A Bimodal Taxonomy of Adult Human Brain Sulcal Morphology Related to Timing of Fetal Sulcation and Trans-Sulcal Gene Expression Gradients

A Bimodal Taxonomy of Adult Human Brain Sulcal Morphology Related to Timing of Fetal Sulcation and Trans-Sulcal Gene Expression Gradients

Research Background and Objectives This study focuses on the complex morphological features of the adult cerebral cortex sulci, specifically the classification of linear and complex morphologies of brain sulci and their developmental mechanisms. The sulci are groove structures on the surface of the cerebral cortex, corresponding to different geneti...

Ferroptosis Triggered by Spliceosomal GTPase EFTUD2 Deficiency Leads to Purkinje Cell Degeneration

Depletion of EFTUD2 Triggers Ferroptosis-Induced Degeneration of Cerebellar Purkinje Cells Background and Motivation The cerebellum plays a crucial role in motor coordination and higher cognitive functions, with the health of cerebellar Purkinje cells (PCs) being essential for maintaining cerebellar function. Gene regulation based on alternative sp...

Disruption of Nuclear Speckle Integrity Dysregulates RNA Splicing in C9orf72-FTD/ALS

Disruption of Nucleolar Integrity and Dysregulation of RNA Splicing in C9orf72-FTD/ALS Background and Research Motivation The hexanucleotide repeat expansion (GGGGCC)n in the C9orf72 gene is the most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Studies have shown that these repeat sequences not only...

Antisense Oligonucleotides Enhance SLC20A2 Expression and Suppress Brain Calcification in a Humanized Mouse Model

Antisense Oligonucleotides Enhance SLC20A2 Expression and Suppress Brain Calcification in a Humanized Mouse Model

Antisense Oligonucleotide Enhances SLC20A2 Expression and Inhibits Brain Calcification in Humanized Mouse Models Background and Research Questions Primary Familial Brain Calcification (PFBC) is an age-related neurogenetic disorder, characterized by bilateral calcifications in brain regions such as the basal ganglia, thalamus, and cerebellum. PFBC p...

Multi-Omic Mapping of Human Pancreatic Islet Endoplasmic Reticulum and Cytokine Stress Responses Provides Genetic Insights into Type 2 Diabetes

Background and Research Motivation Globally, Type 2 Diabetes (T2D) is a common metabolic disease characterized by the combined effects of genetic and environmental factors leading to dysfunction and/or cell death of pancreatic β-cells, resulting in insufficient insulin secretion. Based on findings from Genome-Wide Association Studies (GWAS), over 6...

Serine and Glycine Physiology Reversibly Modulate Retinal and Peripheral Nerve Function

Reversible Regulation of Retinal and Peripheral Nerve Function: Physiological Study of Serine and Glycine Background and Research Motivation Macular Telangiectasia Type 2 (Mactel) is an age-related retinal disease characterized by central vision loss. The molecular etiology of this disease is complex and is primarily associated with the metabolism ...

Integrated Electrophysiological and Genomic Profiles of Single Cells Reveal Spiking Tumor Cells in Human Glioma

Integration of Electrophysiological and Genomic Analysis Reveals Tumor Cells Capable of Generating Action Potentials in Human Gliomas Background and Research Objectives Gliomas are the most common malignant tumors in the central nervous system, with approximately 20,000 new cases annually. These tumors include two subtypes: isocitrate dehydrogenase...

Distinct Clinical Outcomes and Biological Features of Specific KRAS Mutants in Human Pancreatic Cancer

Clinical Outcomes and Biological Characteristics Study Report for Pancreatic Cancer Patients with KRAS Mutations Research Background and Objective Pancreatic Ductal Adenocarcinoma (PDAC) is predicted to become the second leading cause of cancer death by 2030. Only about 20% of PDAC patients are eligible for resection surgery, thus the five-year sur...

GABAergic Neuronal Lineage Development Determines Clinically Actionable Targets in Diffuse Hemispheric Glioma

Background and Research Objectives High-Grade Glioma (HGG) is a highly lethal primary brain tumor with a particularly high incidence and mortality rate in children and adolescents. HGG can be further divided into several subtypes, among which Diffuse Hemispheric Glioma, H3G34-mutant (DHG-H3G34), is a rare subtype with poor prognosis, mainly occurri...

FUS/CircZEB1/miR-128-3p/LBH Feedback Loop Promotes Malignant Phenotype of GSCs via TNF-α Mediated NF-κB Signaling Pathway

The Role of the Novel Circular RNA circZEB1 in the Malignant Phenotype of Glioblastoma Stem Cells and Its Molecular Mechanism Research Background Glioblastoma (GBM) is one of the most aggressive and fatal primary tumors in the central nervous system, with a very poor prognosis for patients. Even with surgery, radiotherapy, and chemotherapy, the ave...