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The fibrillin-1/VEGFR2/STAT2 signaling axis promotes chemoresistance via modulating glycolysis and angiogenesis in ovarian cancer organoids and cells

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Cancer Communications 2022年第3期42卷 245-265页

作者： Ziliang Wang Wei Chen Ling Zuo Midie Xu Yong Wu Jiami Huang Xu Zhang Yongheng Li Jing Wang Jing Chen Husheng Wang Huizhen Sun Department of Obstetrics and Gynecology Xinhua Hospital Affiliated to Shanghai Jiaotong University School of MedicineShanghai 200092P.R.China Institute of Cancer Research and Department of Gynecology Shanghai Municipal Hospital of Traditional Chinese MedicineShanghai University of Traditional Chinese MedicineShanghai 200071P.R.China Department of Reproductive Medicine Center Zhongshan HospitalFudan UniversityShanghai 200032P.R.China Department of Pathology and Biobank Fudan University Shanghai Cancer CenterShanghai 200032P.R.China Department of Gynecological Oncology Fudan University Shanghai Cancer CenterShanghai 200032P.R.China

Background:Chemotherapy resistance is a primary reason of ovarian cancer therapy failure;hence it is important to investigate the underlying mechanisms of chemotherapy resistance and develop novel potential therapeutic ***:RNA sequencing of cisplatin-resistant and sensitive(chemoresis-tant and chemosensitive,respectively)ovarian cancer organoids was performed,followed by detection of the expression level of fibrillin-1(FBN1)in organoids and clinical specimens of ovarian ***,glucose metabolism,angiogenesis,and chemosensitivity were analyzed in structural glycoprotein FBNl-knockout cisplatin-resistant ovarian cancer organoids and cell *** gain insights into the specific functions and mechanisms of action of FBN1 in ovarian cancer,immunoprecipitation,silver nitrate staining,mass spectrometry,immunofluorescence,Western blotting,and Forister resonance energy transfer-fluorescence lifetime imaging analyses were performed,followed by in vivo assays using vertebrate model systems of nude mice and ***:FBN1 expression was significantly enhanced in cisplatin-resistant ovar-ian cancer organoids and tissues,indicating that FBNI might be a key factor in chemoresistance of ovarian *** also discovered that FBN1 sustained the energy stress and induced angiogenesis in vitro and in vivo,which promoted the cisplatin-resistance of ovarian *** of FBN1 combined with treat-ment of the antiangiogenic drug apatinib improved the cisplatin-sensitivity of ovarian cancer ***,FBN1 mediated the phosphorylation of vascular endothelial growth factor receptor 2(VEGFR2)at the Tyrl054 residue,which activated its downstream focal adhesion kinase(FAK)/protein kinase B(PKB or AKT)pathway,induced the phosphorylation of signal transducer and activator of transcription 2(STAT2)at the tyrosine residue 690(Tyr690),pro-moted the nuclear translocation of STAT2,and ultimately altered the expression of genes associated with STAT2-me

关键词： angiogenesis chemoresistance fibrillin-1 glycolysis organoid ovariancancer STAT2 VEGFR

Knockdown of fibrillin-1 suppresses retina-blood barrier dysfunction by inhibiting vascular endothelial apoptosis under diabetic conditions

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International Journal of Ophthalmology(English edition) 2024年第8期17卷 1403-1410页

作者： Yue Zhang Xiao-Jing Liu Xin-Ran Zhai Yao Yao Bin Shao Yu-Han Zhen Xin Zhang Zhe Xiao Li-Fang Wang Ming-Lian Zhang Zhi-Min Chen Hebei Eye Hospital Provincial Key Laboratory of OphthalmologyHebei Provincial Clinical Research Center for Eye DiseasesXingtai 054001Hebei ProvinceChina Department of Ophthalmology Hebei Medical UniversityShijiazhuang 050011Hebei ProvinceChina

