FASEB J.
DNA methylation analysis of multiple imprinted DMRs in Sotos syndrome reveals IGF2-DMR0 as a DNA methylation-dependent, P0 promoter-specific enhancer.
Watanabe H, Higashimoto K, Miyake N, Morita S, Horii T, Kimura M, Suzuki T, Maeda T, Hidaka H, Aoki S, Yatsuki H, Okamoto N, Uemura T, Hatada I, Matsumoto N, Soejima H
Haploinsufficiency of NSD1, which dimethylates histone H3 lysine 36 (H3K36), causes Sotos syndrome (SoS), an overgrowth syndrome. DNMT3A and DNMT3B re ...
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Source: PubMed
Genes Brain Behav. 2020 Jan 07
Investigating cortical features of Sotos syndrome using mice heterozygous for Nsd1.
Oishi S, Zalucki O, Vega MS, Harkins D, Harvey TJ, Kasherman M, Davila RA, Hale L, White M, Piltz S, Thomas P, Burne THJ, Harris L, Piper M
Sotos syndrome is a developmental disorder characterized by a suite of clinical features. In children, the three cardinal features of Sotos syndrome a ...
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Source: PubMed
