检索结果-南通市图书馆

Mutation analysis of PAX6 gene in a large Chinese family with aniridia

在线全文

同方期刊数据库

学校读者我要写书评

暂无评论

Chinese Medical Journal 2005年第4期118卷 302-306页

作者： SONG Shu-juan LIU Ying-zhi CONG Ri-chang JIN Ying HOU Zhi-qiang MA Zhi-zhong REN Guo-cheng LI Ling-song Peking University Stem Cell Research Center Beijing 100083China Central hospital of chaoyang City Chaoyang 122000China third hospital Eye Center Peking UniversityBeijing 100083China

Background Mutations in PAX6 gene have been shown to be the genetic cause of aniridia, which is a severe panocular eye disease characterised by iris hypoplasia. However, there is no study to do genetic analysis of aniridia, although there are several case reports in China. Here, we describe a mutation analysis of PAX6 in a large Chinese family with aniridia. Methods Genomic DNA from venous blood samples was prepared. Haplotype analysis was performed with two genetic markers ( D11S904 and D11S935). Fourteen exons of the PAX6 gene were amplified from genomic DNA. Polymerase chain reaction ( PCR) products of each exon were analysed by single strand conformational polymorphism (SSCP). The PCR products having an abnormal pattern were sequenced to confirm the mutation. Results Significant evidence for allele sharing in affected patients was detected suggesting that PAX6 mutation links to aniridia in this family. An extra band corresponding to exon 9 in PAX6 was found by single strand conformational polymorphism analysis in all the aniridia patients in this family, but not detected in the unaffected members. A mutation of C to T was detected by sequencing at the nucleotide 1080 that converts the Arg codon (CGA) to the termination codon (TGA). Conclusions Aniridia is caused by a nonsense mutation of PAX6 gene in the large Chinese kindred. Genetic test is important to prevent the transmission of aniridia to their offsprings in the kindred by prenatal diagnosis.

关键词： aniridia PAX6 gene mutation analysis

Targeting epigenetic and posttranslational modifications regulating ferroptosis for the treatment of diseases

在线全文

学校读者我要写书评

暂无评论

Signal Transduction and Targeted Therapy 2024年第1期9卷 105-149页

作者： Yumin Wang Jing Hu Shuang Wu Joshua S.Fleishman Yulin Li Yinshi Xu Wailong Zou Jinhua Wang Yukuan Feng Jichao Chen Hongquan Wang Department of Respiratory and Critical Care Medicine Aerospace Center HospitalPeking University Aerospace School of Clinical MedicineBeijing 100049PR China Department of Pathogen Biology School of Basic Medical SciencesTianjin Medical UniversityTianjin 300060PR China Department of Neurology Zhongnan Hospital of Wuhan UniversityWuhan 430000PR China Department of Pharmaceutical Sciences College of Pharmacy and Health SciencesSt.John’s UniversityQueensNY 11439USA Department of Outpatient Aerospace Center HospitalPeking University Aerospace School of Clinical MedicineBeijing 100049PR China beijing Key Laboratory of Drug Target and Screening Research Institute of Materia MedicaChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100050PR China Department of Pancreatic Cancer Tianjin Medical University Cancer Institute and HospitalNational Clinical Research Center for CancerTianjin’s Clinical Research Center for CancerKey Laboratory of Cancer Prevention and TherapyTianjin 300060PR China

Ferroptosis,a unique modality of cell death with mechanistic and morphological differences from other cell death modes,plays a pivotal role in regulating tumorigenesis and offers a new opportunity for modulating anticancer drug *** epigenetic modifications and posttranslational modifications(PTMs)promote anticancer drug resistance,cancer progression,and *** studies indicate that epigenetic modifications can transcriptionally and translationally determine cancer cell vulnerability to ferroptosis and that ferroptosis functions as a driver in nervous system diseases(NSDs),cardiovascular diseases(CVDs),liver diseases,lung diseases,and kidney *** this review,we first summarize the core molecular mechanisms of ***,the roles of epigenetic processes,including histone PTMs,DNA methylation,and noncoding RNA regulation and PTMs,such as phosphorylation,ubiquitination,SUMOylation,acetylation,methylation,and ADP-ribosylation,are concisely *** roles of epigenetic modifications and PTMs in ferroptosis regulation in the genesis of diseases,including cancers,NSD,CVDs,liver diseases,lung diseases,and kidney diseases,as well as the application of epigenetic and PTM modulators in the therapy of these diseases,are then discussed in *** the mechanisms of ferroptosis regulation mediated by epigenetic modifications and PTMs in cancer and other diseases will facilitate the development of promising combination therapeutic regimens containing epigenetic or PTM-targeting agents and ferroptosis inducers that can be used to overcome chemotherapeutic resistance in cancer and could be used to prevent other *** addition,these mechanisms highlight potential therapeutic approaches to overcome chemoresistance in cancer or halt the genesis of other diseases.

