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| 1 | Machine Learning Models for Genetic Risk Assessment of Infants with Non-syndromic Orofacial Cleft显示文摘The isolated type of orofacial cleft, termed non-syndromic cleft lip with or without cleft palate(NSCL/P), is the second most common birth defect in China, with Asians having the highest incidence in the world. NSCL/P involves multiple genes and complex interactions between genetic and environmental factors, imposing difficulty for the genetic assessment of the unborn fetus carrying multiple NSCL/P-susceptible variants. Although genome-wide association studies(GWAS)have uncovered dozens of single nucleotide polymorphism(SNP) loci in different ethnic populations, the genetic diagnostic effectiveness of these SNPs requires further experimental validation in Chinese populations before a diagnostic panel or a predictive model covering multiple SNPs can be built. In this study, we collected blood samples from control and NSCL/P infants inHan and Uyghur Chinese populations to validate the diagnostic effectiveness of 43 candidate SNPs previously detected using GWAS. We then built predictive models with the validated SNPs using different machine learning algorithms and evaluated their prediction performance. Our results showed that logistic regression had the best performance for risk assessment according to the area under curve. Notably, defective variants in MTHFR and RBP4, two genes involved in folic acid and vitamin A biosynthesis, were found to have high contributions to NSCL/P incidence based on feature importance evaluation with logistic regression. This is consistent with the notion that folic acid and vitamin A are both essential nutritional supplements for pregnant women to reduce the risk of conceiving an NSCL/P baby. Moreover, we observed a lower predictive power in Uyghur than in Han cases, likely due to differences in genetic background between these two ethnic populations.Thus, our study highlights the urgency to generate the HapMap for Uyghur population and perform resequencing-based screening of Uyghur-specific NSCL/P markers. | Shi-Jian Zhang Peiqi Meng Jieni Zhang Peizeng Jia Jiuxiang Lin Xiangfeng Wang Feng Chen Xiaoxing Wei | 2018 | Genomics, Proteomics & Bioinformatics2018，16，5： | 3 |
| 2 | Ocular manifestations of syphilitic uveitis in Chinese patients显示文摘 | Peizeng P Yang Ni N Zhang | 2012 | Retina2012，1032，9： | 1 |
| 3 | Production of interleukin-17 in Behcet's disease is inhibited by cyclosporin A显示文摘 | Wei Chi Peizeng Yang Xuefei Zhu | 2010 | Molecular Vision2010，5，16： | 1 |
| 4 | IL-23 promotes CD4 + T cells to produce IL-17 in Vogt-Koyanagi-Harada disease显示文摘 | Wei Chi Peizeng Yang Bing Li Changyou Wu Haoli Jin Xuefei Zhu Lina Chen Hongyan Zhou Xiangkun Huang Aize Kijlstra | 2007 | The Journal of Allergy and Clinical Immunology2007，，5： | 1 |
| 5 | Purification of Bovine Interphotoreceptor Retinoidbinding Protein and Its Uveitogenicity in Lewis Rats显示文摘Interphotoreceptor retinoid-binding protein, IRBP, not only functioning as a shuttle to carry the retinoid between photoreceptor cells and pigment epithelium, but also inducing experimental autoimmune uveoretinitis (EAU), was purified by ConA Sepharose affinity chromatography from the fractions containing IRBP obtained in the course of ion-exchange chromatography by which the bovine retinal S-antigen was purified. This much simplified method allows more rapid purification of the two kinds of protein. EA... | Peizeng Yang, Shaozhen Li, Wenshu Mao, Suhua Pan Chufang Xie, Xingyuan Cao, Shunwei Liang Zhongshan Ophthalmic Center, Sun Yat-sen University of Medical Sciences Guangzhou 510060, China | 1992 | 眼科学报1992，8，1： | 1 |
| 6 | Vogt-Koyanagi-Harada Syndrome显示文摘 | Wang Fang Peizeng Yang | 2009 | Current Eye Research2009，233，7： | 1 |
