Vasiliki Tziouvara,
  • Alexandros Pontikas,
  • Adam Akritidis,
  • Charalabos Antonatos,
  • Aikaterini Zacharopoulou,
  • Aikaterini Tsiogka,
  • Ileana-Afroditi Kleidona,
  • Katerina Grafanaki and
  • Yiannis Vasilopoulos
  • + 6 authors

18 May 2026

Background/Objectives: We conducted the first pharmacogenetic investigation of atopic dermatitis in a cohort of 43 Greek patients, focusing on key variants within the IL6/JAK/STAT signaling axis, a pathway central to inflammation and therapeutic targ...

(This article belongs to the Special Issue Pharmacogenomics and Pharmacoepigenomics in Autoimmune Diseases: How Close We Are to Personalised Medicine)
  • Review
  • Open Access
1 Citations
813 Views
15 Pages

The Role of Pharmacogenetics in the Effectiveness of Rheumatoid Arthritis Treatment with Leflunomide

  • Paulina Plewa,
  • Anna Jędrasiak,
  • Oliwia Jerzyńska,
  • Aleksandra Dach,
  • Maria Domańska and
  • Andrzej Pawlik

18 May 2026

This article discusses rheumatoid arthritis (RA) as a chronic, systemic autoimmune disease leading to progressive joint damage and multi-organ complications. The complex pathogenesis of the disease is presented, involving the interaction of environme...

(This article belongs to the Special Issue Pharmacogenomics and Pharmacoepigenomics in Autoimmune Diseases: How Close We Are to Personalised Medicine)
  • Review
  • Open Access
1 Citations
1,575 Views
33 Pages

The CTLA-4 Pathway in Human Disease: Molecular Mechanisms and Therapeutic Targeting

  • Simone Negrini,
  • Stefania Nicola,
  • Iuliana Badiu,
  • Anna Quinternetto,
  • Ilaria Vitali,
  • Luca Lo Sardo and
  • Luisa Brussino

18 May 2026

Background/Objectives: CTLA-4 is a key checkpoint of peripheral immune regulation, yet its biology cannot be reduced to inhibitory signaling alone. This review discusses CTLA-4 as a dynamic regulatory pathway shaped by ligand handling, intracellular...

(This article belongs to the Special Issue The Function and Molecular Mechanism for Immune Responses in Human Diseases)
  • Article
  • Open Access
592 Views
11 Pages

Complete Plastome Sequence of Grimmia tergestina Provides a Genomic Resource for Grimmiaceae

  • Hengyu Dai,
  • Shouqiang Li,
  • Huakun Zhou,
  • Xiaojuan Li and
  • Jiuli Wang

18 May 2026

Background/Objectives: Grimmia tergestina is a lithophytic moss of Grimmiaceae, but its complete plastome has not previously been reported. This Brief Report presents the complete chloroplast genome of G. tergestina as a genomic resource for future w...

(This article belongs to the Section Plant Genetics and Genomics)
  • Review
  • Open Access
1 Citations
879 Views
21 Pages

18 May 2026

Economic traits in livestock and poultry arise from the intricate interplay between genetic inheritance and environmental factors, mediated largely by epigenetic regulation. Histone modifications, particularly methylation and acetylation, serve as fu...

(This article belongs to the Section Animal Genetics and Genomics)
  • Article
  • Open Access
1 Citations
590 Views
15 Pages

18 May 2026

Background: Maize shoot height is an important component of early vigor and plant architecture; however, its genetic basis during seedling development and its relationship with modern breeding remain insufficiently understood. This study aimed to inv...

(This article belongs to the Special Issue Advancing Crop Quality with Genomics, Genetics and Biotechnology)
  • Article
  • Open Access
652 Views
14 Pages

17 May 2026

Background/Objectives: Epigenetic regulation plays a fundamental role in controlling the spatiotemporal expression of genes in plants under stressful environmental conditions. While LIKE HETEROCHROMATIN PROTEIN 1 (LHP1) is known to be involved in his...

