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Andrea Riccio

Bio: Andrea Riccio is an academic researcher from Seconda Università degli Studi di Napoli. The author has contributed to research in topics: Genomic imprinting & DNA methylation. The author has an hindex of 44, co-authored 117 publications receiving 6621 citations. Previous affiliations of Andrea Riccio include International Institute of Minnesota & University of Copenhagen.


Papers
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TL;DR: It is revealed that ZFP57, its cofactor KAP1, and associated effectors bind selectively to the H3K9me3-bearing, DNA-methylated allele of ICRs in ES cells, and a general mechanism for the protection of specific loci against the wave of DNA demethylation that affects the mammalian genome during early embryogenesis is suggested.

534 citations

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TL;DR: Etude de la regulation hormonale des enzymes appartenant a la famille de serine protease inhibiteur (plasminogen activator et urokinase)

404 citations

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TL;DR: It is shown, using in vivo murine models of tumorigenesis, that the H19 locus controls the size of experimental teratocarcinomas, the number of polyps in the Apc murine model of colorectal cancer and the timing of appearance of SV40-induced hepatocarc in mice.
Abstract: The H19 locus belongs to a cluster of imprinted genes that is linked to the human Beckwith-Wiedemann syndrome. The expression of H19 and its closely associated IGF2 gene is frequently deregulated in some human tumors, such as Wilms' tumors. In these cases, biallelic IGF2 expression and lack of expression of H19 are associated with hypermethylation of the imprinting center of this locus. These observations and others have suggested a potential tumor suppressor effect of the H19 locus. Some studies have also suggested that H19 is an oncogene, based on tissue culture systems. We show, using in vivo murine models of tumorigenesis, that the H19 locus controls the size of experimental teratocarcinomas, the number of polyps in the Apc murine model of colorectal cancer and the timing of appearance of SV40-induced hepatocarcinomas. The H19 locus thus clearly displays a tumor suppressor effect in mice.

323 citations

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TL;DR: An international consensus group agreed upon 72 recommendations for the clinical and molecular diagnosis and management of Beckwith–Wiedemann syndrome, including comprehensive protocols for the molecular investigation, care and treatment of patients from the prenatal period to adulthood.
Abstract: This Consensus Statement was organized by the European Network of Human Congenital Imprinting Disorders (EUCIDnet) with financial support from European Cooperation in Science and Technology (COST; BM1208) Newlife the Charity for Disabled Children, the European Society of Pediatric Endocrinology (ESPE) and the Societe Francaise de lutte contre les Cancers et leucemies de l'enfant et de l'adolescent (SFCE) provided funding for the consensus meeting The European Society of Pediatric Nephrology (ESPN) provided support for the meeting Individual authors would like to thank the following funders for research support: Alex's Lemonade Stand Foundation (JMK); Bundesministerium fur Bildung und Forschung (BMBF) (number 01GM1513C) (DP); Child Growth Foundation (KT-B); European Union FP7 Innovative Training Network (ITN) Ingenium N 290123 (YLeB, AR, IN, ERM); FIS (grant PI15/01481) (PL, JT); Fondation de Recherche Medicale (YLeB); Margaret Q Landenberger Foundation (JMK); MIUR PRIN 2015 JHLY35 (AR, GBF, SRu); MOH Grants to Istituto Auxologico Italiano (grant: RC 08C502_2015) (SRu); US National Institutes of Health (grant K08CA193915) (JMK); UK National Institute for Health Research (NIHR) Rare Diseases Translational Research Collaboration (ACF); St Baldrick's Scholar Award (JMK); The Estonian Research Council (grant PUT355) (KO); Universite P et M Curie, Institut National de la Sante Et de la Recherche Medicale (YLB); Telethon-Italia GGP15131 and AIRC IG18671 (AR); Wellcome Trust (MDK); European Research Council (ERM); and NIHR Senior Investigator Award (ERM) The University of Cambridge has received salary support in respect of ERM from the National Health Service (NHS) in the East of England through the Clinical Academic Reserve The views expressed are those of the authors and not necessarily those of the NHS or UK Department of Health No funding was received from pharmaceutical companies