| 7 | Decreased 1,25-Di-hydroxyvitamin D3 level is involved in the pathogenesis ofVogt-Koyanagi-Harada (VKH) disease 显示文摘 | Xianglong Yi’Peizeng Yang Min Sun | 2011 | Molecular Vision2011，17，： | 1 |
| 8 | Resistance of lymphocytes to Fas-mediated apoptosis in Beh?et’s disease and Vogt-Koyangi-Harada syndrome显示文摘 | Peizeng Yang Ling Chen Hongyan Zhou Huahong Zhong Hong Wang Xiangkun Huang Aize Kijlstra | 2002 | Ocular Immunology and Inflammation2002，，1： | 1 |
| 9 | SUMO4 gene polymorphisms in Chinese Han patients with Behcet's disease显示文摘 | Shengping H Peizeng Y Liping D | 2008 | Clinical Immunology2008，129，1： | 1 |
| 10 | Vogt-Koyanagi-Harada syndrome 显示文摘 | Wang Fang Peizeng Yang | 2009 | Current Eye Research2009，233，7： | 1 |
| 11 | A de novo missense mutation in MPP2 confers an increased risk of Vogt–Koyanagi–Harada disease as shown by trio-based whole-exome sequencing显示文摘Vogt–Koyanagi–Harada(VKH)disease is a leading cause of blindness in young and middle-aged people.However,the etiology of VKH disease remains unclear.Here,we performed the first trio-based whole-exome sequencing study,which enrolled 25 VKH patients and 50 controls,followed by a study of 2081 VKH patients from a Han Chinese population to uncover detrimental mutations.A total of 15 de novo mutations in VKH patients were identified,with one of the most important being the membrane palmitoylated protein 2(MPP2)p.K315N(MPP2-N315)mutation.The MPP2-N315 mutation was highly deleterious according to bioinformatic predictions.Additionally,this mutation appears rare,being absent from the 1000 Genome Project and Genome Aggregation Database,and it is highly conserved in 10 species,including humans and mice.Subsequent studies showed that pathological phenotypes and retinal vascular leakage were aggravated in MPP2-N315 mutation knock-in or MPP2-N315 adeno-associated virus-treated mice with experimental autoimmune uveitis(EAU).In vitro,we used clustered regularly interspaced short palindromic repeats(CRISPR‒Cas9)gene editing technology to delete intrinsic MPP2 before overexpressing wild-type MPP2 or MPP2-N315.Levels of cytokines,such as IL-1β,IL-17E,and vascular endothelial growth factor A,were increased,and barrier function was destroyed in the MPP2-N315 mutant ARPE19 cells.Mechanistically,the MPP2-N315 mutation had a stronger ability to directly bind to ANXA2 than MPP2-K315,as shown by LC‒MS/MS and Co-IP,and resulted in activation of the ERK3/IL-17E pathway.Overall,our results demonstrated that the MPP2-K315N mutation may increase susceptibility to VKH disease. | Xianyang Liu Jiayu Meng Xingyun Liao Yusen Liu Qian Zhou Zongren Xu Shuming Yin Qingfeng Cao Guannan Su Siyuan He Wanqian Li Xiaotang Wang Guoqing Wang Dali Li Peizeng Yang Shengping Hou | 2023 | Cellular & Molecular Immunology2023，20，11： | 0 |
| 12 | Immunology of age related macular degeneration显示文摘Age-related macular degeneration (AMD)is the most important cause of blindness in persons over 55 years of agein the Western world.In view of the increasing life expectancy we can assume that the problem will increase dramatically over | Kijlstra Aize Yang Peizeng | 2011 | 重庆医学2011，40，6： | 0 |
| 13 | The genetics of Behcet’s disease in a Chinese population显示文摘Behcet’s disease is defined as a multisystemic inflammatory disease.Although the precise pathogenesis and etiology is still a mystery,accumulating evidence shows that genetic variants of immune-related genes have a profound influence on the development of Behcet’s disease.To explore the genetic factors for Behcet’s disease,our group investigated the association of Behcet’s disease with multiple immune response genes and has identified multiple Behcet’s disease-related immunoregulatory pathways in the