A5036355088- CRISPR and Genetic Engineering
- Epigenetics and DNA Methylation
- Catalytic Processes in Materials Science
- Virus-based gene therapy research
- Catalysis and Oxidation Reactions
- Renal and related cancers
- RNA regulation and disease
- Birth, Development, and Health
- Kawasaki Disease and Coronary Complications
- Pluripotent Stem Cells Research
- Genetic Associations and Epidemiology
- Inflammasome and immune disorders
- Chronic Kidney Disease and Diabetes
- Viral Infections and Immunology Research
- Viral Infectious Diseases and Gene Expression in Insects
- Wnt/β-catenin signaling in development and cancer
- Digestive system and related health
- Liver Disease Diagnosis and Treatment
- Advanced biosensing and bioanalysis techniques
- Animal Genetics and Reproduction
- Endometriosis Research and Treatment
- Reproductive Biology and Fertility
- Chemical Looping and Thermochemical Processes
- RNA and protein synthesis mechanisms
- Antibiotics Pharmacokinetics and Efficacy
East China Normal University
2013-2025
Wenzhou Medical University
2024-2025
Second Affiliated Hospital & Yuying Children's Hospital of Wenzhou Medical University
2024-2025
Chongqing Normal University
2024-2025
Northeast Petroleum University
2023-2024
Zigong First People's Hospital
2024
XinHua Hospital
2024
Shanghai Jiao Tong University
2024
Meizhou City People's Hospital
2022-2024
Qingdao University
2022-2023
Genomic structural variants (SVs) are a major source of genetic diversity in humans. Here, through long-read sequencing 945 Han Chinese genomes, we identify 111,288 SVs, including 24.56% unreported variants, many with predicted functional importance. By integrating human population-level phenotypic and multi-omics data as well two humanized mouse models, demonstrate the causal roles SVs: one SV that emerges at common ancestor modern humans, Neanderthals, Denisovans GSDMD for bone mineral...
Research Article10 March 2016Open Access Source DataTransparent process CRISPR/Cas9-mediated somatic correction of a novel coagulator factor IX gene mutation ameliorates hemophilia in mouse Yuting Guan Shanghai Key Laboratory Regulatory Biology, Institute Biomedical Sciences and School Life Sciences, East China Normal University, Shanghai, Search for more papers by this author Yanlin Ma Corresponding Author Hainan Provincial Human Reproductive Medicine Genetic Research, Medical Center, the...
Abstract Epigenetic changes might provide the biological explanation for long-lasting impact of metabolic alterations diabetic kidney disease development. Here we examined cytosine methylation human tubules using Illumina Infinium 450 K arrays from 91 subjects with and without diabetes varying degrees a cross-sectional design. We identify associated structural damage build model function decline. find that levels 65 probes are degree fibrosis at genome wide significance. In total 471 improve...
Genome-wide association studies (GWAS) for kidney function identified hundreds of risk regions; however, the causal variants, target genes, cell types, and disease mechanisms remain poorly understood. Here, we performed transcriptome-wide (TWAS), summary Mendelian randomization, MetaXcan to identify genes whose expression mediates genotype effect on phenotype. Our analyses Dachshund homolog 1 (DACH1), a cell-fate determination factor. GWAS variant was associated with lower DACH1 in human...
Abstract Genome-wide association studies (GWAS) have identified loci for kidney disease, but the causal variants, genes, and pathways remain unknown. Here we identify two disease genes Dipeptidase 1 ( DPEP1 ) Charged Multivesicular Body Protein A CHMP1A via triangulation of function GWAS, human expression, methylation quantitative trait loci. Using single-cell chromatin accessibility genome editing, fine map region that controls expression both genes. Mouse genetic models demonstrate roles...
Genome-wide association studies (GWAS) have identified loci associated with kidney diseases, but the causal variants, genes, and pathways involved remain elusive. Here, we a disease gene called pancreatic progenitor cell differentiation proliferation factor (PPDPF) through integrating GWAS on function multiomic analysis. PPDPF was predominantly expressed in healthy proximal tubules of human mouse kidneys via single-cell Further investigations revealed that functioned as thiol-disulfide...
