Add to ORKGSotos 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…link_to_OA_fulltex
Sotos syndrome is a childhood overgrowth syndrome characterized by a distinctive facial appearance, ...
Sotos syndrome is characterized by pre- and post-natal overgrowth, typical craniofacial features, ad...
International audienceEpigenetic regulations, that comprise histone modifications and DNA methylatio...
Sotos syndrome (SS) is characterized by somatic overgrowth and intellectual disability. Most SS case...
Nuclear receptor-binding SET-domain protein 1 (NSD1), a methyltransferase that catalyzes H3K36me2, i...
Nuclear receptor-binding SET-domain protein 1 (NSD1), a methyltransferase that catalyzes H3K36me2, i...
Most histone methyltransferases (HMTase) harbor a predicted Su(var)3–9, Enhancer-of-zeste, Trithorax...
Most histone methyltransferases (HMTase) harbor a predicted Su(var)3–9, Enhancer-of-zeste, Trithorax...
Recently, deletions encompassing the nuclear receptor binding SET-Domain 1 (NSD1) gene have been des...
Recently, deletions encompassing the nuclear receptor binding SET-Domain 1 (NSD1) gene have been des...
Recently, deletions encompassing the nuclear receptor binding SET-Domain 1 (NSD1) gene have been des...
Recently, deletions encompassing the nuclear receptor binding SET-Domain 1 (NSD1) gene have been des...
Session - 32. Molecular Insights into Mendelian Disorders: no. 130Sotos syndrome (SS) is characteriz...
Sotos syndrome is an autosomal dominant condition characterized by overgrowth resulting in tall stat...
Sotos syndrome is a childhood overgrowth syndrome characterized by a distinctive facial appearance, ...
Sotos syndrome is a childhood overgrowth syndrome characterized by a distinctive facial appearance, ...
Sotos syndrome is characterized by pre- and post-natal overgrowth, typical craniofacial features, ad...
International audienceEpigenetic regulations, that comprise histone modifications and DNA methylatio...
Sotos syndrome (SS) is characterized by somatic overgrowth and intellectual disability. Most SS case...
Nuclear receptor-binding SET-domain protein 1 (NSD1), a methyltransferase that catalyzes H3K36me2, i...
Nuclear receptor-binding SET-domain protein 1 (NSD1), a methyltransferase that catalyzes H3K36me2, i...
Most histone methyltransferases (HMTase) harbor a predicted Su(var)3–9, Enhancer-of-zeste, Trithorax...
Most histone methyltransferases (HMTase) harbor a predicted Su(var)3–9, Enhancer-of-zeste, Trithorax...
Recently, deletions encompassing the nuclear receptor binding SET-Domain 1 (NSD1) gene have been des...
Recently, deletions encompassing the nuclear receptor binding SET-Domain 1 (NSD1) gene have been des...
Recently, deletions encompassing the nuclear receptor binding SET-Domain 1 (NSD1) gene have been des...
Recently, deletions encompassing the nuclear receptor binding SET-Domain 1 (NSD1) gene have been des...
Session - 32. Molecular Insights into Mendelian Disorders: no. 130Sotos syndrome (SS) is characteriz...
Sotos syndrome is an autosomal dominant condition characterized by overgrowth resulting in tall stat...
Sotos syndrome is a childhood overgrowth syndrome characterized by a distinctive facial appearance, ...
Sotos syndrome is a childhood overgrowth syndrome characterized by a distinctive facial appearance, ...
Sotos syndrome is characterized by pre- and post-natal overgrowth, typical craniofacial features, ad...
International audienceEpigenetic regulations, that comprise histone modifications and DNA methylatio...