Search Results - "Cantalupo, Sueva"
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Genetic Predisposition to Solid Pediatric Cancers
Published in Frontiers in oncology (28-10-2020)“…Progresses over the past years have extensively improved our capacity to use genome-scale analyses—including high-density genotyping and exome and genome…”
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2
HIF-1 transcription activity: HIF1A driven response in normoxia and in hypoxia
Published in BMC medical genetics (26-02-2019)“…HIF1A (Hypoxia-Inducible-Factor 1A) expression in solid tumors is relevant to establish resistance to therapeutic approaches. The use of compounds direct…”
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3
Regulatory Noncoding and Predicted Pathogenic Coding Variants of CCR5 Predispose to Severe COVID-19
Published in International journal of molecular sciences (20-05-2021)“…Genome-wide association studies (GWAS) found locus 3p21.31 associated with severe COVID-19. CCR5 resides at the same locus and, given its known biological role…”
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4
Italian Precision Medicine in Pediatric Oncology: Moving beyond Actionable Alterations
Published in International journal of molecular sciences (01-10-2022)“…Neuroblastoma (NB) is the most common extracranial solid tumor encountered in childhood. Although there has been significant improvement in the outcomes of…”
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Common variants at 21q22.3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19
Published in iScience (23-04-2021)“…The established risk factors of coronavirus disease 2019 (COVID-19) are advanced age, male sex, and comorbidities, but they do not fully explain the wide…”
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6
Improving single nucleotide polymorphisms genotyping accuracy for dihydropyrimidine dehydrogenase testing in pharmacogenetics
Published in Exploration of targeted anti-tumor therapy (2024)“…Fluoropyrimidines, crucial in cancer treatment, often cause toxicity concerns even at standard doses. Toxic accumulation of fluoropyrimidine metabolites,…”
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7
FGFR1 is a potential therapeutic target in neuroblastoma
Published in Cancer cell international (29-04-2022)“…FGFR1 regulates cell-cell adhesion and extracellular matrix architecture and acts as oncogene in several cancers. Potential cancer driver mutations of FGFR1…”
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From the identification of actionable molecular targets to the generation of faithful neuroblastoma patient-derived preclinical models
Published in Journal of translational medicine (13-02-2024)“…Neuroblastoma (NB) represents the most frequent and aggressive form of extracranial solid tumor of infants. Although the overall survival of patients with NB…”
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Functional characterization of full-length BARD1 strengthens its role as a tumor suppressor in neuroblastoma
Published in Journal of Cancer (01-01-2020)“…is associated with the development of high-risk neuroblastoma patients. Particularly, the expression of full length (FL) isoform, FL , correlates to high-risk…”
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CFDP1 is a neuroblastoma susceptibility gene that regulates transcription factors of the noradrenergic cell identity
Published in HGG advances (12-01-2023)“…Pleiotropic genetic factors (e.g., DNA polymorphisms) may be involved in the initiation of neuroblastoma (NB) and coronary artery disease (CAD) given their…”
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Single-cell transcriptomics of neuroblastoma identifies chemoresistance-associated genes and pathways
Published in Computational and structural biotechnology journal (01-01-2022)“…[Display omitted] High-Risk neuroblastoma (NB) survival rate is still <50%, despite treatments being more and more aggressive. The biggest hurdle liable to…”
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Integrative genomic analyses identify neuroblastoma risk genes involved in neuronal differentiation
Published in Human genetics (01-11-2024)“…Genome-Wide Association Studies (GWAS) have been decisive in elucidating the genetic predisposition of neuroblastoma (NB). The majority of genetic variants…”
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13
Somatic Mutations Enriched in Cis-Regulatory Elements Affect Genes Involved in Embryonic Development and Immune System Response in Neuroblastoma
Published in Cancer research (Chicago, Ill.) (01-04-2022)“…Noncoding cis-regulatory variants have gained interest as cancer drivers, yet progress in understanding their significance is hindered by the numerous…”
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Transcription Factors Involved in Tumorigenesis Are Over-Represented in Mutated Active DNA-Binding Sites in Neuroblastoma
Published in Cancer research (Chicago, Ill.) (01-02-2020)“…The contribution of coding mutations to oncogenesis has been largely clarified, whereas little is known about somatic mutations in noncoding DNA and their role…”
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Exploring the role of HLA variants in neuroblastoma susceptibility through whole exome sequencing
Published in HLA (01-05-2024)“…Although a number of susceptibility loci for neuroblastoma (NB) have been identified by genome‐wide association studies, it is still unclear whether variants…”
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Targeting ATP2B1 impairs PI3K/Akt/FOXO signaling and reduces SARS-COV-2 infection and replication
Published in EMBO reports (11-07-2024)“…ATP2B1 is a known regulator of calcium (Ca 2+ ) cellular export and homeostasis. Diminished levels of intracellular Ca 2+ content have been suggested to impair…”
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Neural crest-derived tumor neuroblastoma and melanoma share 1p13.2 as susceptibility locus that shows a long-range interaction with the SLC16A1 gene
Published in Carcinogenesis (New York) (14-05-2020)“…Abstract Neuroblastoma (NB) and malignant cutaneous melanoma (CMM) are neural crest cells (NCC)-derived tumors and may have a shared genetic basis, but this…”
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Functional annotation and investigation of the 10q24.33 melanoma risk locus identifies a common variant that influences transcriptional regulation of OBFC1
Published in Human molecular genetics (21-03-2022)“…Abstract The 10q24.33 locus is known to be associated with susceptibility to cutaneous malignant melanoma (CMM), but the mechanisms underlying this association…”
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Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals
Published in Genetics in medicine (01-08-2022)“…Emerging evidence suggest that infection-dependent hyperactivation of complement system (CS) may worsen COVID-19 outcome. We investigated the role of predicted…”
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Association of PARP1 polymorphisms with response to chemotherapy in patients with high‐risk neuroblastoma
Published in Journal of cellular and molecular medicine (01-04-2020)“…The genetic aetiology and the molecular mechanisms that characterize high‐risk neuroblastoma are still little understood. The majority of high‐risk…”
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