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.

이광수의 '무정'과 장한수의 '제소인연' 비교연구

장춘매(Zhang, Chun-Mei) 한국문학회 2010 韓國文學論叢 Vol.56 No.-

20세기 초에 유가사상에 젖어 있었던 중한 양국은 서구문화의 영향으로 근대화로 진입하기 시작했다. 중한 양국 근대과도기의 연애와 혼인에 관한 인식을 밝히기 위해 본고는 한국 작가 이광수의 <무정>과 중국 작가 장한수의 <제소인연>을 비교했다. 두 작품은 모두 당대 사람들에게 익숙하지 않은 자유연애 이야기를 서술하고 있다. 본고는 이 두 작품을 주제, 인물, 서사법 등 여러 측면에서 비교하여 그 공통점과 차이점을 찾아낼 뿐만 아니라 작가 이광수와 장한수가 자유연애에 대해 주장하는 관점도 규명했다. 그리고 주제와 문체의 차원에서 두 작품이 전통문학을 계승하면서 개혁해 나아가는 측면도 고찰하였다. As the twentieth century began, both Korea and China featured with the traditional Confucianism started towards modern societies thanks to the influence of western culture. To expound the general viewpoints of the two countries on marriage at the transitional time, the paper is intended to make a comparative study of two works--Mu Jeong by Korean writer Lee Kwang-soo and Ti xiao yin yuan by Chinese writer Zhang Hen-shui. The two works both tell stories about people’s freedom to choose their spouses--a new concept unfamiliar to peoples at that time in both countries. The paper is designed to seek out the differences and similarities between the two novels from the aspects of themes, characterizations, and narrative methods and is an attempt to make a study of the propositions of both Lee Kwang-soo and Zhang Hen-shui on the freedom to choose one's spouse. Besides, the paper is also an effort to study what the two writers inherit from their respective traditional literatures and what is invented by the two.

Soy Protein Supplementation Reduces Clinical Indices in Type 2 Diabetes and Metabolic Syndrome

Xi-Mei Zhang,Yun-Bo Zhang,Mei-Hua Chi 연세대학교의과대학 2016 Yonsei medical journal Vol.57 No.3

Purpose: Clinical trials have studied the use of soy protein for treating type 2 diabetes (T2D) and metabolic syndrome (MS). The purpose of this study was to outline evidence on the effects of soy protein supplementation on clinical indices in T2D and MS subjects by performing a meta-analysis of randomized controlled trials (RCTs). Materials and Methods: We searched PubMed, EMBASE, and Cochrane databases up to March 2015 for RCTs. Pooled estimates and 95% confidence intervals (CIs) were calculated by the fixed-and-random-effects model. A total of eleven studies with eleven clinical variables met the inclusion criteria. Results: The meta-analysis showed that fasting plasma glucose (FPG) [weighted mean difference (WMD), -0.207; 95% CI, -0.374 to -0.040; p=0.015], fasting serum insulin (FSI) (WMD, -0.292; 95% CI, -0.496 to -0.088; p=0.005), homeostasis model of assessmentfor insulin resistance index (HOMA-IR) (WMD, -0.346; 95% CI, -0.570 to -0.123; p=0.002), diastolic blood pressure (DBP) (WMD, -0.230; 95% CI, -0.441 to -0.019; p=0.033), low-density lipoprotein cholesterol (LDL-C) (WMD, -0.304; 95% CI, -0.461 to -0.148; p=0.000), total cholesterol (TC) (WMD, -0.386; 95% CI, -0.548 to -0.225; p=0.000), and C-reactive protein (CRP) (WMD, -0.510; 95% CI, -0.722 to -0.299; p=0.000) are significant reduced with soy protein supplementation, compared with a placebo control group, in T2D and MS patients. Furthermore, soy protein supplementation for longer duration (≥6 mo) significantly reducedFPG, LDL-C, and CRP, while that for a shorter duration (<6 mo) significantly reduced FSI and HOMA-IR. Conclusion: Soy protein supplementation could be beneficial for FPG, FSI, HOMA-IR, DBP, LDL-C, TC, and CRP control in plasma.

