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Characteristics of corneal dystrophies:a review from clinical,histological and genetic perspectives 被引量:9
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作者 Ze-Nan Lin Jie Chen Hong-Ping Cui 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2016年第6期904-913,共10页
Corneal dystrophy is a common type of hereditary corneal diseases. It includes many types, which have varied pathology, histology and clinical manifestations. Recently, the examination techniques of ophthalmology and ... Corneal dystrophy is a common type of hereditary corneal diseases. It includes many types, which have varied pathology, histology and clinical manifestations. Recently, the examination techniques of ophthalmology and gene sequencing advance greatly, which do benefit to our understanding of these diseases. However, many aspects remain still unknown. And due to the poor knowledge of these diseases, the results of the treatments are not satisfactory. The purpose of this review was to summarize the clinical, histological and genetic characteristics of different types of corneal dystrophies. 展开更多
关键词 corneal dystrophy CLINIC HISTOLOGY genemutation
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Clinical and biological characteristics of colorectal cancer with familial predisposition
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作者 吴保平 张亚历 +2 位作者 周殿元 高春芳 赖卓胜 《Journal of Medical Colleges of PLA(China)》 CAS 2001年第2期90-93,共4页
Objective:To evaluatethemicrosatelliteinstability(MSI),expressionof mismatchrepair(MMR)gene(hMLH1,hMSH2)andproliferationkineticsincolorectalcancer(CRC)withfamilialpredisposition.Method:Forty-sixcasesof CRC were studie... Objective:To evaluatethemicrosatelliteinstability(MSI),expressionof mismatchrepair(MMR)gene(hMLH1,hMSH2)andproliferationkineticsincolorectalcancer(CRC)withfamilialpredisposition.Method:Forty-sixcasesof CRC were studiedusingsilverstainingpolymerasechainreaction-singlestrandconformation polymorphism(PCR-SSCP)technique,streptavidin-peroxidase(SP)immunohistochemicalmethodand flowcyto-metry.Results:In CRCpatientswithfamilialpredisposition,theMSI-positiveratewas higherthanin sporadicCRC(P<0.05).FamilialpredispositionandpositiveMSIwerestronglyrelatedto earlyageof canceronset,theproclivity for proximalcoloniccancer,poordifferentiatedandextracolorectalnmalignancies(P<0.01,P<0.05).Theincidence of negativeexpressionof hMLH1intumortissueandhMLH1,hMSH2innormalcolorectaltissueswassignificantly higher(P<0.05).Thenegativeexpressionof hMLH1togetherwithhMSH2was relatedwithpositiveMSI(P<0.05).InMSI-positiveCRCcells,theproliferationcellnucleusantigen(PCNA)expression,proliferationindexandS-phase cellsdecreasedobviously(P<0.01,P<0.05).Conclusion:In CRCwithfamilialpredisposition,MSI mightbe an importantcontributor.Therateof hMLH1andhMSH2mutationincreasedintumorandnormaltissue,andtheproli-ferationactivityof theircancercellwaslower. 展开更多
关键词 COLORECTALCANCER familialpredisposition microsatelliteinstability mismatchrepairgene genemutation GENEEXPRESSION CELLPROLIFERATION
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Focus on cardiac troponin complex:From gene expression to cardiomyopathy
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作者 Rosetta Ragusa Chiara Caselli 《Genes & Diseases》 SCIE 2024年第6期115-134,共20页
The cardiac troponin complex(cTn)is a regulatory component of sarcomere.cTn consists of three subunits:cardiac troponin C(cTnC),which confers Ca2+sensitivity to muscle;cTnl,which inhibits the interaction of cross-brid... The cardiac troponin complex(cTn)is a regulatory component of sarcomere.cTn consists of three subunits:cardiac troponin C(cTnC),which confers Ca2+sensitivity to muscle;cTnl,which inhibits the interaction of cross-bridge of myosin with thin filament during dias-tole;and cTnT,which has multiple roles in sarcomere,such as promoting the link between the cTnl-cTnC complex and tropomyosin within the thin filament and influencing Ca2+sensi-tivity of cTn and force development during contraction.Conditions that interfere with inter-actions within cTn and/or other thin filament proteins can be key factors in the regulation of cardiac contraction.These conditions include alterations in myoflament Caz+sensitivity,direct changes in cTn function,and triggering downstream events that lead to adverse cardiac remodeling and impairment of heart function.This review describes gene expression and post-translational modifications of cTn as well as the conditions that can adversely affect the deli-cate balance among the components of cTn,thereby promoting contractile dysfunction. 展开更多
关键词 Cardiac troponin Cardiomyopathy genemutation Post-translational modification Therapy
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