1.A novel PAX9 variant in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants
Zhanyun JIN ; Junjia GUO ; Yunyun YUAN ; Lingqiang MENG ; Hui LI ; Ya ZHAO ; Jiabao REN ; Yongping MA ; Zun-Sheng XIAO ; Hong ZHANG ; Ling YANG ; Chenyun DOU ; Xiaoxue WANG ; Jinmei WANG ; Wenjing SHEN
West China Journal of Stomatology 2024;42(5):581-592
		                        		
		                        			
		                        			Objective This study aimed to identify PAX9 variants in non-syndromic tooth agenesis families of Chi-na,as well as to analyze the genotype-phenotype of non-syndromic tooth agenesis caused by PAX9 variants,which can provide a basis for the genetic diagnosis of tooth agenesis.Methods We collected the data of 44 patients with non-syn-dromic oligodontia who underwent treatment at Stomatological Hospital of Hebei Medical University between 2018 and 2023.Whole-exome sequencing was performed on the peripheral blood of the proband and its core family members,and the variants were verified by Sanger sequencing.Pathogenicity analysis and function prediction of the variants were per-formed using bioinformatics tools.The correlation between the genotype of PAX9 variant and its corresponding pheno-type was examined by reviewing 55 publications retrieved from PubMed.The studies involved 232 tooth agenesis pa-tients with PAX9 variants.Results A novel PAX9 c.447delG(p.Pro150Argfs*62)and a reported PAX9 c.406C>T(p.Gln136*)were identified in two Chinese families.Through bioinformatics analysis and three-dimensional structural mod-eling,we postulated that the frameshift variant was pathogenic.The outcome was the premature cessation of PAX9 pro-tein,which caused severe structural and functional deficiencies.Summarizing the PAX9 genotype-phenotype relationship revealed that patients carrying the PAX9 variant commonly led to loss of the second molars.Conclusion We identified the novel PAX9 c.447delG(p.Pro150Argfs*62)in a Chinese family of non-syndromic oligodontia,expanding the known variant spectrum of PAX9.The most susceptible tooth position for PAX9 variants of tooth agenesis was the second mo-lars and the deciduous molars during the deciduous dentition.
		                        		
		                        		
		                        		
		                        	
4.Structures Characteristics and Bioactivity of Polysaccharide CALB-2 from Aurantii Fructus
Wu-jing WANG ; Yan-ni YANG ; Zi-he DING ; Ren-xing ZHONG ; Tian-yi XIA ; Shu-yuan LI ; Yi WANG ; Sheng-qing LI ; Zun-peng SHU
Chinese Journal of Experimental Traditional Medical Formulae 2020;26(16):154-160
		                        		
		                        			
		                        			Objective:To isolate and purify a polysaccharide CALB-2 fraction from Aurantii Fructus,and analyze its basic chemical structure, morphological characteristics and bioactivity. Method:A refined CALB-2 was obtained from Aurantii Fructus by hot water extraction,then separated and purified by ion exchange resin,ion exchange agarose gel and propylene dextran gel to obtain homogeneous polysaccharide CALB-2. The molecular mass of CALB-2 was determined by high performance liquid chromatography (HPLC). Monosaccharide composition analysis of CALB-2 was conducted by methylation analysis and Smith degradation. Structural analysis and morphological characterization were conducted by infrared scanning (IR) and scanning electron microscopy (SEM) analysis. Antioxidant activity of CALB-2 was studied by using H2O2-induced cardiomyocyte oxidative damage model. Result:CALB-2 was a homogeneous polysaccharide and the molecular weight of CALB-2 was estimated to be 3.57×107 Da,which was proved to be a kind of highly branched acidic polysaccharides in IR analysis, methylation analysis and Smith degradation, mainly present in form of 1→3,4 bonds. Through SEM observations,we indicated that the molecular morphology of CALB-2 was amorphous solid. The 
		                        		
		                        	
5.Icaritin prevents vascular calcification in mice.
Lu REN ; Zun WANG ; Qingzhong HUA ; Hui XIE ; Siyuan TANG
Journal of Central South University(Medical Sciences) 2019;44(1):35-39
		                        		
		                        			
		                        			To explore the effect of icaritin on preventing the vascular calcification in mouse induced by vitamin D2.
 Methods: Fifty male C57BL mice were randomly assigned to a control group (n=10) and a model group (n=40). Mice in model group were treated with gradient-concentration of icaritin for 8 weeks. Then, they were consecutively treated with vitamin D2 for 4 days. Meanwhile, mice in negative control group were treated with the same dosage of PBS. At the end of the treatment, aortae were collected to examine the concentration of Ca, the area of calcification and the expression of α-smooth muscle actin (α-SMA) and Runx2.
 Results: Compared with the negative control group, the weight of mice and the concentration of Ca in the positive control (vitamin D2+0 mg/kg icaritin) group declined significantly (P<0.05) after injection of vitamin D2. Compared with the positive control group, the Ca concentration, the area of calcification, and the expression of Runx2 were significantly declined at the middle dosage of icaritin (vitamin D2+0.2 mg/kg icaritin) group (P<0.05).
 Conclusion: Icaritin could effectively prevent the vascular calcification in mice.
		                        		
