This study aimed to assess the relationship of OAS2 rs739901 5＇-flanking C/A polymorphisms with the susceptibility to Enterovirus-71 （EV71） infection. We investigated 294 hand-foot-mouth disease （HFMD） Chinese ch...This study aimed to assess the relationship of OAS2 rs739901 5＇-flanking C/A polymorphisms with the susceptibility to Enterovirus-71 （EV71） infection. We investigated 294 hand-foot-mouth disease （HFMD） Chinese children with EV71 infection （165 mild cases and 129 encephalitis cases）. The improved multiplex ligation detection reaction （iMLDR） technique was used to test the genotypes. In EV71-infected patients, the CA genotype distribution （P=0.007）, A allele frequency （OR 1.32, 95% CI 1.0-1.7, P=0.034） and CA＋AA carriage frequency （P=0.003） of OAS2 rs739901 5＇-flanking were obviously elevated as compared with controls, but there were no statistically significant differences between mild cases and encephalitis cases. In EV71-infected patients, the counts of white blood cells （P=0.034） and blood glucose concentrations （P=0.042） were raised in A carriers （CA＋AA）. Among different genotypes of encephalitis cases, the contents of cerebrospinal fluid （CSF） showed no significant differences. IFN-7 levels in EV71-infected patients were higher than those in controls （mild group vs. control group, P〈0.01; encephalitis group vs. control group, P〈0.001）. In encephalitis cases, IFN-7 levels were reduced （P〈0.05） in A carriers compared to CC genotype, however, there were no significant differences between genotypes CA and AA （ P=0.226）. These findings suggest that OAS2 rs739901 5＇-flanking C/A genetic polymorphisms involve the susceptibility to EV71 infection, and A allele might be a risk factor of the susceptibility to EV-71 infection.展开更多
FAM20A has been studied to a very limited extent. Mutations in human FAM20A cause amelogenesis imperfecta, gingival fibromatosis and kidney problems. It would be desirable to systemically analyse the expression of FAM...FAM20A has been studied to a very limited extent. Mutations in human FAM20A cause amelogenesis imperfecta, gingival fibromatosis and kidney problems. It would be desirable to systemically analyse the expression of FAM20A in dental tissues and to assess the pathological changes when this molecule is specifically nullified in individual tissues. Recently, we generated mice with a Fam2OA-floxed allele containing the beta-galactosidase reporter gene. We analysed FAM20A expression in dental tissues using X-Gal staining, immunohistochemistry and in situ hybridization, which showed that the ameloblasts in the mouse mandibular first molar began to express FAM20A at 1 day after birth, and the reduced enamel epithelium in erupting molars expressed a significant level of FAM2OA. By breeding K14-Cre mice with Fam20An^x/fl^x mice, we created K14-Cre;Fam20Af/flox/flox （conditional knock out, cKO） mice, in which Fam20A was inactivated in the epithelium. We analysed the dental tissues of cKO mice using X-ray radiography： histology and immunohistochemistry. The molar enamel matrix in cKO mice was much thinner than normal and was often separated from the dentinoenamel junction. The Fam2OA-deficient ameloblasts were non-polarized and disorganized and were detached from the enamel matrix. The enamel abnormality in cKO mice was consistent with the diagnosis of amelogenesis imperfecta. The levels of enamelin and matrix metalloproteinase 20 were lower in the ameloblasts and enamel of cKO mice than the normal mice, The cKO mice had remarkable delays in the eruption of molars and hyperplasia of the gingival epithelium. The findings emphasize the essential roles of FAM20A in the development of dental and oral tissues.展开更多
By doping Ni into YBa2Fe308＋w （YBFO） system, we obtained the phase YBa2Fe3-xNixO8＋w （YBFNO, x=0, 0.05, 0.10, 0.15, 0.30, 0.50, 1.00）. This paper discusses the changes in crystal structural, resistivity and magne...By doping Ni into YBa2Fe308＋w （YBFO） system, we obtained the phase YBa2Fe3-xNixO8＋w （YBFNO, x=0, 0.05, 0.10, 0.15, 0.30, 0.50, 1.00）. This paper discusses the changes in crystal structural, resistivity and magnetoresistivity （MR） of YBFO samples due to the incorporation of transition metal Ni. The results show that Ni substitution for partial Fe in YBFO does not substantially transform the structure of parent phase, but results in tiny changes in the lat- tice parameters. The YBFO crystal with Ni doped is semiconducting.展开更多