320 citations

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TL;DR: It is shown that inherited microdeletions in the H19 differentially methylated region (DMR) that abolish two CTCF target sites cause overgrowth- and tumor-associated Beckwith-Wiedemann syndrome.
Abstract: The overgrowth- and tumor-associated Beckwith-Wiedemann syndrome results from dysregulation of imprinted genes on chromosome 11p15.5. Here we show that inherited microdeletions in the H19 differentially methylated region (DMR) that abolish two CTCF target sites cause this disease. Maternal transmission of the deletions results in hypermethylation of the H19 DMR, biallelic IGF2 expression, H19 silencing and Beckwith-Wiedemann syndrome, indicative of loss of function of the IGF2-H19 imprinting control element.

285 citations


Cited by
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TL;DR: The transforming growth factor beta (TGF-beta) family of growth factors control the development and homeostasis of most tissues in metazoan organisms and mutations in these pathways are the cause of various forms of human cancer and developmental disorders.
Abstract: The transforming growth factor beta (TGF-beta) family of growth factors control the development and homeostasis of most tissues in metazoan organisms. Work over the past few years has led to the elucidation of a TGF-beta signal transduction network. This network involves receptor serine/threonine kinases at the cell surface and their substrates, the SMAD proteins, which move into the nucleus, where they activate target gene transcription in association with DNA-binding partners. Distinct repertoires of receptors, SMAD proteins, and DNA-binding partners seemingly underlie, in a cell-specific manner, the multifunctional nature of TGF-beta and related factors. Mutations in these pathways are the cause of various forms of human cancer and developmental disorders.

7,710 citations

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TL;DR: It is clear that the understanding of the myofibroblast — its origins, functions and molecular regulation — will have a profound influence on the future effectiveness not only of tissue engineering but also of regenerative medicine generally.
Abstract: During the past 20 years, it has become generally accepted that the modulation of fibroblastic cells towards the myofibroblastic phenotype, with acquisition of specialized contractile features, is essential for connective-tissue remodelling during normal and pathological wound healing. Yet the myofibroblast still remains one of the most enigmatic of cells, not least owing to its transient appearance in association with connective-tissue injury and to the difficulties in establishing its role in the production of tissue contracture. It is clear that our understanding of the myofibroblast its origins, functions and molecular regulation will have a profound influence on the future effectiveness not only of tissue engineering but also of regenerative medicine generally.

3,836 citations

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TL;DR: It is shown that CpG islands in methylated genomes are maintained, despite a tendency for 5mCpG to mutate by deamination to TpG+CpA, by the structural stability of a high G+C content alone, and that C pG islands associated with exons result from some selective importance of the arginine codon CGX.

3,321 citations

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TL;DR: The present review discusses in detail the primary structures and the overlapping yet distinct substrate specificities of MMPs as well as the mode of activation of the unique MMP precursors.
Abstract: Matrix metalloproteinases (MMPs) are a family of nine or more highly homologous Zn(++)-endopeptidases that collectively cleave most if not all of the constituents of the extracellular matrix. The present review discusses in detail the primary structures and the overlapping yet distinct substrate specificities of MMPs as well as the mode of activation of the unique MMP precursors. The regulation of MMP activity at the transcriptional level and at the extracellular level (precursor activation, inhibition of activated, mature enzymes) is also discussed. A final segment of the review details the current knowledge of the involvement of MMP in specific developmental or pathological conditions, including human periodontal diseases.

3,040 citations

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TL;DR: Key concepts in the function of DNA methylation in mammals are discussed, stemming from more than two decades of research, including many recent studies that have elucidated when and whereDNA methylation has a regulatory role in the genome.
Abstract: DNA methylation is among the best studied epigenetic modifications and is essential to mammalian development. Although the methylation status of most CpG dinucleotides in the genome is stably propagated through mitosis, improvements to methods for measuring methylation have identified numerous regions in which it is dynamically regulated. In this Review, we discuss key concepts in the function of DNA methylation in mammals, stemming from more than two decades of research, including many recent studies that have elucidated when and where DNA methylation has a regulatory role in the genome. We include insights from early development, embryonic stem cells and adult lineages, particularly haematopoiesis, to highlight the general features of this modification as it participates in both global and localized epigenetic regulation.

2,550 citations