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Conference Paper: NSD1 mutations in Sotos syndrome alter the DNA methylation landscape of genes involved in somatic growth and neuronal transmission

TitleNSD1 mutations in Sotos syndrome alter the DNA methylation landscape of genes involved in somatic growth and neuronal transmission
Authors
Grafodatskaya, DInbar-Feigenberg, MChung, BHYCytrynbaum, CChoufani, S
Issue Date2012
PublisherAmerican Society of Human Genetics.
Citation
The 62nd Annual Meeting of the American Society of Human Genetics (ASHG 2012), San Francisco, CA., 6-10 November 2012. How to Cite?
AbstractSotos syndrome (OMIM 117550) is a rare genetic overgrowth disorder associated with malformations and neurodevelopmental problems including intellectual and behavioural issues. Individuals with Sotos syndrome are haploinsufficient for NSD1 (nuclear receptor-binding SET domain protein 1), a histone lysine methyltransferase important for multiple aspects of normal development. Recently, NSD1 was shown to bind near various promoter elements, regulating multiple genes via interactions with H3K36me and RNA polymerase II. These data suggest a potential role for NSD1 in regulating trans…
Persistent Identifierhttp://hdl.handle.net/10722/183250

 

DC FieldValueLanguage
dc.contributor.authorGrafodatskaya, Den_US
dc.contributor.authorInbar-Feigenberg, Men_US
dc.contributor.authorChung, BHYen_US
dc.contributor.authorCytrynbaum, Cen_US
dc.contributor.authorChoufani, Sen_US
dc.date.accessioned2013-05-15T01:50:32Z-
dc.date.available2013-05-15T01:50:32Z-
dc.date.issued2012en_US
dc.identifier.citationThe 62nd Annual Meeting of the American Society of Human Genetics (ASHG 2012), San Francisco, CA., 6-10 November 2012.en_US
dc.identifier.urihttp://hdl.handle.net/10722/183250-
dc.description.abstractSotos syndrome (OMIM 117550) is a rare genetic overgrowth disorder associated with malformations and neurodevelopmental problems including intellectual and behavioural issues. Individuals with Sotos syndrome are haploinsufficient for NSD1 (nuclear receptor-binding SET domain protein 1), a histone lysine methyltransferase important for multiple aspects of normal development. Recently, NSD1 was shown to bind near various promoter elements, regulating multiple genes via interactions with H3K36me and RNA polymerase II. These data suggest a potential role for NSD1 in regulating trans…-
dc.languageengen_US
dc.publisherAmerican Society of Human Genetics.-
dc.relation.ispartofAnnual Meeting of the American Society of Human Genetics, ASHG 2012en_US
dc.titleNSD1 mutations in Sotos syndrome alter the DNA methylation landscape of genes involved in somatic growth and neuronal transmissionen_US
dc.typeConference_Paperen_US
dc.identifier.emailGrafodatskaya, D: rweksb@sickkids.caen_US
dc.identifier.emailChung, BHY: bhychung@hku.hk-
dc.identifier.authorityChung, BHY=rp00473en_US
dc.description.naturelink_to_OA_fulltext-
dc.identifier.hkuros214054en_US
dc.publisher.placeUnited States-
dc.customcontrol.immutablesml 130605-

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