Global Profiling of Alternative Splicing in Non-Small Cell Lung Cancer Reveals Novel Histological and Population Differences

Medicine, Oncology, Life Sciences, Biochemistry, Genetics,
non-small cell lung cancer   alternative splicing   population differences   tumor biology   biomarkers   molecular subtypes   therapeutic targets  

Global Profiling of Alternative Splicing in Non-Small Cell Lung Cancer Reveals Novel Histological and Population Differences Academic Background Lung cancer is one of the most frequently diagnosed cancers in the United States, with non-small cell lung cancer (NSCLC) accounting for the majority of cases. Among NSCLC, lung adenocarcinoma (LUAD) and l...

PRMT5-Regulated Splicing of DNA Repair Genes Drives Chemoresistance in Breast Cancer Stem Cells

Medicine, Oncology, Life Sciences, Cell Biology, Biochemistry, Genetics,
Breast Cancer Stem Cells   Chemoresistance   PRMT5   DNA Repair   Splicing Regulation   Homologous Recombination   Fanconi Anemia Pathway  

PRMT5-Regulated Splicing of DNA Repair Genes Drives Chemoresistance in Breast Cancer Stem Cells Academic Background Breast Cancer Stem Cells (BCSCs) are a rare subpopulation of cells within breast cancer that possess the ability to self-renew, initiate tumors, and metastasize. Despite their critical role in tumor initiation and progression, the mec...

Identification of Novel Germline Mutations in FUT7 and EXT1 Linked with Hereditary Multiple Exostoses

Medicine, Orthopedics, Oncology, Life Sciences, Genetics,
Hereditary Multiple Exostoses   FUT7   EXT1   germline mutations   chondrodysplasia   IL6/STAT3/Slug axis   ubiquitination degradation  

Novel Germline Mutations in FUT7 and EXT1 Linked to Hereditary Multiple Exostoses Background Hereditary Multiple Exostoses (HME), also known as Hereditary Multiple Osteochondromas (HMO), is an autosomal dominant skeletal disorder characterized by the development of multiple cartilage-capped bone projections (osteochondromas). These osteochondromas ...

Spatial Transcriptome Profiling Identifies DTX3L and BST2 as Key Biomarkers in Esophageal Squamous Cell Carcinoma Tumorigenesis

Medicine, Oncology, Life Sciences, Cell Biology, Biochemistry, Immunology, Genetics,
Esophageal squamous cell carcinoma   Tumorigenesis   Spatial transcriptome   Single-cell transcriptome   Tumor-associated macrophage   Polarization   Spatial biomarker   Functional studies  

Digital Spatial Transcriptomics Highlights DTX3L and BST2 as Crucial Biomarkers in Esophageal Squamous Cell Carcinoma Tumorigenesis Background and Research Question Esophageal cancer (EC) remains a globally prevalent malignant disease with high incidence and mortality rates. Esophageal squamous cell carcinoma (ESCC), the most common histological su...

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

Medicine, Neurology, Life Sciences, Cell Biology, Biochemistry, Genetics,
MECP2 duplication syndrome   structural variant   allelic heterogeneity   clinical severity   disease expression   genomic rearrangement   phenotypic traits  

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

Medicine, Psychiatry, Life Sciences, Biochemistry, Genetics,
PTSD   DNA methylation   post-traumatic stress disorder   epigenetics   gene expression   meta-analysis   genome-wide association studies  

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...