MicroRNAs （miRNAs） are a class of small non-coding regulatory RNAs, and changes in miRNAs are involved in tumor origin and progression. Studies have shown that miR-20a is overexpressed in human ovarian cancer tissue...MicroRNAs （miRNAs） are a class of small non-coding regulatory RNAs, and changes in miRNAs are involved in tumor origin and progression. Studies have shown that miR-20a is overexpressed in human ovarian cancer tissues and that this miRNA enhances long-term cellular proliferation and invasion capabilities. In this study, a positive correlation between serum miR-20a expression and ovarian cancer stage was observed. We found that miR-20a binds directly to the 3＇-untranslated region of MICA/B mRNA, resulting in its degradation and reducing its protein levels on the plasma membrane. Reduction of membrane-bound MICA/B proteins, which are ligands of the natural killer group 2 member D （NKG2D） receptor found on natural killer （NK） cells, y＋ T cells and CD8＋ T cells, allows tumor cells to evade immune-mediated killing. Notably, antagonizing miR-20a action enhanced the NKG2D-mediated killing of tumor cells in both in vitro and in vivo models of tumors. Taken together, our data indicate that increased levels of miR-20a in tumor cells may indirectly suppress NK cell cytotoxicity by downregulating MICA/B expression. These data provide a potential link between metastasis capability and immune escape of tumor cells from NK cells.展开更多
Background： Idiopathic basal ganglia calcification （IBGC） is a genetic disorder characterized by bilateral basal ganglia calcification and neural degeneration. In this study, we reported a new SLC2OA2 mutation of I...Background： Idiopathic basal ganglia calcification （IBGC） is a genetic disorder characterized by bilateral basal ganglia calcification and neural degeneration. In this study, we reported a new SLC2OA2 mutation of IBGC and reviewed relevant literature to explore the association between phenotypes and genotypes in Chinese IBGC patients. Methods： Clinical information of the proband and her relatives were collected comprehensively. Blood samples of both the patient and her father were obtained, and genetic screening related to IBGC was performed using second generation sequencing with their consent. Findings were confirmed by Sanger sequencing. Polyphen-2 was used to predict the potential association between mutations and disease. Then, we retrieved literatures of Chinese IBGC patients and explored the association between phenotype and genotype. Results： A novel mutation was identified through genetic testing, and it is suggested to be a damage mutation predicted by Polyphen-2. Through literature review, we tbund that SLC2OA2 mutation is the most common cause for IBGC in China. Its hot spot regions are mainly on the 1^st and 8th exons; the second common one is PDGFB where the hot spot covered a length of 220-230 bp localized on the 2^nd exon; moreover, Chinese IBGC patients featured early-onset, more severe movement disorder and relatively mild cognitive impairment compared with those in other countries. Conclusions： There is significant heterogeneity both in phenotype and genotype in Chinese IBGC patients. Further research of pathogenic mechanism of IBGC is required to eventually develop precise treatment for individuals who suffered this disease.展开更多
基金This study was supported by grants from the National Natural Science Foundation of China （No. 31171212）, the Medical and Health Science and Technology Development Projects of Shangdong Province （No. 2017WS379）, and the Science and Technology Development Projects of Zibo City （No. 2017kj010010）.
文摘This study aimed to assess the relationship of OAS2 rs739901 5＇-flanking C/A polymorphisms with the susceptibility to Enterovirus-71 （EV71） infection. We investigated 294 hand-foot-mouth disease （HFMD） Chinese children with EV71 infection （165 mild cases and 129 encephalitis cases）. The improved multiplex ligation detection reaction （iMLDR） technique was used to test the genotypes. In EV71-infected patients, the CA genotype distribution （P=0.007）, A allele frequency （OR 1.32, 95% CI 1.0-1.7, P=0.034） and CA＋AA carriage frequency （P=0.003） of OAS2 rs739901 5＇-flanking were obviously elevated as compared with controls, but there were no statistically significant differences between mild cases and encephalitis cases. In EV71-infected patients, the counts of white blood cells （P=0.034） and blood glucose concentrations （P=0.042） were raised in A carriers （CA＋AA）. Among different genotypes of encephalitis cases, the contents of cerebrospinal fluid （CSF） showed no significant differences. IFN-7 levels in EV71-infected patients were higher than those in controls （mild group vs. control group, P〈0.01; encephalitis group vs. control group, P〈0.001）. In encephalitis cases, IFN-7 levels were reduced （P〈0.05） in A carriers compared to CC genotype, however, there were no significant differences between genotypes CA and AA （ P=0.226）. These findings suggest that OAS2 rs739901 5＇-flanking C/A genetic polymorphisms involve the susceptibility to EV71 infection, and A allele might be a risk factor of the susceptibility to EV-71 infection.
