A5100421083- Immunodeficiency and Autoimmune Disorders
- NF-κB Signaling Pathways
- Parasites and Host Interactions
- Parasite Biology and Host Interactions
- T-cell and B-cell Immunology
- Immunotherapy and Immune Responses
- Cytokine Signaling Pathways and Interactions
- Helminth infection and control
- Antimicrobial Peptides and Activities
- Immune Response and Inflammation
- RNA and protein synthesis mechanisms
- RNA Research and Splicing
- Blood disorders and treatments
- RNA modifications and cancer
- Antifungal resistance and susceptibility
- Fungal Infections and Studies
- Diabetes and associated disorders
- Metabolomics and Mass Spectrometry Studies
- Bacterial Infections and Vaccines
- Peptidase Inhibition and Analysis
- RNA Interference and Gene Delivery
- Histone Deacetylase Inhibitors Research
- Fatty Acid Research and Health
- Chromosomal and Genetic Variations
- Diphtheria, Corynebacterium, and Tetanus
Chinese PLA General Hospital
2015-2024
State Ethnic Affairs Commission
2024
Southwest Minzu University
2024
RELX Group (United States)
2024
Rockefeller University
2017-2022
Shanghai Children's Medical Center
2016-2022
Shanghai Jiao Tong University
2022
Chinese Academy of Medical Sciences & Peking Union Medical College
2020
Taiyuan Central Hospital
2020
Shanxi Medical University
2020
The genetics underlying severe COVID-19 immune system is complex and involves many genes, including those that encode cytokines known as interferons (IFNs). Individuals lack specific IFNs can be more susceptible to infectious diseases. Furthermore, the autoantibody dampens IFN response prevent damage from pathogen-induced inflammation. Two studies now examine likelihood affects risk of coronavirus disease 2019 (COVID-19) through components this (see Perspective by Beck Aksentijevich). Q....
NF-kappaB may be a potential therapeutic target for acute myelogenous leukemia (AML) because activation is found in primitive human AML blast cells. In this report, we initially discovered that the potent antineoplastic effect of niclosamide, Food and Drug Administration-approved antihelminthic agent, was through inhibition pathway Niclosamide inhibited transcription DNA binding NF-kappaB. It blocked tumor necrosis factor-induced IkappaBalpha phosphorylation, translocation p65, expression...
Heterozygosity for human signal transducer and activator of transcription 3 (STAT3) dominant-negative (DN) mutations underlies an autosomal dominant form hyper-immunoglobulin E syndrome (HIES). We describe patients with recessive HIES due to loss-of-function a previously uncharacterized gene, ZNF341 is factor that resides in the nucleus, where it binds specific DNA motif present various genes, including STAT3 promoter. The patients' cells have low basal levels mRNA protein. autoinduction...
Autosomal dominant (AD) NFKB1 deficiency is thought to be the most common genetic etiology of variable immunodeficiency (CVID). However, causal link between variants and CVID has not been demonstrated experimentally genetically, there insufficient biochemical characterization enrichment analysis. We show that cotransfection NFKB1-deficient HEK293T cells (lacking both p105 its cleaved form p50) with a κB reporter, NFKB1/p105, homodimerization-defective RELA/p65 mutant results in p50:p65...
Most patients with autosomal dominant hyper-IgE syndrome (AD-HIES) carry rare heterozygous STAT3 variants. Only six of the 135 in-frame variants reported have been experimentally shown to be negative (DN), and it has recently suggested that eight out-of-frame operate by haploinsufficiency. We tested these 143 variants, 7 novel found in HIES patients, other from general population. Strikingly, all 15 were DN via their encoded (1) truncated proteins, (2) neoproteins generated a translation...
Pre-messenger RNA splicing is initiated with the recognition of a single-nucleotide intronic branchpoint (BP) within BP motif by spliceosome elements. Forty-eight rare variants in 43 human genes have been reported to alter and cause disease disrupting BP. However, until now, no computational approach was available efficiently detect such massively parallel sequencing data. We established comprehensive genome-wide database integrating existing data generating new from lariat debranching...
Human JNK1 is essential for IL-17A/F–dependent mucocutaneous immunity to Candida and TGF-β–dependent homeostasis of connective tissues.
The aim of this study was to assess the level humoral immunity against diphtheria and pertussis by measuring IgG toxoid (DT) toxin (PT) in general population Beijing. A total 2147 subjects aged 0-74 y were selected with a random sample resident information socio-demographic characteristics, vaccination history, disease history collected for each subject questionnaire. Serum samples tested antibodies DT PT using commercial ELISA kits. overall positivity rate anti-DT 66.28% mean concentration...
