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- 저자 : Dinghua He (검색결과 2 건)
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Anhai Chen,Chufeng He,Yong Feng,Jie Ling,Xin Peng,Xianlin Liu,Shuang Mao,Yongjia Chen,Mengyao Qin,Shuai Zhang,Yijiang Bai,Jian Song,Zhili Feng,Lu Ma,Dinghua He,Lingyun Mei1 대한이비인후과학회 2023 Clinical and Experimental Otorhinolaryngology Vol.16 No.4
Objectives. Branchio-oto syndrome (BOS) primarily manifests as hearing loss, preauricular pits, and branchial defects. EYA1is the most common pathogenic gene, and splicing mutations account for a substantial proportion of cases. However,few studies have addressed the structural changes in the protein caused by splicing mutations and potential pathogenicfactors, and several studies have shown that middle-ear surgery has limited effectiveness in improving hearing in thesepatients. BOS has also been relatively infrequently reported in the Chinese population. This study explored the ge-netic etiology in the family of a proband with BOS and provided clinical treatment to improve the patient’s hearing. Methods. We collected detailed clinical features and peripheral blood samples from the patients and unaffected individualswithin the family. Pathogenic mutations were identified by whole-exome sequencing and cosegregation analysis andclassified according to the American College of Medical Genetics and Genomics guidelines. Alternative splicing wasverified through a minigene assay. The predicted three-dimensional protein structure and biochemical experimentswere used to investigate the pathogenicity of the mutation. The proband underwent middle-ear surgery and was fol-lowed up at 1 month and 6 months postoperatively to monitor auditory improvement. Results. A novel heterozygous EYA1 splicing variant (c.1050+4 A >C) was identified and classified as pathogenic (PVS1(RNA),PM2, PP1). Skipping of exon 11 of the EYA1 pre-mRNA was confirmed using a minigene assay. This mutation mayimpair EYA1-SIX1 interactions, as shown by an immunoprecipitation assay. The EYA1-Mut protein exhibited cellularmislocalization and decreased protein expression in cytological experiments. Middle-ear surgery significantly improvedhearing loss caused by bone-conduction abnormalities in the proband. Conclusion. We reported a novel splicing variant of EYA1 in a Chinese family with BOS and revealed the potential molec-ular pathogenic mechanism. The significant hearing improvement observed in the proband after middle-ear surgeryprovides a reference for auditory rehabilitation in similar patients.
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Chuangye Yao,Wei Hu,Muhammad Ismail,Santhosh Kumar Thatikonda,Aize Hao,Shuai He,Ni Qin,Wenhua Huang,Dinghua Bao 한국물리학회 2019 Current Applied Physics Vol.19 No.11
We report the coexistence of resistive switching and magnetism modulation in the Pt/Co3O4/Pt devices, where the effects of thermal annealing and film thickness on the resistive and magnetization switching were investigated. The sol-gel derived nanocrystalline Co3O4 thin films obtained crack-free surface and crystallized cubic spinel structure. The 110 nm Co3O4 film based device annealed at 600 °C exhibited optimum resistive switching parameters. From I–V curves fitting and temperature dependent resistance, the conduction mechanism in the high-voltage region of high resistance state was dominated by Schottky emission. Magnetization-magnetic field loops demonstrated the ferromagnetic behaviors of the Co3O4 thin films. Multilevel saturation magnetization of the Co3O4 thin films can be easily realized by tuning the resistance states. Physical resistive switching mechanism can be attributed to the rejuvenation and annihilation of conductive filament consisting of oxygen vacancies. Results suggest that Pt/Co3O4/Pt device shows promising applications in the multifunctional electromagnetic integrated devices.
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