Shin-Ichi Inoue

发表

Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.

Toshihiko Ogura, Kenji Kurosawa, Yoichi Matsubara, 2013, American journal of human genetics.

Recent advances in RASopathies

Yoichi Matsubara, Y. Matsubara, T. Niihori, 2015, Journal of Human Genetics.

Costello syndrome model mice with a HrasG12S/+ mutation are susceptible to develop house dust mite-induced atopic dermatitis

S. Aiba, T. Niihori, Y. Aoki, 2020, Cell Death & Disease.

C‐type natriuretic peptide improves growth retardation in a mouse model of cardio‐facio‐cutaneous syndrome

Y. Aoki, Shin-Ichi Inoue, Hiroaki Maeda, 2018, Human molecular genetics.

New Noonan syndrome model mice with RIT1 mutation exhibit cardiac hypertrophy and susceptibility to β-adrenergic stimulation-induced cardiac fibrosis

Y. Matsubara, S. Miyagawa-Tomita, T. Niihori, 2019, EBioMedicine.

Germline-Activating RRAS2 Mutations Cause Noonan Syndrome.

N. Katsanis, K. Nakayama, N. Matsumoto, 2019, American journal of human genetics.

New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome.

T. Ogura, M. Ono, Y. Matsubara, 2014, Human molecular genetics.

Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations

O. Migita, P. Lapunzina, T. Ogata, 2016, Human Genetics.

Activated Braf induces esophageal dilation and gastric epithelial hyperplasia in mice

T. Yoshikawa, Y. Matsubara, T. Niihori, 2017, Human molecular genetics.

Adult mice expressing a Braf Q241R mutation on an ICR/CD-1 background exhibit a cardio-facio-cutaneous syndrome phenotype.

Y. Matsubara, S. Miyagawa-Tomita, T. Niihori, 2015, Human molecular genetics.

Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1–PPP1CB complexes

H. Ohashi, Y. Matsubara, N. Okamoto, 2018, Human Genetics.