关键词： diseases epigenetic overcome

Change of serum B-cell activating factor level in patients with positive antiphospholipid antibodies and previous adverse pregnancy outcomes and its significance

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Chinese Medical Journal 2020年第19期133卷 2287-2294页

作者： Xin-Yi Li Hong-Ji Duan Xiang-Yuan Liu Xiao-Li Deng Department of Rheumatology and Immunology Peking University Third HospitalHaidian DistrictBeijing 100191China

Background:B-cell activating factor(BAFF)is vital for B cell *** BAFF levels are elevated in thrombotic antiphospholipid syndrome,but little is known about levels in patients with positive antiphospholipid antibodies(aPLs)and previous adverse pregnancy outcomes(APOs).We aimed to analyze serum BAFF concentrations of these patients in early pregnancy along with different pregnancy ***:Thirty-six pregnant patients positive for aPLs and previous APOs(patient group),25 healthy pregnant females(HP group)and 35 healthy non-pregnant females(HNP group)from the Peking University third hospital,between October 2018 and March 2019,were enrolled in this *** of HNP and serum of patients as well as HP in the first gestational trimester were ***-linked immunosorbent assay kits were used to measure serum BAFF and interferon-alpha(IFN-a)*** bead array analysis was used to measure serum concentrations of *** patient group was further divided into APOs and non-APOs(NAPOs)group,fetal loss and live birth group according to pregnancy *** Mann-Whitney U-test was used to assess significance between and within *** rank-order was used to evaluate correlation coefficients between BAFF and related ***:The serum BAFF level in HP group was significantly lower than HNP group(245.24[218.80,265.90]vs.326.94[267.31,414.80]pg/mL,Z=-3.966,P<0.001).The BAFF level was obviously elevated in patient group compared to that in HP group(307.77[219.86,415.65]vs.245.24[218.80,265.90]pg/mL,Z=-2.464,P=0.013).BAFF levels in APOs group tended to be higher than that in NAPOs group(416.52[307.07,511.12]vs.259.37[203.59,375.81]pg/mL,Z=-2.718,P=0.006).Compared to HP group,concentrations of IFN-a,interleukin(IL-6)and tumor necrosis factor were higher in patient group(33.37[18.85,48.12]vs.13.10[6.85,25.47]pg/mL,Z=-2.023,P=0.043;39.16[4.41,195.87]vs.3.37[2.92,3.90]pg/mL,Z=-3.650,P<0.001;8.23[2.27,64.46]vs.1.53[1

关键词： Antiphospholipid syndrome B-cell activating factor Cytokine Inflammation Obstetrics

Clinical experience of liver transplantation in the treatment of peliosis hepatis

在线全文

学校读者我要写书评

暂无评论

Hepatobiliary & Pancreatic Diseases International 2022年第1期21卷 83-85页

作者： Yang Zhao Yu Liu Lin Zhou Xin-Xue Zhang Ping Li Qiang He Department of Hepatobiliary Surgery Beijing Chaoyang HospitalCapital Medical UniversityNo.8Gongtinan RoadChaoyang DistrictBeijing 100020China

To the Editor:Peliosis hepatis(PH)is an uncommon benign vascular disorder characterized by widespread blood-filled cysts in the *** dis-ease was first described by Wagner in 1861,and because the liver lesions were generally red or blue-purple,it was first named PH by Schoenlack in 1916[1].The etiology of PH is not completely clear now,which is mainly related to drug factors,immune fac-tors,and *** diagnosis of PH is difficult because of the lack of specific clinical manifestations and imaging features.

