A Novel EYA1 Mutation Causing Alternative RNA Splicing in a Chinese Family With Branchio-Oto Syndrome: Implications for Molecular Diagnosis and Clinical Application

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.

Effect of Light with Different Wavelengths on Nostoc flagelliforme Cells in Liquid Culture

( Yu Jie Dai ),( Jing Li ),( Shu Mei Wei ),( Nan Chen ),( Yu Peng Xiao ),( Zhi Lei Tan ),( Shi Ru Jia ),( Nan Nan Yuan ),( Ning Tan ),( Yi Jie Song ) 한국미생물 · 생명공학회 2013 Journal of microbiology and biotechnology Vol.23 No.4

The effects of lights with different wavelengths on the growth and the yield of extracellular polysaccharides of Nostoc flagelliforme cells were investigated in a liquid cultivation. N. flagelliforme cells were cultured for 16 days in 500 ml conical flasks containing BG11 culture medium under 27 μmol·m-2·s-1 of light intensity and 25oC on a rotary shaker (140 rpm). The chlorophyll a, phycocyanin, allophycocyanin, and phycoerythrin contents in N. flagelliforme cells under the lights of different wavelengths were also measured. It was found that the cell biomass and the yield of polysaccharide changed with different wavelengths of light. The biomass and the yield of extracellular polysaccharides under the red or violet light were higher than those under other light colors. Chlorophyll a, phycocyanin, and allophycocyanin are the main pigments in N. flagelliforme cells. The results showed that N. flagelliforme, like other cyanobacteria, has the ability of adjusting the contents and relative ratio of its pigments with the light quality. As a conclusion, N. flagelliforme cells favor red and violet lights and perform the complementary chromatic adaptation ability to acclimate to the changes of the light quality in the environment.

Retrospective Study of Gemcitabine Based Chemotherapy for Unresectable or Recurrent Esophagus Squamous Cell Carcinoma Refractory to First Line Chemotherapy

Wang, Mei,Gu, Jun,Wang, Hai-Xing,Wu, Mei-Hong,Li, Yong-Mei,Wang, Ya-Jie Asian Pacific Journal of Cancer Prevention 2012 Asian Pacific journal of cancer prevention Vol.13 No.8

Purpose: To investigate the efficacy and toxicity of a combination of gemcitabine with nedaplatin (GN) or cisplatin (GC) for patients with unresectable or recurrent esophagus squamous cell carcinoma. Methods: Gemcitabine was administered at 1 g/m2 intravenously on days 1 and 8; and nedaplatin or cisplatin were administered at 80 mg/m2 intravenously on day 1. We analyzed the response rate, overall survival time, progression-free survival time, and toxicity in 21 patients treated with GN and 27 patients treated with GC. Results: In patients treated with gemcitabine plus nedaplatin, the ORR was 47.6%, the median progression-free survival time was 4.1 months, and the median survival time was 9.3 months. In patients treated with gemcitabine plus cisplatin, the ORR was 48.2%, the median progression-free survival time was 3.9 months, and the median survival time was 9.1 months, respectively. There were no statistically significant differences in ORR, PFS and OS between the two groups. In both, the most commonly observed toxicities were thrombocytopenia and fatigue. Nausea and vomiting was more frequent in the GC group than in the GN group. Conclusion: Gemcitabine based chemotherapy was effective and tolerable for patients with unresectable or recurrent esophagus squamous cell carcinoma refractory to first line chemotherapy.

ERG요인이 조직유효성에 미치는 영향에 대한 조절효과 연구 -한,중 아르바이트 대학생의 경우-

이매결 ( Mei Jie Li ),이금희 ( Jin Xi Michelle Li ),권순식 ( Soon Sik Kwon ) 한국인적자원관리학회 2015 인적자원관리연구 Vol.22 No.1

