A5008818288- CRISPR and Genetic Engineering
- Animal Genetics and Reproduction
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Epigenetics and DNA Methylation
- Genomics and Rare Diseases
- Pluripotent Stem Cells Research
- Prenatal Screening and Diagnostics
- Advanced biosensing and bioanalysis techniques
- Genetic Syndromes and Imprinting
- Protein Tyrosine Phosphatases
- Genomic variations and chromosomal abnormalities
- Cancer-related gene regulation
- RNA modifications and cancer
- Animal Disease Management and Epidemiology
- Bioinformatics and Genomic Networks
- Chromosomal and Genetic Variations
- Mesenchymal stem cell research
- Viral Infections and Immunology Research
- Cellular Mechanics and Interactions
- Cell Adhesion Molecules Research
- Tissue Engineering and Regenerative Medicine
- Virus-based gene therapy research
- PI3K/AKT/mTOR signaling in cancer
- Molecular Biology Techniques and Applications
- Genetic Neurodegenerative Diseases
BGI Group (China)
2014-2024
BGI Research
2023-2024
University of Chinese Academy of Sciences
2021-2024
China National GeneBank
2017-2022
University of Copenhagen
2017-2022
Harvard University Press
2022
Aarhus University
2022
Dahua Technology (China)
2019
Chinese Academy of Medical Sciences & Peking Union Medical College
2015
First Affiliated Hospital of Soochow University
2010
Autosomal recessive, early-onset Parkinsonism is clinically and genetically heterogeneous. Here, we report the identification, by homozygosity mapping exome sequencing, of a SYNJ1 homozygous mutation (p.Arg258Gln) segregating with disease in an Italian consanguineous family Parkinsonism, dystonia, cognitive deterioration. Response to levodopa was poor, limited side effects. Neuroimaging revealed brain atrophy, nigrostriatal dopaminergic defects, cerebral hypometabolism. encodes synaptojanin...
Abstract The design of CRISPR gRNAs requires accurate on-target efficiency predictions, which demand high-quality gRNA activity data and efficient modeling. To advance, we here report on the generation for 10,592 SpCas9 gRNAs. Integrating these with complementary published data, train a deep learning model, CRISPRon, 23,902 Compared to existing tools, CRISPRon exhibits significantly higher prediction performances four test datasets not overlapping training used development tools....
Abstract Background Fusion of DNA methyltransferase domains to the nuclease-deficient clustered regularly interspaced short palindromic repeat (CRISPR) associated protein 9 (dCas9) has been used for epigenome editing, but specificities these dCas9 methyltransferases have not fully investigated. Findings We generated CRISPR-guided by fusing catalytic domain DNMT3A or DNMT3B C terminus from Streptococcus pyogenes and validated its on-target global off-target characteristics. Using targeted...
Dysregulated intracellular pH is emerging as a hallmark of cancer. In spite their acidic environment and increased acid production, cancer cells maintain alkaline that promotes progression by inhibiting apoptosis increasing glycolysis, cell growth, migration, invasion. Here we identify signal transducer activator transcription-3 (STAT3) key factor in the preservation cytosol. STAT3 associates with vacuolar H+-ATPase coiled-coil domain-dependent manner increases its activity living vitro....
The truncated mutant form of the charged multivesicular body protein 2B (CHMP2B) is causative for frontotemporal dementia linked to chromosome 3 (FTD3). CHMP2B a constituent endosomal sorting complex required transport (ESCRT) and, when mutated, disrupts endosome-to-lysosome trafficking and substrate degradation. To understand underlying molecular pathology, FTD3 patient induced pluripotent stem cells (iPSCs) were differentiated into forebrain-type cortical neurons. neurons exhibited...
Balanced chromosomal rearrangement (or balanced chromosome abnormality, BCA) is a common structural variation. Next-generation sequencing has been reported to detect BCA-associated breakpoints with the aid of karyotyping. However, complications associated this approach and requirement for cytogenetics information limited its application. Here, we provide whole-genome low-coverage BCA events independent knowing affected regions low false positives. First, six samples containing BCAs were used...
