Search Results - "Conti, Anna"
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Genetics and Molecular Basis of Congenital Heart Defects in Down Syndrome: Role of Extracellular Matrix Regulation
Published in International journal of molecular sciences (02-02-2023)“…Down syndrome (DS), a complex disorder that is caused by the trisomy of chromosome 21 (Hsa21), is a major cause of congenital heart defects (CHD)…”
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Mitochondrial dysfunction in down syndrome: molecular mechanisms and therapeutic targets
Published in Molecular Medicine (15-03-2018)“…Trisomy of chromosome 21 (TS21) is the most common autosomal aneuploidy compatible with postnatal survival with a prevalence of 1 in 700 newborns. Its…”
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Targeting Mitochondrial Network Architecture in Down Syndrome and Aging
Published in International journal of molecular sciences (29-04-2020)“…Mitochondria are organelles that mainly control energy conversion in the cell. In addition, they also participate in many relevant activities, such as the…”
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The hand that has forgotten its cunning-Lessons from musicians' hand dystonia
Published in Movement disorders (30-07-2008)“…Focal task‐specific dystonia of the musicians' hand (FTSDmh) is an occupational movement disorder that affects instrumental musicians and often derails…”
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NRIP1/RIP140 siRNA-mediated attenuation counteracts mitochondrial dysfunction in Down syndrome
Published in Human molecular genetics (15-08-2014)“…Mitochondrial dysfunction, which is consistently observed in Down syndrome (DS) cells and tissues, might contribute to the severity of the DS phenotype. Our…”
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Overexpression of the Hsa21 Transcription Factor RUNX1 Modulates the Extracellular Matrix in Trisomy 21 Cells
Published in Frontiers in genetics (10-03-2022)“…Down syndrome is a neurodevelopmental disorder frequently characterized by other developmental defects, such as congenital heart disease. Analysis of gene…”
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Down Syndrome Fetal Fibroblasts Display Alterations of Endosomal Trafficking Possibly due to SYNJ1 Overexpression
Published in Frontiers in genetics (13-05-2022)“…Endosomal trafficking is essential for cellular homeostasis. At the crossroads of distinct intracellular pathways, the endolysosomal system is crucial to…”
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Pioglitazone Improves Mitochondrial Organization and Bioenergetics in Down Syndrome Cells
Published in Frontiers in genetics (28-06-2019)“…Mitochondrial dysfunction plays a primary role in neurodevelopmental anomalies and neurodegeneration of Down syndrome (DS) subjects. For this reason, targeting…”
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Human Trisomic iPSCs from Down Syndrome Fibroblasts Manifest Mitochondrial Alterations Early during Neuronal Differentiation
Published in Biology (Basel, Switzerland) (30-06-2021)“…Background: The presence of mitochondrial alterations in Down syndrome suggests that it might affect neuronal differentiation. We established a model of…”
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Altered expression of mitochondrial and extracellular matrix genes in the heart of human fetuses with chromosome 21 trisomy
Published in BMC genomics (07-08-2007)“…The Down syndrome phenotype has been attributed to overexpression of chromosome 21 (Hsa21) genes. However, the expression profile of Hsa21 genes in trisomic…”
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Identification of novel Pax8 targets in FRTL-5 thyroid cells by gene silencing and expression microarray analysis
Published in PloS one (23-09-2011)“…The differentiation program of thyroid follicular cells (TFCs), by far the most abundant cell population of the thyroid gland, relies on the interplay between…”
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Corrigendum: Pioglitazone Improves Mitochondrial Organization and Bioenergetics in Down Syndrome Cells
Published in Frontiers in genetics (27-07-2020)Get full text
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Chromosomal Microarray Analysis versus Karyotyping in Fetuses with Increased Nuchal Translucency
Published in Medical sciences (Basel) (27-02-2019)“…We have carried out a retrospective study of chromosome anomalies associated with increased nuchal translucency (NT) in order to compare yield rates of…”
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Architectural Mapping: Proiectura - Lovere, la città illuminata
Published in Connessioni remote (Periodico) (06-06-2023)“…Una riflessione e un racconto fotografico sul progetto Proiectura-Lovere la città illuminata, un architectural mapping realizzato nel maggio 2023 nella…”
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Overexpression of Chromosome 21 miRNAs May Affect Mitochondrial Function in the Hearts of Down Syndrome Fetuses
Published in International journal of genomics (01-01-2017)“…Dosage-dependent upregulation of most of chromosome 21 (Hsa21) genes has been demonstrated in heart tissues of fetuses with Down syndrome (DS). Also miRNAs…”
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The neural progenitor-restricted isoform of the MARK4 gene in 19q13.2 is upregulated in human gliomas and overexpressed in a subset of glioblastoma cell lines
Published in Oncogene (01-05-2003)“…Alterations of 19q13 are frequently observed in glial neoplasms, suggesting that this region harbors at least one gene involved in gliomagenesis. Following our…”
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Exploring Burial and Dietary Patterns at the Copper Age Necropolis of Selvicciola (Viterbo, Italy): New Perspectives from 14C and Stable Isotope Data
Published in Heritage (01-06-2024)“…The Selvicciola necropolis is a large burial site dated to the Copper Age, located on the mid-Tyrrhenian side of Central Italy, in the Fiora river valley…”
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Wide gene expression profiling of ischemia‐reperfusion injury in human liver transplantation
Published in Liver transplantation (01-01-2007)“…Ischemia‐reperfusion injury (IRI) causes up to 10% of early liver failures in humans and can lead to a higher incidence of acute and chronic rejection. So far,…”
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Variegated silencing through epigenetic modifications of a large Xq region in a case of balanced X;2 translocation with Incontinentia Pigmenti-like phenotype
Published in Epigenetics (01-10-2011)“…Molecular mechanisms underlying aberrant phenotypes in balanced X;autosome translocations are scarcely understood. We report the case of a de novo reciprocal…”
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Suppression of neurite outgrowth by high-dose nerve growth factor is independent of functional p75NTR receptors
Published in Neurobiology of disease (01-02-2004)“…We have previously demonstrated that high concentrations of nerve growth factor suppress neurite outgrowth from sensory neurons. Inhibition could be mediated…”
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