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A rare missense PAX6 mutation causes atypical aniridia in a three-generation Chinese family

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International Journal of Ophthalmology(English edition) 2024年第3期17卷 466-472页

作者： Zhi-Bo Lin Chun-Yun Feng Jin Li An-Peng Pan Hai-Sen Sun A-Yong Yu Shi-Hao Chen National Clinical Research Center for Ocular Diseases Eye HospitalWenzhou Medical UniversityWenzhou 325027Zhejiang ProvinceChina Department of Ophthalmology the Quzhou Affiliated Hospital of Wenzhou Medical UniversityQuzhou People’s HospitalQuzhou 324000Zhejiang ProvinceChina

●AIM:To investigate the molecular diagnosis of a threegeneration Chinese family affected with aniridia,and further to identify clinically a PAX6 missense mutation in members with atypical aniridia.●METHODS:Eleven family members with and without atypical aniridia were recruited.All family members underwent comprehensive ophthalmic examinations.A combination of whole exome sequencing(WES)and direct Sanger sequencing were performed to uncover the causative mutation.●RESULTS:Among the 11 family members,8 were clinically diagnosed with congenital aniridia(atypical aniridia phenotype).A rare heterozygous mutation c.622C>T(p.Arg208Trp)in exon 8 of PAX6 was identified in all affected family members but not in the unaffected members or in healthy control subjects.●CONCLUSION:A rare missense mutation in the PAX6 gene is found in members of a three-generation Chinese family with congenital atypical aniridia.This result contributes to an increase in the phenotypic spectrum caused by PAX6 missense heterozygous variants and provides useful information for the clinical diagnosis of atypical aniridia,which may also contribute to genetic counselling and family planning.

关键词： PAX6 gene atypical aniridia missense mutation mutation

Hi-TOM 2.0:an improved platform for high-throughput mutation detection

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Science China(Life Sciences) 2024年第7期67卷 1532-1534页

作者： Tingting Sun Qing Liu Xi Chen Fengyue Hu Kejian Wang State Key Laboratory of Rice Biology and Breeding China National Rice Research InstituteChinese Academy of Agricultural SciencesHangzhou 310006China Hainan Seed Industry Laboratory Sanya 572025China

Dear Editor,CRISPR/Cas systems,which can create novel mutations by manipulating the genome or transcriptome,have been developed as a powerful molecular tool for gene editing in various organisms(Cheng et al.,2022;Gao,2021).However,identifying mutations in large samples and decoding chimeric mutations are time-consuming,labor-intensive.

关键词： CRISPR/Cas consuming mutation

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mutation trend of hemagglutinin of influenza A virus: a review from a computational mutation viewpoint

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Acta Pharmacologica Sinica 2006年第5期27卷 513-526页

作者： Guang WU~1 Shao-min YAN Computational mutation Project.DreamSciTech Consulting,301.Building 12.Nanyou A-zone,Jiannan Road.Shenzhen 518054,China Computational mutation Project DreamSciTech Consulting 301 Building 12 Nanyou A-zone Jiannan Road Shenzhen 518054 China. hongguanglishibahao@***

Since 1999 we have developed two computational mutation approaches to ana-lyze the protein primary structure whose methodology and implications were re-viewed in 2002.Our first approach is the calculation of predictable and unpredict-able portions of amino-acid pairs in a protein,and the second is the calculation ofamino-acid distribution rank in a protein.Both approaches provide quantitativemeasures to present a protein,which we have used to study a number of proteinswith numerous mutations such as p53 proteins.More recently,we focussed ourefforts on analyzing the proteins mutating frequently over time such as hemagglu-tinins of influenza A viruses.In this review we summarise our findings and theirimplications for hemagglutinin mutations in combination with some newly avail-able data.Our approaches throw light on the true nature of genetic heterogeneityof influenza virus hemagglutinins;that is,the protein variability is highly relevantto its amino-acid construction.Using these approaches,we can monitor newmutations from influenza virus hemagglutinins and may predict their mutations inthe future.