AIM:To investigate the effects of fibrillin-1(FBN1)deletion on the integrity of retina-blood barrier function and the apoptosis of vascular endothelial cells under diabetic ***:Streptozotocin(STZ)-induced diabetic mice were used to simulate the diabetic conditions of diabetic retinopathy(DR)patients,and FBN1 expression was detected in retinas from STZ-diabetic mice and *** the Gene Expression Omnibus(GEO)database,the GSE60436 dataset was selected to analyze FBN1 expressions in fibrovascular membranes from DR *** lentivirus to knock down FBN1 levels,vascular leakage and endothelial barrier integrity were detected by Evans blue vascular permeability assay,fluorescein fundus angiography(FFA)and immunofluorescence labeled with tight junction marker in *** glucose-induced monkey retinal vascular endothelial cells(RF/6A)were used to investigate effects of FBN1 on the cells in *** vascular endothelial barrier integrity and apoptosis were detected by trans-endothelial electrical resistance(TEER)assay and flow cytometry,***:FBN1 mRNA expression was increased in retinas of STZ-induced diabetic mice and fibrovascular membranes of DR patients(GSE60436 datasets)using RNA-seq ***,knocking down of FBN1 by lentivirus intravitreal injection significantly inhibited the vascular leakage compared to STZ-DR group by Evans blue vascular permeability assay and FFA *** of tight junction markers in STZ-DR mouse retinas were lower than those in the control group,and knocking down of FBN1 increased the tight junction *** vitro,30 mmol/L glucose could significantly inhibit viability of RF/6A cells,and FBN1 mRNA expression was increased under 30 mmol/L glucose ***-regulation of FBN1 reduced high glucose(HG)-stimulated retinal microvascular endothelial cell permeability,increased TEER,and inhibited RF/6A cell apoptosis in ***:The expression level of FBN1 increases in reti

关键词： diabetic retinopathy fibrillin-1 retinablood barrier vascular leakage vascular permeability apoptosis retinal vascular endothelial cells

Identification of a fibrillin-1 gene mutation in a Chinese Marfan syndrome family

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中国循环杂志 2018年第S1期33卷 140-141页

作者： Peng Fan Sufang Hao Kunqi Yang Peipei Lu Ying Zhang Xu Meng Xianliang Zhou Department of Cardiology National Center for Cardiovascular DiseasesFuwai HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijingChina

Background and Objective Marfan syndrome,a variable and heritable disorder of fibrous connective tissue,characterized by affecting skeletal,ocular and cardiovascular *** the research advancement of genetic mechanism,the diagnosis of Marfan syndrome,based on clinical manifestations and genetic evidence,is more *** aim of this study is identification of genetic pathogenesis in a Chinese family.

关键词： fibrillin-1 gene mutation Chinese Marfan syndrome family genetic pathogenesis

A novel mutation in FBN1 gene in autosomal dominant Marfan syndrome and macular degeneration in a Chinese consanguineous family

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International Journal of Ophthalmology(English edition) 2019年第5期12卷 725-730页

作者： Ping-Bo Ouyang Yuan Zhao Ying-Qian Peng Lu-Si Zhang Jian Cao Yun Li Department of Ophthalmology the Second Xiangya Hospital of Central South University Hunan Clinical Research Center of Ophthalmic Disease Department of Cardiovascular Surgery the Second Xiangya Hospital of Central South University

AIM: To report a novel mutation in FBN1 gene in a Chinese consanguineous family with common Marfan syndrome(MFS) phenotype and an unusual bilateral macular degeneration. METHODS: Ophthalmic, cardiovascular and systemic examinations were performed, and genomic DNA extracted from all living family members. The 24-32 exon mutations of FBN1 gene were screened by Sanger Sequencing in all family members and 100 unrelated healthy Chinese individuals. RESULTS: In the four-generation family, classic MFS phenotypes were observed in all 5 patients, 2 of them had peculiar phenotype of bilateral macular degeneration. Mutation screening in FBN1 identified a heterozygous missense mutation(c.3932 A>G, p.Y1311 C) with co-segregation. This mutation was found with the MFS phenotypes in all 5 patients but not in unaffected members or unrelated controls. CONCLUSION: A Chinese consanguineous MFS family with uncommon bilateral macular degeneration and an unreported c.3932 A>G mutation in FBN1 was identified. Our finding expands the FBN1 mutation spectrum and its possible role in the pathogenesis of Marfan syndrome.

关键词： Marfan syndrome fibrillin-1 autosomal dominant heterozygous mutation

Mutation analysis of FBN1 gene in two Chinese families with congenital ectopia lentis in northern China

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International Journal of Ophthalmology(English edition) 2019年第11期12卷 1674-1679页

作者： Su-Zhen Tang Ya-Ning Liu Shao-Hua Hu Hao Chen Hui Zhao Xue-Mei Feng Xiao-Jing Pan Peng Chen Department of Human Anatomy Histology and EmbryologySchool of Basic MedicineQingdao UniversityQingdao 266071Shandong ProvinceChina The 971 Hospital of the Chinese People’s Liberation Army Navy Qingdao 266071Shandong ProvinceChina Qingdao Eye Hospital Shandong Eye InstituteShandong First Medical University&Shandong Academy of Medical SciencesQingdao 266071Shandong ProvinceChina

