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A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree

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International Journal of Ophthalmology(English edition) 2015年第6期8卷 1112-1117页

作者： Qin-Kang Lu Na Zhao Ya-Su Lv Wei-Kun Gong Hui-Yun Wang Qi-Hu Tong Xiao-Ming Lai Rong-Rong Liu Ming-Yan fang Jian-Guo Zhang zhen-fang du Xian-Ning Zhang Ophthalmology Center Yinzhou People's Hospital Yinzhou Hospital Affiliated to Medical School of Ningbo University Department of Cell Biology and Medical Genetics Research Center for Molecular Medicine Institute of Cell BiologyZhejiang University School of Medicine BGI-Shenzhen

AIMTo identify the disease-causing gene mutation in a Chinese pedigree with autosomal dominant cone-rod dystrophy (adCORD).METHODSA southern Chinese adCORD pedigree including 9 affected individuals was studied. Whole-exome sequencing (WES), coupling the Agilent whole-exome capture system to the Illumina HiSeq 2000 DNA sequencing platform was used to search the specific gene mutation in 3 affected family members and 1 unaffected member. After a suggested variant was found through the data analysis, the putative mutation was validated by Sanger DNA sequencing of samples from all available family *** results of both WES and Sanger sequencing revealed a novel nonsense mutation c.C766T (p.Q256X) within exon 5 of CRX gene which was pathogenic for adCORD in this family. The mutation could affect photoreceptor-specific gene expression with a dominant-negative effect and resulted in loss of the OTX tail, thus the mutant protein occupies the CRX-binding site in target promoters without establishing an interaction and, consequently, may block *** modes of Mendelian inheritance in CORD have been observed, and genetic heterogeneity is a hallmark of CORD. Therefore, conventional genetic diagnosis of CORD would be time-consuming and labor-intensive. Our study indicated the robustness and cost-effectiveness of WES in the genetic diagnosis of CORD.

关键词： cone-rod dystrophy autosomal dominant cone-rod dystrophy whole-exome sequencing Sanger sequencing CRX gene mutation

p.N78S and p.R161Q germline mutations of the VHL gene caused von Hippel-Lindau syndrome in two southern Chinese pedigrees

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p.N78S and p.R161Q germline mutations of the VHL gene caused...

Prophylactic thyroidectomy for MEN 2-related medullary thyroid carcinoma based on predictive testing for RET proto-oncogene mutation and basal serum calcitonin in China

2013浙江省医学遗传学学术年会

作者： Xiao-Ping Qi Wen-Ting Liu Yan Zhao Ju-Ming Ma Jun Fei Feng Li Mao Shen Hang-Yang Jin zhen-Guang Chen zhen-fang du Xiao-Ling Chen Hu-Ling Jiang Xian-Ning Zhang Department of Oncologic Surgery Department of Urologic SurgeryClinical Experimental Centerand Department of PathologyThe 117th PLA Hospital Department of Biochemistry and Genetics National Education Base for Basic Medical SciencesInstitute of Cell BiologyZhejiang University School of Medicine

von Hippel-Lindau disease(VHL) is an autosomal dominant familial cancer *** is characterized by the development of renal cell carcinoma(RCC),haemangioblastomas of the central nervous system or retina and pheochromocytoma(PCC).RCC and PCC are known to be caused by germline mutations of six and ten genes,***,two unrelated southern Chinese pedigrees with type 2A and 2C VHL syndrome containing 30 individuals were *** were clinically examined and treated by radical nephrectomy(or nephron sparing surgery) and cortical-sparing adrenalectomy,and all members of the families underwent genetic *** members presented PCC and RCC from one family and three individuals who had only hypertension were diagnosed with PCC from another *** variants of the VHL gene,C.A233G(p.N78S) within exon 1 and C.G482A(p.R161Q) within exon 3,were verified *** was performed on all the patients except a 5-year-old p.N78S boy in Family 1 who had asymptomatic,as well as genetic testing and genetic *** future,we will go on following up the cases with a focus on blood pressure and health,although they have normal blood pressure and no local recurrence and distant metastasis of VHL so *** study suggests that molecular genetic testing is helpful in the diagnosis and clinical management of VHL syndrome.

关键词： pheochromocytoma renal cell carcinoma VHL gene von Hippel-Lindau syndrome

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Prophylactic thyroidectomy for MEN 2-related medullary thyro...

KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolytic palmoplantar keratoderma

2013浙江省医学遗传学学术年会

作者： Xiao-Ping Qi zhen-fang du Ju-Ming Ma Jun Fei Jun Cheng Jian-Shan Han Hang-Yang Jin zhen-Guang Chen Jin-Quan Wang Xiao-Ling Chen Wen-Ting Liu Yan Zhao Hu-Ling Jiang Xian-Ning Zhang Department of Oncologic Surgery Department of Urologic SurgeryClinical Experimental Centerand Department of PathologyThe 117th PLA Hospital Department of Biochemistry and Genetics National Education Base for Basic Medical SciencesInstitute of Cell BiologyZhejiang University School of Medicine

Introduction:Early and normative surgery is the only curative method for multiple endocrine neoplasia type 2(MEN 2)-related medullary thyroid carcinoma(MTC). Aims:To study the timing of prophylactic total thyroidectomy(TT) for MEN 2-related MTC with different RET mutations in a Chinese population,and to compare the sensitivity and accuracy of fully-automated chemiluminescence immunoassay(FACLIA) and radioimmunoassay(RIA) for serum calcitonin(Ct). Msthods:We collected 24 asymptomatic individuals from 8 unrelated Chinese families with MEN 2,and analyzed RET mutation and Ct *** we performed TT on 17 of the 24 individuals,including TT (2/17),TT with bilateral level VI lymph-node dissection(B-LND(VI);12/17) and TT with B-LND(VI) + modified unilateral/bilateral/local neck dissection(3/17). Results:Histopathology revealed bilateral/unilateral MTC in 15/17(88.2%;median diameter,1.0 cm) and bilateral C-cell hyperplasia in 2/17(11.8%;p.V292M/R67H/R982C and p.C618Y).Lymph-node metastasis/ fibro-adipose tissue invasion(p.C634R) or solely fibro-adipose tissue invasion(p.C634Y) were found in 2/ 17(11.8%).Elevated pre-surgical Ct(pre-Ct) was identified by FACLIA in 17/17(median age,24.0), while pre-Ct by RIA was found in only 6/15(P during which 16/17 had no abnormality(one p.C634R individual had elevated Ct),and another 7 carriers still had consistently undetectable Ct by FACLIA. Conclusions:Our study highlights the importance and feasibility of individualized prophylactic TT for MEN 2-related MTC,based on predictive integrated screening of RET and pre-Ct ***,we recommend FACLIA to measure Ct for earlier diagnosis,treatment and follow-up monitoring of MTC.

关键词： Prophylactic thyroidectomy Medullary thyroid carcinoma RET Mutation screening Serum calcitonin Fully-automated chemiluminescence immunoassay

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KRT9 gene mutation as a reliable indicator in the prenatal m...

2014浙江省医学会医学遗传学学术年会

作者： Hai-Ping Ke Hu-Ling Jiang Ya-Su Lv Yi-Zhou Huang Rong-Rong Liu Xiao-Ling Chen zhen-fang du Yu-Qin Luo Chen-Ming Xu Xian-Ning Zhang Department of Biology Ningbo College of Health Sciences Department of Cell Biology and Medical Genetics Research Center of Molecular MedicineNational Education Base for Basic Medical SciencesInstitute of Cell BiologyZhejiang University School of Medicine Key Laboratory of Reproductive Genetics(Zhejiang) Ministry of Educationand Centre of Reproductive MedicineWomen's HospitalZhejiang University School of Medicine

Objectives:Epidermolytic palmoplantar keratoderma(EPPK)is the most frequent form of *** is inherited in an autosomal dominant pattern and is clinically characterized by diffuse yellowish thickening of the skin on the palms and soles with erythematous borders during the first weeks or months after *** is generally caused by mutations of the KRT9 *** than 26 mutations of KRT9 responsible for EPPK have been described

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烧结断面图像分割方法的研究

微机发展 2004年第4期14卷 78-79页

作者：王培珍周芳杜培明安徽工业大学电气信息学院安徽马鞍山243002

利用图像分割技术,采用迭代的两级K＆I最小误差阈值分割算法,对烧结图像的背景和红火区及红火区和气孔区进行了自动分割。在VisualC++6.0软件开发平台上编程实现并与其它算法作了比较。实验结果表明:该方法分割速度快,程序简单,且具有... 详细信息

利用图像分割技术,采用迭代的两级K＆I最小误差阈值分割算法,对烧结图像的背景和红火区及红火区和气孔区进行了自动分割。在VisualC++6.0软件开发平台上编程实现并与其它算法作了比较。实验结果表明:该方法分割速度快,程序简单,且具有良好的分割效果,为图像特征提取和图像识别工作奠定了良好基础。

关键词：炼铁烧结质量烧结断面图像图像分割图像处理计算机

Modified state prediction algorithm based on UKF

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Journal of Systems Engineering and Electronics 2013年第1期24卷 135-140页

作者： zhen Luo Huajing fang Department of Control Science and Engineering Huazhong University of Science and Technology

The state prediction based on the unscented Kalman filter （UKF） for nonlinear stochastic discrete-time systems with linear measurement equation is investigated. Predicting future states by using the information of available measurements is an effective method to solve time delay problems. It not only helps the system operator to perform security analysis, but also allows more time for operator to take better decision in case of emergency. In addition, predictive state can make the system implement real-time monitoring and achieve good robustness. UKF has been popular in state prediction because of its advantages in handling nonlinear systems. However, the accuracy of prediction degrades notably once a filter uses a much longer future prediction. A confidence interval （Ci） is proposed to overcome the problem. The advantages of CI are that it provides the information about states coverage, which is useful for treatment-plan evaluation, and it can be directly used to specify the margin to accommodate prediction errors. Meanwhile, the CI of prediction errors can be used to correct the predictive state, and thereby it improves the prediction accuracy. Simulations are provided to demonstrate the effectiveness of the theoretical results.

