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Background/Objectives: Syndromic retinitis pigmentosa (SRP) presents a significant diagnostic challenge due to marked clinical and genetic heterogeneity. This study aimed to characterize the molecular spectrum of SRP in the previously understudied Bu...
Background: Exercise improves skeletal muscle function in diabetic patients, although the underlying molecular mechanisms remain incompletely understood. Methods: Bioinformatic and molecular experiments were performed. Results: Published dataset anal...
Background: Next-generation sequencing (NGS) has transformed pediatric epilepsy care, but real-world data on diagnostic delay and clinical utility remain limited, particularly in Chinese populations. Methods: This retrospective cohort included 930 ch...
Background/Objectives: Biotic and abiotic stresses have a negative impact on agriculture worldwide, decreasing crop production. L-type LecRLKs are an important subgroup of the plant receptor-like kinases (RLKs) protein family that aids plants in resi...
Background/Objectives: Alternative polyadenylation (APA) remodels 3′ untranslated regions and may affect transcript stability, translational efficiency, and protein output without proportional changes in total mRNA abundance. Its tumor-epitheli...
Background/Objectives: Sex chromosomes may diverge genomically despite similar morphology. We investigated genomic differentiation and repetitive DNA organization in the giant sex chromosomes of Alagoasa trifasciata. Methods: Twenty specimens (12 mal...
MicroRNAs (miRNAs) are a predominant class of small non-coding RNA (sRNA) which regulates target gene expression to occupy fundamental roles in growth, development, metabolism, stress responses, pathogen defence, and disease onset and progression. Tr...
Monogenic neurological disorders remain challenging to treat because of the restricted permeability of the blood–brain barrier (BBB), the limited regenerative capacity of the central nervous system (CNS), and the difficulty of achieving therape...
Background/Objectives: Selenium biofortification is of interest for edible mushrooms, but excessive selenium (Se) may impair fungal growth and metabolic homeostasis. Methods: Agaricus bisporus mycelia were exposed to nominal sodium selenite (Na2...
Next-generation sequencing has transformed precision oncology, yet genomic alterations are still largely interpreted as binary events: present or absent, actionable or non-actionable. Variant allele frequency (VAF), defined as the proportion of seque...
Fibromyalgia is a complex chronic pain syndrome with poorly understood pathophysiology and no definitive biomarker. miRNAs are post-transcriptional regulators that might contribute to mechanisms implicated in fibromyalgia, including central sensitiza...
The expanding scope and sensitivity of genomic testing are reshaping hereditary cancer assessment, shifting attention from the detection of genomic variants alone to the more complex task of determining their significance, biological origin, and rele...
Background: Ubiquitination-related transcriptional programs may help characterize epithelial heterogeneity in endometrial carcinoma (EC). We aimed to identify candidates associated with these programs and epithelial plasticity. Methods: We integrated...
Perioperative delirium is an acute disturbance of attention and awareness that arises when surgical stress interacts with limited brain reserve. Synaptic dysfunction provides a plausible connection between genetic susceptibility, neuroimmune response...
Background/Objectives: Optimizing nitrogen fertilizer efficiency is crucial for sustainable agriculture, but the genetic basis of low-nitrogen (LN) tolerance in oat (Avena sativa L.), an important forage and grain crop, remains poorly characterized....
Neurodevelopmental disorders (NDDs) comprise a genetically and clinically heterogeneous group of conditions, with disruption of chromatin regulation and developmental gene-expression programs representing an important molecular mechanism underlying t...
Inherited cardiomyopathies are major causes of heart failure, malignant ventricular arrhythmia, and sudden cardiac death, and they require lifelong surveillance of affected individuals and clinically at-risk relatives. Their clinical genetics has tra...
ADRB2 encodes the β2-adrenergic receptor, which is involved in regulating cardiovascular and respiratory function and lipolysis. This narrative review (PubMed/MEDLINE, Scopus and Web of Science Core Collection, to 8 October 2026; Preferred Repor...
Congenital vertebral malformations (CVMs) encompass formation, segmentation and mixed defects, with or without scoliosis. This narrative review relates human genetic findings to paraxial mesoderm specification, somitogenesis, sclerotome differentiati...
Background: Termites (epifamily Termitoidae) represent the oldest known lineage of eusocial insects, yet their higher-level phylogenetic relationships remain contentious. Methods: We sequenced ten new termite mitochondrial genomes (mitogenomes) from...
Autism spectrum disorder (ASD) and epilepsy frequently co-occur, with the clinical overlap particularly evident in individuals with intellectual disability, developmental impairment, and genetically defined neurodevelopmental disorders. Advances in g...
Background/Objectives: High-throughput RNA sequencing enables transcript discovery and quantification, but the resulting coverage profiles often contain substantial transcriptional noise, making it difficult to distinguish genuine transcript features...
Background/Objectives: Inflammatory bowel disease (IBD) is a chronic immune-mediated disorder of the gastrointestinal tract. This study aimed to nominate candidate genes and pathways for IBD by integrating exome sequencing and gene expression data. M...
Master sex-determining genes (MSDGs) occupy the top of developmental hierarchies and act as molecular switches that initiate female or male differentiation. Despite their essential roles, MSDGs exhibit rapid evolutionary turnover across vertebrates....
Background: Codon usage bias has been analyzed in the Coffea arabica L. nuclear genome, yet comprehensive genomic resources for this species remain limited. The chloroplast genome, characterized by its maternal inheritance and high conservation, repr...