关键词： diagnosis liver lesions

Deceased donor liver transplantation for Budd–Chiari syndrome:Long-segmental thrombosis of the inferior vena cava with extensive collateral circulation

在线全文

学校读者我要写书评

暂无评论

Hepatobiliary & Pancreatic Diseases International 2020年第3期19卷 288-290页

作者： Zi-Xi Liu Ji-Qiao Zhu Jun Ma Jian-Tao Kou Xian-Liang Li Qiang He Department of Hepatobiliary and Pancreaticosplenic Surgery Beijing Chaoyang HospitalCapital Medical UniversityNo.8 Gongtinan RoadChaoyang DistrictBeijing 100020China

Budd–Chiari syndrome(BCS)is an infrequent clinical disease resulting from obstruction of the hepatic venous outflow tract anywhere from small hepatic veins to the inferior vena cava(IVC)[1].Currently,step-wise treatment strategy has been proposed and widely adopted based on the patient's status,which contains anticoagulation,thrombolysis,percutaneous recanalization,transjugular intrahepatic portosystemic shunt(TIPS)and surgical shunt[2].

关键词： Chiari hepatic vena

Celecoxib enhances the response of tumor cells to cisplatin through upregulating PUMA in non–small cell lung cancer carrying wild-type p53

在线全文

学校读者我要写书评

暂无评论

Oncology and Translational Medicine 2024年第2期10卷 79-86页

作者： Yuxuan Xiao Ziyu Wang Meng Gu Jinjing Tan Weiying Li Cancer Research Center Beijing Chest HospitalCapital Medical UniversityBeijing Tuberculosis and Thoracic Tumor Research InstituteBeijingChina

Celecoxib,a cyclooxygenase-2 inhibitor,can enhance the efficacy of chemotherapy;however,its effect seems *** this study,we investigated whether celecoxib would increase the antiproliferative effects of cisplatin in human lung cancer *** data demonstrated the synergistic effects of celecoxib with cisplatin in wild-type p53 cells and their antagonistic effects inmutated or deleted p53 *** indices of 0.82 to 0.93 reflected a synergistic effect between celecoxib and cisplatin in lung cancer cells with wild-type *** indices of 1.63 to 3.00 reflected antagonism between celecoxib and cisplatin in lung cancer cells with mutated or deleted *** with that in cells with mutated or deleted p53,apoptosis significantly increased with the addition of celecoxib and cisplatin in wild-type p53 cells(P<0.05).Moreover,the results in vivo were similar to those in vitro:celecoxib combinedwith cisplatin slowed tumor growth in wild-type p53 groups and not in mutated or deleted p53 *** addition,celecoxib promoted p53 translocation into the nucleus and upregulated active p53 expression in wild-type p53 *** combined with cisplatin upregulated PUMA(PUMA is a downstream gene of p53)after active p53 increased in wild-type p53 *** summary,the combination of celecoxib and cisplatin demonstrates clear synergistic effects in wild-type p53 cells and antagonistic effects inmutated or deleted p53 *** synergistic effect was achieved by apoptosis,induced by upregulating *** results will provide a new treatment strategy for patients carrying wild-type p53,insensitive to cisplatin.

关键词： p53 Celecoxib Cisplatin Non-small cell lung cancer PUMA

IJABE is a fast-growing peer-reviewed OA journal Updated Introduction to IJABE

在线全文

学校读者我要写书评

暂无评论

International Journal of Agricultural and Biological Engineering 2015年第2期8卷 161-162页

作者： Yingkuan W. No.41 Maizidian Street Chaoyang District Beijing 100125 China

International Journal of Agricultural and Biological Engineering(IJABE,***)is a peer reviewed open access international ***,started in 2008,is a joint publication co-sponsored by US-based Association of Agricultural,Biological and Food Engineers(AOCABFE)and China-based Chinese Society of Agricultural Engineering(CSAE).The ISSN 1934-6344 and eISSN 1934-6352 numbers for both print and online IJABE have been registered in ***,***.&***(IJABE)is published in both online and print version.