关键词： amino acid sequence hemagglutinins influenza A virus mutation probability

C634Y mutation in RET-induced multiple endocrine neoplasia type 2A:A case report

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World Journal of Clinical Cases 2024年第15期12卷 2627-2635页

作者： Hui-Fen Zhang Shu-Ling Huang Wen-Li Wang Yu-Qing Zhou Jun Jiang Zhuo-Jin Dai Department of Endocrinology Dongguan Hospital of Guangzhou University of Chinese MedicineDongguan 523003Guangdong ProvinceChina Department of Science and Technology Services Beijing Macro and Micro Test Co.Ltd.Beijing 100318China The First Clinical Medical College Guangdong Medical UniversityZhanjiang 524023Guangdong ProvinceChina

BACKGROUND Multiple endocrine neoplasia type 2(MEN2)is a rare,autosomal dominant endocrine disease.Currently,the RET proto-oncogene is the only gene implicated in MEN2A pathogenesis.Once an RET carrier is detected,family members should be screened to enable early detection of medullary thyroid carcinoma,pheochromocytoma,and hyperparatitity.Among these,medullary thyroid carcinoma is the main factor responsible for patient mortality.Accordingly,delineating strategies to inform clinical follow-up and treatment plans based on genes is paramount for clinical practitioners.CASE SUMMARY Herein,we present RET proto-oncogene mutations,clinical characteristics,and treatment strategies in a family with MEN2A.A family study was conducted on patients diagnosed with MEN2A.DNA was extracted from the peripheral blood of family members,and first-generation exon sequencing of the RET protooncogene was conducted.The C634Y mutation was identified in three family members spanning three generations.Two patients were sequentially diagnosed with pheochromocytomas and bilateral medullary thyroid carcinomas.A 9-yearold child harboring the gene mutation was diagnosed with medullary thyroid carcinoma.Surgical resection of the tumors was performed.All family members were advised to undergo complete genetic testing related to the C634Y mutation,and the corresponding treatments administered based on test results and associated clinical guidelines.CONCLUSION Advancements in MEN2A research are important for familial management,assessment of medullary thyroid cancer invasive risk,and deciding surgical timing.

关键词： Multiple endocrine neoplasia type 2A mutation RET proto-oncogene Medullary thyroid carcinoma Pheochromocytoma Case report

Early embryonic failure caused by a novel mutation in the TUBB8 gene:A case report

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World Journal of Clinical Cases 2024年第12期12卷 2092-2098页

作者： Xiao-Yu Zhang Xing-Xing Zhang Lei Wang Department of Reproductive Center Zaozhuang Maternal and Child Healthcare HospitalZaozhuang 277000Shandong ProvinceChina

BACKGROUND This study aimed to explore the relationship between gene mutations and early embryonic development arrest and to provide more possibilities for the diagnosis and treatment of repeated implantation failure.CASE SUMMARY Here,we collected and described the clinical data of a patient with early embryonic development stagnation after repeated in vitro fertilization attempts for primary infertility at the Department Reproductive Center of Zaozhuang Maternal and Child Healthcare Hospital.We also detected the whole-exon gene of the patient's spouse and parents,and conducted bioinformatics analysis to determine the pathogenesis of the gene.CONCLUSION A novel mutant of the TUBB8 gene[c.602G>T(p.C201F)]was identified,and this mutant provided new data on the genotype-phenotype relationships of related diseases.

关键词： Genes mutation Embryonic development Fertilization in vitro Intracytoplasmic sperm injection Case report

Global status and trends in hepatitis B virus DNA mutation research from 2003 to 2022:A comprehensive bibliometric view

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Portal Hypertension & Cirrhosis 2024年第1期3卷 14-21页

作者： Ming Li Xiaoming Xu Yong Liu Minxin Mao Yu Geng Shengxia Yin Xin Tong Chao Wu Jie Li Department of Infectious Diseases Nanjing Drum Tower Hospital Clinical College of Nanjing University of Chinese MedicineNanjingJiangsuChina Department of Infectious Diseases Nanjing Drum Tower HospitalAffiliated Hospital of Medical SchoolNanjing UniversityNanjingJiangsuChina Department of Laboratory Medicine Nanjing Drum Tower HospitalAffiliated Hospital of Medical SchoolNanjing UniversityNanjingJiangsuChina Institute of Viruses and Infectious Diseases Nanjing UniversityNanjingJiangsuChina

