Search Results - "Lazzarini, Elisabetta"
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Human SOD2 modification by dopamine quinones affects enzymatic activity by promoting its aggregation: possible implications for Parkinson's disease
Published in PloS one (18-06-2012)“…Mitochondrial dysfunction and oxidative stress are considered central in dopaminergic neurodegeneration in Parkinson's disease (PD). Oxidative stress occurs…”
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2
Anti-VEGF therapy selects for clones resistant to glucose starvation in ovarian cancer xenografts
Published in Journal of experimental & clinical cancer research (07-08-2023)“…Genetic and metabolic heterogeneity are well-known features of cancer and tumors can be viewed as an evolving mix of subclonal populations, subjected to…”
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3
Homozygous Desmocollin-2 Mutations and Arrhythmogenic Cardiomyopathy
Published in The American journal of cardiology (15-10-2015)“…Dominant mutations in desmocollin-2 ( DSC2 ) gene cause arrhythmogenic cardiomyopathy (ACM), a progressive heart muscle disease characterized by ventricular…”
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Arrhythmogenic cardiomyopathy
Published in Orphanet journal of rare diseases (02-04-2016)“…Arrhythmogenic cardiomyopathy (AC) is a heart muscle disease clinically characterized by life-threatening ventricular arrhythmias and pathologically by an…”
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Liquid Biopsy of Cerebrospinal Fluid Enables Selective Profiling of Glioma Molecular Subtypes at First Clinical Presentation
Published in Clinical cancer research (03-04-2023)“…Current glioma diagnostic guidelines call for molecular profiling to stratify patients into prognostic and treatment subgroups. In case the tumor tissue is…”
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Clinicopathological and molecular landscape of 5-year IDH-wild-type glioblastoma survivors: A multicentric retrospective study
Published in Cancer letters (28-04-2024)“…Five-year glioblastoma (GBM) survivors (LTS) are the minority of the isocitrate dehydrogenase (IDH)-wild-type GBM patients, and their molecular fingerprint is…”
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The ARVD/C Genetic Variants Database: 2014 Update
Published in Human mutation (01-04-2015)“…ABSTRACT Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiac disease characterized by myocardial atrophy, fibro‐fatty replacement, and a high risk of…”
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EPCO-02. GENOME-WIDE DNA METHYLATION PROFILING AND GENETIC CHARACTERIZATION OF LONG-TERM SURVIVAL IDH WILD-TYPE GLIOBLASTOMA PATIENTS
Published in Neuro-oncology (Charlottesville, Va.) (14-11-2022)“…Abstract Glioblastoma multiforme (GBM) has a dismal outcome of approximately 12 months. Less than 5% of patients (long-term survivors-LTS) survives more than…”
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Genome-wide profiling of patient-derived glioblastoma stem-like cells reveals recurrent genetic and transcriptomic signatures associated with brain tumors
Published in Journal of neuro-oncology (01-05-2023)“…Purpose Patient-derived cancer cell lines can be very useful to investigate genetic as well as epigenetic mechanisms of transformation and to test new drugs…”
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TGF-beta1 pathway activation and adherens junction molecular pattern in nonsyndromic mitral valve prolapse
Published in Cardiovascular pathology (01-11-2015)“…Abstract Aims Dysregulation of the transforming growth factor beta (TGF-β) 1 pathway has been associated with either syndromic or isolated mitral valve (MV)…”
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Large Genomic Rearrangements of Desmosomal Genes in Italian Arrhythmogenic Cardiomyopathy Patients
Published in Circulation. Arrhythmia and electrophysiology (01-10-2017)“…Arrhythmogenic cardiomyopathy (AC) is an inherited heart muscle disease associated with point mutations in genes encoding for cardiac desmosome proteins…”
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Nonischemic Left Ventricular Scar: Sporadic or Familial? Screen the Genes, Scan the Mutation Carriers
Published in Circulation (New York, N.Y.) (18-11-2014)Get full text
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Is There a Link between Chronic Obstructive Pulmonary Disease and Lung Adenocarcinoma? A Clinico-Pathological and Molecular Study
Published in Journal of personalized medicine (08-08-2024)“…Chronic Obstructive Pulmonary Disease (COPD) and lung cancer are strictly related. To date, it is unknown if COPD-associated cancers are different from the…”
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Distinct molecular signature of phospholamban p.Arg14del arrhythmogenic cardiomyopathy
Published in Cardiovascular pathology (01-05-2019)“…Phospholamban (PLN) p.Arg14del cardiomyopathy is characterized by a distinct arrhythmogenic biventricular phenotype that can be predominantly left ventricular,…”
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Abstract 11362: Tissue and Circulating microRNA Signature in Arrhythmogenic Cardiomyopathy
Published in Circulation (New York, N.Y.) (06-11-2018)“…IntroductionArrhythmogenic cardiomyopathy (AC) is a clinically and genetically heterogeneous myocardial disease. Although half of AC patients harbor single or…”
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Abstract 11387: Differential Gene Expression Analysis in Arrhythmogenic Cardiomyopathy
Published in Circulation (New York, N.Y.) (06-11-2018)“…IntroductionArrhythmogenic cardiomyopathy (AC) is an inherited myocardial disease characterized by fibro-fatty replacement of the myocardium and…”
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Abstract 19270: Large Genomic Rearrangements of Desmosomal Genes in Arrhythmogenic Cardiomyopathy
Published in Circulation (New York, N.Y.) (11-11-2016)“…IntroductionArrhythmogenic Cardiomyopathy (AC) is an inherited heart muscle disease associated with point mutations in genes encoding mainly components of the…”
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