Genes, Volume 17, Issue 6

Arrhythmogenic cardiomyopathy (ACM/ARVC) is an inherited myocardial disease characterized by progressive fibro-fatty replacement, ventricular arrhythmias, and an increased risk of sudden cardiac death. In addition to mutations in desmosomal genes, gr...

Objective: This umbrella review aimed to evaluate the strength and consistency of evidence linking genetic variants to dental caries susceptibility. Methods: An umbrella review was conducted, following PRISMA 2020 guidelines. A comprehensive literatu...

Generative artificial intelligence (AI) is transforming biological and medical research and data analysis. Beyond analyzing existing information, these models can learn complex patterns and generate new data such as realistic protein sequences, genet...

Background/Objectives: White–Sutton syndrome (WHSUS; OMIM 616364) is a rare neurodevelopmental disorder caused by pathogenic variants in the POGZ gene and characterized by developmental delay, intellectual disability, speech impairment, autism...

High levels of low-density lipoprotein cholesterol (LDL-c) have been recognized as the main causal factor of atherosclerotic cardiovascular disease (ASCVD) and are influenced by both genetic and environmental factors. Among genetic determinants, Fami...

Background: The genetic identification of Second World War (WWII) victims in Slovenia is a significant forensic challenge due to the varying taphonomic conditions of mass graves and the high degradation of skeletal remains. While recent studies highl...

Background: Thromboxane B2 Synthase 1 (THBS1), also known as TSP-1, is a multifunctional glycoprotein involved in various cellular processes that plays a crucial role in skeletal muscle development and repair. It acts as a key physiological activator...

Background/Objectives: Sex-specific differences in the pharmacokinetics of psychotropic drugs are gaining increasing clinical relevance, but only limited data are currently available on sex-specific effects within genetically defined metabolizer phen...

Environmental exposure to persistent and non-persistent endocrine-disrupting chemicals (EDCs), including per- and polyfluoroalkyl substances (PFAS), polychlorinated biphenyls (PCBs), polybrominated diphenyl ethers (PBDEs), polycyclic aromatic hydroca...

Objectives: This study investigated a variant, RPGR NM_001034853.2 c.1307G>A, p.[Gly436Asp, p?], in a large Irish pedigree with severe X-Linked Retinitis Pigmentosa (XLRP). The effect of the variant on RNA splicing was interrogated using in vitro...

Copy number variants (CNVs) are genomic rearrangements that carry a substantial risk for neurodevelopmental and neuropsychiatric disorders. Among these, recurrent deletions and duplications at the 16p11.2 locus are robustly associated with autism spe...

Background/Objectives: Cervical cancer is mainly driven by persistent infection with high-risk human papillomaviruses (HPV), particularly HPV16 and HPV18. Despite advances in cytology, HPV-DNA testing and vaccination, challenges remain in the triage...

We report the oldest female identified to date with a pathogenic NBEA variant who has been followed longitudinally. She presented with a complex, diagnostically inconclusive psychiatric phenotype extending in adulthood and a suspected mild neurodevel...

Background: Di19 (drought-induced 19)proteins belong to the C2H2-type zinc-finger family and play a crucial role in regulating plant growth, developmental processes, hormone signal transduction, and abiotic stress adaptation. However, research on the...

Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is an adult-onset inflammatory disorder caused by acquired mutations in UBA1, the gene encoding the primary ubiquitin-activating enzyme. The recognition of VEXAS has transforme...

Objective: To evaluate the efficacy of NADPH oxidase 4 and miR-146a-5p in current treatment planning for ascending aortic aneurysms, independent of aortic diameter, and to develop protocols that will ensure the treatment of ascending aortic aneurysms...

Objective: TNFSF13B, which encodes B-cell-activating factor (BAFF) and peptidylarginine deiminase 4 (PADI4), plays crucial roles in the pathogenesis of ANCA-associated vasculitis (AAV). This study investigated the associations of single-nucleoti...

Wilson–Turner syndrome (WTS) is an X-linked developmental disorder associated with variants in the LAS1L gene, which plays a role in ribosome biogenesis. We report a 6-year-and-5-month-old boy presenting with growth retardation, early developme...

Background/Objectives: Mosquitoes, including Culex quinquefasciatus and Aedes aegypti, are important vectors of dengue fever, Zika virus, West Nile virus, Japanese encephalitis virus, Eastern equine encephalitis virus, etc. Biological control has alw...

Background: The NAC family constitutes one of the largest families of plant-specific transcription factors and plays crucial roles in fruit development, ripening, seed life, and stress responses. However, comprehensive characterization of NAC genes i...

Background: Uridine diphosphate glucose (UDP-Glc) is one of the key substrates for the biosynthesis of gallotannins in plants. UDP-glucose dehydrogenase (UGD) catalyzes the irreversible oxidation of UDP-Glc to UDP-glucuronic acid (UDP-GlcA), thus aff...

Background/Objectives: Advances in whole-genome sequencing (WGS) technology have led to the widespread adoption of WGS for investigating genetic diseases and traits in domestic animals. This has created a need for improved methods for prioritizing ca...

Background: Variants in anoctamin 3 (ANO3) are linked to autosomal dominant dystonia, commonly known as DYT-ANO3 (OMIM: #615034). While craniocervical dystonia constitutes the most frequently observed phenotype, its clinical manifestations display si...

Background/Objectives: As the most prevalent supraventricular arrhythmia, affecting around 1% of people worldwide, atrial fibrillation (AF) is implicated with a multitude of detrimental clinical sequelae, encompassing congestive failure, thromboembol...

Background: Anthocyanin biosynthesis is tightly controlled by MYB transcription factors, yet the role of repressors, particularly those in the DIVARICATA-like (DIV) subfamily, remains poorly characterized. Methods: A genome-wide identification of MYB...