Aims:Hepatitis B virus(HBV)is an enveloped DNA virus belonging to the Hepadnaviridae family.It is a significant contributor to the prevalence of chronic liver disease on a global scale.mutations in HBV DNA can affect the diagnosis,treatment,and prognosis of patients with chronic hepatitis B.Although numerous studies on HBV DNA mutations have been conducted,few bibliometric studies have been performed to date.This study aimed to analyze changes in scientific output to gain a better understanding of the current research status and identify potential new research directions in the field of HBV DNA mutation.Methods:Relevant studies published between 2003 and 2022 were retrieved from the Web of Science Core Collection database.CiteSpace version 6.1.R6 was used to construct network maps to evaluate collaborations among countries,institutions,authors,journals,and keywords.Results:In total,1508 publications over the past 20 years were obtained,mainly from China,the United States,and Japan.The major research institutions in China included the University of Hong Kong,Fudan University,and Peking University.Lai Ching Lung was the most productive author,whereas Anna Suk-Fong Lok was the most frequently co-cited author.The keyword“HBsAg”was the strongest burst keyword in recent years,indicating possible future study trends.Conclusions:This bibliometric analysis intuitively revealed the overall research status of HBV DNA mutations,providing valuable information for researchers,funding agencies,and policymakers to explore the current research status,research hotspots,and new directions for future research.

关键词： bibliometrics DNA hepatitis B virus mutation

mutations and intron polymorphisms in voltage-gated sodium channel genes of different geographic populations of Culex pipiens pallens/ Culex pipiens quinquefasciatus in China

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贫困所致传染病(英文) 2024年第2期13卷 1-11页

作者： Li Wenyu Ma Delong Mu Qunzheng Zhou Xinxin Hua Dongdong Zhao Chunchun Liu Qiyong Wang Jun Meng Fengxia State Key Laboratory of Infectious Disease Prevention and Control Department of Vector Biology and Control National Institute for Communicable Disease Control and Prevention Chinese Center for Disease Control and Prevention WHO Collaborating Centre for Vector Surveillance and Management Beijing People’s Republic of China Ningxia Center for Disease Prevention and Control YinChuan NingXia People’s Republic of China Jinan Shizhong Center for Disease Control and Prevention Jinan Shandong China Vanke School of Public Health Tsinghua University Beijing People’s Republic of China Weifang No. People’s Hospital Weifang Shandong People’s Republic of China Beijing Daxing Center for Disease Control and Prevention Beijing People’s Republic of China Jinan Second Maternal and Child Health Hospital Jinan Shandong China

Background Culex pipiens pallens andCulex pipiens quinquefasciatus are the dominant species ofCulex mosquitoes in China and important disease vectors. Long-term use of insecticides can cause mutations in the voltage-gated sodium channel (vgsc) gene of mosquitoes, but little is known about the current status and evolutionary origins ofvgsc gene in different geographic populations. Therefore, this study aimed to determine the current status ofvgsc genes inCx. p. pallens andCx. p. quinquefasciatus in China and to investigate the evolutionary inheritance of neighboring downstream introns of thevgsc gene to determine the impact of insecticides on long-term evolution.Methods Sampling was conducted from July to September 2021 in representative habitats of 22 provincial-level administrative divisions in China. Genomic DNA was extracted from 1308 mosquitoes, the IIS6 fragment of thevgsc gene on the nerve cell membrane was amplified using polymerase chain reaction, and the sequence was used to evaluate allele frequency and knockdown resistance (kdr) frequency. MEGA 11 was used to construct neighborjoining (NJ) tree. PopART was used to build a TCS network.Results There were 6 alleles and 6 genotypes at the L1014 locus, which included the wild-type alleles TTA/L and CTA/L and the mutant alleles TTT/F, TTC/F, TCT/S and TCA/S. The geographic populations with akdr frequency less than 20.00% were mainly concentrated in the regions north of 38° N, and the geographic populations with akdr frequency greater than 80.00% were concentrated in the regions south of 30° N.kdr frequency increased with decreasing latitude. And within the same latitude, the frequency ofkdr in large cities is relatively high. mutations were correlated with the number of introns. The mutant allele TCA/S has only one intron, the mutant allele TTT/F has three introns, and the wild-type allele TTA/L has 17 introns.Conclusions Cx. p. pallens andCx. p. quinquefasciatus have developed resistance to insecticides in most regions of China. The neighboring downstream i

