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Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome

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Cancer Communications 2021年第3期41卷 218-228页

作者： Rosario Ferrer-Avargues Maria Isabel Castillejo Estela Damaso Virginia Diez-Obrero Noemi Garrigos Tatiana Molina Alan Codoner-Alejos Angel Segura Ana beatriz Sanchez-heras Adela Castillejo Jose Luis Soto Foundation for the Promotion of Health and Biomedical Research of Valencia Region(FISABIO) FISABIO-Elche Health DepartmentElche 032303Spain Molecular Genetics Unit.Elche University Hospital Elche 032303Spain Department of Molecular Biopathology Immunological Center of AlicanteSan Juan-Alicante 03550Spain Medical Oncology Department Cancer Genetic Counseling Unit.La Fe University HospitalValencia 46026Spain Medical Oncology Department Cancer Genetic Counseling Unit.Elche University HospitalElche 03203Spain

Background:Lynch syndrome(LS)is a hereditary condition characterized by a high risk of colorectal cancer,endometrial cancer,and other neoplasia associated with germline alterations in DNA mismatch repair *** classical genetic diagnostic strategy for LS consists of the Sanger sequencing of genes associated with the suspected ***-generation sequencing(NGS)enables the simultaneous sequencing of a large number of hereditary cancer ***,we aimed to study whether other germline pathogenic variants of hereditary cancer genes are present in patients with ***:A cohort of 84 probands with a previous genetic diagnosis of LS by Sanger sequencing was reanalyzed using NGS via a commercial panel of 94 hereditary cancer genes by hybrid *** American College of Medical Genetics and Genomics criteria were used to classify the clinical significance of the *** findings of NGS were confirmed by Sanger *** possible,genetic analyses of the new findings in the proband’s relativeswere also performed by Sanger ***:We identified five families(6%),out of 84,with at least two germline pathogenic variants conferring to high or moderate risk in different dominant cancer-predisposing genes:[MLH1-BRCA2-NBN],[MLH1-BRCA1],[MSH2-ATM],[MSH6-NF1],and[MLH1-FANCA].Interestingly,only one out of these five families exhibited a clinical phenotype associated with the new pathogenic *** family with three pathogenic variants of the[MLH1-BRCA2-NBN]genes showed a high aggregation of tumors associated with LS and breast and ovarian cancer ***:Our results showed that the co-occurrence of more than one pathogenic variant in cancer-predisposing genes was remarkable among cases of *** cases,no clinicial manifestations were associated with the secondary pathogenic *** studies are needed to confirm these findings and elucidate their clinical *** of LS families should be considered only in fa

关键词： cancer panel hereditary cancer lynch syndrome moderate penetrance genes multilocus inherited neoplasia alleles syndrome next-generation sequencing secondary findings

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Repsol石油公司园区

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建筑学报 2014年第4期 62-69页

作者： Jesús Román Concha Pe a Marcus Lassan Carolina Fernández Conchi Cobo Guillermo Vidal Bodo Schumacher Laura Díaz Hubert Lionnez María Millán Hugo Berenguer Guillermo Cervantes beatriz heras Zaloa Mayor María Martínez Miguel García Irene Zurdo María Iglesias Alfonso Quiroga 刘亦师拉斐尔.德.拉-霍兹建筑设计公司

Repsol石油公司总部园区位于马德里市中心的门德兹艾瓦罗(MendezAlvaro),是马德里中心市区唯一的一处公司总部园区,在可达性、可持续性和安全性等诸方面都进行了探索.该项目获得了美国绿色建筑协会的LEED白金认证,成为欧洲最“绿色”的... 详细信息

Repsol石油公司总部园区位于马德里市中心的门德兹艾瓦罗(MendezAlvaro),是马德里中心市区唯一的一处公司总部园区,在可达性、可持续性和安全性等诸方面都进行了探索.该项目获得了美国绿色建筑协会的LEED白金认证,成为欧洲最“绿色”的建筑之一.该项目严格依据条件苛刻的可持续设计原则进行设计和建设的,方案的可持续性、生态高效的交通体系、建材的可重复利用性等都是被LEED认证时被考查的重要因素.

关键词：石油公司 LEED 建筑师美术家 Repsol 建筑群园区

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林奇综合征患者中同时具有不同遗传性肿瘤综合征的种系变异

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癌症 2022年第5期41卷 215-225页

作者： Rosario Ferrer-Avargues María Isabel Castillejo Estela Dámaso Virginia Díez-Obrero NoemíGarrigos Tatiana Molina Alan Codoñer-Alejos Ángel Segura Ana beatriz Sánchez-heras Adela Castillejo JoséLuis Soto Foundation for the Promotion of Health and Biomedical Research of Valencia Region(FISABIO) FISABIO-Elche Health DepartmentElche 032303Spain Molecular Genetics Unit.Elche University Hospital Elche 032303Spain Department of Molecular Biopathology Immunological Center of AlicanteSan Juan-Alicante 03550Spain Medical Oncology Department Cancer Genetic Counseling Unit.La Fe University HospitalValencia 46026Spain Medical Oncology Department Cancer Genetic Counseling Unit.Elche University HospitalElche 03203Spain

