Most Recent

Background/Objectives: Human-driven environmental change can promote cancer development in wild species, yet the pathophysiology of wildlife cancers remain largely unexplored. Urogenital carcinoma (UGC) in the California sea lion (CSL) (Zalophus cali...

Background: The incidence and prevalence of type 2 diabetes mellitus (T2DM) has been increasing worldwide recently. Diabetic retinopathy (DR) is a major ocular complication of diabetes mellitus, and it is the leading cause of blindness and visual imp...

Background: The most common form of monogenic diabetes is maturity onset diabetes of the young (MODY). This study investigates the molecular basis of MODY type 2 (GCK-MODY) in a group of Italian patients, focusing on the functional characterization o...

Background/Objectives: Females are generally more resistant to ischemia-related ferroptosis than males, due to differences in iron metabolism, antioxidant pathways, and sex hormone-mediated regulation of ferroptosis suppressors. This has not been sys...

Background/Objectives: Arctic foxes (Vulpes lagopus) exemplify the vulnerability of Arctic species to global warming and anthropogenic impacts, including habitat loss, interspecific competition with temperate species, pollution (chemical and biologic...

Background: Acute myeloid leukemia (AML) is genomically heterogeneous, and translating baseline molecular data into individualized prognosis remains difficult. We assessed real-world outcomes and externally validated the Sanger Institute AML multista...

Background/Objectives: Interpreting missense variants in intrinsically disordered proteins (IDPs) remains a major challenge, as these proteins lack stable structure and are under-represented in experimental and clinical annotations. Variants occurrin...

Background/Objectives: Flea beetles (Coleoptera, Chrysomelidae: Alticinae) show extensive karyotypic diversity, yet cytogenetic and genomic data remain scarce for many taxa. Species of the genus Podagrica are characterized by unusually high chromosom...

Background: Diabetes mellitus is characterized by elevated blood sugar due to absolute or relative insulin deficiency. Diabetes is classified as type 1 (T1D) or type 2 diabetes (T2D), gestational diabetes, and other types, such as monogenic diabetes,...

Background/Objectives: Adeno-associated virus serotype 9 (AAV9) can cross the blood–brain barrier, making it widely used as a gene delivery vector for central nervous system (CNS) applications. Despite extensive use of AAV9 in translational res...

Background: Anterior cruciate ligament (ACL) rupture, Achilles tendinopathy, and stress fracture are common sports injuries with significant long-term effects on performance and health. Despite similar exposure, injury susceptibility varies among ath...

Background/Objectives: Hypermobile Ehlers–Danlos syndrome (hEDS) remains genetically unexplained despite decades of clinical investigation, with the molecular basis undefined for the vast majority of cases. This study employs integrated machine...

Background/Objectives: Ram fertility is essential for sheep production, influenced by genetic, physiological, behavioral, and environmental factors. This narrative review synthesizes findings from over 190 peer-reviewed publications to evaluate the p...

Background/Objectives: Next-generation sequencing (NGS) has become the standard of care for identifying actionable genomic alterations in non-small cell lung cancer (NSCLC). This study aims to describe the clinicopathological characteristics and geno...

Siberian cats are characterized by a high level of genetic variability, which is also reflected in a wide range of colour variations. Knowledge about the genetic background of these coat colour varieties is fragmented and predominantly derived from r...

Background: Formin proteins are crucial regulators of actin filament assembly and elongation in eukaryotic cells, playing important roles in plant development and abiotic stress responses. However, the functional characterization of formins in Brassi...

Background: Fas/FasL-mediated apoptosis is central to immune homeostasis and is implicated in autoimmune lymphoproliferative syndrome (ALPS) and immune thrombocytopenia (ITP). We aimed to compare whole-blood transcriptional levels of CASP8 and CASP3...

Background: Cholesterol imbalances and elevated blood pressure (BP) are closely interrelated risk factors for cardiovascular disease (CVD) and are subject to genetic influences. We sought to identify novel associations between candidate genetic codin...

Background/objectives: A rise in infections associated with carbapenem-resistant Providencia species (CRPS) has been observed worldwide. This study presents a genomic analysis of CRPS isolates from four hospitals in Croatia and the outpatient setting...

Genetic variation underlies the capacity of populations to adapt, yet what drives how this variation is generated and maintained in natural populations remains poorly understood. Fundamental processes such as mutation, ploidy, and recombination are k...

Background/Objectives: Phelan–McDermid syndrome (PMS), caused by either chromosome 22q13.3 deletions or pathogenic/likely pathogenic variants in the SHANK3 gene, is a rare neurodevelopmental disorder. Behavioral issues greatly impair the qualit...

Background/objectives: Grapevine (Vitis vinifera L.) is one of the most economically and culturally important fruit crops worldwide and hosts more than 100 viruses. Viral infections can cause severe yield losses, but plants can adapt to infection thr...

Background/Objectives: Short Interspersed Nuclear Elements (SINEs) constitute major components of mammalian genomes, but the structural diversity and evolutionary dynamics of their characteristic 3′ poly(A) tails have not been fully characteriz...

Background: The subtribe Pleurothallidinae is a diverse group within Orchidaceae with a complex taxonomic history. Comparative plastome analysis can provide insights into genome evolution and facilitate phylogenetic reconstruction. Methods: Here we a...

Background: This study determined the complete mitochondrial genome sequence of the marine crab to elucidate its phylogenetic position within Heterotremata, specifically the superfamily Goneplacoidea, and to explore the biological significance of its...

