A Human Omentum-Specific Intermesothelial Fibroblast Population Inhibits Adipogenesis by Secreting IGFBP2 Background and Research Objective With the growing prevalence of obesity and metabolic diseases, the plasticity and heterogeneity of adipose tissue have become research hotspots. Different regions of adipose tissue exhibit distinct metabolic ch...
The New Protein Cytb-187aa Regulates Mammalian Early Development Academic Background Mitochondria are multifunctional organelles that provide energy for cells. In addition to energy supply, they are involved in the regulation of apoptosis, cell signaling, and various biosynthetic pathways. Among these functions, substances within mitochondria can b...
Clinical, Histopathological, and Genetic Characterization: Insights from Myofibrillar and Distal Myopathies Patients in the Italian Network Background and Research Motivation Myofibrillar Myopathies (MFM) and Distal Myopathies (DM) are a group of rare diseases with complex pathological presentations. The diagnosis process is extremely complicated d...
Genetic Association Study of ALS Reversal Phenotype Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by the death of upper and lower motor neurons, progressive weakness, and eventual respiratory failure. However, individual ALS patients have exhibited unusual clinical reversal phenomena, where symptoms signific...
Comprehensive Overview of Mutations in Neurofibromatosis Type 1 Among Iranian Patients Neurofibromatosis type 1 (NF1) is a hereditary disease caused by mutations in the NF1 gene, characterized by almost complete penetrance and high phenotypic variability. This study aims to identify NF1 mutations in Iranian patients using whole-genome exome sequenc...
Gene Variants and Altered Blood mRNA Levels as Risk Factors for Post-Stroke Cognitive Impairment in Indians Research Background Cognitive impairment is a common clinical outcome after stroke, occurring in about 30% of stroke survivors. Research has shown that Brain-Derived Neurotrophic Factor (BDNF) plays an important role in this process, and BDNF...
A New Differential Diagnosis Method Based on miRNA Background Introduction Neuromuscular Disorders (NMDs) are a class of chronic diseases that consistently progress to muscle atrophy. Although certain diseases such as Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (BMD), Congenital Muscular Dystrophy (CMD), Limb-Girdle Muscular Dystro...
A Study Exploring a New Mutation in Early-Onset Alzheimer’s Disease Alzheimer’s Disease (AD) is a common neurodegenerative disorder, accounting for 60-70% of all dementia cases. In recent years, with global population aging and environmental changes, the incidence of AD has been increasing annually. It is predicted that by 2050, the number of patie...
Preliminary Research Report on the Relationship between CYP46A1 Polymorphism and Suicide Risk Research Background Suicide, defined as the intentional act of ending one’s own life, is a major global public health issue. The incidence of suicide is higher among individuals with Major Depressive Disorder (MDD). However, the role of cholesterol in suic...
Association of NID2 gene single nucleotide polymorphisms with glioma risk and prognosis in Chinese Han population Academic Background Glioma is the most common primary intracranial tumor, characterized by high mortality and poor prognosis. Despite some progress in diagnostic and treatment strategies, conventional therapies have limited improvement ...