Genes, Volume 17, Issue 9

Population genetics and molecular anthropology have undergone remarkable methodological and conceptual development over the past two decades [...]

Radiation-induced normal tissue toxicity remains one of the most significant barriers to the safe and effective use of radiation in cancer therapy [...]

Background/Objectives: Accurate prediction of complex traits from high-dimensional genomic markers remains difficult in plant breeding. Linear models have limited capacity for non-linear interactions, and many deep learning models scale poorly on lon...

Background/Objectives: Oral Xuesaitong soft capsules have been reported to improve functional outcomes after ischemic stroke, but their molecular mediators remain uncertain. We evaluated human genetic support for pharmacology-informed Panax notoginse...

Background/Objectives: Appendicular lean mass (ALM), alanine aminotransferase (ALT), and type 2 diabetes (T2D) may be genetically linked. However, the ALT-related pathway and shared signals at the SERPINA1 candidate locus remain uncertain. We used Me...

Background/Objectives: The monotypic genus Araiocypris is currently classified in Xenocyprididae, yet its familial placement has long been controversial and lacks sufficient molecular phylogenetic support. Mitogenomic resources for the family Tanicht...

Background: Ocular coloboma is a congenital eye defect with high genetic heterogeneity. This study investigated a four-generation pedigree to identify candidate variants underlying autosomal dominant iris and chorioretinal coloboma. Methods: Whole-ex...

Background: Kinesins are ATP-dependent molecular motors that mediate intracellular transport, cytoskeleton remodeling, and abiotic stress responses in plants. The KIN gene family remains poorly characterized in Prunus mume. This study aimed to explor...

Frontotemporal Dementia and Parkinsonism linked to chromosome 17 (FTDP-17) is a rare, early-onset, autosomal-dominant neurodegenerative tauopathy caused by mutations in the Microtubule-Associated Protein Tau (MAPT) gene. A subset of these mutations s...

Hearing and vision are the most important sensory functions. Genetic studies have revealed that specific genetic mutations can concurrently induce auditory and visual dysfunction. Comorbid auditory and visual impairment limits mutual sensory compensa...

Background/Objects: Knee osteoarthritis (KOA) is characterized by pain and progressive cartilage damage, but the underlying molecular mechanisms remain incompletely understood. This study aimed to identify candidate genes through pain-related screeni...

Background/Objectives: Mitochondrial dysfunction and immune activation are reported across many chronic diseases, yet whether such shared signals are reproducible across independent cohorts is rarely tested. We compared the peripheral blood transcrip...

Background: Hereditary cancer predisposition syndromes show a high risk of cancer development with germline pathogenic variants. Organ-specific surveillance has been recommended according to the causative gene. However, even among carriers of the sam...

Objectives: To evaluate the clinical associations of candidate urinary microRNAs (miRNAs) in patients with upper tract urothelial carcinoma (UTUC), including their ability to discriminate patients with UTUC from healthy controls and their association...

Background: The bHLH transcription factor family plays crucial roles in plant secondary metabolism, yet its genome-wide characterization and regulatory functions in flavonoid biosynthesis remain unexplored in Platycodon grandiflorus, a medicinal spec...

Thyroid eye disease (TED) is an autoimmune inflammatory disorder of the orbit closely associated with thyroid dysfunction. Total thyroidectomy is traditionally expected to attenuate the autoimmune cascade, yet some patients continue to progress after...

Background: Chemically inducible gene expression systems provide precise control over the temporal and spatial expression of genes. They are powerful tools for analyzing gene function during plant development and can effectively avoid the issues asso...

Background: Wuling cattle are a native breed in southern China and primarily inhabit mountainous regions. They are distributed across three geographically distinct mountainous regions and were historically classified into three local populations: Ens...

Background: Polyploidization generates extensive gene redundancy, but how duplicated metabolic genes are retained and subsequently diversified remains poorly understood. UDP-glycosyltransferases (UGTs) provide a suitable system for examining this pro...

Background/Objectives: We compared juvenile whole-stem transcriptomes of Quercus glauca, Quercus acutissima, Quercus fabri, and Castanopsis sclerophylla to examine carbon metabolism and transport. Methods: Three seedlings per species were sampled in...

Background: Prime editing has rapidly evolved from a CRISPR-based “search-and-replace” approach for precise sequence modification into a diverse family of genome editing technologies. This systematic review maps the technological evolutio...

Therapeutic options in renal cell carcinoma (RCC) have expanded rapidly, including adjuvant pembrolizumab, HIF-2α-directed therapy, and multiple effective first-line combinations for metastatic clear-cell RCC (ccRCC), yet treatment selection re...

Lipid metabolism is no longer viewed simply as a source of membrane biomass or ATP. It is now proposed as a regulatory system that determines which metabolites reach the nucleus, which chromatin-modifying enzymes are engaged, and which transcriptiona...

Variants in the filamin C (FLNC) gene are increasingly recognized as causes of cardiac and skeletal muscle disease. Cardiomyopathy-associated FLNC variants span dilated cardiomyopathy (DCM), nondilated left ventricular cardiomyopathy (NDLVC), arrhyth...

High-grade serous carcinoma (HGSC) of tubo-ovarian origin is an aggressive malignancy in need of new treatment options. At the molecular level, HGSC is characterized by genomic instability, including nearly universal TP53 mutations, copy number alter...