Background/Objectives: The elongated egg is a morphological mutant of silkworm (Bombyx mori) eggs, yet the biochemical processes and molecular mechanisms underlying this trait remain unclear. Methods: In this study, we performed transcriptome sequenc...

Background: Viburnum (Adoxaceae) is a species-rich woody genus whose taxonomy is complicated by morphological convergence and hybridization. Methods: We assembled complete plastomes of eight species representing five sections and analyzed their struc...

Background/Objectives. Oxidative stress is a key contributor to HIV-associated neurocognitive disorders (HANDs), yet the regional organization and functional engagement of the NRF2 antioxidant pathway in the human brain remain incompletely defined. T...

Background/Objectives: The Bedouins (nomads) and the Fellahin (farmers) of Jordan represent two distinct subpopulations, characterized by unique lifestyles, settlement patterns, and linguistic features. This study aims to estimate the frequency of 27...

Background/Objectives: Non-invasive samples offer an attractive alternative to logistically challenging invasive approaches in wildlife genetic studies but often contain low-quality host DNA that limits downstream analyses. Here, we assessed the appl...

Background/Objectives: Primary metabolic diseases including mitochondrial encephalomyopathies (ME), glycolytic enzymopathies, and disorders of lipid and amino acid metabolism can manifest with severe neurological and neuromuscular symptoms. Conversel...

Background: Interindividual radiosensitivity is largely driven by genetic regulation of DNA damage recognition, repair, and cell-cycle control. TP53 and CDKN1A (p21) are key genomic markers associated with differential responses to ionizing radiation...

Background/Objectives: Hepatocellular carcinoma (HCC) shows marked molecular and histopathological heterogeneity. Among the alterations most strongly associated with clinical outcome are mutations in TP53 and CTNNB1, as well as the presence of microv...

Background: The monocarboxylate transporter 1 (MCT1) plays a central role in myocardial lactate handling and metabolic adaptation. The functional rs1049434 polymorphism (T1470A; Asp490Glu) affects MCT1-mediated lactate transport and substrate utiliza...

Background: Obsessive–compulsive disorder (OCD) is a heterogeneous psychiatric condition with substantial heritability. Early genetic studies were often underpowered and produced limited reproducibility, but recent large-scale genomic and multi...

Background: Interpreting short tandem repeat (STR) profiles from low-template DNA (LT-DNA) requires consideration of the stochastic phenomena that can affect the reliability of genotypes. Although several probabilistic genotyping tools have been deve...

Background/Objectives: Alzheimer’s disease (AD) exhibits marked genetic heterogeneity between early-onset (EOAD) and late-onset (LOAD) forms. EOAD is typically associated with highly penetrant variants, whereas LOAD follows a polygenic architec...

Background/Objectives: Segmental duplications (SDs) are major drivers of genome evolution and structural variation in primates, particularly within acrocentric chromosomes, where rDNA arrays and duplicated sequences are densely clustered. However, th...

Background/Objectives: Gene expression-guided drug repurposing has emerged as a strategy to identify new therapy opportunities by associating disease transcriptional signatures with drug-induced gene expression profiles. This is relevant for prostate...

This systematic review synthesizes evidence on upland rice (Oryza sativa L.) genotypes resistant to neck blast disease caused by Magnaporthe oryzae, focusing on resistant lines, screening methods, and genetic factors underlying resistance. Empirical...

Background: The hairy ear (Eh) mutation in heterozygous mice (Eh/+) results in elongated and additional ear hairs, along with altered pinna morphology compared to wild-type (+/+) mice. Previous studies suggest that disruption of the Hoxc gene cluster...

Purpose: Gibberellins (GAs) are key phytohormones that regulate plant growth, development, and responses to environmental stress, and their metabolism is mediated by 2-oxoglutarate-dependent dioxygenases (2OGDs). Cotton (Gossypium spp.) is a polyploi...

Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease, classically characterized by right ventricular outflow tract obstruction, ventricular septal defect, overriding aorta, and right ventricular hypertrophy. Recent advances...

Background: The Qingyuan partridge chicken is a high-quality local chicken breed in China. Its weight gain directly affects breeding efficiency. This study used RNA sequencing to analyze gene expression dynamics in the breast muscle tissue of Qingyua...

Langer–Giedion syndrome (LGS), also known as trichorhinophalangeal syndrome type II (TRPS II; OMIM #150230), is a contiguous-gene deletion disorder caused by haploinsufficiency of TRPS1 and EXT1. Cornelia de Lange syndrome (CdLS) is genetically...

Objective: Accumulating evidence demonstrates that melatonin is involved in modulating granulosa cell function and follicular development. lncRNAs (long non-coding RNAs) and circRNAs (circular RNAs) have been reported to participate in multiple biolo...

Background/Objectives: The retromer protein complex is involved in various physiological processes, especially endosomal trafficking, and its dysregulation has been linked to Alzheimer’s disease and Parkinson’s disease, as well as VPS35 k...

Objectives: To characterize the prenatal phenotypic spectrum, genetic findings, and pregnancy outcomes of fetal renal agenesis (RA), and to clarify the complementary roles of chromosomal microarray analysis (CMA) and whole exome sequencing (WES) in p...

Purpose: Colorectal cancer (CRC) is a highly aggressive malignancy of the digestive system. Somatic variants in the Kirsten rat sarcoma virus oncogene homolog (KRAS) gene have a significant influence on CRC progression and serve as key predictors of...

Background/Objectives: Accurate estimates of variance components are essential in breeding programs. In this context, the main objective of this study was to estimate variance components for growth traits in the Montana Composite^® beef population...