关键词： Culex pipiens pallens Culex pipiens quinquefasciatus vgsc gene mutation Frequency Intron Haplotype China

CRISPR/Cas9 system and its applications in nervous system diseases

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Genes & Diseases 2024年第2期11卷 675-686页

作者： Haibin Jiang Mengyan Tang Zidi Xu Yanan Wang Mopu Li Shuyin Zheng Jianghu Zhu Zhenlang Lin Min Zhang The Second School of Medicine Wenzhou Medical UniversityWenzhouZhejiang 325035China The First School of Medicine Wenzhou Medical UniversityWenzhouZhejiang 325035China Department of Pediatrics The Second School of MedicineThe Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical UniversityWenzhouZhejiang 325027China Key Laboratory of Perinatal Medicine of Wenzhou WenzhouZhejiang 325027China Key Laboratory of Structural Malformations in Children of Zhejiang Province WenzhouZhejiang 325000China Zhejiang Provincial Clinical Research Center for Pediatric Disease WenzhouZhejiang 325027China

The clustered regularly interspaced short palindromic repeats(CRISPR)/CRISPR-associated protein 9(Cas9)system is an acquired immune system of many bacteria and archaea,comprising CRISPR loci,Cas genes,and its associated proteins.This system can recognize exogenous DNA and utilize the Cas9 protein's nuclease activity to break DNA double-strand and to achieve base insertion or deletion by subsequent DNA repair.In recent years,multiple laboratory and clinical studies have revealed the therapeutic role of the CRISPR/Cas9 system in neurological diseases.This article reviews the CRISPR/Cas9-mediated gene editing technology and its potential for clinical application against neurological diseases.

关键词： CRISPR/Cas9 Gene editing mutation Neurological diseases Therapeutics

Detection of Novel BEST1 Variations in Autosomal Recessive Bestrophinopathy Using Third-generation Sequencing

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Current Medical Science 2024年第2期44卷 419-425页

作者： Jia-xun LI Ling-rui MENG Bao-ke HOU Xiao-lu HAO Da-jiang WANG Ling-hui QU Zhao-hui LI Lei ZHANG Xin JIN Department of Senior Ophthalmology the Third Medical Center of PLA General HospitalBeijing 100853China Department of Ophthalmology the 74th Army Group HospitalGuangzhou 510318China

Objective:Autosomal recessive bestrophinopathy(ARB),a retinal degenerative disease,is characterized by central visual loss,yellowish multifocal diffuse subretinal deposits,and a dramatic decrease in the light peak on electrooculogram.The potential pathogenic mechanism involves mutations in the BEST1 gene,which encodes Ca2+-activated Cl−channels in the retinal pigment epithelium(RPE),resulting in degeneration of RPE and photoreceptor.In this study,the complete clinical characteristics of two Chinese ARB families were summarized.Methods:Pacific Biosciences(PacBio)single-molecule real-time(SMRT)sequencing was performed on the probands to screen for disease-causing gene mutations,and Sanger sequencing was applied to validate variants in the patients and their family members.Results:Two novel mutations,c.202T>C(chr11:61722628,p.Y68H)and c.867+97G>A,in the BEST1 gene were identified in the two Chinese ARB families.The novel missense mutation BEST1 c.202T>C(p.Y68H)resulted in the substitution of tyrosine with histidine in the N-terminal region of transmembrane domain 2 of bestrophin-1.Another novel variant,BEST1 c.867+97G>A(chr11:61725867),located in intron 7,might be considered a regulatory variant that changes allele-specific binding affinity based on motifs of important transcriptional regulators.Conclusion:Our findings represent the first use of third-generation sequencing(TGS)to identify novel BEST1 mutations in patients with ARB,indicating that TGS can be a more accurate and efficient tool for identifying mutations in specific genes.The novel variants identified further broaden the mutation spectrum of BEST1 in the Chinese population.

关键词： autosomal recessive bestrophinopathy BEST1 gene third-generation sequencing mutation