취업난, 소비욕구의 증가, 서비스업의 발달 등으로 인해 아르바이트를 하는 학생의 수가 대폭 증가하고있다. 하지만 이들은 열악한 근무환경과 저임금, 임금체불 및 학업과 일을 병행해야 하는 스트레스 등 많은 어려움을 겪고 있다. 본 연구는 아르바이트 대학생들의 직무태도나 행동(조직유효성)에 영향을 주는 요인들을 밝혀냄으로써 이들을 고용한 업체나 대학에 실무적 시사점을 제공하는데 목적이 있다. 본 연구에서는 한국학생과 중국학생 및 자발과 비자발 근로자에 따른 조직유효성의 차이를 알아보기 위해 인종과 자발성 요인의 조절효과를 분석하였다. 본 연구는 20명 정도의 아르바이트생들을 면담 조사한 결과에 기초해 연구대상을 가장 잘 반영하는 변수들을 선정하였으며, ERG이론을 이론적 틀로 한 분석모형을 구성하였다. 연구대상은 대학생 303명(한국학생 201명, 중국인 유학생 102명)이며 SPSS 21.0프로그램을 사용하여 위계적 회귀분석을 실시하였다. 분석 결과, 직무 자율성과 스케줄 조정 가능성은 모두 직무만족과 조직시민행동에 유의한 정(+)의 영향을, 상사와의 조화롭지 못한 관계는 직무만족과 조직시민행동에 모두 유의한 부(-)의 영향을 미쳤다. 또한 상사 및 고객과의 조화롭지 못한 관계 그리고 학업과의 역할갈등은 모두 이직의도에 유의한 정(+)의 영향을 미치는 것으로 나타났다. 한편 자발성 요인은 직무 자율성과 조직시민행동 간의 관계, 고객과의 관계와 조직시민행동 간의 관계, 스케줄 조정 가능성과 이직의도 간의관계 등에서 조절효과가 있는 것으로 나타났다. 즉 직무 자율성이 조직시민행동에 미치는 영향은 비자발적으로 아르바이트를 하는 학생이 자발적으로 아르바이트를 하는 학생보다 높게 나타났다. 그리고 고객과의 관계가 조직시민행동에 미치는 영향과 스케줄 조정 가능성이 이직의도에 미치는 영향 모두에서 자발적으로 아르바이트를 하는 학생이 비자발적으로 아르바이트를 하는 학생보다 높게 나타났다. 마지막으로, 인종은 스케줄 조정 가능성과 이직의도 간의 관계에서 조절작용을 하는 것으로 나타났다. 스케줄 조정가능성이 이직의도에 미치는 영향은 한국학생이 중국학생보다 높게 나타났다. An increasing number of college students are engaging in part time jobs because of the current unemployment crisis, increased desire of consumption and growth in the service industries. However, they have encountered many difficulties such as poor work environment, poor pay, and delay in payment of wages as well as stress from both work and study. This paper aims to identify the factors affecting their job attitudes and behaviors (organizational effectiveness) and thus to provide some practical guidelines for employers hiring them and universities where they study. The paper also aims to investigate the differences in job attitudes and behaviors of Korean and Chinese student workers as well as of voluntary and involuntary workers. Around 20 Korean and Chinese student workers were randomly selected for interview to select the variables that best represent the research context. The variables, duly sorted by different human needs under ERG theory, were assumed to predict their job attitudes and behaviors (organizational effectiveness), and included Job Autonomy, Schedule Flexibility, Relations with Supervisors, Relations with Customers, and Role Conflict for Study. The sample of our respondents was 303 Korean and Chinese student workers in G University in Korea: 201 Korean and 102 Chinese. We used SPSS 21.0 for statistical analysis. Our study reveals useful results for the development of theories and for organizational and welfare practices. First of all, Job Autonomy, Relations with Supervisors, and Schedule Flexibility have a significant effect on Job Satisfaction and Organizational Citizenship Behavior. It means employers should give student workers more job autonomy and allow them to be more flexible on their work schedule. Employers also need to maintain a harmonious relationship with student workers by avoiding verbal abuse, giving them more recognition, and trying to accept their good ideas. Secondly, Relations with Supervisors, Relations with Customers, and Role Conflict for Study have a significant effect on Turnover. It means universities should provide more scholarship or part-time jobs for students to help them overcome the problems of role conflict between work and study (on-campus jobs could reduce the role conflict because they normally have less of a work load than off-campus jobs). Besides, employers need to teach student workers how to maintain a harmonious relationship with their customers. Thirdly, Schedule Flexibility has a bigger effect on Turnover for voluntary workers (than involuntary workers) and Korean workers (than Chinese workers). It means ScheduleFlexibility is more important for voluntary workers and Korean workers. Therefore, employers should allow voluntary workers and Korean workers to be more flexible on their work schedule. Fourthly, Job Autonomy has a bigger effect on Organizational Citizenship Behavior for involuntary workers (than voluntary workers), and Relations with Customers has a bigger effect on voluntary workers (than involuntary workers). It means Job Autonomy is more important for involuntary workers and Relations with Customers is more important for voluntary workers. Therefore, employers should be more concerned about job autonomy of involuntary workers and should give them more job autonomy. Employers also need to take care of voluntary workers’ customer relationships and need to teach them how to deal with tricky customers. Lastly, workers with higher seniority tend to have more positive job attitudes and behaviors, and workers with older age tend to be more negative about their jobs. Therefore, hiring workers with more experience and younger age could improve organizational effectiveness. Future research needs to use different samples, such as student workers in other ethnic groups or in other countries as well as temporary workers or contract workers, to verify the research model in this study.

