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Abstract Myostatin negatively regulates skeletal muscle size in multiple species, and therefore, myostatin blockade has been therapeutically explored to promote muscle growth in humans, including to counter the muscle lo...

Abstract A key factor contributing to the success of Darwin and Wallace’s theory of biological evolution by natural selection was its population-level perspective. This conceptual framework was not immediately adopted,...

Abstract Background Alcohol use disorder (AUD) represents a tremendous societal burden, yet few efficacious therapies are available and widely used. Pre-clinical and human observational data support fibroblast growth fac...

Together with the environment, genetic factors can significantly influence sleep and its architecture. Monozygotic twins have greater similarity in terms of latency and duration of sleep cycles than dizygotic twins, in a...

The coevolution of the human diet and gut microbiome has played a pivotal role in shaping metabolic, immune, and epigenetic functions across human history. Dietary transitions from high-fiber ancestral patterns to modern...

Through the study of human genetic diversity, it can be predicted that complex traits, such as height and obesity, will be demonstrated. With the development of a new design technique using Surface Plasmon Resonance (SPR...

Abstract Background Chromatin condensation, accompanied by pronounced nuclear shrinkage, is a pivotal step in terminal erythroid differentiation and is essential for enucleation. However, the precise timing and molecular...

Abstract Background Head and neck squamous cell carcinoma (HNSCC) is a prevalent and aggressive malignancy with limited prognostic markers. Ubiquitin-specific peptidase 33 (USP33) has emerged as a potential modulator of ...

IntroductionKabuki syndrome (KS) is a rare, complex, multisystem, neurodevelopmental congenital disorder with characteristic phenotypic anomalies and pathogenic genetic variants of the KMT2D or KDM6A genes. KS is highly ...

Abstract Immune system dysregulation is implicated in a wide range of human diseases, including cancer. Genetic studies have shown evidence of a link between immune diseases and cancer; therefore, deficits of immune syst...

BackgroundPrimary ciliary dyskinesia (PCD) management relies on mucociliary clearance to prevent bronchiectasis. While humoral immunodeficiencies have been reported in PCD, their clinical significance remains under-defin...

The escalating global prevalence of antibiotic-resistant Helicobacter pylori strains has undermined conventional eradication therapies, heightening the burden of associated conditions such as gastritis, peptic ulcers and...

Abstract Objective Streptococcus shenyangsis is a recently reported member of the genus Streptococcus, rarely detected in the human oral cavity and for which genomic information remains limited. To broaden our understand...

Abstract Background Reliable identification of protein‑protein interactions (PPIs) is crucial for deciphering cellular functional networks. Current research models still face limitations in aligning heterogeneous featu...

Abstract Background Super-enhancers are critical cis-regulatory elements that play a central role in modulating gene expression and driving cellular identity. Their dysregulation is closely associated with the developmen...

Abstract Background Endothelial cells (ECs) orchestrate vascular homeostasis and resilience but can undergo reprogramming into a mesenchymal-like phenotype through an endothelial-to-mesenchymal transition (EndMT). Crucia...

Human birth weight is under stabilizing selection, seeking balance between extremes of high and low, thereby reducing fetal and maternal perinatal mortality risk. Certain combinations of maternal killer immunoglobulin-li...

Abstract Background The lone star tick, Amblyomma americanum, is a three-host species widely distributed across North America and a vector for multiple human pathogens. Bites from this tick is also associated with alpha-...

Abstract Background Antenatal hydronephrosis (AHN) is a common urological abnormality identified during prenatal ultrasound examination, with heterogeneous underlying causes. This study aimed to investigate the genetic e...

Abstract Background Type 1 diabetes (T1D) is a lifelong autoimmune condition characterised by the progressive immune-mediated destruction of insulin-secreting β-cells within the pancreatic islets, culminating in absolut...

Abstract Background The prevalence and spectrum of PALB2 pathogenic/likely pathogenic variants (PV/LPVs) may vary across different regions, and these have not yet been analysed and reported in Slovenian HBOC families. Me...

Los monos aulladores negros y dorados (Alouatta carayá) son los primates neotropicales con distribución más austral. Actualmente están amenazados por el proceso de perdida y fragmentación de los bosques, provocado p...