Inoue SI - Search Results

1

Q241R mutation of Braf causes neurological abnormalities in a mouse model of cardio-facio-cutaneous syndrome, independent of developmental malformations.

Moriya A, Inoue SI, Saitow F, Keitoku M, Suzuki N, Oike E, Urano E, Matsumoto E, Suzuki H, Aoki Y, Ohnishi H. Moriya A, et al. Among authors: inoue si. Hum Mol Genet. 2025 Jan 8:ddae196. doi: 10.1093/hmg/ddae196. Online ahead of print. Hum Mol Genet. 2025. PMID: 39774818

2

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. 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

3

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

4

Recent advances in RASopathies.

Aoki Y, Niihori T, Inoue S, Matsubara Y. Aoki Y, et al. 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.

5

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

6

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

7

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

Aoki Y, Niihori T, Banjo T, Okamoto N, Mizuno S, Kurosawa K, Ogata T, Takada F, Yano M, Ando T, Hoshika T, Barnett C, Ohashi H, Kawame H, Hasegawa T, Okutani T, Nagashima T, Hasegawa S, Funayama R, Nagashima T, Nakayama K, Inoue S, Watanabe Y, Ogura T, Matsubara Y. Aoki Y, et al. Am J Hum Genet. 2013 Jul 11;93(1):173-80. doi: 10.1016/j.ajhg.2013.05.021. Epub 2013 Jun 20. Am J Hum Genet. 2013. PMID: 23791108 Free PMC article.

8

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

9

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.

10

LZTR1 facilitates polyubiquitination and degradation of RAS-GTPases.

Abe T, Umeki I, Kanno SI, Inoue SI, Niihori T, Aoki Y. Abe T, et al. Among authors: inoue si. Cell Death Differ. 2020 Mar;27(3):1023-1035. doi: 10.1038/s41418-019-0395-5. Epub 2019 Jul 23. Cell Death Differ. 2020. PMID: 31337872 Free PMC article.

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