关键词： unscented Kalman filter state prediction confidenceinterval Bonferroni interval.

Application and progress of the detection technologies in hepatocellular carcinoma

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Genes & Diseases 2023年第5期10卷 1857-1869页

作者： Qi Yan Yuan-song Sun Ran An fang Liu Qi fang zhen Wang Tao Xu Lijian Chen Jian du School of Basic Medical Sciences Anhui Medical UniversityHefeiAnhui 230032China Department of Emergency Surgery The Second Hospital of Anhui Medical UniversityHefeiAnhui 230032China Department of Anesthesiology The First Affiliated Hospital of Anhui Medical UniversityHefeiAnhui 230032China Inflammation and Immune Mediated Diseases Laboratory of Anhui Province Anhui Institute of Innovative DrugsSchool of PharmacyHefeiAnhui 230032China Institute for Liver Diseases of Anhui Medical University Anhui Medical UniversityHefeiAnhui 230032China

Hepatocellular carcinoma(HCC)has a very high incidence and fatality rate,and in most cases,it is already at an advanced stage when ***,early prevention and detection of HCC are two of the most effective ***,the methods recommended in the practice guidelines for the detection of HCC cannot guarantee high sensitivity and specificity except for the liver biopsy,which is known as the“gold standard”.In this review,we divided the detection of HCC into pre-treatment diagnosis and post-treatment monitoring,and found that in addition to the traditional imaging detection and liver biopsy,alpha fetoprotein(AFP),lens culinaris-agglutinin-reactive fraction of AFP(AFP-L3),protein induced by vitamin K absence or antagonist-II(PIVKA-II)and other biomarkers are excellent biomarkers for HCC,especially when they are combined *** notably,the emerging liquid biopsy shows great promise in detecting *** addition,lactic dehydrogenase(LDH),suppressor of cytokine signaling(SOCS)and other relevant biomarkers may become promising biomarkers for HCC post-treatment *** the detailed introduction of the diagnostic technology of HCC,we can have a detailed understanding of its development process and then obtain some enlightenment from the diagnosis,to improve the diagnostic rate of HCC and reduce its mortality.

关键词： HCC Invasive diagnosis Minimally invasive diagnosis Noninvasive diagnosis Prognostic monitoring

Ultralow operating voltage for energy conversion performance in Hf_(1-x)Zr_(x)O_(2) thin films

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Journal of Materiomics 2024年第6期10卷 1206-1213页

作者： Ying Hou Baoyuan Wang zhen Luo Xinzhe du Zijian Wang Yi fang Xiaoguang Li School of Physics East China University of Science and TechnologyShanghai200237China State Key Laboratory of Powder Metallurgy Central South UniversityChangsha410083China Hefei National Research Center for Physical Sciences at the Microscale Department of Physics and CAS Key Laboratory of Strongly-Coupled Quantum Matter PhysicsUniversity of Science and Technology of ChinaHefei230026China

Emerging ferroelectric and antiferroelectric HfO_(2)-based thin films are attractive candidates for energy conversion and storage applications. In this work, the polar phase transformation between tetragonal and orthorhombic phases associated with ferroelectric or antiferroelectric behaviors is utilized to manipulate the electrocaloric cooling and energy storage performances in Zr-doped, woken up HfO_(2) ultrathin films. A giant electrocaloric temperature change of up to 11.85 K in Hf_(0.5)Zr_(0.5)O_(2) with the morphotropic phase boundary (MPB) state and a high energy storage density of 39.34 J/cm^(3) in the tetragonal phase-dominant Hf0.25Zr0.75O2 system are obtained. More interestingly, contrary to overdoping and excessive electric fields, an appropriate Zr concentration of 0.5 and an applicable driving field of 1.91 MV/cm are desired for the electrocaloric effect, resulting in an ultralow operating voltage as low as 1.3 V in this 6.8 nm thick Hf_(0.5)Zr_(0.5)O_(2) film. These findings illustrate that the structural design strategy is a visible method for achieving optimal energy-related behaviors and highlight the great possibilities for building future energy-related devices.

关键词： HfO_(2)-based films Morphotropic phase boundary state Electrocaloric cooling Energy storage

Effect of noncovalent complexations on coordination interactions in a tricomponent system ofβ-cyclodextrin,copper chloride and hexamethylene tetramine

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Chinese Chemical Letters 2011年第11期22卷 1347-1350页

作者： Jing Yang Le Xin Song zheng Dang Shu zhen Pan fang Yun du Department of Chemistry University of Science and Technology of China Hefei 230026 China State Key Laboratory of Coordination Chemistry Nanjing University Nanjing 210093 China

This study reveals that the noncovalent complexation betweenβ-CD and Cu（HMTA）^（2＋） makes a positive contribution to the coordination interaction between Cu^（2＋） and HMTA in a tricomponent ***,mono- and binucl... 详细信息

关键词： Noncovalent complexation Coordination interaction β-Cyclodextrin Copper chloride