Differences in the biological properties of mesenchymal stromal cells from traumatic temporomandibular joint fibrous and bony ankylosis: a comparative study

Zhang Pei-Pei,Liang Su-Xia,Wang Hua-Lun,Yang Kun,Nie Shao-Chen,Zhang Tong-Mei,Tian Yuan-Yuan,Xu Zhao-Yuan,Chen Wei,Yan Ying-Bin 한국통합생물학회 2021 Animal cells and systems Vol.25 No.5

The aim of this study was to compare the functional characteristics of mesenchymal stromal cells (MSCs) from a sheep model of traumatic temporomandibular joint (TMJ) fibrous and bony ankylosis. A sheep model of bilateral TMJ trauma-induced fibrous ankylosis on one side and bony ankylosis on the contralateral side was used. MSCs from fibrous ankylosed callus (FAMSCs) or bony ankylosed callus (BA-MSCs) at weeks 1, 2, 4, and 8 after surgery were isolated and cultured. MSCs derived from the bone marrow of the mandibular condyle (BM-MSCs) were used as controls. The MSCs from the different sources were characterized morphologically, phenotypically, and functionally. Adherence and trilineage differentiation potential were presented in the ovine MSCs. These cell populations highly positively expressed MSC-associated specific markers, namely CD29, CD44, and CD166, but lacked CD31 and CD45 expressions. The BA-MSCs had higher clonogenic and proliferative potentials than the FA-MSCs. The BA-MSCs also showed higher osteogenic and chondrogenic potentials, but lower adipogenic capacity than the FA-MSCs. In addition, the BA-MSCs demonstrated higher chondrogenic, but lower osteogenic capacity than the BM-MSCs. Our study suggests that inhibition of the osteogenic and chondrogenic differentiations of MSCs might be a promising strategy for preventing bony ankylosis in the future.

從《淸文指要》看淸代北方話口語詞

( Mei Lan Zhang ),( Man Liu ) 서강대학교 언어정보연구소 2014 언어와 정보 사회 Vol.22 No.-

Language & Information Society 22. Qingwen Zhiyao(100 chapters) of several editions during its spread, had significant influence on foreigners’ compiling Chinese textbooks, with many different adaptations as a result. This paper reveals some features of spoken words of Northern Chinese in the end of Qing dynasty based on the textual differences of seven adaptations of Qingwen Zhiyao during several decades.

Effect of proton irradiation on interfacial and electrical performance of N+Np+ InP/InGaAs hetero-junction

Zhang Chen,Su Yongbo,Mei Bo,Yang Feng,Zhang Jialin,Yun Huanqing,Liu Bo,Sun Yi,Zhang Haiming,Jin Zhi,Zhong Yinghui 한국물리학회 2023 Current Applied Physics Vol.48 No.-

InP-based hetero-junction bipolar transistors (HBTs) are attractive for various millimeter-wave and terahertz electronics due to their ultrahigh frequency performance. Therefore, the study of their irradiation reliability is extremely urgent. In this work, 2 MeV proton irradiation experiment has been carried out on self-fabricated N+Np+ InP/InGaAs hetero-junction. The degradation mechanisms have systematically been studied after exposure to protons of 5 × 1013 H+/cm2. The voltage range of recombination current at low forward bias has been largely expanded from 0-0.2 V to 0–0.6 V. Furthermore, the interface states properties have been characterized by utilizing the frequency-dependent conductance technique, the interface states density (Dit) has increased from approximately 9.02 × 1012 cm-2 eV-1–1.99 × 1013 cm-2 eV-1 to 9.51 × 1012 cm-2 eV-1–2.00 × 1013 cm-2 eV-1 after irradiation. The study would be great significance for understanding the evolution of proton irradiation on relative devices.

Lack of Mutagenicity Potential of Periploca sepium Bge. in Bacterial Reverse Mutation (Ames) Test, Chromosomal Aberration and Micronucleus Test in Mice

Mei-Shu Zhang,In-Seok Bang,Cheol Beom Park 환경독성보건학회 2012 환경독성보건학회지 Vol.27 No.-

Objectives: The root barks of Periploca sepium Bge. (P. sepium) has been used in traditional Chinese medicine for healing wounds and treating rheumatoid arthritis. However, toxicity in high-doses was often diagnosed by the presence of many glycosides. The potential mutagenicity of P. sepium was investigated both in vitro and in vivo. Methods: This was examined by the bacterial reverse mutation (Ames) test using Escherichia coli WP2uvrA and Salmonella typhimurium strains, such as TA98, TA100, TA1535, and TA1537. Chromosomal aberrations were investigated using Chinese hamster lung cells, and the micronucleus test using mice. Results: P. sepium did not induce mutagenicity in the bacterial test or chromosomal aberrations in Chinese hamster lung cells, although metabolic activation and micronucleated polychromatic erythrocytes were seen in the mice bone marrow cells. Conclusions: Considering these results, it is suggested that P. sepium does not have mutagenic potential under the conditions examined in each study.