Abstract The CRISPR-Cas RNA-guided system has versatile uses in many organisms and allows modification of multiple target sites simultaneously. Generating novel genetically modified mouse rat models is one valuable application this system. Through the injection Cas9 protein instead mRNA into embryos, we observed fewer off-target effects increased point mutation knock-in efficiency. Large genomic DNA fragment (up to 95 kb) deletion mice were generated for vivo study lncRNAs gene clusters....
In patients with diabetes mellitus, poor metabolic control has a long-lasting impact on kidney disease development. Epigenetic changes, including cytosine methylation, have been proposed as potential mediators of the effect adverse events. Our understanding presence and contribution methylation changes to development is limited because lack comprehensive base-resolution methylome information human tissue samples site-specific editing. Base resolution, whole-genome bisulfite sequencing maps...
Genomic structural variants (SVs) are a major source of genetic diversity in humans. Although numerous studies explore SV across global populations and their potential impacts, validation using model systems needed to confirm the reported genotype-phenotype associations. Here, through long-read sequencing 945 Han Chinese genomes, we identify 111,288 SVs, including 24.56% unreported variants, many predicted be functionally important. Our analysis unveils multifaceted origins these SVs within...
Peritubular myoid cells (PMCs) are myofibroblast-like that surround the seminiferous tubules and play essential roles in male fertility. How these modulate spermatogenesis signaling pathways involved largely unknown. Here we report Lgr4 is selectively expressed mouse PMCs testes, loss of leads to germ arresting at meiosis I then undergoing apoptosis. In mutant mice, expression androgen receptor, alpha-smooth muscle actin extracellular matrix proteins was dramatically reduced. Malfunctioning...
Abstract The mammalian target of rapamycin (mTOR) signaling pathway integrates environmental cues to regulate cell growth and survival through various mechanisms. However, how mTORC1 responds acute inflammatory signals bowel regeneration is still obscure. In this study, we investigated the role in disease. Inhibition activity by treatment or haploinsufficiency Rheb genetic modification mice impaired intestinal proliferation induced apoptosis, leading high mortality dextran sodium sulfate–...
Cytosine methylation of regulatory regions, such as promoters and enhancers, plays a key role in regulating gene expression, however, its kidney development has not been analyzed.To identify functionally important epigenome-modifying enzymes genome regions where modifications are for development, we performed genome-wide analysis, expression profiling, systematic genetic targeting DNA methyltransferases (Dnmt1, Dnmt3a, Dnmt3b) Ten-eleven translocation methylcytosine hydroxylases (Tet2)...
Luteal-phase insufficiency is one of the major causes female infertility, but molecular mechanisms are still largely unknown. Here we found that disruption Lgr4/Gpr48, newly identified receptor for R-spondins, greatly reduced fertility in mice. The expression Lgr4 was induced specifically granulosa-lutein cells during luteinization. In Lgr4-deficient mice, estrous cycle prolonged and serum progesterone levels were dramatically downregulated. Lgr4−/− corpora lutea, key enzymes steroidogenesis...
Editing efficiency is pivotal for the efficacies of CRISPR-based gene therapies. We found that fusing an HMG-D domain to N terminus SpCas9 (named efficiency-enhanced Cas9 [eeCas9]) significantly increased editing by 1.4-fold on average. The also enhanced activities non-NGG PAM variants, high-fidelity smaller orthologs, Cas9-based epigenetic regulators, and base editors in cell lines. Furthermore, we discovered eeCas9 exhibits comparable off-targeting effects with Cas9, its specificity could...
Black rice was fermented with Neurospora crassa, after which the dietary fiber (DF) extracted from it characterized and evaluated for its cholesterol-lowering effect in mice. The findings demonstrated that fermentation increased level of soluble DF 17.27% ± 0.12 to 29.69% 0.26 adsorption capacity water, oil, cholesterol, glucose sodium cholate. had a more loose porous structure than unfermented rice. Additionally, feeding black significantly reduced body weight, lowered total cholesterol...
Background Kawasaki disease (KD) is a self-limiting and acute systemic vasculitis of unknown etiology, mainly affecting children. Ferulic acid (FA), natural phenolic substance, has multiple pharmacological properties, including anti-inflammatory, anti-apoptosis, anti-fibrosis, so on. So far, the protective effects FA on KD have not been explored. Methods In this study, we established Candida albicans water soluble fraction (CAWS)-induced mouse coronary artery model tumor necrosis factor α...