Chinese Han population.A large number of gene polymorphisms were studied including STAT4,IL23R,CD40,CCR1/CCR3,STAT3,OPN,IL17,JAK2,MCP-1,CTLA4,PD-1,PD-L1,PD-L2,TGRBR3,CCR6,PTPN22,FCRL3,IRF5,SUMO4 and UBAC2.Significant associations were found between Behcet’s disease and STAT4,IL23R,CD40,CCR1/CCR3,STAT3,MCP-1,TGFBR3,FCRL3,SUMO4,UBAC2.These genetic predisposition studies support an important role for both lymphocyte differentiation as well as ubiquitination pathways.These findings are helpful in elucidating the pathogenesis of Behcet’s disease and hopefully will allow the development of novel treatment regimes. | Shengping Hou Aize Kijlstra Peizeng Yang | 2012 | Frontiers of Medicine2012，6，4： | 0 |
| 14 | Effects of D2 receptor antagonist haloperidol on hippocampal neuronal apoptosis in a rat model of temporal epilepsy显示文摘BACKGROUND: Dopamine receptors are divided into D1 and D2 subgroups. It has been reported that D2 receptors resist neural toxicity induced by excitatory amino acids and muscarine, and also alleviate epilepsy attacks following pilocarpine treatment. However, it has not yet been established whether D2 receptors regu- late temporal epilepsy. OBJECTIVE: To observe the effects of the D2 antagonist haloperidol on hippocampal neuronal apoptosis and electrical brain activity in a rat model of kainic acid-induced temporal epilepsy. DESIGN, TIME AND SETTING: Randomized grouping and histopathological study were performed at the Neurology Medicine Institute of Zhujiang Hospital, Southern Medical University from August to December 2004. MATERIALS: Twenty-five adult, male, Sprague Dawley rats were selected for the present study. Kainic acid (Sigma, USA) was injected into the right lateral ventricle to establish models of temporal epilepsy. A PowerLab multiplying channel electrophysiolograph was provided by AD Instruments, Australia. METHODS: The rats were randomly divided into 5 groups (n = 5): control, model, haloperidol hippocam-pus, haloperidol striatum, and haloperidol substantia nigra. Temporal epilepsy was established in all rats except the control group. Haloperidol was slowly injected into the hippocampus, striatum and substantia nigra, respectively, in three different injection groups. Normal saline was injected into the right lateral ventricle of the control rats. MAIN OUTCOME MEASURES: Hippocampal apoptosis was observed on the day 3 of treatment using TUNEL staining. Changes in electroencephalogram at 0, 0.5, 2, 6, and 12 hours following treatment onset were observed using a PowerLab multiplying channel electrophysiolograph. Animal behaviors were classified according to the Racine criteria. RESULTS: Twenty-five rats were included in the final analysis. Seizures did not occur in the control group. In the model group, 10 minutes after kainic acid injection to the lateral cerebral ventricle, epilepsy seizures occurred and reached a peak within one hour. Hippocampal neuronal apoptosis occurred following epilepsy, in particular on day 3. Following haloperidol injection, hippocampal neuronal apoptosis increased, in particular in the haloperidol hippocampus group, and was significantly greater than the model group (P < 0.05). CONCLUSION: Results suggested that D2 receptors inhibited temporal epilepsy. The hippocampal D2 receptors exhibited the strongest influence on temporal epilepsy in the hippocampus, followed by the substantia nigra and the striatum. | Songqing Wang Aihua Zhang Haitang Chen Qianghua He Peizeng Xie Yiquan Ke Xiaodan Jiang | 2008 | Neural Regeneration Research2008，3，10： | 0 |
