Inoue S - Search Results

1

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

Moriya M, Inoue S, Miyagawa-Tomita S, Nakashima Y, Oba D, Niihori T, Hashi M, Ohnishi H, Kure S, Matsubara Y, Aoki Y. Moriya M, et al. Among authors: inoue s. Hum Mol Genet. 2015 Dec 20;24(25):7349-60. doi: 10.1093/hmg/ddv435. Epub 2015 Oct 15. Hum Mol Genet. 2015. PMID: 26472072

2

Activated Braf induces esophageal dilation and gastric epithelial hyperplasia in mice.

Inoue SI, Takahara S, Yoshikawa T, Niihori T, Yanai K, Matsubara Y, Aoki Y. Inoue SI, et al. Hum Mol Genet. 2017 Dec 1;26(23):4715-4727. doi: 10.1093/hmg/ddx354. Hum Mol Genet. 2017. PMID: 28973166

3

Mice with an Oncogenic HRAS Mutation are Resistant to High-Fat Diet-Induced Obesity and Exhibit Impaired Hepatic Energy Homeostasis.

Oba D, Inoue SI, Miyagawa-Tomita S, Nakashima Y, Niihori T, Yamaguchi S, Matsubara Y, Aoki Y. Oba D, et al. Among authors: inoue si. EBioMedicine. 2018 Jan;27:138-150. doi: 10.1016/j.ebiom.2017.11.029. Epub 2017 Dec 6. EBioMedicine. 2018. PMID: 29254681 Free PMC article.

4

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

Inoue SI, Morozumi N, Yoshikiyo K, Maeda H, Aoki Y. Inoue SI, et al. Hum Mol Genet. 2019 Jan 1;28(1):74-83. doi: 10.1093/hmg/ddy333. Hum Mol Genet. 2019. PMID: 30239744

5

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

Umeki I, Niihori T, Abe T, Kanno SI, Okamoto N, Mizuno S, Kurosawa K, Nagasaki K, Yoshida M, Ohashi H, Inoue SI, Matsubara Y, Fujiwara I, Kure S, Aoki Y. Umeki I, et al. Among authors: inoue si. Hum Genet. 2019 Jan;138(1):21-35. doi: 10.1007/s00439-018-1951-7. Epub 2018 Oct 27. Hum Genet. 2019. PMID: 30368668

6

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

Takahara S, Inoue SI, Miyagawa-Tomita S, Matsuura K, Nakashima Y, Niihori T, Matsubara Y, Saiki Y, Aoki Y. Takahara S, et al. Among authors: inoue si. EBioMedicine. 2019 Apr;42:43-53. doi: 10.1016/j.ebiom.2019.03.014. Epub 2019 Mar 18. EBioMedicine. 2019. PMID: 30898653 Free PMC article.

7

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

Inoue S, Moriya M, Watanabe Y, Miyagawa-Tomita S, Niihori T, Oba D, Ono M, Kure S, Ogura T, Matsubara Y, Aoki Y. Inoue S, et al. Hum Mol Genet. 2014 Dec 15;23(24):6553-66. doi: 10.1093/hmg/ddu376. Epub 2014 Jul 17. Hum Mol Genet. 2014. PMID: 25035421

8

Recent advances in RASopathies.

Aoki Y, Niihori T, Inoue S, Matsubara Y. Aoki Y, et al. Among authors: inoue s. J Hum Genet. 2016 Jan;61(1):33-9. doi: 10.1038/jhg.2015.114. Epub 2015 Oct 8. J Hum Genet. 2016. PMID: 26446362 Review.

9

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

Yaoita M, Niihori T, Mizuno S, Okamoto N, Hayashi S, Watanabe A, Yokozawa M, Suzumura H, Nakahara A, Nakano Y, Hokosaki T, Ohmori A, Sawada H, Migita O, Mima A, Lapunzina P, Santos-Simarro F, García-Miñaúr S, Ogata T, Kawame H, Kurosawa K, Ohashi H, Inoue S, Matsubara Y, Kure S, Aoki Y. Yaoita M, et al. Among authors: inoue s. Hum Genet. 2016 Feb;135(2):209-22. doi: 10.1007/s00439-015-1627-5. Epub 2015 Dec 29. Hum Genet. 2016. PMID: 26714497

10

Germline-Activating RRAS2 Mutations Cause Noonan Syndrome.

Niihori T, Nagai K, Fujita A, Ohashi H, Okamoto N, Okada S, Harada A, Kihara H, Arbogast T, Funayama R, Shirota M, Nakayama K, Abe T, Inoue SI, Tsai IC, Matsumoto N, Davis EE, Katsanis N, Aoki Y. Niihori T, et al. Among authors: inoue si. Am J Hum Genet. 2019 Jun 6;104(6):1233-1240. doi: 10.1016/j.ajhg.2019.04.014. Epub 2019 May 23. Am J Hum Genet. 2019. PMID: 31130285 Free PMC article.

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