Structural Variant Allelic Heterogeneity in MECP2 Duplication Syndrome Provides Insight into Clinical Severity and Variability of Disease Expression

Study of Structural Variation in MECP2 Duplication Syndrome and Its Phenotypic Variability Academic Background MECP2 Duplication Syndrome (MRXSL) is an X-linked genomic disorder primarily caused by an increase in the copy number of the MECP2 gene on the X chromosome. This condition predominantly affects males, and its clinical features vary widely,...

Epigenome-Wide Association Studies Identify Novel DNA Methylation Sites Associated with PTSD: A Meta-Analysis of 23 Military and Civilian Cohorts

Epigenome-wide DNA Methylation Study Highlights PTSD-Associated Sites: A Meta-Analysis Across 23 Military and Civilian Cohorts Background and Research Objectives Post-Traumatic Stress Disorder (PTSD) is a serious psychiatric condition triggered by exposure to traumatic events. It is characterized by intrusive memories, avoidance or emotional numbne...

Patterns of Genomic Instability in Ovarian Cancer Patients

Background and Research Question Ovarian cancer, as a fatal gynecological malignancy, has become the focus of recent studies, particularly on expanding the feasibility of targeted therapies. The introduction of poly(ADP-ribose) polymerase (PARP) inhibitors has marked a groundbreaking treatment option for ovarian cancer, especially for patients with...

Revisiting Mutational Resistance to Ampicillin and Cefotaxime in Haemophilus influenzae

Revisiting Mutational Resistance to Ampicillin and Cefotaxime in Haemophilus influenzae Background and Motivation for the Study Haemophilus influenzae is an opportunistic bacterial pathogen that can cause severe respiratory tract infections and invasive infections such as septicemia and meningitis, particularly in infants, the elderly, and immunoco...

Integrated Analyses of Multi-Omic Data Reveal Metabolic Vulnerability as a Novel Therapeutic Target in Lung Cancer Brain Metastases

Report on the Multi-Omics Study of Lung Cancer Brain Metastases (LC-BMs) Academic Background Lung cancer is one of the most prevalent and deadly cancers worldwide. Lung cancer brain metastases (LC-BMs) are a common complication in patients with lung cancer and are associated with poor prognosis. Despite advances in lung cancer therapies, the standa...

CD30 Influences Germinal Center B-Cell Dynamics and the Expansion of IgG1-Switched B Cells

The Impact of CD30 on Germinal Center B Cell Dynamics and the Expansion of IgG1-Switched B Cells Background CD30 (also known as TNFRSF8) is a member of the tumor necrosis factor receptor (TNF-R) superfamily. Initially identified as a marker of Hodgkin lymphoma, subsequent research revealed its expression on other lymphomas, such as diffuse large B-...

Critical and Differential Roles of eIF4A1 and eIF4A2 in B-cell Development and Function

Critical and Differential Roles of eIF4A1 and eIF4A2 in B-Cell Development and Function Academic Background In mammalian cells, translation initiation is a crucial step in protein synthesis, where the eukaryotic initiation factor 4A (eIF4A) plays a pivotal role. eIF4A is an ATP-dependent RNA helicase that unwinds secondary structures in the 5’ untr...

Mapping In Silico Genetic Networks of the KMT2D Tumour Suppressor Gene to Uncover Novel Functional Associations and Cancer Cell Vulnerabilities

Academic Background and Problem Statement Loss-of-Function (LOF) mutations in Tumor Suppressor Genes (TSGs) are prevalent in cancer. However, therapeutic strategies directly targeting these mutations are challenging due to the loss or reduction of encoded protein function, which in normal states plays a role in inhibiting aberrant cell proliferatio...

Ubiquitin Regulatory X (UBX) Domain-Containing Protein 6 is Essential for Autophagy Induction and Inflammation Control in Macrophages

Critical Role of UBXN6 in Autophagy Induction and Inflammation Control in Macrophages Background The innate immune system serves as the first line of defense against pathogen invasion and inflammatory responses. Monocytes and macrophages, as key cell types in the innate immune system, play critical roles during infection and inflammation. However, ...

Alternative mRNA Polyadenylation Regulates Macrophage Hyperactivation via the Autophagy Pathway

NUDT21 Regulates Macrophage Hyperactivation via the Autophagy Pathway Academic Background The inflammatory response is a critical component of the body’s immune defense, facilitating pathogen clearance and tissue repair. However, dysregulation of the inflammatory response can lead to chronic inflammatory diseases such as inflammatory bowel disease ...