Involvement of Cdc25c in Cell Cycle Alteration of a Radioresistant Lung Cancer Cell Line Established with Fractionated Ionizing Radiation

Li, Jie,Yang, Chun-Xu,Mei, Zi-Jie,Chen, Jing,Zhang, Shi-Min,Sun, Shao-Xing,Zhou, Fu-Xiang,Zhou, Yun-Feng,Xie, Cong-Hua Asian Pacific Journal of Cancer Prevention 2013 Asian Pacific journal of cancer prevention Vol.14 No.10

Cancer patients often suffer from local tumor recurrence after radiation therapy. Cell cycling, an intricate sequence of events which guarantees high genomic fidelity, has been suggested to affect DNA damage responses and eventual radioresistant characteristics of cancer cells. Here, we established a radioresistant lung cancer cell line, A549R, by exposing the parental A549 cells to repeated ${\gamma}$-ray irradiation with a total dose of 60 Gy. The radiosensitivity of A549 and A549R was confirmed using colony formation assays. We then focused on examination of the cell cycle distribution between A549 and A549R and found that the proportion of cells in the radioresistant S phase increased, whereas that in the radiosensitive G1 phase decreased. When A549 and A549R cells were exposed to 4 Gy irradiation the total differences in cell cycle redistribution suggested that G2-M cell cycle arrest plays a predominant role in mediating radioresistance. In order to further explore the possible mechanisms behind the cell cycle related radioresistance, we examined the expression of Cdc25 proteins which orchestrate cell cycle transitions. The results showed that expression of Cdc25c increased accompanied by the decrease of Cdc25a and we proposed that the quantity of Cdc25c, rather than activated Cdc25c or Cdc25a, determines the radioresistance of cells.

Species Classification and Quality Assessment of Chaihu (Radix Bupleuri) Based on High-Performance Liquid Chromatographic Fingerprint and Combined Chemometrics Methods

Xiao-Jie Li,Jie Hu,Zhen-Yu Li,Xue-Mei Qin,Li-Zeng Zhang,Xiao-Qing Guo 대한약학회 2011 Archives of Pharmacal Research Vol.34 No.6

A high-performance liquid chromatographic (HPLC) method was established to analyze 36 Chaihu (Radix Bupleuri) samples collected from three species (Bupleurum chinense DC., B. scorzonerifolium Willd. and B. smithii Wolff.). Addition of trifluoroacetic acid into the mobile phase resulted in fingerprint chromatograms with stable baselines. There were thirty-two characteristic peaks in the standard fingerprint of B. chinense DC. Different recognition pattern methods, including similarity analysis (SA), hierarchical cluster analysis (HCA), principal component analysis (PCA) and partial least squares-discrimination analysis (PLS-DA) were utilized to analyze the 36 samples based on the contents of chemical constituents. Consistent results from SA, HCA and PCA analysis illustrated the rationalisation for why B. smithii Wolff. was not quoted in the Chinese Pharmacopoeia and classified samples were in agreement with their species. PLS-DA loading plots showed the chemical markers which had the most influences on the separation among different species. However, SA, HCA and PCA could not differentiate between wild and cultivated B. chinense DC. as well as between samples from different provinces. HPLC fingerprint in combination with chemometric techniques provided a very flexible and reliable method for homogeneity evaluation and quality assessment of traditional Chinese medicine.

Association Between the Ku70-1310C/G Promoter Polymorphism and Cancer Risk: a Meta-analysis

Xu, Lu,Ju, Xiao-Bing,Li, Pu,Wang, Jue,Shi, Zhu-Mei,Zheng, Ming-Jie,Xue, Dan-Dan,Xu, Yan-Jie,Yin, Yong-Mei,Wang, Shui,You, Yong-Ping Asian Pacific Journal of Cancer Prevention 2012 Asian Pacific journal of cancer prevention Vol.13 No.2

