Oba D - Search Results

1

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. Among authors: oba d. 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

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. Among authors: oba d. 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

Somatic BRAF c.1799T>A p.V600E Mosaicism syndrome characterized by a linear syringocystadenoma papilliferum, anaplastic astrocytoma, and ocular abnormalities.

Watanabe Y, Shido K, Niihori T, Niizuma H, Katata Y, Iizuka C, Oba D, Moriya K, Saito-Nanjo Y, Onuma M, Rikiishi T, Sasahara Y, Watanabe M, Aiba S, Saito R, Sonoda Y, Tominaga T, Aoki Y, Kure S. Watanabe Y, et al. Among authors: oba d. Am J Med Genet A. 2016 Jan;170A(1):189-94. doi: 10.1002/ajmg.a.37376. Epub 2015 Sep 11. Am J Med Genet A. 2016. PMID: 26360803

4

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. 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.

5

NOTCH2 Hajdu-Cheney Mutations Escape SCF^FBW7-Dependent Proteolysis to Promote Osteoporosis.

Fukushima H, Shimizu K, Watahiki A, Hoshikawa S, Kosho T, Oba D, Sakano S, Arakaki M, Yamada A, Nagashima K, Okabe K, Fukumoto S, Jimi E, Bigas A, Nakayama KI, Nakayama K, Aoki Y, Wei W, Inuzuka H. Fukushima H, et al. Among authors: oba d. Mol Cell. 2017 Nov 16;68(4):645-658.e5. doi: 10.1016/j.molcel.2017.10.018. Mol Cell. 2017. PMID: 29149593 Free PMC article.

6

Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 Mutation.

Shimizu K, Oba D, Nambu R, Tanaka M, Oguma E, Murayama K, Ohtake A, Yoshiura KI, Ohashi H. Shimizu K, et al. Among authors: oba d. Mol Genet Genomic Med. 2020 Mar;8(3):e1129. doi: 10.1002/mgg3.1129. Epub 2020 Jan 17. Mol Genet Genomic Med. 2020. PMID: 31953925 Free PMC article.

7

Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG).

Masunaga Y, Nishimura G, Takahashi K, Hishiyama T, Imamura M, Kashimada K, Kadoya M, Wada Y, Okamoto N, Oba D, Ohashi H, Ikeno M, Sakamoto Y, Fukami M, Saitsu H, Ogata T. Masunaga Y, et al. Among authors: oba d. Sci Rep. 2022 Oct 12;12(1):17079. doi: 10.1038/s41598-022-21751-x. Sci Rep. 2022. PMID: 36224347 Free PMC article.

8

iPSC reprogramming-mediated aneuploidy correction in autosomal trisomy syndromes.

Akutsu SN, Miyamoto T, Oba D, Tomioka K, Ochiai H, Ohashi H, Matsuura S. Akutsu SN, et al. Among authors: oba d. PLoS One. 2022 Mar 10;17(3):e0264965. doi: 10.1371/journal.pone.0264965. eCollection 2022. PLoS One. 2022. PMID: 35271616 Free PMC article.

9

Survey on experiences and attitudes of parents toward disclosing information to children with genetic syndromes and their siblings in Japan.

Kaneko M, Oba D, Ohashi H. Kaneko M, et al. Among authors: oba d. Sci Rep. 2022 Sep 8;12(1):15234. doi: 10.1038/s41598-022-19447-3. Sci Rep. 2022. PMID: 36076048 Free PMC article.

10

l-Thyroxine-responsive drop attacks in childhood benign hereditary chorea: A case report.

Shiohama T, Ohashi H, Shimizu K, Fujii K, Oba D, Takatani T, Kato M, Shimojo N. Shiohama T, et al. Among authors: oba d. Brain Dev. 2018 Apr;40(4):353-356. doi: 10.1016/j.braindev.2017.12.008. Epub 2017 Dec 27. Brain Dev. 2018. PMID: 29289388

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