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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.
Mei-Chen Lo,Jia-Yin Chen,Yung-Ting Kuo,Wei-Lu Chen,Horng-Mo Lee,Shyang-Guang Wang 대한약학회 2019 Archives of Pharmacal Research Vol.42 No.8
Caloric restriction activates sirtuin 1 (SIRT1)and induces a variety of metabolic effects that are beneficialfor preventing age-related disease. The present studyscreened a commercially available used drug library todevelop small molecule activators of SIRT1 as therapeuticsfor treatment of metabolic disorders. Using an in vitrofluorescence assay, the cancer therapeutic camptothecinincreased SIRT1 enzymatic activity by 5.5-fold, indicatingit to be a potent SIRT1 activator. Camptothecin also elevatedthe nicotinamide adenine dinucleotide (NAD)?/NADH ratio and increased SIRT1 protein levels in differentiatedC2C12 myogenic cells. Treatment of C2C12 myotubeswith camptothecin increased phosphorylation ofAMP-dependent kinase (AMPK) and acetyl-coenzyme Acarboxylase, caused nuclear translocation and deacetylationof forkhead box O1 (FoxO1), increased transcriptionand protein expression of adipose triglyceride lipase(ATGL), decreased the amount of intracellular oil droplets,and significantly increased b-oxidation of fatty acids. These in vitro data were confirmed in vivo as camptothecintreatment of C57BL/6J mice reduced fat and plasmatriglyceride levels. All of the above camptothecin-inducedalterations were attenuated by the SIRT1-specific inhibitornicotinamide and/or 6-[4-(2-piperidin-1-ylethoxy) phenyl]-3-pyridin-4-ylpyrazolo [1,5-a]pyrimidin (compound C). Thus, camptothecin activation of SIRT1 promotes lipidcatabolism through AMPK/FoxO1/ATGL signaling.
Feng, Chen-Chen,Chen, Li-Na,Chen, Mei-Jun,Li, Wan,Jia, Xu,Zhou, Yan-Yan,He, Wei-Ming Asian Pacific Journal of Cancer Prevention 2014 Asian Pacific journal of cancer prevention Vol.15 No.8
Human mammary epithelial cells have different proliferative statuses and demonstrate a close relationship with age and cell proliferation. Research on this topic could help understand the occurrence, progression and prognosis of breast cancer. In this article, using significance analysis of a microarray algorithm, we analyzed gene expression profiles of human mammary epithelial cells of different proliferative statuses and different age groups. The results showed there were significant differences in gene expression in the same proliferation status between elderly and young groups. Three common differentially expressed genes were found to dynamically change with the proliferation status and to be closely related to tumorigenesis. We also found elderly group had less status-related differential genes from actively proliferating status to intermediate status and more statusrelated differential genes from intermediate status than the young group. Finally, functional enrichment analyses allowed evaluation of the detailed roles of these differentially-expressed genes in tumor progression.
Scalar Dyon Production In Near Extremal Kerr-Newman Black Holes
Chen, Chiang-Mei,Kim, Sang Pyo,Sun, Jia-Rui,Tang, Fu-Yi,Gwak, B.,Kang, G.,Kim, C.,Kim, H.-C.,Lee, C.-H.,Lee, J.,Lee, S.,Lee, W. EDP Sciences 2018 The European Physical Journal Conferences Vol.168 No.-
<P>The pair production of charged scalar dyons is analytically studied in near-extremal Kerr-Newman (KN) dyonic black holes. The pair production rate and its thermal interpretation are given. Moreover, the absorption cross section ratio has been compared with the two-point function of the conformal field theories (CFTs) holographically dual to the near horizon geometry, namely warped AdS3, of the near extremal Kerr-Newman black holes to verify the threefold dyonic KN/CFTs correspondence.</P>
Neural correlates of the popular music phenomenon: evidence from functional MRI and PET imaging
Chen, Qiaozhen,Zhang, Ying,Hou, Haifeng,Du, Fenglei,Wu, Shuang,Chen, Lin,Shen, Yehua,Chao, Fangfang,Chung, June-key,Zhang, Hong,Tian, Mei Springer-Verlag 2017 European journal of nuclear medicine and molecular Vol.44 No.6
<P>Popular music Gangnam Style can arouse pleasure experience and strong emotional response. The left putamen is positively correlated with the mood arousal level score under the Gangnam Style condition. Our results revealed characteristic patterns of brain activity associated with Gangnam Style, and may also provide more general insights into the music-induced emotional processing.</P>
Mei-Chen Lin,Ching-Wen Lou,Jan-Yi Lin,Ting An Lin,Shih-Peng Wen,Jia-Horng Lin 한국섬유공학회 2019 Fibers and polymers Vol.20 No.2
This study combines and twists 75D polyester (PET) multi-filaments and polylactic acid (PLA) multi-filaments with twist coefficients of 2, 3, 4, 5, and 6 to form 150D PET/PLA plied yarns. The 0.08-mm-diameter stainless steel (SS) fibers are made into SS braids with a 60-tooth braid gear and a take-up gear with 60, 70, 80, 90, or 100 teeth. PET/PLA plied yarn and SS braids are then combined and electrochemically treated with an electric current of 100, 200, 300, 400, or 500 mA at 60 ℃ for 24 hours, forming the PET/PLA/SS composite bone scaffolds. PET/PLA/SS composite bone scaffolds are observed by scanning electron microscope (SEM) and energy dispersive spectroscope (EDS), and tested for weight increase rate and biocompatibility. The experiment results show that the optimal twist coefficient for PET/PLA plied yarn is 4 and the optimal tooth number on the take-up gear for SS braids is 80. SEM observation result shows that hydroxyapatite (HA) deposits on the surface of PET/PLA/SS composite bone scaffolds and attaches to the PET/PLA plied yarns. Finally, regardless of electric currents, all PET/PLA/SS composite bone scaffolds possess good biocompatibility.