		                        		
		                        		
		                        			Animals
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		                        			Aorta
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		                        			Flavonoids
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		                        			Male
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		                        			Mice
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		                        			Mice, Inbred C57BL
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		                        			Muscle, Smooth, Vascular
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		                        			Vascular Calcification
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		                        			prevention & control
		                        			
		                        		
		                        	
6.Clinical features of long segmental myelopathy caused by nitrous oxide.
Yun Yun WANG ; Ren Bin WANG ; Wen HONG ; Jin Song JIAO ; Dan Tao PENG ; Zun Jing LIU ; Zhao Hui TIAN ; Miao JIN ; Ming Rui DONG ; Xiao Hui DUAN ; Lei LIU ; Qing SUN ; Shao Jie SUN ; Li WANG
Journal of Peking University(Health Sciences) 2019;51(2):288-292
		                        		
		                        			OBJECTIVE:
		                        			To analyze the clinical and imaging characteristics of the neurological damage caused by nitrous oxide (N2O).
		                        		
		                        			METHODS:
		                        			In the study, 10 patients in the Department of Neurology of China-Japan Friendship Hospital from October 2015 to February 2018 were retrospectively analyzed for the demographic data, the history of inhaled N2O, clinical features, blood examination, electrophysiological examination, spinal magnetic resonance imaging and therapeutic efficacy profiles.
		                        		
		                        			RESULTS:
		                        			The male-to-female ratio was 4:6 and it presented with an age-of-onset 17-26 years [the average age: (20.80±3.12) years]. The time from inhaled N2O to onset was 1 month to 1 year [the average time: (6.95±4.19) months]. Paralysis in all the patients and numbness in 9 patients were the main clinical features, while positive Lhermitte's sign in 3 patients, urinary and defecation disturbance in 4 patients were also found. Blood examination indicated anemia in 2 patients, giant cell anemia in 1 case and small cell hypochromic anemia in 1 case. 3 cases had been treated with vitamin B12 in an external hospital, and the other 7 cases had abnormal increase in homocysteine levels. Electrophysiological examinations showed sensory and motor nerve involvement in 9 patients, and motor nerve involvement in 1 patient. The severity of lower extremity lesion was significantly heavier than that of upper extremity. Spinal magnetic resonance imagings showed that long segmental lesions were present in the cervical spinal cord of all the patients, 3 cases with long segmental lesions of the thoracic cord and 2 cases with spinal cord swelling. In 6 cases, the horizontal axis had an "inverted V-type" T2 high signal, 1 case was classified as "crescent", and 3 cases were "eight-shaped". The symptoms in these 10 cases were alleviated in varying degrees after stopping the inhalation of nitrous oxide, actively supplementing high doses of vitamin B12 and doing early rehabilitation exercises.
		                        		
		                        			CONCLUSION
		                        			Myelopathy with nitrous oxide presents as paralysis and numbness in limb extremities. In imaging, cervical spinal cord damage is common, accompanied by thoracic spinal cord damage. The horizontal axis is more common in the "inverted V-type". Treatment with high doses of vitamin B12 is effective.
		                        		
		                        		
		                        		
		                        			Adolescent
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		                        			China
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		                        			Female
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		                        			Humans
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		                        			Magnetic Resonance Imaging
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		                        			Male
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		                        			Nitrous Oxide
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		                        			Retrospective Studies
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		                        			Spinal Cord Diseases
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		                        			Young Adult
		                        			
		                        		
		                        	
7.ERα36 is involved in the proliferation promotion and anti-apoptosis effects of icaritin on MG63 cells.
Wei LIU ; Zi-Qiang LUO ; Lu REN ; Mei SUN ; Ju-Qin YAO ; Jing-Xia WANG ; Zun WANG ; Si-Yuan TANG
Acta Physiologica Sinica 2018;70(5):474-480
		                        		
