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...
Objectives: The aroma profile is a key determinant of fruit quality. Methods: In this study, mature ‘Summer Black’ grape berries were collected from 36 major producing areas in southern China to evaluate regional differences in fruit qual...
Objectives: This study aimed to characterize the types and frequencies of sex chromosome aneuploidies (SCAs) detected through invasive prenatal testing, evaluate the concordance between non-invasive prenatal testing (NIPT) and confirmatory diagnostic...
Background: Experimental autoimmune thyroiditis is an important animal model for studying Hashimoto’s thyroiditis. Our aim was to develop the model using CBA/J-DR3 mice expressing human HLA-DR3, which is associated with autoimmune thyroiditis i...
Background/Objectives: Serratia liquefaciens is a bacterium commonly found in the rhizosphere and may possess PGPR capabilities. The present study aimed to elucidate the genomic, phylogenomic, and metabolic characteristics of S. liquefaciens strain U...
Background/Objectives: Combining ability (CA) analysis is a key tool in maize breeding for developing superior hybrids by evaluating parental genetic potential through general combining ability (GCA) and specific combining ability (SCA). Despite its...
Background: Hemiboea yongfuensis is a recently discovered critically endangered species. It is exclusive to the limestone regions of Yongfu County, Guilin, Guangxi. Currently, there is a lack of mitogenome data for Hemiboea species, hindering the pot...
Background: Isotomidae is one of the most common Collembola families, comprising 1484 species belonging to four subfamilies: Isotominae, Proisotominae, Anurophorinae, and Pachyotominae, while the subfamilial classification remains contentious, largel...
Background: Smith–Lemli–Opitz syndrome (SLOS) is an inborn error of cholesterol biosynthesis, caused by biallelic mutations in the DHCR7 gene. Genotype–phenotype correlations regarding DHCR7 variants could explain the variation in s...
Background: Rice is one of the world’s main staple crops, and improving its productivity and resilience is important to achieving food security under varying climatic conditions. Objectives: This systematic review synthesizes the existing evide...
Background: Complex neurodevelopmental disorders frequently reflect multiple neurologic symptoms which have shared molecular and network level mechanisms. Advances in genomic medicine have redefined these conditions as overlapping manifestations of b...
Background: Sheep (Ovis aries) tail fat serves as a crucial energy reserve for adapting to harsh environments. However, excessive deposition can reduce farming efficiency and product quality. Elucidating the regulatory mechanisms of tail fat depositi...
Background/Objectives: Variation in repeatome composition is a major determinant of genome architecture and an important substrate for evolutionary change in plants. Despite the availability of genomic sequence data, repeatome-wide assessments have n...
Background: Cultivated strawberry (Fragaria × ananassa) is one of the most valuable horticultural crops worldwide. Nevertheless, its productivity is increasingly constrained by high susceptibility to adverse environmental conditions, which are...
Background/Objectives: Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy is an extremely rare autosomal recessive disorder caused by inborn errors of immunity. It is due to a loss-of-function mutation in the AIRE autoimmune regu...
Background/Objectives: The RNA-binding protein CELF1 is crucial for cardiac development, but its role in cardiomyocyte hypertrophy is unclear. This study investigates the effects of acute CELF1 knockdown on alternative splicing and hypertrophic growt...
Background/Objectives: Consanguine families are helpful to identify recessive candidate genes for inherited diseases, but can also show an unusual inheritance pattern of pathogenic mutations. In this case series, we demonstrate this in five consangui...
Background/Objectives: Angelman syndrome is a neurodevelopmental disorder resulting from a deficiency of the maternally inherited UBE3A gene. In mature neurons, UBE3A expression is restricted to the maternal allele due to tissue-specific genomic impr...
Background: Physical activity (PA) and weight regulation are influenced by both genetic and lifestyle factors. This study aimed to evaluate the predictive value of Polygenic Risk Scores (PRSs) for PA and weight outcomes, and their interaction with di...
Background/Objectives: MYH9 gene variants cause MYH9-related disease (MYH9-RD), which is also known as Epstein syndrome, Fechtner syndrome, May–Hegglin anomaly, and Sebastian syndrome. MYH9-RD is characterized by sensorineural hearing loss, mac...
Non-muscle-invasive bladder cancer (NMIBC) accounts for approximately 70% of newly diagnosed bladder cancer cases but exhibits significant clinical heterogeneity in treatment response and progression risk. While intravesical bacillus Calmette–G...
Background: Fragile X Syndrome (FXS) is an X-linked neurodevelopmental disorder characterised by intellectual disability, developmental delays, anxiety, and social and behavioural challenges. Currently, no effective treatments exist to address the ro...
The increasing and global distribution of microplastics and nanoplastics (MPs/NPs) in the environment has led to concern about their potential influence on human health, especially on the gastrointestinal tract, as well as the brain. MPs/NPs could tr...
Background/Objectives: Cancer patients are highly susceptible to infectious diseases due to malignancy- and treatment-induced immunosuppression. The coronavirus disease 2019 (COVID-19) pandemic highlighted this vulnerability, particularly in aggressi...
Background/Objectives: The Fagopyrum dibotrys complex is a specialized high-altitude lineage in southwestern China with medicinal and breeding potential, but species delimitation remains unresolved. Methods: We sequenced 26 complete chloroplast genom...
Background/objectives: Knowledge of the genetic background of evaluated traits has been the basis for genetic progress in every horse-breeding population and is essential for precise breeding and up-to-date decision-making. The study aimed to estimat...
Background/Objectives: Soil salinization and alkalization critically limit global agricultural production. This study aimed to investigate the differential response mechanisms of rapeseed (Brassica napus L.) varieties to saline and alkaline stresses...
Body fluid identification at crime scenes is the first step in the forensic biology workflow, leading to the identification of the perpetrator and/or, in some cases, the victim. Current methods that are regularly used in forensic criminal evidence an...
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