Clinical and Genetic Spectrum Study of Inherited Glycosylphosphatidylinositol Deficiency Disorders (IGDs) Background Introduction The glycosylphosphatidylinositol (GPI) anchoring pathway is crucial for post-translational modification of many important proteins in eukaryotes, which are fundamental for cell signaling and early human neurogenesis and ...
Dysfunctional spectrum associated with clinical phenotype expansion in SCN2A-related disorders This paper was written by scholars including Anne T. Berg, Christopher H. Thompson, Leah Schust Myers, Erica Anderson, Lindsey Evans, Ariela J. E. Kaiser, Katherine Paltell, Amanda N. Nili, Jean-Marc L. Dekeyser, Tatiana V. Abramova, Gerry Nesbitt, Shawn ...
Parkinson’s Disease Variant Detection and Disclosure: Comprehensive Report Background Parkinson’s Disease (PD) is a progressive neurodegenerative disorder primarily characterized by motor dysfunction and non-motor symptoms. Research has shown that at least seven genes (LRRK2, GBA1, PRKN, SNCA, PINK1, PARK7, VPS35) are directly related to the occurr...
Cascading Pattern in Genetic Risk Research for Alzheimer’s Disease Background and Research Motivation Alzheimer’s disease (AD) is a slowly progressing neurodegenerative disorder characterized by the accumulation of two pathological features: amyloid plaques and phosphorylated tau neurofibrillary tangles. These pathological features typically exist ...
Biallelic Variants in SNUPN Cause a Limb-Girdle Muscular Dystrophy with Myofibrillar Features Academic Background Muscular dystrophies are a complex and heterogeneous group of neuromuscular disorders characterized by progressive muscle weakness and atrophy due to loss of muscle fibers. Limb-Girdle Muscular Dystrophies (LGMD) are a subtype primarily...
Transcriptome Dynamics and Cell Dialogue Between Oocytes and Granulosa Cells During Mouse Follicle Development Overview Follicle development and maturation is a complex, multi-stage process. During this process, dynamic gene expression in oocytes and surrounding somatic cells, as well as the dialogue between them, play crucial roles. This study rev...
Comprehensive Single-Cell Multi-Omics Study on HIV Latency Reversal Reveals Novel Regulators of Viral Reactivation This paper, titled “Integrated single-cell multiomic analysis of HIV latency reversal reveals novel regulators of viral reactivation,” was jointly completed by Manickam Ashokkumar, Wenwen Mei, and several other researchers from institu...
Whole-Genome Sequencing Reveals Autopolyploidy and Evolutionary Trajectory of Chinese Sturgeon Background Chinese sturgeon (Acipenser sinensis), as a member of the sturgeon subclass, is an ancient fish group. Due to its unique genome structure and economic value, the conservation and research of Chinese sturgeon are of great significance. Sturgeons...
Benchmarking Gene Set Scoring Tools for Single-Cell ATAC-seq Data Authors: Xi Wang, Qiwei Lian, Haoyu Dong, Shuo Xu, Yaru Su, Xiaohui Wu Affiliations: Pasteurien College (Soochow University Medical College), Department of Automation, Xiamen University, School of Mathematics and Computer Science, Fuzhou University Corresponding Author: xhwu@suda.edu...
Molecular Evolution of Monkeypox Virus Protein Sequences and Codon Usage Research Background The 2022 Monkeypox virus (MPXV) outbreak has caused significant global public health concern. However, the evolutionary mechanisms of MPXV remain not fully understood. MPXV is a linear double-stranded DNA virus belonging to the family Poxviridae, subfamily ...