Affiliation: Tohoku University
Takahara S, Inoue S, Miyagawa Tomita S, Matsuura K, Nakashima Y, Niihori T, et al
. New Noonan syndrome model mice with RIT1 mutation exhibit cardiac hypertrophy and susceptibility to β-adrenergic stimulation-induced cardiac fibrosis. EBioMedicine. 2019;: pubmed publisher
..FUND: The Grants-in-Aid were provided by the Practical Research Project for Rare/Intractable Diseases from the Japan Agency for Medical Research and Development, the Japan Society for the Promotion of Science KAKENHI Grant. ..
Umeki I, Niihori T, Abe T, Kanno S, Okamoto N, Mizuno S, et al
. Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes. Hum Genet. 2019;138:21-35 pubmed publisher
..These are the first results to demonstrate LZTR1 in association with the RAF1-PPP1CB complex as a component of the RAS/MAPK pathway. ..
Aoki Y, Niihori T, Banjo T, Okamoto N, Mizuno S, Kurosawa K, et al
. Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. Am J Hum Genet. 2013;93:173-80 pubmed publisher
..These results demonstrate that gain-of-function mutations in RIT1 cause Noonan syndrome and show a similar biological effect to mutations in other RASopathy-related genes. ..
Inoue S, Moriya M, Watanabe Y, Miyagawa Tomita S, Niihori T, Oba D, et al
. New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome. Hum Mol Genet. 2014;23:6553-66 pubmed publisher
Oba D, Inoue S, Miyagawa Tomita S, Nakashima Y, Niihori T, Yamaguchi S, et al
. Mice with an Oncogenic HRAS Mutation are Resistant to High-Fat Diet-Induced Obesity and Exhibit Impaired Hepatic Energy Homeostasis. EBioMedicine. 2018;27:138-150 pubmed publisher
..Our findings suggest that the oncogenic Hras mutation modulates energy homeostasis in vivo. ..
Moriya M, Inoue S, Miyagawa Tomita S, Nakashima Y, Oba D, Niihori T, et al
. Adult mice expressing a Braf Q241R mutation on an ICR/CD-1 background exhibit a cardio-facio-cutaneous syndrome phenotype. Hum Mol Genet. 2015;24:7349-60 pubmed publisher
..These data suggest that the heterozygous Braf(Q241R/+) ICR mice show similar phenotypes as CFC syndrome after birth and will be useful for elucidating the pathogenesis and potential therapeutic strategies for RASopathies. ..
Yaoita M, Niihori T, Mizuno S, Okamoto N, Hayashi S, Watanabe A, et al
. Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. Hum Genet. 2016;135:209-22 pubmed publisher
Hino Fukuyo N, Kikuchi A, Yokoyama H, Iinuma K, Hirose M, Haginoya K, et al
. Long-term outcome of a 26-year-old woman with West syndrome and an nuclear receptor subfamily 2 group F member 1 gene (NR2F1) mutation. Seizure. 2017;50:144-146 pubmed publisher
..Long-term outcome of West syndrome with a NR2F1 mutation. ..