Hirotomo Saitsu

1. De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy
   2013/08/29 by Kazuyuki Nakamura, Hirofumi Kodera, Tenpei Akita +24 · 31 citations
   Biochemistry, Genetics and Molecular Biology · #Receptor Mechanisms and Signaling #Cellular transport and secretion #Protein Kinase Regulation and GTPase Signaling
2. Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders
   2017/07/25 by Elliot Sollis, Pelagia Deriziotis, Hirotomo Saitsu +9 · 1 voice · 3 citations
   Biochemistry, Genetics and Molecular Biology · #RNA modifications and cancer #RNA and protein synthesis mechanisms #Congenital heart defects research
3. Coffin–Siris syndrome is a SWI/SNF complex disorder
   2013/07/01 by Y. Tsurusaki, Yoshinori Tsurusaki, Nobuhiko Okamoto +30 · 1 citation
   Biochemistry, Genetics and Molecular Biology · Medicine · #Cancer Mechanisms and Therapy #Chromatin Remodeling and Cancer #Genomics and Chromatin Dynamics