Add to ORKGSotos syndrome (SS) is characterized by somatic overgrowth and intellectual disability. Most SS cases (>75%) have mutations in NSD1 (nuclear receptor-binding SET domain protein 1). NSD1 binds near promoter elements and regulates transcription initiation and elongation via interactions with H3-K36Me and RNA polymerase II. To determine if NSD1 mutations impact stable epigenetic marks such as DNA methylation (DNAm), we compared DNAm in peripheral blood DNA from SS cases with NSD1 mutations (NSD1+/-; n=20) to controls (n=30) using the Illumina Infinium450methylation BeadChip. Differential DNAm analysis using non-parametric statistics (with correction for multiple testing) coupled with permutation analyses identified a surprisingly high number (...
Sotos syndrome is a childhood overgrowth syndrome characterized by a distinctive facial appearance, ...
Background: Inactivating NSD1 mutations causing Sotos syndrome have been previously associated with ...
Background: Inactivating NSD1 mutations causing Sotos syndrome have been previously associated with ...
Session - 32. Molecular Insights into Mendelian Disorders: no. 130Sotos syndrome (SS) is characteriz...
Sotos syndrome (OMIM 117550) is a rare genetic overgrowth disorder associated with malformations and...
International audienceBACKGROUND: Overgrowth conditions are a heterogeneous group of disorders chara...
International audienceBACKGROUND: Overgrowth conditions are a heterogeneous group of disorders chara...
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...
Sotos syndrome is an autosomal dominant condition characterized by overgrowth resulting in tall stat...
Recently, deletions encompassing the nuclear receptor binding SET-Domain 1 (NSD1) gene have been des...
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, ...
Background: Inactivating NSD1 mutations causing Sotos syndrome have been previously associated with ...
Background: Inactivating NSD1 mutations causing Sotos syndrome have been previously associated with ...
Session - 32. Molecular Insights into Mendelian Disorders: no. 130Sotos syndrome (SS) is characteriz...
Sotos syndrome (OMIM 117550) is a rare genetic overgrowth disorder associated with malformations and...
International audienceBACKGROUND: Overgrowth conditions are a heterogeneous group of disorders chara...
International audienceBACKGROUND: Overgrowth conditions are a heterogeneous group of disorders chara...
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...
Sotos syndrome is an autosomal dominant condition characterized by overgrowth resulting in tall stat...
Recently, deletions encompassing the nuclear receptor binding SET-Domain 1 (NSD1) gene have been des...
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, ...
Background: Inactivating NSD1 mutations causing Sotos syndrome have been previously associated with ...
Background: Inactivating NSD1 mutations causing Sotos syndrome have been previously associated with ...