(This article belongs to the Section Plant Genetics and Genomics)
  • Article
  • Open Access
1 Citations
581 Views
17 Pages

Integrating Multi-Environment Phenotypes and Genome-Wide Variation to Evaluate Diversity and Identify Representative Germplasm in Specialty Maize

  • Hui Wang,
  • Zhixiong Zhao,
  • Wen Xu,
  • Pingdong Sun,
  • Siyu Zhao,
  • Jingtao Qu,
  • Yinxiong Hu,
  • Jihui Wei and
  • Hongjian Zheng

17 May 2026

Objectives: To facilitate the innovation and efficient utilization of specialty maize germplasm, this study aimed to systematically evaluate a panel of 222 inbred lines. The objective was to comprehensively characterize phenotypic variation, genetic...

(This article belongs to the Section Plant Genetics and Genomics)
  • Article
  • Open Access
625 Views
18 Pages

Identification of QTL and Candidate Genes Controlling Plant Height and Internode Length in a Newly Characterized Bread Wheat Recombinant Inbred Population

  • Zidong Wan,
  • Shuai Ge,
  • Mengxin Li,
  • Xinyan Wang,
  • Dongjie Cui,
  • Qing Chi,
  • Bing Li,
  • Hangbo Xu,
  • Jialing Lu and
  • Panfeng Guan
  • + 2 authors

17 May 2026

Background: Internode length (IL), a key component of plant height (PH), plays an important role in achieving the optimal architecture in wheat. However, the genetic mechanisms underlying internode elongation are not well understood. Methods: In this...

(This article belongs to the Special Issue Genetic Architecture of Wheat Domestication- and Improvement-Related Traits)
  • Article
  • Open Access
1,018 Views
17 Pages

Landscape Genetics Reveals Geographic Structuring of Locally Adapted Goat Populations from Brazil, Spain, and Ecuador

  • Luis Antonio Castillo Cevallos,
  • Laura Leandro da Rocha,
  • Edgar Lenin Aguirre Riofrio,
  • Amparo Martinez Martinez,
  • Juan Vicente Delgado Bermejo and
  • Maria Norma Ribeiro

15 May 2026

Background: Locally adapted goat populations represent important reservoirs of genetic diversity and play a crucial role in the sustainability of livestock production systems, particularly in marginal environments. However, many of these populations...

(This article belongs to the Section Animal Genetics and Genomics)
  • Case Report
  • Open Access
750 Views
12 Pages

15 May 2026

Background/Objectives: As a global chromatin organizer, SATB1 is increasingly implicated in neurodevelopmental disorders (NDDs). This study aims to delineate the clinical and molecular characteristics of a novel de novo SATB1 variant in a patient pre...

(This article belongs to the Special Issue Diagnosis, Management and Therapy of Rare Diseases)
  • Article
  • Open Access
1,407 Views
12 Pages

14 May 2026

Background/Objectives: Spaceflight presents a combination of physical and psychosocial stressors that may impact biological aging and health. Understanding how spaceflight influences molecular aging processes is essential as commercial and profession...

(This article belongs to the Special Issue Epigenetic Dynamics in Cancer and Aging)
  • Article
  • Open Access
888 Views
15 Pages

Effect of UV-C Radiation on Genomic Variation in Chlamydomonas reinhardtii

  • Rosa Paola Radice,
  • Francesca Padula,
  • Valeria Iannelli,
  • Xavier Montagnuolo,
  • Antonio Scopa,
  • Marios Drosos and
  • Giuseppe Martelli

13 May 2026

Background: Ultraviolet-C (UV-C) radiation is a high-energy physical mutagen capable of inducing DNA damage and oxidative stress, thereby generating genomic variability in photosynthetic organisms. However, its genome-wide effects in unicellular euka...

(This article belongs to the Section Plant Genetics and Genomics)
  • Article
  • Open Access
1,835 Views
25 Pages

11 May 2026

Background: Tumor-associated macrophages (TAMs) are key components of the hepatocellular carcinoma (HCC) microenvironment, but their spatial heterogeneity remains incompletely characterized. We aimed to assess the biological and prognostic relevance...

(This article belongs to the Special Issue Single-Cell and Spatial Multi-Omics in Human Diseases)
  • Article
  • Open Access
1,247 Views
17 Pages

9 May 2026

Background/Objectives: The wall-associated kinases (WAKs) and WAK-like proteins (WAKLs) comprise a unique receptor-like kinase subfamily in plants, which have been shown to regulate plant development and defense responses by sensing cell wall-derived...

(This article belongs to the Section Plant Genetics and Genomics)
  • Article
  • Open Access
601 Views
14 Pages

9 May 2026

Background: Acanthosomatidae (Hemiptera: Pentatomoidea), commonly known as parent bugs, is a comparatively small pentatomoid family whose biological distinctiveness is exemplified by the repeated evolution of maternal egg–nymph guarding in seve...