Background/Objectives: Banana (Musa spp.) production is severely threatened by Fusarium wilt caused by Fusarium oxysporum f. sp. cubense tropical race 4 (Foc TR4), highlighting the need to identify genetic determinants of resistance. Methods: We perf...

Background/Objectives: IL23R encodes a pivotal component of the IL-23/Th17 signaling axis and represents a validated genetic susceptibility locus for inflammatory bowel disease (IBD), psoriasis, and ankylosing spondylitis. Despite extensive GWAS data...

The rapid evolution of metabolic resistance to chemical insecticides and the adaptation to plant allelochemicals in insect pests have become major challenges in global pest management. While the overexpression of cytochrome P450 monooxygenases (P450s...

Transfer RNAs (tRNAs) are chemically matured decoding molecules that are central to protein synthesis. Their post-transcriptional modifications, especially those in the anticodon stem-loop (ASL), shape local RNA structure, codon recognition and trans...

Background: Osteoarthritis (OA) is a heterogeneous joint disease characterized by cartilage degeneration. The interplay between extracellular matrix (ECM) remodeling, endoplasmic reticulum (ER) stress, and inflammatory signaling in OA pathogenesis re...

DNA/cell mass homeostasis is a pervasive feature of living organisms. As the cell grows in response to nutrient availability, it must duplicate each chromosome once and only once each division cycle. Across the eukaryote Tree of Life, cells differ in...

Background/Objectives: Fig (Ficus carica L.) is considered a valuable fruit owing to its rich health-promoting ingredients, including anthocyanins. However, little information is available on the regulatory networks that reveal anthocyanin biosynthes...

Background: Pathogenic BRCA1 and BRCA2 mutations confer a homologous recombination deficiency that underlies PARP inhibitor sensitivity. While BRCA1 mutation carriers more frequently develop triple-negative breast cancer (TNBC) and BRCA2 carriers hor...

Background/Objectives: Polychlorinated biphenyls (PCBs) are persistent environmental contaminants associated with chronic toxicity and neurological dysfunction. PCB 153 is among the most prevalent congeners detected in environmental and dietary matri...

GM1 gangliosidosis is an autosomal recessive lysosomal storage disorder caused by a deficiency of β-galactosidase due to pathogenic variants in the GLB1 gene. Almost 300 pathogenic or likely pathogenic variants have been identified, associated w...

Background/Objectives: Popcorn (Zea mays L. var. everta) is an important specialty maize type; however, the genetic variation underlying popping-related quality traits remains insufficiently characterized in breeding. Methods: In this study, 18 popco...

Background/Objectives: Melophagus ovinus is an economically important ectoparasite of small ruminants with a broad global distribution. Although mitochondrial genomes are widely used in population genetic studies, the D-loop region of M. ovinus remai...

Background/Objectives: NPF proteins are important transporters that mediate nitrate uptake, nutrient allocation, and abiotic stress responses in plants. However, the evolutionary patterns of the NPF gene family in grasses remain largely unclear. This...

Background/Objectives: DNAJC3-related syndromic monogenic diabetes is a rare autosomal recessive disorder that presents as juvenile-onset non-autoimmune diabetes; it has been associated with sensorineural hearing loss, hypothyroidism, short stature,...

Since the first plant gene essential for arbuscular mycorrhizal (AM) symbiosis was identified, more than 170 such genes have been discovered. However, these findings remain scattered across species, and a systematic synthesis is urgently needed to gu...

Background/Objectives: Chronic obstructive pulmonary disease (COPD) is increasingly viewed as a disorder of impaired cellular adaptation to chronic stress, involving oxidative injury, mitochondrial dysfunction, and accelerated cellular senescence. We...

Background/Objectives: Acute lymphoblastic leukaemia (ALL) is a biologically heterogeneous disease in which transcriptional dysregulation contributes to disease onset and progression. Despite survival rates exceeding 90% in high-income countries, rel...

Human ageing and longevity are increasingly understood as biologically integrated and heterogeneous processes shaped by interactions among genetic susceptibility, epigenetic remodelling, and environmental modulation. This narrative review examines th...

Background/Objectives: Early-life environment may influence long-term neurodevelopment through epigenetic regulation. Serotonergic and glutamatergic pathways are central to brain development and have been implicated in DNA methylation changes followi...

Background/Objectives: Inherited variants in IKZF1 and CDKN2A/2B are among the most consistently reported germline susceptibility markers for childhood acute lymphoblastic leukemia (ALL). Nonetheless, effect sizes differ across ancestry groups, age r...

Transthyretin amyloidosis (ATTR) is a multisystemic disorder associated with extracellular accumulation of misfolded transthyretin (TTR) protein forming insoluble amyloid deposits. Depending on the TTR genotype, ATTR is classified as hereditary ATTR...

Background/Objectives: Arthrochalasia Ehlers–Danlos syndrome (aEDS) is a rare connective tissue disorder characterized by severe joint hypermobility, congenital hip dislocation, skin hyperextensibility, and muscle hypotonia. It is typically cau...

Background/Objectives: Intraspecific aggression and cannibalism severely reduce survival in aquaculture of the Japanese swimming crab, Portunus trituberculatus. Starvation can induce stress-related behavioral changes and alter aggressive behavior in...

Introduction: Lung cancer, the leading cause of cancer-related mortality worldwide, is a heterogeneous malignancy comprising distinct histological and molecular subtypes, with non-small cell lung cancer (NSCLC) accounting for approximately 85% of cas...

Background/Objectives: Barley malting is an agro-industrial process that produces malt, an essential ingredient for the brewing and distilling industries. Previously, tran-scriptome profiling has revealed mRNA changes during malting but less is known...