关键词： journal IJABE registered

IJABE is a fast-growing peer-reviewed OA journal Updated Introduction to IJABE in 2013

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

International Journal of Agricultural and Biological Engineering 2014年第2期7卷 116-117页

作者： Wang Yingkuan Maizidian Street Chaoyang DistrictBeijing 100125China

关键词： journal IJABE registered

Associations of sleeping patterns and isotemporal substitution of other behavior with the prevalence of CKD in Chinese adults

在线全文

学校读者我要写书评

暂无评论

Frontiers of Medicine 2024年第2期18卷 303-314页

作者： Yi Ding Xiaoli Xu Zhuojun Xin Qiuyu Cao Jiaojiao Huang Xianglin Wu Yanan Huo Qin Wan Yingfen Qin Ruying Hu Lixin Shi Qing Su Xuefeng Yu Li Yan Guijun Qin Xulei Tang Gang Chen Min Xu Tiange Wang Zhiyun Zhao Zhengnan Gao Guixia Wang Feixia Shen Zuojie Luo Li Chen Qiang Li Zhen Ye Yinfei Zhang Chao Liu Youmin Wang Tao Yang Huacong Deng Lulu Chen Tianshu Zeng Jiajun Zhao Yiming Mu Shengli Wu Yuhong Chen Jieli Lu Weiqing Wang Guang Ning Yu Xu Yufang Bi Mian Li Department of Endocrine and Metabolic Diseases Shanghai Institute of Endocrine and Metabolic DiseasesRuijin HospitalShanghai Jiao Tong University School of MedicineShanghai200025China Shanghai National Clinical Research Center for Metabolic Diseases Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of ChinaShanghai Key Laboratory for Endocrine TumorState Key Laboratory of Medical GenomicsRuijin HospitalShanghai Jiao Tong University School of MedicineShanghai200025China Jiangxi Provincial People’s hospital Affiliated to Nanchang UniversityNanchang330000China Department of Endocrinology The Affiliated Hospital of Southwest Medical UniversityLuzhou646000China Department of Endocrinology The First Affiliated Hospital of Guangxi Medical UniversityNanning530000China Zhejiang Provincial Center for Disease Control and Prevention Hangzhou310000China Department of Endocrinology Affiliated Hospital of Guiyang Medical UniversityGuiyang550000China Xinhua hospital Affiliated to Shanghai Jiao Tong University School of MedicineShanghai200000China Tongji hospital Tongji Medical CollegeHuazhong University of Science and TechnologyWuhan430000China Sun Yat-sen Memorial hospital Sun Yat-sen UniversityGuangzhou510000China Department of Endocrinology The First Affiliated Hospital of Zhengzhou UniversityZhengzhou450000China Department of Endocrinology The First Hospital of Lanzhou UniversityLanzhou730000China Fujian Provincial hospital Fujian Medical UniversityFuzhou350000China Dalian Municipal Central hospital Affiliated of Dalian Medical UniversityDalian116000China Department of Endocrinology The First Hospital of Jilin UniversityChangchun130000China Department of Endocrinology The First Affiliated Hospital of Wenzhou Medical UniversityWenzhou325000China Qilu hospital of Shandong University Jinan250000China Department of Endocrinology The Second Affiliated Hospital of Harbin Medical UniversityHarbin150000China Department of Endocrinology Cen

Studies have found a U-shaped relationship between sleep duration and chronic kidney disease(CKD)risk,but limited research evaluated the association of reallocating excessive sleep to other behavior with *** included 104538 participants from the nationwide cohort of the Risk Evaluation of Cancers in Chinese Diabetic Individuals:A Longitudinal Study,with self-reported time of daily-life *** isotemporal substitution models,we found that substituting 1 h of sleeping with sitting,walking,or moderate-to-vigorous physical activity was associated with a lower CKD ***-time physical activity displacement was associated with a greater prevalence reduction than occupational physical activity in working *** stratified analysis,a lower CKD prevalence related to substitution toward physical activity was found in long *** pronounced correlations were observed in long sleepers with diabetes than in those with prediabetes,and they benefited from other behavior substitutions toward a more active *** U-shaped association between sleep duration and CKD prevalence implied the potential effects of insufficient and excessive sleep on the kidneys,in which the pernicious link with oversleep could be reversed by time reallocation to physical *** divergence in the predicted effect on CKD following time reallocation to behavior of different domains and intensities and in subpopulations with diverse metabolic statuses underlined the importance of optimizing sleeping patterns and adjusting integral behavioral composition.

关键词： sleep physical activity chronic kidney disease isotemporal substitution behavioral pattern