		                        			
		                        			The mechanism for icaritin to improve postmenopausal osteoporosis (PMOP) has not been clarified. The aim of this study was to investigate the role of estrogen receptor α36 (ERα36) in the proliferation promotion and anti-apoptosis effects of icaritin on osteoblasts and the underlying mechanism of downstream signal transduction. The ERα36 knockdown human osteosarcoma MG63 cell model was constructed by transfection of shRNA vector. Cell proliferation was detected by CCK-8, the apoptosis was detected by flow cytometry, and the activation of ERK and AKT signaling pathways was detected by Western blot. The results showed that the effects of icaritin on the proliferation and apoptosis of MG63 cells were significantly decreased after ERα36 knockdown, and icaritin could up-regulate the levels of ERK and AKT phosphorylation in MG63 cells, which could be reduced by ERα36 knockdown. The effect of icaritin on the proliferation of MG63 cells was significantly decreased by pretreating the cells with U0126 (an ERK signaling pathway blocker) and LY294002 (an AKT signaling pathway blocker), respectively. Furthermore, anti-apoptotic effect of icaritin on MG63 cells was significantly decreased after the cells were pretreated with U0126, but not with LY294002. These results suggest that icaritin exerts proliferation promotion and anti-apoptosis effects on osteoblasts through ERα36 and its downstream ERK and AKT signaling pathways.
		                        		
		                        		
		                        		
		                        	
8.Uptake of HIV Self-testing among Men Who have Sex with Men in Beijing, China: a Cross-sectional Study.
Xian Long REN ; Zun You WU ; Guo Dong MI ; Jennifer MCGOOGAN ; Ke Ming ROU ; Yan ZHAO
Biomedical and Environmental Sciences 2017;30(6):407-417
OBJECTIVETo examine HIV self-testing uptake and its determinates among men who have sex with men (MSM) in Beijing, China.
METHODSA cross-sectional online survey was conducted in Beijing, China in 2016. Participants were users of a popular Chinese gay networking application and had an unknown or negative HIV status. Univariate and multivariate logistic regression analyses were conducted to examine factors associated with HIV self-testing based on adjusted odds ratio (AOR) and 95% confidence interval (CI).
RESULTSAmong the 5,996 MSM included in the study, 2,383 (39.7%) reported to have used HIV self-testing kits. Willingness to use an HIV self-test kit in the future was expressed by 92% of the participants. High monthly income (AOR = 1.49; CI = 1.10-2.02; P = 0.010), large number of male sex partners (⋝ 2: AOR = 1.24; CI = 1.09-1.43; P = 0.002), sexual activity with commercial male sex partners (⋝ 2: AOR = 1.94; CI = 1.34 -2.82; P = 0.001), long-term drug use (AOR = 1.42; CI = 1.23-1.62; P < 0.001), and long-term HIV voluntary counseling and testing (VCT) attendance (AOR = 3.62; CI = 3.11-4.22; P < 0.001) were all associated with increased odds of HIV self-testing uptake.
CONCLUSIONThe nearly 40% rate of HIV self-testing uptake among MSM in our sample was high. In addition, an over 90% willingness to use kits in the future was encouraging. HIV self-testing could be an important solution to help China achieve the global target of having 90% of all people living with HIV diagnosed by 2020.
Adolescent ; Adult ; Beijing ; epidemiology ; Cross-Sectional Studies ; Data Collection ; HIV Infections ; diagnosis ; epidemiology ; Homosexuality, Male ; Humans ; Male ; Patient Participation ; Reagent Kits, Diagnostic ; Risk Factors ; Sexual Behavior ; Surveys and Questionnaires ; Young Adult
9.Research advance on BAP1 and its function in tumor suppression
Ze LI ; Zun REN ; Honghu TU ; Zheng JIAN ; Jianxiu YU ; Rong DENG
Journal of Shanghai Jiaotong University(Medical Science) 2017;37(5):689-693
		                        		
		                        			
		                        			BAP1 is a member of the ubiquitin C-terminal hydrolases (UCH) subfamily of deubiquitylases with basic function of removing monoubiquitin or ubiquitin chains from the specific substrate proteins. As well, it is a key factor in regulating gene expression, cell cycle, cell differentiation,cell apoptosis and DNA damage response, dependent or independent of its deubiquitination function. Evidences haverevealed that mutation or downregulation of BAP1 can prominently increase the occurrence of cancers, including uveal melanoma, mesothelioma, renal cell carcinoma, breast cancer and lung cancer. Currently, the tumor spectrum and the pathogenic mechanism on BAP1 have not been illustrated clearly, and need to be further researched,which might bring a new opportunity in treatment of cancers.
		                        		
		                        		
		                        		
		                        	
10.Myotonic dystrophy type 1 associated with white matter hyperintense lesions: clinic, imaging, and genetic analysis.
Lei LIU ; Hui-Miao LIU ; Zun-Jing LIU ; Lin-Wei ZHANG ; Wei-Hong GU ; Ren-Bin WANG
Chinese Medical Journal 2015;128(10):1412-1414
		                        		
		                        		
		                        		
		                        			Brain
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		                        			pathology
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		                        			Female
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		                        			Humans
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		                        			Magnetic Resonance Imaging
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		                        			Middle Aged
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		                        			Myotonic Dystrophy
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		                        			diagnosis
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		                        			pathology
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		                        			White Matter
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		                        			pathology
		                        			
		                        		
		                        	
            
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