Congenital imprinting disorders: EUCID.net -a network to decipher their aetiology and to improve the diagnostic and clinical care

Autor: Andrea Riccio, Karen Grønskov, Agnès Linglart, Thomas Eggermann, Dave Nicholas Monk, Deborah J G Mackay, Eamonn R. Maher, Zeynep Tümer, Irène Netchine, I. Karen Temple
Přispěvatelé: Rheinisch-Westfälische Technische Hochschule Aachen University (RWTH), Centre de Recherche Saint-Antoine (UMRS893), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Human Genetics and Genomic Medicine group, Faculty of Medicine, Clinical genetic clinic, Copenhagen University Hospital, Cancer Epigenetics and Biology Program-PEBC, Institut d'Investigació Biomèdica de Bellvitge [Barcelone] (IDIBELL), Institute of Genetics and Biophysics 'A. Buzzati Traverso', Consiglio Nazionale delle Ricerche [Roma] (CNR), DISTABiF, Seconda Universita di Napoli, Immunologie et génétique du diabète de type 1, génétique multifactorielle en endocrinologie pédiatrique (U986), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Endocrinology and diabetology for children, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Metabolic Research Laboratories and NIHR Cambridge Biomedical Research Center, University of Cambridge [UK] (CAM), Administateur, HAL Sorbonne Université, Rheinisch-Westfälische Technische Hochschule Aachen (RWTH), Eggermann, Thoma, Netchine, Irène, Temple, Karen, Tümer, Zeynep, Monk, David, Mackay, Deborah, Grønskov, Karin, Riccio, Andrea, Linglart, Agnè, Maher, Eamonn R., National Research Council of Italy | Consiglio Nazionale delle Ricerche (CNR), Maher, Eamonn [0000-0002-6226-6918], Apollo - University of Cambridge Repository, RWTH Aachen University [Aachen], Centre de Recherche Saint-Antoine ( CR Saint-Antoine ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Pediatric endocrinology, Institut d'Investigació Biomèdica de Bellvitge [Barcelone] ( IDIBELL ), Consiglio Nazionale delle Ricerche [Roma] ( CNR ), Immunologie et génétique du diabète de type 1, génétique multifactorielle en endocrinologie pédiatrique ( U986 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), University of Cambridge [UK] ( CAM )
Jazyk: angličtina
Rok vydání: 2015
Předmět:
Imprinted genes
Collaborative network
Review
Biology
[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics
Bioinformatics
Imprinting disorder
03 medical and health sciences
Imprinted gene
Networking
[ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathology
Genetics
medicine
Malalties hereditàries
Epimutation
ddc:610
Clinical care
Imprinting (psychology)
[ SDV.GEN.GH ] Life Sciences [q-bio]/Genetics/Human genetics
Molecular Biology
Genetics (clinical)
030304 developmental biology
0303 health sciences
[SDV.MHEP] Life Sciences [q-bio]/Human health and pathology
EUCID.net
030305 genetics & heredity
Uniparental disomy
medicine.disease
Human genetics
3. Good health
Rare diseases
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
Etiology
DECIPHER
Malalties rares
Genomic imprinting
Imprinting disorders
[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Developmental Biology
Genetic diseases
Zdroj: Clinical Epigenetics
Clinical Epigenetics, 2015, 7 (23), pp.1-10. ⟨10.1186/s13148-015-0050-z⟩
Clinical epigenetics
7 (2015). doi:10.1186/s13148-015-0050-z
info:cnr-pdr/source/autori:Eggermann T.; Netchine I.; Temple K.; Tumer Z.; Monk D.; Mackay D.; Gronskov K.; Riccio A.; Linglart A.; Maher E.R./titolo:Congenital imprinting disorders: Eucid.net-a network to decipher their aetiology and to improve the diagnostic and clinical care/doi:10.1186%2Fs13148-015-0050-z/rivista:Clinical epigenetics (Print)/anno:2015/pagina_da:/pagina_a:/intervallo_pagine:/volume:7
Clinical Epigenetics, BioMed Central, 2015, 7 (23), pp.1-10. ⟨10.1186/s13148-015-0050-z⟩
Recercat. Dipósit de la Recerca de Catalunya
instname
Dipòsit Digital de la UB
Universidad de Barcelona
Clinical epigenetics 7(1), 23 (2015). doi:10.1186/s13148-015-0050-z
Clinical Epigenetics, BioMed Central, 2015, 7 (23), pp.1-10. 〈10.1186/s13148-015-0050-z〉
ISSN: 1868-7083
DOI: 10.1186/s13148-015-0050-z⟩
Popis: International audience; Imprinting disorders (IDs) are a group of eight rare but probably underdiagnosed congenital diseases affecting growth, development and metabolism. They are caused by similar molecular changes affecting regulation, dosage or the genomic sequence of imprinted genes. Each ID is characterised by specific clinical features, and, as each appeared to be associated with specific imprinting defects, they have been widely regarded as separate entities. However, they share clinical characteristics and can show overlapping molecular alterations. Nevertheless, IDs are usually studied separately despite their common underlying (epi)genetic aetiologies, and their basic pathogenesis and long-term clinical consequences remain largely unknown. Efforts to elucidate the aetiology of IDs are currently fragmented across Europe, and standardisation of diagnostic and clinical management is lacking. The new consortium EUCID.net (European network of congenital imprinting disorders) now aims to promote better clinical care and scientific investigation of imprinting disorders by establishing a concerted multidisciplinary alliance of clinicians, researchers, patients and families. By encompassing all IDs and establishing a wide ranging and collaborative network, EUCID.net brings together a wide variety of expertise and interests to engender new collaborations and initiatives.
Databáze: OpenAIRE
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