Ku70 plays an important role in DNA double-strand break repair. Studies revealing conflicting results on the role of the Ku70-1310C/G promoter polymorphism on cancer risk led us to perform a meta-analysis to investigate this relationship. Ten case-control studies with 2566 cases and 3058 controls were identified. Odds ratios (ORs) and 95% confidence intervals (CIs) were used to assess the strength of associations. The overall results suggested no association between the Ku70-1310C/G promoter polymorphism and total cancer risk. However, on stratified analysis, significantly increased risks were observed among the Asian population (GG vs. CC: OR=1.50, 95%CI=1.10-2.06; GG vs. CC/CG: OR=1.47, 95%CI=1.07-2.01) and population-based case-control studies (GG vs. CC: OR=1.57, 95%CI=1.12-2.22; CG vs. CC: OR=1.35, 95%CI=1.11-1.64; CG/GG vs. CC: OR=1.37, 95%CI=1.14-1.65). Additionally, variant genotypes were associated with a significantly increased breast cancer risk (GG vs. CC: OR=1.80, 95%CI=1.26-2.56; GG vs. CC/CG: OR=1.40, 95%CI=1.01-1.95).

A spatial vector projection based error sensitivity analysis method for industrial robots

Jie Li,Fugui Xie,Xin-Jun Liu,Bin Mei,Hongji Li 대한기계학회 2018 JOURNAL OF MECHANICAL SCIENCE AND TECHNOLOGY Vol.32 No.6

Precision design is an important approach to guarantee the accuracy of industrial robots, where error sensitivity analysis lays a vital foundation. Intuitively, if the pose error vector caused by one error component is nearly perpendicular to the sum vector that is caused by all error sources, this error component will have little influence on the accuracy of end-effector even though its norm is large. Unimportant errors may unreasonably be regarded as vital errors when their direction characteristics are ignored. In this paper, the local sensitivity index (LSI) is defined based on the projection theory of spatial vector to evaluate the contribution of an error component in a definite pose. Both the direction and norm characteristics of pose error vector are considered in the novel definition of LSI, which is quite different from the previous researches. According to the definition of expectation and variance, the average sensitivity indices (ASI) and variance sensitivity indices (VSI) of error sources are established. Finally, the precision design of a 6-DOF (degrees of freedom) industrial robot is conducted in numerical simulation based on the proposed error sensitivity analysis method. The results show that the pose accuracy of end-effector can greatly be increased by improving very few error components obtained via error sensitivity analysis. The proposed error sensitivity analysis method is quite effective, which can greatly improve precision design effects.

The complete mitochondrial genome sequence of the little grebe (Tachybaptus ruficollis)

Mei-dong Jing,Ling Huang,Yi-cheng Wang,Yi Zou,Xiao-min Sun,Jie Gong 한국유전학회 2017 Genes & Genomics Vol.39 No.1

Podicipediformes comprises one family (Podicipedidae) including 6 genera, 22 species, and the phylogenetic placement of this order was still in debate. In this study, we sequenced the complete mitochondrial genome (mitogenome) of little grebe (Tachybaptus ruficollis) in Podicipediformes, and explored the phylogenetic position of this order with mitogenome sequences of 21 species from ten families in seven orders. The genome was 16,688 bp in length, and contained 37 genes typical to avian mitogenomes and one control region. The gene organization and characters were similar with other two mitogenomes available in Podicipediformes to date. Phylogenetic tree was constructed with Bayesian method based on mitogenome sequences excluding the control regions. The results supported the closest relationship between Podicipediformes and Phoenicopteriformes, and the topology of our tree was generally similar with the conclusions of previous molecular systematic investigations. Our results furtherly proved the validity of mitogenome data in taxonomic and phylogenetic studies.

Carbon dioxide hydrogenation to methanol over multi-functional catalyst: Effects of reactants adsorption and metal-oxide(s) interfacial area

Mei Kee Koh,Yee Jie Wong,Siang-Piao Chai,Abdul Rahman Mohamed 한국공업화학회 2018 Journal of Industrial and Engineering Chemistry Vol.62 No.-

Copper-based catalysts with different metal-oxide(s) composition were synthesized and applied in CO2 hydrogenation to methanol. The metal component(s) (Cu, Zn and/or Mn) were dispersed on high surface area SBA-15. Correlations between the adsorption properties of catalysts and the catalytic performances reveal that a catalyst with both strong hydrogenation strength and moderate CO2 adsorption strength is crucial for achieving high CO2 conversion. Additionally, the availability of metal-oxide(s) interfacial area greatly enhances methanol selectivity. An adequate balance between H2 and CO2 adsorptions as well as metal-oxide(s) interfacial area were responsible for the high catalytic activity achieved in this study.