| 15 | Identification of differently expressed mRNAs by peripheral blood mononuclear cells in Vogt-Koyanagi-Harada disease显示文摘Vogt-Koyanagi-Harada disease(VKH)is a rare autoimmune disease characterized by diffuse and bilateral uveitis,alopecia,tinnitus,hearing loss,vitiligo and headache.The transcriptional expression pattern of peripheral blood mononuclear cells(PBMC)in VKH remains largely unknown.In this study,mRNA sequencing was conducted in PBMC from VKH patients with active uveitis before treatment(n=7),the same patients after prednisone combined with cyclosporine treatment(n=7)and healthy control subjects strictly matched with gender and age(n=7).We found 118 differentially expressed genes(DEGs)between VKH patients and healthy control subjects,and 21 DEGs between VKH patients before and after treatment.TRIB1 was selected as a potential biomarker to monitor the development of VKH according to the mRNA sequencing.Gene Ontology(GO)and Kyoto Encyclopedia of Genes and Genomes(KEGG)analysis were performed to predict the possible biological functions and signaling pathways of DEGs.Neutrophil degranulation,peptidase regulator activity,secretory granule membrane,cellular response to peptide,growth factor binding and cell projection membrane were enriched as GO annotations of DEGs.Arachidonic acid metabolism and mitogen-activated protein kinase(MAPK)signaling pathway were potential signaling pathways involved in pathogenesis and drug response of VKH.A protein–protein interaction(PPI)network was constructed by STRING,and colony stimulating factor 1 receptor(CSF1R)was identified as the hubgene of all DEGs by Cytoscape.The cell type presumed to contribute to the aberrant expression of DEGs was analyzed with the use of publicly available single-cell sequencing data of PBMC from a healthy donor and single-cell sequencing dataset of monocytes from VKH patients.Our findings may help to decipher the underlying cellular and molecular pathogenesis of VKH and may lead novel therapeutic applications. | Yujing Li Guannan Su Fanfan Huang Ying Zhu Xiang Luo Aize Kijlstra Peizeng Yang | 2022 | Genes & Diseases2022，9，5： | 0 |
| 16 | CD4^+ T cells from behcet patients produce high levels of IL-17显示文摘Purpose:To investigate the role of interleukin (IL)-17-producing CD4+ T cells in Behcet disease (BD).Methods:Blood samples were drawn from eight BD patients with active uveitis,eight BD patients with inactive uveitis and eight normal controls,respectively.PBMCs were prepared from heparinized blood by Ficoll-Hypaque density-gradient centrifugation.Peripheral CD4+ T cells were purified by Human CD4 Microbeads.(MACS).The purity rate of CD4+ T cells was detected using flow cytometry.Purified CD4+ T cells were stimulated with or without anti-CD3 and anti-CD28 antibodies in the presence or absence of recombinant-IL-23 (rIL-23) or recombinant-IL-12 (rIL-12) for 72 hours.The concentrations of IL-17,IFN-γ and IL-4 in the collected supernatants from CD4+ T cells were measured using a Duoset ELISA Development kit.Results:The results showed that the levels of IL-17 and IFN-γ observed in active BD patients were significantly higher as compared with those in inactive patients and normal controls.There was no significant difference concerning IL-4 production between BD patients and normal controls.rIL-23 significantly augmented the production of IL-17 by CD4+ T cells from both BD patients and normal controls.Both rIL-23 and rIL-12 could increase IFN-γ production by CD4+ T cells from BD patients and normal controls.Moreover,the effect of rIL-12 was more robust compared with that of rIL-23.Neither rIL-23 nor rIL-12 exerted any effect on IL-4 production.Conclusion:rIL-23 can promote the production of IL-17 by CD4+ T cells in BD patients.The upregulated IL-17 levels may be related with the intraocular inflammation of Behcet patients. | Wei Chi Sheng Zhou Peizeng Yang Lina Chen | 2011 | Eye Science2011，26，2： | 0 |
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