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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.
Fabrication of a Biodegradable Multi-layered Polyvinyl Alcohol Stent
Mei-Chen Lin,Ching-Wen Lou,Jan-Yi Lin,Ting An Lin,Yueh-Sheng Chen,Jia-Horng Lin 한국섬유공학회 2018 Fibers and polymers Vol.19 No.8
This study aims to develop biodegradable vascular stents that prevent permanent damage caused by rejection of the immune system of the human body. Polyvinyl alcohol (PVA) yarns are twisted to enhance their strength. The twisted yarns are braided and then coated with chitosan (CS). The CS-coated PVA vascular stents are chemically crosslinked with genipin (GP) to improve their flexibility and biodegradability. Their morphological characteristics are also observed using a stereoscopic microscope, and their properties are evaluated through scanning electron microscopy, Fourier transform infrared, bending test, biodegradability test, drug release measurement, and MTT assay. Results reveal that wet PVA-CS-GP vascular stents coated with multiple CS layers can maintain a tubular structure when they are bent. After crosslinking is performed, the compressive strength of the PVA-CS-GP stents is 17.04 times higher than that of pure PVA. The weight loss rate of the PVA-CS-GP vascular stents as <3 % after 30 days. The PVA-CS-GP vascular stents composed of 0.10 % heparin sodium show a good drug release effect. Biological activity test indicates that these stents exhibit good proliferation, and our structural model verifies that they are good vascular stents.
Chen, Qing-Wei,Zhang, Xiao-Mei,Zhou, Jian-Nong,Zhou, Xin,Ma, Guo-Jian,Zhu, Ming,Zhang, Yuan-Ying,Yu, Jun,Feng, Ji-Feng,Chen, Sen-Qing Asian Pacific Journal of Cancer Prevention 2015 Asian Pacific journal of cancer prevention Vol.16 No.12
Background: : Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disease mainly caused by mutations of the adenomatous polyposis coli (APC) gene with almost complete penetrance. These colorectal polyps are precancerous lesions that will inevitable develop into colorectal cancer at the median age of 40-year old if total proctocolectomy is not performed. So identification of APC germline mutations has great implications for genetic counseling and management of FAP patients. In this study, we screened APC germline mutations in Chinese FAP patients, in order to find novel mutations and the APC gene germline mutation characteristics of Chinese FAP patients. Materials and Methods: The FAP patients were diagnosed by clinical manifestations, family histories, endoscope and biopsy. Then patients peripheral blood samples were collected, afterwards, genomic DNA was extracted. The mutation analysis of the APC gene was conducted by direct polymerase chain reaction (PCR) sequencing for micromutations and multiplex ligation-dependent probe amplification (MLPA) for large duplications and/or deletions. Results: We found 6 micromutations out of 14 FAP pedigrees, while there were no large duplications and/or deletions found. These germline mutations are c.5432C>T(p. Ser1811Leu), two c.3926_3930delAAAAG (p.Glu1309AspfsX4), c.3921_3924delAAAA (p.Ile1307MetfsX13), c3184_3187delCAAA(p.Gln1061AspfsX59) and c4127_4126delAT (p.Tyr1376LysfsX9), respectively, and all deletion mutations resulted in a premature stop codon. At the same time, we found c.3921_3924delAAAA and two c.3926_3930delAAAAG are located in AAAAG short tandem repeats, c3184_3187delCAAA is located in the CAAA interrupted direct repeats, and c4127_4128 del AT is located in the 5'-CCTGAACA-3', 3'-ACAAGTCC-5 palindromes (inverted repeats) of the APC gene. Furthermore, deletion mutations are mostly located at condon 1309. Conclusions: Though there were no novel mutations found as the pathogenic gene of FAP in this study, we found nucleotide sequence containing short tandem repeats and palindromes (inverted repeats), especially the 5 bp base deletion at codon 1309, are mutations in high incidence area in APC gene,.
Chen, Mei-Hua Institute for Corpus Research 2021 Asia pacific journal of corpus research Vol.2 No.1
Recently, corpus assisted vocabulary instruction has been attracting a lot of interest. Most studies have focused on understanding language learners' receptive vocabulary knowledge. Limited attention has been paid to learners' productive competence. To fill this gap, this study attended to learners' productive lexical development in terms of form, meaning and use respectively. This study introduced EFL learners to the corpus-based language pedagogy to learn COVID-19 theme-based vocabulary. To investigate the gains and views of 33 EFL first-year college students, a sentence completion task and a questionnaire were developed. Learners' productive performances in the three lexical knowledge aspects (i.e., form, meaning and use) were particularly targeted. The results revealed that the students achieved significant gains in all aspects regardless of their proficiency level. In particular, the less proficient students achieved greater knowledge retention compared with their highly proficient counterparts. Meanwhile, students showed positive attitudes towards the corpus-based approach to vocabulary learning.
Mei-Fang Chen,Yuan Yuan Zhang,Mei Di He,Cheng Yong Li,Chun Xia Zhou,Peng Zhi Hong,Zhong-Ji Qian 한국생물공학회 2019 Biotechnology and Bioprocess Engineering Vol.24 No.2
Marine microalgae have been widely applied in cosmaceuticals, nutraceuticals, and functional foods. In the present study, we first investigated the hepatoprotective effects of peptide purified from microalgae, Isochrysis zhanjiangensis on HepG2 cells alcoholic injury. I. zhanjiangensis was hydrolyzed utilizing chymotrypsin, trypsin, pepsin, and by vitro gastrointestinal digestion. Among hydrolysates, the gastrointestinal hydrolysate showed relatively high free radical scavenging ability preliminarily and was purified with following sequential chromatography methods. The amino acid sequence and molecular mass of the purified peptide from I. zhanjiangensis (PIZ) was identified as Asn-Asp-Ala-Glu-Tyr-Gly-Ile-Cys-Gly-Phe (NDAEYGICGF; MW, 1088.16 Da) via Q-TOF ESI/MS. Additionally, PIZ attenuated ethanol-induced cytotoxicity and inhibited the production of intracellular reactive oxygen species by DCFH-DA assay. Western blot results showed that superoxide dismutase (SOD) and glutathione (GSH) levels up-regulated with PIZ treatment before alcohol exposure while gamma-glutamyltransferase (GGT) protein expression down-regulated. These results provide an opportunity to discover new highly active peptide against alcohol toxicity in HepG2 cells.