背景与目的林奇综合征(lynch syndrome,LS)是一种遗传性疾病,LS患者罹患结直肠癌、子宫内膜癌和其他与DNA错配修复基因发生种系突变相关肿瘤的风险较高。LS的传统遗传诊断方法为对与疑似综合征相关的基因进行桑格测序。二代测序技术(nex... 详细信息

背景与目的林奇综合征(lynch syndrome,LS)是一种遗传性疾病,LS患者罹患结直肠癌、子宫内膜癌和其他与DNA错配修复基因发生种系突变相关肿瘤的风险较高。LS的传统遗传诊断方法为对与疑似综合征相关的基因进行桑格测序。二代测序技术(next-generation sequencing,NGS)可同时对大量遗传性癌基因进行测序。本研究旨在探究林奇综合征患者中是否存在其他遗传性种系病理癌基因变异。方法我们选取先前已利用桑格测序遗传诊断法确诊的84例LS先证者作为研究对象,通过杂交捕获一组94个商业化的遗传癌基因,随后对这些捕获的样本进行NGS测序。按照美国医学遗传学和基因组学标准,对这些变异的临床意义进行分类。利用桑格测序验证NGS的结果。在可能的情况下,利用桑格测序进一步在先证者的亲属中进行新发现种系变异基因的遗传分析。结果我们从84个家族中鉴定出5(6%)个至少含有2个种系致病变异的家族,这些变异具有高或中等的诱发不同显性癌症的风险,这些家族的种系致病变异如下:[MLH1-BRCA2-NBN]、[MLH1-BRCA1]、[MSH2-ATM]、[MSH6-NF1]和[MLH1-FANCA]。有趣的是,这5个家族中只有1个家族表现出与新的致病变异相关的临床表型。含有3个致病变异基因[MLH1-BRCA2-NBN]的家族显示出LS、乳腺和卵巢癌综合征相关肿瘤的高度聚集特性。结论我们的研究表明,癌症易感基因中,同时发生多个致病变异是LS病例的显著特点。在大部分的病例中,继发性致病变异与临床表型不相关。将来需要进一步验证这些结论并阐明其临床影响。只有表现出复杂的临床表型家族才有必要重新对LS进行分析。

关键词：癌症组遗传性癌症林奇综合征中度外显基因多位点遗传性肿瘤等位基因综合征二代测序次要发现

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Allicin neuroprotective effect during oxidative/inflammatory injury involves AT1-Hsp70-iNOS counterbalance axis

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BIOCELL 2020年第4期44卷 671-681页

作者： LUCIANA MAZZEI MARÍA BELÉN RUIZ-ROSO NATALIA DE LAS heras SANDRA BALLESTEROS CAROLINA TORRESPALAZZOLO LEÓN FERDER ALEJANDRA beatriz CAMARGO WALTER MANUCHA Instituto de Medicina y Biología Experimental de Cuyo(IMBECU) Consejo Nacional de Investigaciones Científicas y Tecnológicas(CONICET)Mendoza5500Argentina Área de Farmacología Departamento de PatologíaFacultad de Ciencias MédicasUniversidad Nacional de Cuyo Centro UniversitarioMendoza5500Argentina Departamento de Fisiología Facultad de MedicinaUniversidad ComplutenseMadrid34523España IBAM Universidad Nacional de CuyoCONICETFacultad de Ciencias AgrariasMendozaM5528AHBArgentina Department of Pediatrics Nephrology DivisionMiller School of MedicineUniversity of MiamiMiami33012USA

The ancestral cultures have described many therapeutic properties of garlic,therefore,it is of central interest to elucidate the molecular basis explaining this millenary empirical ***,it has been demonstrated a neuroprotective effect of allicin–a phytochemical present in garlic-linked to oxidative-inflammatory *** improved neuronal injury by heat shock protein 70(Hsp70)and inducible nitric oxide synthase(iNOS)***,allicin exerts renal protection involving a possible angiotensin type 1 receptor(AT1)*** connection,AT1 overexpression has been recognized as a central deleterious factor in many brain ***,there are no studies that evaluate AT1-Hsp70-iNOS interaction as a mechanism linked to ***,our central aim is to evaluate if the allicin protective effect is associated with an AT1-Hsp70-iNOS counterbalance *** this study,a murine microglial cell line(BV-2)was injured with lipopolysaccharides and treated or not with ***,it was evaluated cell viability,proinflammatory cytokine levels,cellular oxidative stress,iNOS,Hsp70,and AT1 protein expression(cellular and mitochondrial fractions),nitrite levels,and protein-protein *** results demonstrated that allicin could prevent neuronal injury due to a reduction in oxidative stress and inflammatory status mediated by an AT1-Hsp70-iNOS counterbalance axis linked to direct protein-protein interaction.

关键词： Allicin neuroinflammation BV-2 cells AT1 receptors iNOS Hsp70

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