Segmentation for Range Image Based on Snake Active Contour Model

Zhang Mei,Wen Jing Hua,Peng Xing Xing 보안공학연구지원센터 2016 International Journal of Signal Processing, Image Vol.9 No.8

Range image segmentation is one of the most common problem in the field of computer vision. In view of the defect about traditional range image segmentation methods, this paper introduces a new range image segmentation method based on snake active contour model (SCAM). First, this paper expresses the snake active contour model in the form of parameters, and illustrates the contour line data points inside and outside of the movement and pseudo code description of the motion of a point algorithm; then constructs energy function, pushing the Euler equation and discretization; finally gets the results by Cholesky decomposition. Numerical experiment results show that the method is accurate and efficient, of good effect and the segmentation results are consistent with human subjective visual perception.

Tax is Involved in Up-regulation of HMGB1 Expression Levels by Interaction with C/EBP

Zhang, Chen-Guang,Wang, Hui,Niu, Zhi-Guo,Zhang, Jing-Jing,Yin, Ming-Mei,Gao, Zhi-Tao,Hu, Li-Hua Asian Pacific Journal of Cancer Prevention 2013 Asian Pacific journal of cancer prevention Vol.14 No.1

The high mobility group box 1 (HMGB1) protein is a multifunctional cytokine-like molecule that plays an important role in the pathogenesis of tumors. In this study, real-time polymerase chain reactions and Western blot assays indicated that HMGB1 transcriptional activity and protein level are increased in $Tax^+$-T cells (TaxP). To clarify the mechanisms, a series of HMGB1 deletion reporter plasmids (pHLuc1 to pHLuc6) were transfected into $Tax^-$-T cells (TaxN, Jurkat) and $Tax^+$-T cells (TaxP). We found that promoter activity in $Tax^+$-T cells to be higher than that in $Tax^-$-T cells, indicating a significant increase in pHLuc6. Bay11-7082 (NF-${\kappa}B$ inhibitor) treatment did not block the enhancing effect. Chromatin immunoprecipitation assays revealed that Tax was retained on a HMGB1 promoter fragment encompassing -1163 to -975. Bioinformatics analysis showed six characteristic cis-elements for CdxA, AP-1, AML-1a, USF, v-Myb, and C/EBP in the fragment in question. Mutation of cis-elements for C/EBP reduced significant HMGB1 promoter activity induced by Tax. These findings indicate that Tax enhances the expression of HMGB1 gene at the transcriptional level, possibly by interacting with C/EBP.

Characterization of Marinilongibacter aquaticus gen. nov., sp. nov., a unique marine bacterium harboring four CRISPR-Cas systems in the phylum Bacteroidota

Zhang Dao-Feng,Yao Yu-Fang,Xue Hua-Peng,Fu Zi-Yue,Zhang Xiao-Mei,Shao Zongze 한국미생물학회 2022 The journal of microbiology Vol.60 No.9

A novel bacterium, designated YYF0007T, was isolated from an agar-degrading co-culture. The strain was found harboring four CRISPR-Cas systems of two classes in the chromosome and subsequently subjected to a study on polyphasic taxonomy. Pairwise analyses of the 16S rRNA gene sequences indicated that strain YYF0007T had highest 16S rRNA gene sequence similarity (92.2%) to Jiulongibacter sediminis JN- 14-9T. The phylogenomic trees based on the 16S rRNA gene and 269 single-copy orthologous gene clusters (OCs) indicated that strain YYF0007T should be recognized as a novel genus of the family Spirosomaceae. The cells were Gramstain- negative, nonmotile, strictly aerobic, and straight long rods with no flagellum. Optimum growth occurred at 28°C and pH 7.0 with the presence of NaCl concentration 1.0–3.0% (w/v). The strain showed oxidase and catalase activities. The major fatty acids were C16:1ω5c, iso-C15:0 and summed feature 3 (C16:1 ω7c and/or C16:1 ω6c). The predominant isoprenoid quinone was MK-7. The complete genome size was 4.64 Mb with a DNA G + C content of 44.4%. Further typing of CRISPR-Cas systems in the family Spirosomaceae and the phylum Bacteroidota indicated that it was remarkable for strain YYF0007T featured by such a set of CRISPR-Cas systems. This trait highlights the applications of strain YYF- 0007T in studies on the evolutionary dynamics and bacterial autoimmunity of CRISPR-Cas system as a potential model. The name Marinilongibacter aquaticus gen. nov., sp. nov. is proposed, and the type strain is YYF0007T (= MCCC 1K06017T = GDMCC 1.2428T = JCM 34683T).