Genes, Volume 16, Issue 10

Assisted reproductive technologies (ARTs) have revolutionized infertility treatment, leading to the birth of over 10 million children worldwide. Despite their success, increasing concerns have been expressed regarding the potential long-term outcomes...

Background/Objectives: Plant mitogenomes display remarkable variation in size, structure, and gene content, yet their evolutionary causes remain unclear. Araceae, the most significant family within Alismatales, encompasses both aquatic and terrestria...

Background/Objectives: Herein, we report the clinical cases of two affected first-degree relatives from a family with highly variable macular dystrophy, expanding the known phenotype spectrum with mutations in the thyroid hormone receptor beta gene (...

Background/Objectives: Since its emergence, COVID-19—caused by the novel coronavirus SARS-CoV-2—has affected millions globally and led to over 1.2 million deaths in the United States alone. This global impact, coupled with the emergence o...

Background: Inbreeding is a major genetic problem that reduces fertility and causes genetic disorders. Some breeders of dromedary camels use the same bull for many years due to its excellent characteristics, leading to mating with offspring and subse...

Background/Objectives: GATA transcription factors play pivotal roles in regulating plant growth and development, physiological metabolism, and responses to environmental stress. However, research on GATA genes in sweetpotato remains limited. Methods:...

Background: The family Sperchontidae Thor, 1900 is proposed as a transitional group between the “lower” and “higher” water mites (Subcohort Hydrachnidiae), and is important for understanding the evolutionary history of Hydrach...

Background: Ligusticum chuanxiong Hort. is a well-known traditional Chinese medicinal herb whose clinical application and international trade had been constrained by cadmium (Cd) contamination. However, the molecular mechanisms underlying its respons...

Background: Cryptochromes (CRYs) are not only blue-light receptors in plants but also participate in abiotic stress responses, making them essential for plant growth and development. Methods: In this study, the CRY gene family in potato (StCRY) was i...

Background/Objectives: Lyme disease diagnosis remains challenging due to the limitations of current methods. While PCR-based assays are widely used, their sensitivity can be affected by sample type and the inhibition of host DNA. This study aimed to...

Background: Tibetan sheep (Ovis aries) have evolved remarkable adaptations to the extreme high-altitude environment of the Qinghai–Tibet Plateau. While previous studies have identified some genetic features underlying these adaptations, a compr...

Background: G-quadruplexes (G4s) are non-canonical higher-order nucleic acid structures that form at guanine-rich motifs, with features spanning both secondary and tertiary structural levels. These dynamic structures play pivotal roles in diverse cel...

The global prevalence of infertility has reached critical levels, making it one of the most pressing issues in modern society. Assisted reproductive technologies (ARTs), particularly in vitro fertilization (IVF), are the primary treatment methods for...

Background: Cardiovascular diseases remain a leading cause of death worldwide, yet the prevalence of pathogenic and likely pathogenic genetic variants associated with them is still underassessed in some populations. This study aimed to assess the fre...

Background: SATB2-associated syndrome (SAS), also known as Glass syndrome, is a neurodevelopmental disorder (NDD) characterized by intellectual disability, developmental delay, absent or limited speech, and distinctive craniofacial and dental anomali...

Backgrouds: To explore the differences in semen proteins among rams of three FecB genotypes (++, B+, and BB) in Duolang sheep. Methods:  This study employed DIA quantitative proteomics technology to identify semen proteins from four wild-type (G...

Forensic DNA phenotyping (FDP) is an important innovation approach in forensics sciences, especially when traditional DNA profiling results are limited, mostly due to the absence of reference samples. FDP is based on the detection of genetic variants...

Background: Integrating tropical and temperate maize germplasm represents a pivotal strategy for driving genetic innovation, with phenotypic plasticity serving as a critical indicator of successful integration. Methods: We analyzed 155 inbred lines a...

Background/Objectives: X-linked intellectual disability (XLID) is a highly heterogeneous disorder accounting for ~10% of all males with ID. Next-generation sequencing (NGS) has revolutionized the discovery of causal XLID genes and variants; however,...

Background/Objective: Genome-wide association studies (GWAS) have linked many noncoding variants to complex traits and diseases, but distinguishing as-sociation from causation remains difficult. Deep learning models—particularly CNN- and Transf...

Objectives: The incidence of Fuchs endothelial corneal dystrophy (FECD) is growing, and with it, the unmet need for a corneal transplant. Among alternative treatment modalities, only genetic therapy represents a causal therapy. Methods: Following the...

Human T-cell leukemia virus type 1 (HTLV-1) is the causative agent of adult T-cell leukemia/lymphoma (ATL). The trans-activator protein Tax of HTLV-1 is thought to play a crucial role in the early-stage transformation of the virus-infected cells. Tax...

Background/Objectives: Congenital scoliosis (CS) is a developmental disorder characterized by abnormal vertebral development during embryogenesis. Despite the identification of genes involved in vertebral development, the underlying genetic causes of...

Background: Anchovies (Engraulis encrasicolus L.) are a component of the Mediterranean diet and among the most fished species. Despite Italian consumers showing a strong preference and willingness to pay more for locally caught anchovies, cases of mi...

Background/Objectives: The bacterium Brochothrix campestris is closely related to Brochothrix thermosphacta, a known food spoilage agent, and Listeria monocytogenes, the causative agent of listeriosis. B. campestris garnered attention several years a...