Abstract Background There is a need for functional genome-wide annotation of the protein-coding genes to get deeper understanding mammalian biology. Here, new strategy introduced based on dimensionality reduction and density-based clustering whole-body co-expression patterns. This has been used explore gene expression landscape in pig, we present map all major pig tissues organs. Results An open-access ( www.rnaatlas.org ) presented 350 samples across 98 well-defined divided into 44 tissue...
Ferrets have become an indispensable tool in the understanding of influenza virus virulence and pathogenesis. Furthermore, ferrets are preferred preclinical model for vaccine therapeutic testing. Here we characterized infectome during different stages infectious process with without prior specific immunity to influenza. RNA from lung tissue lymph nodes infected naïve animals was subjected next-generation sequencing, followed by de novo data assembly annotation resulting sequences; this...
Methods for sensitive and high-throughput evaluation of CRISPR RNA-guided nucleases (RGNs) off-targets (OTs) are essential advancing RGN-based gene therapies. Here we report SURRO-seq simultaneously evaluating thousands therapeutic RGN OTs in cells. captures RGN-induced indels cells by pooled lentiviral libraries deep sequencing, an approach comparable complementary to detection T7 endonuclease 1, GUIDE-seq, CIRCLE-seq. Application 8150 from 110 RGNs identifies significantly detectable 783...
The pandemic spread of African swine fever (ASF) has caused serious effects on the global pig industry. Virus genome sequencing and genomic epidemiology analysis play an important role in tracking outbreaks disease tracing transmission virus. Here we obtained full-length sequence virus (ASFV) first outbreak ASF China August 3rd, 2018 compared it with other published genotype II ASFV genomes including 9 collected from September to October 2020. Phylogenetic sequences revealed that evolved...
Punctate palmoplantar keratoderma (PPPK) is a rare autosomal dominant skin disorder characterised by numerous hyperkeratotic papules irregularly distributed on the palms and soles. To date, no causal gene for this disease has been identified.We performed exome sequencing analysis of four affected individuals two unaffected controls from one Chinese PPPK family where locus was mapped at 8q24.13-8q24.21 our previous linkage analysis.We identified novel heterozygous mutation in COL14A1...
<h3>Background</h3> Autosomal dominant (AD) central core disease (CCD) is a congenital myopathy characterised by the presence of cores in muscle fibres which correspond to broad areas myofibrils disorganisation, Z-line streaming and lack mitochondria. Heterozygous mutations <i>RYR1</i> gene were observed large majority AD-CCD families; however, this was excluded some families. <h3>Objective</h3> To enlarge genetic spectrum demonstrating an additional gene. <h3>Patients methods</h3> Four...
Abstract Familial hypophosphatemic rickets (HR), the most common inherited form of rickets, is a group renal phosphate wasting disorders characterized by growth retardation, with bone deformities, osteomalacia, poor dental development, and hypophosphatemia. The purpose this study was to identify genetic defect responsible for familial HR in four-generation Chinese Han pedigree exome sequencing Sanger sequencing. Clinical features include skeletal teeth abnormalities, hearing impairments...
Induced mesenchymal stromal cells (iMSCs) derived from human pluripotent stem (PSCs) are attractive for regenerative medicine. However, the transcriptome of iMSCs and signature genes that can distinguish MSCs fibroblasts other cell types rarely explored. In this study, we reported an optimized feeder-free method generation cells. These display a typical MSC morphology, express classic markers (CD29, CD44, CD73, CD90, CD105, CD166), negative lymphocyte (CD11b, CD14, CD31, CD34, CD45, HLA-DR),...
Abstract The transcription factor cyclic-AMP response element-binding protein 1 (CREB1) responds to cAMP level and controls the expression of target genes, which regulates nutrition partitioning. promoters CREB1-targeted genes responsive have been extensively investigated characterized with presence both element TATA box. Compelling evidence demonstrates that CREB1 also plays an essential role in promoting tumor development. However, only very few required for cell survival, proliferation...
Alport syndrome (AS) is a monogenic disease of the basement membrane (BM), resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and ocular anomalies. It caused by mutations collagen type IV alpha-3 gene ( COL4A3 ), alpha-4 COL4A4 alpha-5 COL4A5 which encodes α 3, 4, 5 chains, respectively. To explore disease-related four-generation Chinese Han pedigree AS, exome sequencing was conducted on proband, novel deletion mutation c.499delC...