(This article belongs to the Special Issue Molecular Evolution and Mitochondrial Genomics in Animals)
  • Article
  • Open Access
853 Views
11 Pages

ACTN3 rs1815739 and BDNF rs6265 Polymorphisms May Not Be Associated with Handgrip Strength in Elite Wrestlers

  • Ebru Dolu,
  • Savaş Orhan,
  • Celal Bulgay,
  • Hasan Hüseyin Kazan,
  • David Varillas-Delgado,
  • Attila Szabo,
  • Mehmet Ali Ergün and
  • Luca Paolo Ardigò

8 May 2026

Background/Objectives: Handgrip strength (HGS) is a widely used indicator of upper-limb muscular strength and a practical proxy for neuromuscular performance across both clinical and athletic contexts. Although HGS is heritable, evidence supporting s...

(This article belongs to the Section Molecular Genetics and Genomics)
  • Article
  • Open Access
869 Views
19 Pages

Transcriptome and Behavioral Assessment in Larval Zebrafish (Danio rerio) Following Exposure to Perfluorononanoic Acid (PFNA)

  • Lev Avidan,
  • Cole D. English,
  • Katie A. McDonnell,
  • Emma Ivantsova and
  • Christopher J. Martyniuk

7 May 2026

Background/Objectives: Per- and polyfluoroalkyl substances (PFAS) are environmentally persistent chemicals widely detected in aquatic systems and drinking water. Perfluorononanoic acid (PFNA), a long-chain PFAS, has been reported globally in environm...

(This article belongs to the Section Toxicogenomics)
  • Article
  • Open Access
771 Views
22 Pages

Overexpression of an Alfalfa Gene, MsCKX5, Confers Cold Tolerance in Transgenic Arabidopsis thaliana

  • Lin Bian,
  • Xiaowei Huo,
  • Qi Chen,
  • Yan Zhang,
  • Na Guo,
  • Jing Xu,
  • Jianwei Li and
  • Zhiqiang Zhang

6 May 2026

Background: Cytokinin oxidase/dehydrogenase (CKX) can irreversibly degrade cytokinin, regulating the growth and development of plants and helping them cope with environmental stress. Methods: To understand the expression characteristics and the biolo...

(This article belongs to the Section Plant Genetics and Genomics)
  • Review
  • Open Access
947 Views
31 Pages

Pericytes: Biomarkers and Roles in Thoracic Aortic Aneurysm

  • Theodora M. Stougiannou and
  • Dimos Karangelis

5 May 2026

The aorta is the largest vascular conduit in humans, comprising three layers and a multitude of varying cell types collectively maintaining homeostasis and normal aortic wall function. Amongst these layers, the tunica adventitia is the external-most...

(This article belongs to the Special Issue Genetic Insights into Aortic Aneurysm Disease)
  • Article
  • Open Access
691 Views
13 Pages

Clinical Variability Within the PLOD2-Associated Phenotypic Continuum: Three Novel Variants in Four Patients from a Descriptive Case Series

  • Elena S. Merkuryeva,
  • Evgeniya A. Melnik,
  • Vladimir M. Kenis,
  • Svetlana I. Trofimova,
  • Olga E. Agranovich,
  • Yuri V. Buklemishev,
  • Khushnud K. Rustamov,
  • Denis V. Chistol,
  • Tatiana S. Nagornova and
  • Tatiana V. Markova
  • + 1 author

5 May 2026

Background/Objectives: Bruck syndrome type 2 (BS2) is an ultra-rare autosomal recessive disorder within the osteogenesis imperfecta (OI) spectrum caused by biallelic pathogenic variants in PLOD2, which encodes lysyl hydroxylase 2 (LH2), an enzyme ess...

(This article belongs to the Special Issue Advances in Molecular Genetics of Rare Disorders)
  • Article
  • Open Access
641 Views
13 Pages

Association Analysis of the AGTR2:rs1403543 Polymorphism with Newborn Kidney Size

  • Karol Miler,
  • Iwona Gorący,
  • Beata Łoniewska,
  • Klaudyna Lewandowska,
  • Martyna Lica-Miler,
  • Monika Rychel and
  • Andrzej Ciechanowicz

5 May 2026

Background: The correlation between renal volume (or mass) and nephron number in newborns allows the use of the total kidney volume (TKV) at birth as a surrogate for congenital nephron number. Previously, the wide variation in final nephron number (t...