Background: Endurance performance reflects integrated cardiorespiratory, metabolic and musculoskeletal traits with substantial heritability, yet sex-balanced studies that simultaneously deep-phenotype athletes and genotype candidate loci against trai...

PLA2G6-associated neurodegeneration (PLAN) is an autosomal recessive neurodegenerative spectrum encompassing infantile, juvenile/atypical and adult-onset phenotypes. Juvenile PLAN may initially resemble autism spectrum disorder or nonspecific develop...

Background/Objectives: The cellular composition and molecular features of the rabbit uterus remain incompletely understood. This study aimed to provide an initial single-cell characterization of the cell populations, transcriptional features, and pre...

Aging and cancer form a biological continuum influenced by epigenomic changes, metabolic dysfunction, inflammation, cellular senescence, and loss of tissue homeostasis. Age-related epigenetic alterations can promote cancer, which exploits plasticity...

Background and Objectives: Autosomal recessive cutis laxa (ARCL) is a genetically heterogeneous group of connective-tissue disorders characterized by loose, inelastic skin and variable systemic involvement. Biallelic variants in PYCR1 are associated...

Background: Lepidium meyenii Walp. (maca) is a plant-derived feed supplement rich in bioactive compounds such as macamides, macaenes, glucosinolates, and polyphenols. In this study, it was selected as a potential natural functional feed additive base...

Background: Donation after circulatory death (DCD) and donation after brain death (DBD) donor lungs are widely used in lung transplantation yet managed as equivalent with respect to ischemia–reperfusion injury (IRI), despite fundamentally diffe...

Background/Objectives: Antimicrobial peptides (AMPs) contribute to plant innate immunity and abiotic-stress adaptation, but their repertoires remain poorly characterized in extremophytic plants. We aimed to define AMP gene families and their expressi...

Background: Pediatric thrombosis (PT) is a rare clinical entity manifesting from neonatal life to adolescence with possibly severe clinical complications and increasing prevalence in the last decade. Its pathogenesis has been attributed to a multitud...

Background: Helicobacter pylori (H. pylori) infection is a well-established risk factor for gastric cancer; however, evidence on the associations between antigen-specific antibody traits, host methylation, and gastric cancer risk remains limited...

Acute myeloid leukemia (AML) is cytogenetically and phenotypically heterogeneous, and this diversity contributes to differences in how patients respond to therapies that target apoptosis. Venetoclax, a selective BCL-2 inhibitor, has been demonstrated...

Mosaic trisomy 14 is a rare chromosomal anomaly with a broad phenotypic spectrum. We report a 10-year-3-month-old girl with severe short stature, developmental delay, and repaired patent ductus arteriosus. An incompletely documented combined insulin&...

Background: Calcineurin B-like (CBL) protein-mediated calcium signaling represents a core regulatory pathway underlying plant abiotic stress adaptation. Ziziphus jujuba var. spinosa (sour jujube) is a perennial woody species with remarkable saline&nd...

Despite decades of clinical validation, glioblastoma (GBM) treatment remains tethered to a dismal 15-to-16-month survival plateau, heavily thwarted by the ys blood–brain barrier (BBB) and profound cellular heterogeneity. While the 2021 World He...

Background/Objectives: Retinoic acid receptor γ (RARγ), encoded by RARG, is increasingly recognized as a cancer-associated regulator through aberrant expression in multiple solid tumors and recurrent gene rearrangements in acute myeloid l...

Background/Objectives: Expanded carrier screening (ECS) panels often rely on pan-ethnic databases, such as the ACMG Tier 3 panel, but their ability to capture population-specific reproductive risk is uncertain. We characterized pathogenic/likely path...

Background/Objectives: Central Asian populations are almost entirely absent from genomic reference resources, yet Uzbekistan has one of the fastest rates of growth in age-standardised type 2 diabetes (T2D) incidence. Allele frequencies at cardiometab...

SCN4A encodes the skeletal-muscle voltage-gated sodium channel NaV1.4. Pathogenic variation in this gene produces fundamentally different disease mechanisms, including dominant alpha-pore gain of function, dominant S4 gating-pore currents, and reduce...

Pharmacogenomics has the potential to improve the safety and efficacy of medicines in Saudi Arabia, and has a strong basis for implementation through population-specific genomic evidence, growing laboratory capacity and national digital health invest...

Objective: To estimate the frequency and potential impact of genetic variants involved in metformin pharmacokinetics, including gastrointestinal absorption, renal elimination, and hepatic transport in the Chilean population. Subjects and methods: The...

Objectives: We tested whether a database-derived phthalate ester (PAE)–ankylosing spondylitis (AS) candidate panel identifies an inflammatory transcriptional program and characterized its transcription-factor (TF) architecture. Methods: Machine...

Background: Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant vascular disorder primarily caused by pathogenic variants in the ENG and ACVRL1 genes. Although genotype–phenotype correlations are well established at the pop...

Ulleungdo Island harbors several endemic plant lineages commonly interpreted as products of anagenetic speciation following long-distance colonization. Yet plastome phylogenies represent a single organellar genealogy and may conflict with nuclear gen...

Background/Objectives: Vesicular trafficking mediates the transport of proteins and other cellular components between intracellular organelles. The MAG2 complex serves as a key tethering factor mediating ER–Golgi retrograde vesicle transport, a...

Background/Objectives: Large language models and automated analytical tools show potential for biomedical text understanding, knowledge integration, and single-cell data interpretation, but interpretations of specific gene regulatory relationships st...