Background/Objectives: Species within section Chrysantha represent the only camellias known to produce golden-yellow petals. The primary objectives of this study were to characterize the chloroplast genome structure of Camellia tianeensis and to eluc...

Background/Objectives: In this study, we conducted molecular identification of R.microplus and explored the genetic diversity of R. microplus for the first time in Mizoram, a Northeastern Hill (NEH) state of India bordering Myanmar. Methods: To asses...

Background/Objectives: Sepiella japonica is a highly adaptable cephalopod with an advanced nervous system and complex reproductive behavior, capable of reproducing two to three generations annually depending on water temperature. However, the absence...

Background: Currently, there are limited therapeutic or preventative strategies for neurodegenerative disorders due to the challenges in alleviating the progressive neuronal loss and neuroinflammation which are the primary characteristics of these di...

Background/Objectives: Liver cirrhosis is a major global health challenge and a key risk factor for hepatocellular carcinoma (HCC), a malignancy with high mortality due to late diagnosis. This study aimed to integrate single-cell RNA sequencing (scRN...

Background/Objectives: Cystoid macular lesion (CML) is a treatable cause of central vision loss in inherited retinal diseases (IRDs). We aimed to determine the frequency of CML in a large Hungarian IRD cohort and examine associations with causative g...

Background/Objectives: High differentiation rates provided by Y-chromosomal short tandem repeats (Y-STRs) are highly advantageous in most forensic and genealogical casework, as they enhance the ability to exclude close or moderately related individua...

Background/Objectives: Induced mutagenesis is vital in genetic enhancement and trait discovery, for genetic analysis and breeding of novel crop varieties with desirable product profiles. Understanding the genetic relationships among newly developed m...

Background: Brown adipose tissue (BAT) is indispensable for producing heat and contributes critically to the survival of neonatal mammals. MicroRNAs (miRNAs) are small noncoding RNAs that serve as key post-transcriptional regulators, playing a crucia...

Background/Objectives: Short inverted repeats (SIRs) are abundant DNA motifs capable of forming secondary structures, such as hairpins and cruciforms, that can induce genome instability. However, their mutational consequences in cancer, particularly...

ROGDI-related neurodevelopmental and dental disorder (ROGDI-RD), also known as Kohlschütter–Tönz syndrome (KTZS, MIM #226750), is a rare condition characterized by developmental abnormalities affecting both the central nervous system...

Fat deposition is an important factor that affects meat production and its quality in livestock animals, including poultry. Non−coding RNAs (ncRNAs) play an important role in duck fat deposition. This study aims to systematically identify key r...

Background: Rubinstein–Taybi syndrome (RSTS) is characterized by intellectual disability, short stature, distinctive facial dysmorphism, broad thumbs/halluces, hearing loss, congenital heart or renal defects, and cryptorchidism in males. Pathog...

Background/Objectives: Morphological defects such as limb malformations, cranial asymmetries, loin deviations, jaw misalignments, and navel irregularities are associated with early culling and reduced productivity in beef cattle. In Bos taurus indicu...

Background/Objectives: Triosephosphate Isomerase (TPI) is a glycolytic enzyme known to be associated with TPI deficiency, a severe form of childhood-onset glycolytic enzymopathy associated with hemolytic anemia, neuromuscular impairment and early dea...

Introduction: Stevia rebaudiana Bertoni has recently gained significant attention due to the presence of intensely sweet yet low-calorie steviol glycosides (SGs) in its leaves, making it a promising natural sugar alternative with applications in the...

Background: Telomeres are nucleoprotein complexes that maintain chromosome integrity in eukaryotes. In insects, the canonical telomeric repeat (TTAGG)n is considered ancestral, though alternative motifs exist across various orders. Neuroptera, compri...

Hemophilia, an X-linked recessive bleeding disorder, results from mutations in the F8 or F9 genes, leading to factor VIII (hemophilia A) or factor IX (hemophilia B) deficiency. While conventional treatment relies on regular factor replacement therapy...

Early B-cell development is primarily regulated at the transcriptional level and comprises the consecutive differentiation stages B-cell progenitor, pro-B-cell and pre-B-cell. These entities provide the cells of origin in B-cell precursor acute lymph...

Objectives: To provide insights for breeding high-quality rice varieties, we analyzed local rice (Oryza sativa L.) germplasm from Yunnan Province, China, focusing on the relationships among Waxy gene alleles, indica–japonica differentiation, an...

Background/Objectives: Parkinson’s disease (PD) is a neurodegenerative disease that develops with age and is related to a decline in motor function. Studies suggest that the causes may be based on genetic dysfunction including PARK gene mutatio...

Germline mutations in the X-linked cohesin subunit gene SMC1A have been increasingly recognized as a cause of developmental and epileptic encephalopathy (DEE); however, the underlying basis of its marked phenotypic heterogeneity remains elusive. In o...

Background: The emergence of the COVID-19 pandemic has accelerated research into diverse immune response mechanisms. One key area of interest is the regulation of cytotoxic activity by Natural Killer (NK) cells. These cells rely on a dynamic interpla...

Background/Objectives: The advent of biologics targeting key inflammatory pathways has significantly advanced psoriasis treatment. Among them, the Interleukin-23 inhibitors Guselkumab and Risankizumab have demonstrated high efficacy and rapid clinica...

Acute Kidney Injury (AKI) is a critical medical condition characterized by a sudden and significant decline in renal function over a short timeframe. Commonly triggered by factors such as sepsis, ischemia–reperfusion injury, or nephrotoxic agen...