The purpose of this study was to assess human β-defensin-2 (hBD-2) gene transfection in bladder epithelial cells and its therapeutic efficacy a rat urinary tract infection (UTI) model via liposome mediated transfer. A large amount hBD2 production (36.5 ± 3.2 ng/10(6) cells) demonstrated transfected cells' supernatants. In addition, detectable hBD-2 identified rats' urine (4.77 1.4 ng/mL) by ELISA. Expression the transgene bladders also confirmed RT-PCR Western blotting. Immunohistochemistry...
Abstract In the present study, restriction site‐amplified polymorphism (RSAP) markers were used to examine genetic variability of Schistosoma japonicum isolates from different endemic provinces in mainland China. Of 45 pairs primers screened, 10 RSAP showed a clear banding pattern with good resolution; however, only six exhibited among isolates. Among markers, one pair (R8+R10) was able differentiate male and female parasites, amplified constant specific band for S. The recovered,...
Abstract In the present study, sequence‐related amplification polymorphism (SRAP) was utilized to study genetic variability among Schistosoma japonicum isolates from different provinces in China, using mansoni Puerto Rico for comparison. Five out of ten tested SRAP primer combinations displayed significant polymorphisms S. China , namely ME2/EM1, ME4/EM1, ME4/EM6, ME5/EM4 and ME5/EM5. Analysis 61 samples with five identified a total 83 reproducible polymorphic fragments. The number fragments...
Carboxyamidotriazole (CAI), originally developed as a non-cytotoxic anti-cancer drug, was shown to have anti-inflammatory activity according recent studies in number of animal models inflammation. However, its mechanism action has not been characterized. Therefore, the present study performed identify CAI lipopolysaccharide (LPS)-induced RAW 264.7 macrophages and signal transduction pathways involved. The vitro results revealed that had no direct effect on cyclooxygenase (COX), suggesting...
Abstract Background The GNAS gene on chromosome 20q13.3, encodes the alpha-subunit of stimulatory G protein, which is expressed in most tissues and regulated through reciprocal genomic imprinting. Disorders inactivation produce several different clinical phenotypes including pseudohypoparathyroidism (PHP), pseudopseudohypoparathyroidism (PPHP), progressive osseous heteroplasia (POH), osteoma cutis (OC). biochemical characteristics overlap PHP subtypes other related disorders presents...
Abstract In the present study, a inter‐retrotransposon‐amplified polymorphism (IRAP) technique, based on retrotransposons, was used to examine genetic variability among Schistosoma japonicum isolates from different provinces in mainland China. Of 15 primers screened, 5 produced highly reproducible IRAP patterns. Using these primers, 54 discernible DNA fragments were generated with 40 (74.07%) being polymorphic, indicating considerable variation examined S. isolates. The primer LTR‐11 found...
Abstract Psoriasis is a recurrent inflammatory skin disease, affecting approximately 2% of the population. Previous studies have demonstrated that psoriatic dermal mesenchymal stem cells (DMSC) stimulated keratinocyte (KC) proliferation and psoriasis exhibited missense SPRED1 mutations. To further investigate molecular mechanism by which DMSC stimulate KC proliferation, role mutations in psoriasis, we assessed expression levels miRNA, both mRNA protein normal human epidermal (NHEK)...
The control of flowering time plays an important role in the growth and development potato tubers. CCT (CO, COL TOC1) gene family is involved process plants. In this study, a total 32 StCCT genes were identified further classified into five subfamilies, including (17 members), PRR (4 ZIM (3 ASML2 (6 members) TCR1 (2 based on their phylogenetic relationship. An analysis structure, motif compositions conserved domain provided support for classification. unevenly distributed 12 chromosomes...
ABSTRACT Pre-mRNA splicing is initiated with the recognition of a single-nucleotide intronic branchpoint (BP) within BP motif by spliceosome elements. Fifty-six rare variants in 44 human genes have been reported to alter and cause disease disrupting BP. However, until now, no computational approach has available efficiently detect such next-generation sequencing (NGS) data. We established comprehensive genome-wide database integrating existing data, generating new data from RNA-seq lariat...
Objective To identify the features and its pathogenic mechanism in a boy with type 1 diabetes mellitus combined common variant immunodeficiency syndrome (CVID). Methods A 9 year old was identified CVID during hospitalization. The clinical analyzed. Genomic DNA extracted, followed by amplification polymerase chain reaction, whole-exome sequencing (WES) then Sanger his family members. Results A novel heterozygous missense mutation c.1073T>C, P.Leu358Ser of signal transducer...