| Lessons from imprinted multilocus loss of methylation in human syndromes: A step toward understanding the mechanisms underlying these complex diseases. | |
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MedLine Citation:
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PMID: 20495355 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Genomic imprinting is one of the most important epigenetic mechanisms of regulation. Faithful establishment and maintenance of imprinting during mammalian fetal development is crucial for correct fetal and postnatal development of the individual. In humans, numerous complex syndromes (including Russell Silver Syndrome and Beckwith Wiedemann syndrome) and cancers are associated with loss of imprinting (LOI) at particular loci. Over recent years, there has been increasing evidence that LOI is not only an isolated event occurring at a given locus involved in a particular syndrome, but that many patients with a given syndrome have multilocus imprinting defects affecting both parental alleles. This new evidence demonstrates that these anomalies occur during the post-fertilization period of fetal development and raises the question of what mechanisms lead to these multilocus imprinting defects. Identification of the factors involved in the maintenance and/or the establishment of imprinting is undoubtedly crucial for understanding both the mechanisms underlying imprinting regulation and which disruptions lead to these complex diseases. |
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Authors:
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Salah Azzi; Sylvie Rossignol; Yves Le Bouc; Irène Netchine |
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Publication Detail:
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Type: Journal Article Date: 2010-07-01 |
Journal Detail:
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Title: Epigenetics : official journal of the DNA Methylation Society Volume: 5 ISSN: 1559-2308 ISO Abbreviation: Epigenetics Publication Date: 2010 Jul |
Date Detail:
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Created Date: 2010-12-14 Completed Date: 2011-04-06 Revised Date: 2011-08-08 |
Medline Journal Info:
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Nlm Unique ID: 101265293 Medline TA: Epigenetics Country: United States |
Other Details:
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Languages: eng Pagination: 373-7 Citation Subset: IM |
Affiliation:
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APHP, Hôpital Armand Trousseau, Laboratoire d’Explorations Fonctionnelles Endocriniennes, INSERM UMR-S938 Team 4, Université Pierre et Marie Curie-Paris 6, Paris, France. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Beckwith-Wiedemann Syndrome
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genetics* DNA Methylation Epigenesis, Genetic Genomic Imprinting / genetics* Humans Silver-Russell Syndrome / genetics* Syndrome |
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