基金supported by the National Natural Science Foundation of China (Grant No. 81171744)the Natural Science Foundation of Heilongjiang Province of China (Grant H201418)
文摘FAM20A has been studied to a very limited extent. Mutations in human FAM20A cause amelogenesis imperfecta, gingival fibromatosis and kidney problems. It would be desirable to systemically analyse the expression of FAM20A in dental tissues and to assess the pathological changes when this molecule is specifically nullified in individual tissues. Recently, we generated mice with a Fam2OA-floxed allele containing the beta-galactosidase reporter gene. We analysed FAM20A expression in dental tissues using X-Gal staining, immunohistochemistry and in situ hybridization, which showed that the ameloblasts in the mouse mandibular first molar began to express FAM20A at 1 day after birth, and the reduced enamel epithelium in erupting molars expressed a significant level of FAM2OA. By breeding K14-Cre mice with Fam20An^x/fl^x mice, we created K14-Cre;Fam20Af/flox/flox （conditional knock out, cKO） mice, in which Fam20A was inactivated in the epithelium. We analysed the dental tissues of cKO mice using X-ray radiography： histology and immunohistochemistry. The molar enamel matrix in cKO mice was much thinner than normal and was often separated from the dentinoenamel junction. The Fam2OA-deficient ameloblasts were non-polarized and disorganized and were detached from the enamel matrix. The enamel abnormality in cKO mice was consistent with the diagnosis of amelogenesis imperfecta. The levels of enamelin and matrix metalloproteinase 20 were lower in the ameloblasts and enamel of cKO mice than the normal mice, The cKO mice had remarkable delays in the eruption of molars and hyperplasia of the gingival epithelium. The findings emphasize the essential roles of FAM20A in the development of dental and oral tissues.
基金supported by Funds from Center University of the Education Ministry (No. SWJTU09ZT24)
文摘By doping Ni into YBa2Fe308＋w （YBFO） system, we obtained the phase YBa2Fe3-xNixO8＋w （YBFNO, x=0, 0.05, 0.10, 0.15, 0.30, 0.50, 1.00）. This paper discusses the changes in crystal structural, resistivity and magnetoresistivity （MR） of YBFO samples due to the incorporation of transition metal Ni. The results show that Ni substitution for partial Fe in YBFO does not substantially transform the structure of parent phase, but results in tiny changes in the lat- tice parameters. The YBFO crystal with Ni doped is semiconducting.
文摘MicroRNAs （miRNAs） are a class of small non-coding regulatory RNAs, and changes in miRNAs are involved in tumor origin and progression. Studies have shown that miR-20a is overexpressed in human ovarian cancer tissues and that this miRNA enhances long-term cellular proliferation and invasion capabilities. In this study, a positive correlation between serum miR-20a expression and ovarian cancer stage was observed. We found that miR-20a binds directly to the 3＇-untranslated region of MICA/B mRNA, resulting in its degradation and reducing its protein levels on the plasma membrane. Reduction of membrane-bound MICA/B proteins, which are ligands of the natural killer group 2 member D （NKG2D） receptor found on natural killer （NK） cells, y＋ T cells and CD8＋ T cells, allows tumor cells to evade immune-mediated killing. Notably, antagonizing miR-20a action enhanced the NKG2D-mediated killing of tumor cells in both in vitro and in vivo models of tumors. Taken together, our data indicate that increased levels of miR-20a in tumor cells may indirectly suppress NK cell cytotoxicity by downregulating MICA/B expression. These data provide a potential link between metastasis capability and immune escape of tumor cells from NK cells.
文摘Background： Idiopathic basal ganglia calcification （IBGC） is a genetic disorder characterized by bilateral basal ganglia calcification and neural degeneration. In this study, we reported a new SLC2OA2 mutation of IBGC and reviewed relevant literature to explore the association between phenotypes and genotypes in Chinese IBGC patients. Methods： Clinical information of the proband and her relatives were collected comprehensively. Blood samples of both the patient and her father were obtained, and genetic screening related to IBGC was performed using second generation sequencing with their consent. Findings were confirmed by Sanger sequencing. Polyphen-2 was used to predict the potential association between mutations and disease. Then, we retrieved literatures of Chinese IBGC patients and explored the association between phenotype and genotype. Results： A novel mutation was identified through genetic testing, and it is suggested to be a damage mutation predicted by Polyphen-2. Through literature review, we tbund that SLC2OA2 mutation is the most common cause for IBGC in China. Its hot spot regions are mainly on the 1^st and 8th exons; the second common one is PDGFB where the hot spot covered a length of 220-230 bp localized on the 2^nd exon; moreover, Chinese IBGC patients featured early-onset, more severe movement disorder and relatively mild cognitive impairment compared with those in other countries. Conclusions： There is significant heterogeneity both in phenotype and genotype in Chinese IBGC patients. Further research of pathogenic mechanism of IBGC is required to eventually develop precise treatment for individuals who suffered this disease.
