Objectives: This study aims to provide a theoretical basis for a deeper understanding of the transcriptional regulatory network underlying the formation of Primula forbesii floral scent, and also offers important genetic resources for the molecular i...
Background: Ovarian cancer (OC) exhibits substantial tumor heterogeneity and an immunosuppressive tumor microenvironment (TME), both contributing to its unfavorable clinical outcomes. Recent studies have increasingly demonstrated that dysregulated gl...
Background: Colorectal cancer (CRC) remains a heterogeneous disease, and improved biomarkers are needed to support prognostic assessment. This study aimed to characterize hub genes in CRC and evaluate whether a gene signature provides biologically me...
Background: Inter-species hybridization has been extensively used in breeding cervids to improve productive traits by hybrid vigor, but the genomic processes behind the process are not well studied. Methods: In this study, we investigated restriction...
Cancer is one of the leading causes of mortality and morbidity worldwide. Various studies have highlighted the involvement of microRNAs (miRNAs) in tumor initiation and progression. MiRNAs are endogenous, non-coding, single-stranded RNA molecules tha...
Rare genetic diseases are heterogeneous across mechanisms, trajectories, and treatment responses. To date, approved therapies remain available for only a small proportion of rare genetic diseases. Oligonucleotide-based RNA therapeutics, particularly...
Background/Objectives: Atherosclerotic plaque instability is driven by complex interactions among inflammatory, structural, and cellular remodeling programs. While bulk RNA sequencing provides insight into tissue-level transcriptional states and sing...
Background/Objectives: Closely related species provide an opportunity to study evolutionary processes that underpin new species formation. Speciation driven by adaptation to distinct environments, such as adaptation to high and low elevation in Senec...
Clinical genomics has traditionally focused on protein-coding variation, yet many pathogenic mechanisms arise through alterations in RNA processing, stability, localisation, translation, and surveillance. Prior reviews have addressed individual RNA l...
Strictosidine synthases (STRs) are catalytic enzymes involved in terpenoid indole alkaloid biosynthesis, whereas STR-like (STRL) genes in cereal crops remain poorly understood. Previous studies of the maize STR-like (STRL) gene family have mainly pro...
Introduction:Despite the recognized association between age-related hearing loss (ARHL) and Alzheimer’s disease (AD), the genetic relationship and shared transcriptional mechanisms between them remain largely unexplored. Methods: We systematica...
Background:Pectobacterium brasiliense-mediated soft rot severely threatens the production of diverse cash crops worldwide and brings severe yield reduction risks. A virulent strain BS1113 was separated from diseased cigar tobacco plants collected in...
Background/Objectives: Bulk RNA sequencing (RNA-seq) averages signals across heterogeneous cell populations. Computational deconvolution methods aim to infer cell type composition and cell type-specific gene expression from bulk data, but their perfo...
Background: False-positive variant calls generated within low-complexity regions (LCRs) remain a persistent bottleneck in clinical genomics, complicating downstream analysis. This study evaluates a targeted spatial masking strategy designed to suppre...
Background: Gastric adenocarcinomas constitute a histologically and genomically heterogeneous group of cancers. The genomic classification of gastric cancers in four groups by The Cancer Genome Atlas (TCGA) has defined a framework for pathogenic disc...
Objectives: Within the framework of the European Union’s Submeasure 10.2 for the conservation and sustainable use and development of genetic resources in agriculture, this study aimed to genetically characterize specific apple (Malus domestica...
Heritable thoracic aortic diseases (HTADs) comprise a genetically heterogeneous group of disorders predisposing patients to thoracic aortic aneurysm and dissection, yet current medical therapies remain limited to slowing disease progression rather th...
Background: Primary ciliary dyskinesia (PCD) is a rare and genetically heterogeneous disorder that remains underdiagnosed in low- and middle-income countries, largely due to limited access to specialized diagnostic tests. Genetic analysis has become...
Background: Coronary artery disease (CAD) remains a major cause of morbidity and mortality worldwide. Variants in the lipid metabolism gene SCARB1 may influence CAD susceptibility, but existing evidence is inconsistent. Methods: We systematically sea...
Background/Objectives: Genome-Wide Association Studies (GWASs) have revealed numerous Single Nucleotide Polymorphisms (SNPs) linked to diverse diseases and traits, highlighting extensive pleiotropy. This study aimed to identify functionally relevant...
Background: PURA-related neurodevelopmental disorder (PURA-NDD; OMIM #616158) is a rare autosomal dominant condition caused by pathogenic variants in the PURA gene encoding Purα, a multifunctional protein involved in DNA replication, trans...
Background: Mutations in the FBXO7 gene (PARK15) cause an autosomal recessive, early-onset neurodegenerative disorder typically presenting as Parkinsonian-Pyramidal Syndrome (PPS). Despite its recognition, the high phenotypic variability often delays...
Cytogenomics, including karyotyping, FISH, chromosomal microarrays, and optical genome mapping, has yielded significant results for clinical phenotypes in constitutional and cancer genetics, including intellectual disability, autism spectrum disorder...
Background: Arthrogryposis consists of a heterogeneous group of congenital disorders characterized by multiple joint contractures. Distal arthrogryposes (DAs) are often caused by pathogenic variants in fast-twitch muscle protein genes, including MYH3...
Background/Objectives: Soil salinization constitutes a critical threat to global agriculture, with cotton (Gossypium spp.) being highly susceptible. This abiotic stress most severely impacts cotton during the early sowing and seedling stages, comprom...
