4篇
您的检索式：作者名="Wan Xiuhua"
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| 1 | A novel deletion mutation, c.1296delT in the BCOR gene, is associated with oculo-facio-cardio-dental syndrome显示文摘The purpose of the present study was to analyze the clinical phenotypes of a girl with oculo-facio-cardio-dental(OFCD)syndrome and to identify the potential pathogenic mutation responsible for her disease. The patient underwent detailed clinical examinations and phenotype data were collected over a follow-up period of 9 years. Mutation analysis of the candidate gene BCOR was performed with polymerase chain reaction and Sanger sequencing. BCOR of 60 unrelated normal individuals were also sequenced as a control group. Clinical phenotyping and follow-up study results indicate that this patient had multiple system anomalies including ocular, facial, cardiac, dental, and limb malformations. In addition, papilloma of the choroid plexus was identified, which represents the first report of this phenotype in an OFCD patient. A novel deletion mutation, c.1296 delT in exon4 of the BCOR gene, was identified in this patient and was not found in her parents or in 60 normal unrelated individuals. This deletion was a frameshift mutation and is proposed to encode a premature stop codon, thus producing a truncated protein. Our patient fitted the diagnostic criteria for OFCD syndrome and we report the first papilloma of the choroid plexus in an OFCD patient, expanding the recognized phenotypic spectrum of this disease. Meanwhile, we identified a novel deletion mutation that may cause OFCD syndrome. | Jingshang Zhang Hongyan Jia Jinda Wang Ying Xiong Jing Li Xiaoxia Li Jing Zhao Xiaohui Zhang Qisheng You Guyu Zhu Frank F.Tsai Mark Espina Xiuhua Wan | 2019 | Science China(Life Sciences)2019，62，1： | 6 |
| 2 | Comparison of ocular modulation transfer function determined by a ray-tracing aberrometer and a double-pass system in early cataract patients显示文摘 | Qiao Liya Wan Xiuhua Cai Xiaogu Balamurali Vasudevan Xiong Ying Tan Jiaxuan Guan Zheng David A Atchison Wang Ningli | 2014 | Chinese Medical Journal2014，，19： | 3 |
| 3 | TGF-β regulation of microRNA miR-497-5p and ocular lens epithelial cell mesenchymal transition显示文摘The purpose of this study was to investigate the role of a human lens microRNA(miR-497-5p) in regulating epithelialmesenchymal transition(EMT) under the control of transforming growth factor beta(TGF-β). A microRNA array was used to evaluate the microRNA profiles of untreated and TGF-β-treated human lens epithelial cells in culture. This showed that TGF-βtreatment led to the upregulation of 96 microRNAs and downregulation of 39 microRNAs. Thirteen microRNAs were predicted to be involved in the pathogenesis of posterior capsule opacification(PCO). Meanwhile, overexpression of miR-497-5p suppressed cell proliferation and EMT 48 h post-transfection, and inhibition of miR-497-5p accelerated cell proliferation and EMT.Treatment with TGF-β inhibited the expression of miR-497-5p, but not cell proliferation. miR-497-5p was also found to regulate the level of CCNE1 and FGF7, which are reported to be actively involved in EMT. CCNE1 and FGF7 were bona fide targets of miR-497-5p. The results suggest that miR-497-5p participates in the direct regulation of lens epithelial cell EMTand is regulated by TGF-β. miR-497-5p may be a novel target for PCO therapy. | Jinda Wang Jingshang Zhang Ying Xiong Jing Li Xiaoxia Li Jing Zhao Guyu Zhu Hailong He Yusufu Mayinuer Xiuhua Wan | 2020 | Science China(Life Sciences)2020，63，12： | 3 |
| 4 | Enhanced efficiency of graphene-silicon Schottky junction solar cell through inverted pyramid arrays texturation显示文摘Nanostructures of silicon are gradually becoming hot candidate due to outstanding capability for trapping light and improving conversion efficiency of solar cell. In this paper, silicon nanowires(SiNWs) and silicon inverted pyramid arrays(SiIPs) were introduced on surface of Gr-Si solar cell through silver and copper-catalyzed chemical etching, respectively. The effects of SiNWs and SiIPs on carrier lifetime, optical properties and efficiency of Gr-SiNWs and Gr-SiIPs solar cells were systematically analyzed. The results show that the inverted pyramid arrays have more excellent ability for balancing antireflectance loss and surface area enlargement. The power conversion efficiency(PCE) and carrier lifetime of Gr-SiIPs devices respectively increase by 62% and 34% by comparing with that of Gr-SiNWs solar cells. Finally, the Gr-SiIPs cell with PCE of 5.63% was successfully achieved through nitric acid doping. This work proposes a new strategy to introduce the inverted pyramid arrays for improving the performance of Gr-Si solar cells. | Jiajia Qiu Yudong Shang Xiuhua Chen Shaoyuan Li Wenhui Ma Xiaohan Wan Jia Yang Yun Lei Zhengjie Chen | 2018 | Journal of Materials Science & Technology2018，34，11： | 2 |
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