AIM: To summarize the phenotypes and identify the underlying genetic cause of the fibrillin-1(FBN1) gene responsible for congenital ectopia lentis(EL) in two Chinese families in northern ***: A detailed family history and clinical data from all participants were collected by clinical examination. The candidate genes were captured and sequenced by targeted next-generation sequencing, and the results were confirmed by Sanger sequencing. Haplotyping was used to confirm the mutation sequence. Real-time PCR was used to determine the FBN1 messenger ribonucleic acid(m RNA) levels in patients with EL and in unaffected family ***: The probands and other patients in the two families were affected with congenital isolated EL. A heterozygous FBN1 mutation in exon 21(c.2420_IVS20-8 del TCTGAAACAins CGAAAG) was identified in FAMILY-1. A heterozygous FBN1 mutation in exon 14(c.1633 C>T, p.R545 C) was identified in FAMILY-2. Each mutation cosegregated with the affected individuals in the family and did not exist in unaffected family members and 200 unrelated normal ***: The insertion-deletion mutation(c.2420 IVS20-8 del TCTGAAACA ins CGAAAG) in the FBN1 gene is first identified in isolated EL. The mutation(c.1633 C>T) in the FBN1 gene was a known mutation in EL patient. The variable phenotypes among the patients expand the phenotypic spectrum of EL in a different ethnic background.

关键词： congenital ectopia lentis autosomal dominant targeted next-generation sequencing FBN1 fibrillin-1

A novel FBN1 missense mutation (p.C102Y) associated with ectopia lentis syndrome in a Chinese family

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International Journal of Ophthalmology(English edition) 2015年第5期8卷 855-859页

作者： Yi Zhai Wei Wang Ya-Nan Zhu Jin-Yu Li Yin-Hui Yu Kai-Ran Lai Ke Yao Eye Center the Second Affiliated Hospital of Zhejiang University School of Medicine Key Laboratory of Ophthalmology of Zhejiang Province

AIM: To characterize the disease-causing mutations in a Chinese family with ectopia lentis syndrome (ELS). METHODS: Patients and their family members were given complete physical, ophthalmic, and cardiovascular examinations. Genomic DNA samples were extracted from the peripheral blood of the pedigree members and 100 healthy controls. Mutation screening was performed in the fibrillin -1 (FBN1) gene by bi -directional sequencing of the amplified products. The mutation was analyzed using two bioinformatics methods. RESULTS: A novel heterozygous c.305G>A mutation in exon 3 of FBN1 was detected. As a result of this change, a highly conserved cysteine residue was replaced by a tyrosine residue (p.C102Y). Another mutation was found in the same exon (c.303T>C), which did not change the amino acid sequence. Both mutations were discovered in each affected individual, but not in the unaffected family members, or in 100 ethnically matched controls. A bioinformatics analysis predicted that mutation p.C102Y would affect protein function. CONCLUSION: In the first epidermal growth factor-like module, we identified a novel FBN1 mutation (p.C102Y), which caused ELS in the family. Our study presented a unique phenotype, including some distinct ophthalmic findings, such as hypoplasia of the iris and anisometropia. Our results expanded the mutation spectrum of FBN1 and enriched the overall knowledge of genotype-phenotype correlations due to FBN1 mutations.

关键词： Marfan syndrome fibrillin-1 ectopia lentis syndrome cysteine residue

FBN1基因与马凡综合征及其相关表型关系研究进展

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临床内科杂志 2021年第11期38卷 724-727页

作者：康小翠徐昳林瑷琪冯笑抄韩翔复旦大学附属上海市第五人民医院神经内科上海200240 复旦大学附属华山医院神经内科

FBN1基因位于人类第15号常染色体,含有65个外显子,其编码的蛋白fibrillin-1是血管内外弹力膜的重要组成成分之一。马凡综合征(MFS)是由FBN1基因突变导致fibrillin-1异常的常染色体显性遗传病,典型症状可累及骨骼、心血管、眼、皮肤等系... 详细信息

FBN1基因位于人类第15号常染色体,含有65个外显子,其编码的蛋白fibrillin-1是血管内外弹力膜的重要组成成分之一。马凡综合征(MFS)是由FBN1基因突变导致fibrillin-1异常的常染色体显性遗传病,典型症状可累及骨骼、心血管、眼、皮肤等系统。尽管FBN1基因突变与MFS及其相关表型的联系已有部分报道,但FBN1基因突变类型多样,致病机制复杂,捋清其动态发展过程对未来临床诊疗工作及发病机制的深入探索仍具有一定指导作用。鉴于此,本文对FBN1与MFS及其相关表型之间相关性进行综述。

关键词： FBN1基因 fibrillin-1 基因突变马凡综合征不完全性马凡综合征动脉夹层临床表现