Omics Perspective on Cell Fate Determination Mechanisms Background Introduction During early mammalian embryo development, a totipotent zygote undergoes several cell divisions and two rounds of cell fate determination, ultimately forming a mature blastocyst. In this process, as the embryo compresses, the establishment of apicobasal cell polarity br...
T2T-YAO: Assembly of a Han Chinese Full-length Diploid Reference Genome Scientific Background Since the launch of the Human Genome Project (HGP) thirty years ago, the field of biomedical research has set a long-term goal of constructing a complete and accurate human reference genome. However, due to limitations in sequencing technology, it has long...
Aging-induced trnaGlu-derived fragments disrupt glutamate biosynthesis by targeting mitochondrial translation-dependent cristae organization Academic Background Mitochondrial cristae are inward protrusions of the inner mitochondrial membrane that undergo significant morphological changes during aging. However, the molecular mechanisms leading to th...
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...