(This article belongs to the Section Molecular Genetics and Genomics)
  • Review
  • Open Access
716 Views
20 Pages

5 May 2026

Neurodevelopmental disorders (NDDs) are characterized by remarkable phenotypic heterogeneity, in which individuals harboring mutations in the same gene display divergent clinical manifestations, ranging from mild cognitive impairment to severe neurod...

(This article belongs to the Special Issue Feature Papers in "Neurogenetics and Neurogenomics": 2026)
  • Case Report
  • Open Access
869 Views
9 Pages

5 May 2026

This study reports a previously unreported heterozygous MYCN missense variant, c.454G>A (p.Ala152Thr), identified in a child and two affected relatives, with clinical findings consistent with Feingold syndrome type 1, an autosomal dominant develop...

(This article belongs to the Section Genetic Diagnosis)
  • Article
  • Open Access
1,349 Views
10 Pages

DDX3X Syndrome: Clinical, Neuroimaging, AI-Assisted Facial Profiling and Genotype–Phenotype Correlations

  • Sara Hadj Sadok,
  • Alicia Irene Serra,
  • Leticia Diana Pias-Peleteiro,
  • Diana Salinas Chaparro,
  • Clara Xiol,
  • Judith Armstrong,
  • Encarna Guillén-Navarro and
  • Antonio F. Martínez-Monseny

5 May 2026

Background/Objectives: DDX3X syndrome (MIM#300958) is a neurodevelopmental disorder associated with intellectual disability, language impairment, and a characteristic neurobehavioral phenotype that predominantly affects females. Although dysmorphic f...

(This article belongs to the Section Human Genomics and Genetic Diseases)
  • Article
  • Open Access
1,060 Views
23 Pages

Genetic and Dietary Influences on Metabolic Traits in Gilthead Seabream (Sparus aurata)

  • Stavroula Oikonomou,
  • Rafael Angelakopoulos,
  • Maria Tekeoglou,
  • Andreas Tsipourlianos,
  • Zoi Kazlari,
  • Dimitrios Loukovitis,
  • Arkadios Dimitroglou,
  • Themistoklis Giannoulis,
  • Zissis Mamuris and
  • Katerina A. Moutou
  • + 1 author

5 May 2026

Background/Objectives: In gilthead seabream, the transition from fish meal/oil-based diets to diets with partial plant-based replacement is gaining ground due to price fluctuations and environmental concerns. Most studies focus on the dietary effects...

(This article belongs to the Section Animal Genetics and Genomics)
  • Article
  • Open Access
1 Citations
764 Views
20 Pages

4 May 2026

Background: Chemoreception plays a central role in how insects perceive environmental chemical cues and regulate essential behaviors. Mayflies (Ephemeroptera), among the earliest-diverging lineages of winged insects, are important bioindicators of fr...

(This article belongs to the Section Animal Genetics and Genomics)
  • Review
  • Open Access
1,015 Views
27 Pages

3 May 2026

Celiac disease (CD) is an immune-mediated enteropathy triggered by dietary gluten in genetically predisposed individuals. Although HLA-DQ2 and HLA-DQ8 are the primary genetic determinants of susceptibility, they are not sufficient to explain disease...

(This article belongs to the Section Molecular Genetics and Genomics)
  • Article
  • Open Access
901 Views
20 Pages

3 May 2026

Background/Objectives: The STAT (Signal Transducer and Activator of Transcription) family of seven transcription factors mediates cytokine and growth-factor signaling, regulating proliferation, differentiation, and immunity. While STAT3/STAT5 are est...

(This article belongs to the Special Issue Gene-Regulated Signaling Pathways in Cancer)
  • Review
  • Open Access
1,258 Views
47 Pages

The Evolution of the First Code

  • Lei Lei,
  • Savio Torres de Farias and
  • Zachary Frome Burton

2 May 2026

Background/Objectives: tRNAs, tRNAomes, aminoacyl-tRNA synthetases (AARSs), the first proteins, ribosomes and the genetic code coevolved. We utilize sequence data to reconstruct key steps in establishing the first code on Earth. Methods: Networks wer...

(This article belongs to the Special Issue The Origin and Evolution of Genetic Code)

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Genes - ISSN 2073-4425