Background/Objectives: Multigenerational families with unusually early disease onset provide a unique opportunity to investigate the genetic architecture underlying the missing heritability of complex diseases. Here, we investigated the genetic basis...
Background: Colletotrichum camelliae is an important fungal disease in tea plants (Camellia sinensis), and NLR gene family play a central role in plant disease resistance recognition. Analyzing the expression characteristics and regulatory network of...
DNA most commonly adopts the canonical B-form double helix but can also form alternative conformations, collectively known as non-B DNA structures. These structures, including G-quadruplexes, i-motifs, hairpins, cruciforms, Z-DNA, H-DNA, R-loops, and...
Sudden cardiac death (SCD) is a leading cause of unexpected mortality worldwide and represents a major challenge in pathology, especially when conventional autopsy fails to identify a definitive cause of death. In these cases, molecular autopsy (MA)...
Background/Objectives: Knee osteoarthritis (KOA) is a major cause of disability, yet the molecular links between extracellular matrix (ECM) remodeling, focal adhesion signaling, and pathological chondrocyte state transitions remain incompletely defin...
Background/Objectives: Distinct cashmere-related traits are observed between long cashmere short wool (LC-SW) and short cashmere long-hair (SC-LW) Liaoning cashmere goats. Yet metabolic differences associated with these phenotypes remain poorly chara...
Background: The effect of different controlled ovarian hyperstimulation (COH) protocols on the microenvironment of follicular growth may be reflected by microRNA (miRNA) expression profiles. Downregulation of miR-4261 when progesterone is added in th...
Background: Preparations derived from Periplaneta americana, such as Kangfuxin Liquid, have been used in China for wound and ulcer management, yet their active constituents remain incompletely characterized. Recombinant P. americana thymosin isoforms...
Background/Objectives: Clinical cytogenetics has benefited from artificial intelligence (AI) integration into digital karyotyping systems for segmentation and classification of chromosomes. Metaphase image identification and capture utilize tradition...
Background: Mitochondrial genome size varies widely among mammals, yet whether this variation is systematically associated with major ecological transitions in locomotor mode remains unclear. Here, we compared complete mitochondrial genome length and...
Background: Copper transporters (COPTs) are essential for maintaining copper homeostasis in plants, a process critical for growth, development, and stress adaptation. However, the soybean GmCOPT family remains poorly characterized. Methods: In this s...
Background/Objectives: The Kazakh horse comprises several locally adapted types and ecotypes of the Eurasian Steppe. The Adai is its western ecotype, kept year-round on desert pasture in Mangystau, Western Kazakhstan, and recognised as a separate bre...
Background/Objectives: Plasmid-mediated dissemination of antimicrobial resistance genes complicates the control of bacterial infections. Identifying bacterial hosts likely to harbour these genes could guide genomic surveillance before such associatio...
Malignant Hyperthermia Susceptibility (MHS) is most commonly caused by pathogenic variants in the RYR1 gene. The proliferation of RYR1 Variants of Uncertain Significance (VUS) on diagnostic genetic panels poses a significant clinical challenge, often...
Background: The melanocortin-1 receptor (MC1R) gene is a major determinant of skin and hair color. Although several MC1R variants increase the risk of skin tumors regardless of pigmentation, their role as genetic modifiers in ocular diseases remains...
Background/Objectives: Plant mitochondrial genomes are structurally dynamic, and assembled paths may not reflect all molecular configurations. We characterized the mitochondrial genome of Rhododendron spinuliferum and evaluated repeat-associated stru...
Background: Cultivar identification and the reconstruction of breeding relationships require markers that reflect both parents, yet plastome sequencing is often applied to these problems on its own. Methods: We tested how far chloroplast data alone c...
Background/Objectives: Invasive species can disrupt native predator–prey interactions, and toxic invasive prey may pose particular threats to native predators. The cane toad (Rhinella marina) secretes cardiotonic steroids (CTSs) that can cause...
Menke–Hennekam syndrome (MKHK) is a rare neurodevelopmental disorder caused by pathogenic variants in discrete regions of the transcriptional coactivators CBP and p300, encoded by CREBBP and EP300. Recent genotype–phenotype and DNA methyl...
Genetic and molecular studies increasingly explain anesthetic and analgesic responses at the level of defined conductances, neuronal populations, and injury states. Their clinical implications depend on distinguishing target engagement from changes i...
Background: 1q21.1 copy number variations (CNVs) are recurrent rearrangements with a clinical spectrum, from neurodevelopmental disorders and congenital anomalies to apparently unaffected carrier status, reflecting incomplete penetrance and variable...
Background/Objectives: Freshwater mussels (Bivalvia: Unionida) are among the most endangered faunal groups. This study examines the genetic diversity of Unio crassus, a species critically endangered in Europe. Methods: Using novel (nadh3-tRNA-nadh2)...
Background/Objectives: Lumbar spinal stenosis (LSS) has a substantial inherited component, but the cellular contexts in which genetic susceptibility acts remain incompletely resolved. We integrated large-scale human genetics with a donor-resolved spi...
Background: Athletic performance is a result of interaction between genetic and environmental factors, including training, nutrition, rest, hormonal and psychophysiological status. Numerous genes and polymorphisms can influence key physiological proc...
Background: Growth hormone (GH) stimulation tests have limited diagnostic precision in childhood short stature (SS), and the relationships among endocrine phenotype, GH1 variation, and long-term treatment response remain unclear. We examined the clin...
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