Background: Discoidin domain receptor 1 (DDR1) is a collagen-activated receptor tyrosine kinase that plays an important role in epithelial cell regulation; its function in cancer appears to be dependent on tumour type. Methods: This study investigate...
Background/Objectives: Hepatocellular carcinoma (HCC) arises through heterogeneous pathways involving chronic hepatitis B virus infection, hepatitis C virus infection, alcohol-related liver disease, metabolic dysfunction-associated steatotic liver di...
Background: Adult-onset recessive cerebellar ataxias remain frequently unresolved after next-generation sequencing, partly because phenotype-driven filtering can deprioritize biallelic variants in genes historically associated with severe pediatric m...
Background/Objectives: Patient registries are essential for rare disease research, yet the extensive genetic and phenotypic heterogeneity of primary mitochondrial diseases (PMDs) makes traditional registry development slow and resource-intensive. We...
Background/Objectives: Cytokinin and auxin are essential for vascular development in plants. This study aims to explore whether these two hormones exhibit crosstalk in the cambium, analogous to that observed in the apical meristem. Methods: Using the...
Background/Objectives: Aphids are among the most economically damaging agricultural pests globally. However, the internal phylogeny of their largest subfamily, Aphidinae, remains contentious, particularly regarding intergeneric relationships, tribal...
Circulating tumor DNA (ctDNA) was initially conceived as a minimally invasive surrogate for interrogating cancer biology; however, three decades of evidence have demonstrated that plasma is not a passive reservoir of tumor-derived material, but rathe...
Background: Safflower (Carthamus tinctorius L.) is a high-value economic crop with broad applications in agriculture, industry, and traditional medicine. Seed germination and seedling establishment are critical stages in the safflower life cycle, as...
Background/Objectives: Outcomes after CD19-directed chimeric antigen receptor (CAR) T-cell therapy for relapsed or refractory (R/R) aggressive large B-cell lymphoma (aLBCL) remain heterogeneous. Tumor genomic biomarkers, such as TP53 alteration, MYC/...
Background: Sepsis-induced cardiomyopathy (SICM) is a life-threatening complication driven by inflammatory cascades. Current genetic studies are restricted to single-trait analyses that cannot capture the shared genetic architecture spanning from imm...
Genetic recombination occurs in many organisms, from simple RNA viruses to mammals and plants with DNA genomes. In sexual reproduction, two parental genomes come together and undergo recombination, producing an offspring genome with a combination of...
Background: The phylogenetic placement of the rheophilic glyptosternoid catfish Chimarrichthys kishinouyei within Sisoridae remains insufficiently resolved because mitogenome-derived phylogenetic evidence has been unavailable. Methods: We sequenced,...
Emerging evidence shows long non-coding RNAs (lncRNAs) as critical regulators of osteoarthritis (OA) progression, often acting in complex networks with microRNAs (miRNAs). In our study, we investigated the potential regulatory function of the lncRNA...
Background: Minimal change disease (MCD) is a leading cause of childhood nephrotic syndrome. Endoplasmic reticulum stress (ERS) and autophagy are implicated in its pathogenesis, but the precise mechanisms remain unclear. This study aimed to identify...
Celocentesis represents a novel form of invasive pregnancy test that allows the genetic material of the embryo to be tested during the embryonic stage at 6–9 weeks of gestation. The purpose of this narrative review is to present the latest avai...
Recent advances in single-cell RNA sequencing (scRNA-seq) have transformed neuroscience research by enabling the identification of genes, cell types, and molecular pathways involved in brain development and function. However, scRNA-seq lacks spatial...
Background: High body mass index (BMI) is a causal risk factor for endometrial cancer, but the tumor molecular mechanisms affected by adiposity remain poorly understood. Here, we characterize the tumor multi-omic landscape of endometrial cancers that...
Cystic fibrosis (CF) is an autosomal recessive disorder caused by pathogenic variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It is increasingly understood through a genomics-informed framework linking variant architec...
Background: Malus sieversii, the wild ancestor of cultivated apples, possesses high stress tolerance and rich nutritional value but suffers from low fruit firmness. Jasmonate-ZIM (JAZ) domain proteins are key repressors of jasmonic acid (JA) signalin...
Background/Objectives: The common quail (Coturnix coturnix) is a game species facing conservation challenges, particularly hybridization with the Japanese quail (Coturnix japonica). To address this issue, one proposed measure is the urgent prohibitio...
Multiple endocrine neoplasia (MEN) syndromes are rare hereditary disorders characterized by the development of multiple endocrine and non-endocrine tumours with variable penetrance and age-dependent expression. Although uncommon, these syndromes are...
Background/Objectives: The DPYD gene encodes the enzyme dihydropyrimidine dehydrogenase that metabolizes fluoropyrimidines. Genetic variants in DPYD have been associated with altered enzyme activity; therefore, accurate detection and interpretation i...
Background/Objectives: The Y chromosome plays a crucial role in male fertility, sex determination, and spermatogenesis, yet it remains poorly characterized in Mediterranean river buffalo (Bubalus bubalis, 2n = 50) because of its high repeat content,...
Background: Metastasis and poor chemotherapy response have stagnated therapeutic progress in osteosarcoma (OS) for the past three decades. Defining the transition from localized to metastatic OS before overt dissemination is fundamental for improving...
Background/Objectives: Rheumatoid arthritis (RA) is a chronic inflammatory autoimmune disease in which senescence-associated secretory phenotype (SASP)-related transcriptional programs may contribute to synovial inflammation and fibroblast activation...
