Kubota K - Search Results

1

Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.

Chowdhury F, Wang L, Al-Raqad M, Amor DJ, Baxová A, Bendová Š, Biamino E, Brusco A, Caluseriu O, Cox NJ, Froukh T, Gunay-Aygun M, Hančárová M, Haynes D, Heide S, Hoganson G, Kaname T, Keren B, Kosaki K, Kubota K, Lemons JM, Magriña MA, Mark PR, McDonald MT, Montgomery S, Morley GM, Ohnishi H, Okamoto N, Rodriguez-Buritica D, Rump P, Sedláček Z, Schatz K, Streff H, Uehara T, Walia JS, Wheeler PG, Wiesener A, Zweier C, Kawakami K, Wentzensen IM, Lalani SR, Siu VM, Bi W, Balci TB. Chowdhury F, et al. Among authors: kubota k. Genet Med. 2021 Jul;23(7):1234-1245. doi: 10.1038/s41436-021-01129-6. Epub 2021 Apr 6. Genet Med. 2021. PMID: 33824499 Free article.

2

Genetic variations in MyD88 adaptor-like are associated with atopic dermatitis.

An Y, Ohnishi H, Matsui E, Funato M, Kato Z, Teramoto T, Kaneko H, Kimura T, Kubota K, Kasahara K, Kondo N. An Y, et al. Among authors: kubota k. Int J Mol Med. 2011 Jun;27(6):795-801. doi: 10.3892/ijmm.2011.645. Epub 2011 Mar 8. Int J Mol Med. 2011. PMID: 21399862 Free article.

3

Structural property of soybean protein P34 and specific IgE response to recombinant P34 in patients with soybean allergy.

Morita H, Kaneko H, Ohnishi H, Kato Z, Kubota K, Yamamoto T, Matsui E, Teramoto T, Fukao T, Kasahara K, Kondo N. Morita H, et al. Among authors: kubota k. Int J Mol Med. 2012 Feb;29(2):153-8. doi: 10.3892/ijmm.2011.841. Epub 2011 Nov 16. Int J Mol Med. 2012. PMID: 22102143

4

In vitro analysis of the functional effects of an NLRP3 G809S variant with the co-existence of MEFV haplotype variants in atypical autoinflammatory syndrome.

Kubota K, Ohnishi H, Teramoto T, Matsui E, Murase K, Kanoh H, Kato Z, Kaneko H, Seishima M, Kondo N. Kubota K, et al. J Clin Immunol. 2013 Feb;33(2):325-34. doi: 10.1007/s10875-012-9805-x. Epub 2012 Sep 27. J Clin Immunol. 2013. PMID: 23015306

5

Clinical and genetic characterization of Japanese sporadic cases of periodic Fever, aphthous stomatitis, pharyngitis and adenitis syndrome from a single medical center in Japan.

Kubota K, Ohnishi H, Teramoto T, Kawamoto N, Kasahara K, Ohara O, Kondo N. Kubota K, et al. J Clin Immunol. 2014 Jul;34(5):584-93. doi: 10.1007/s10875-014-0043-2. Epub 2014 Apr 24. J Clin Immunol. 2014. PMID: 24760114

6

De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.

Ohba C, Haginoya K, Osaka H, Kubota K, Ishiyama A, Hiraide T, Komaki H, Sasaki M, Miyatake S, Nakashima M, Tsurusaki Y, Miyake N, Tanaka F, Saitsu H, Matsumoto N. Ohba C, et al. Among authors: kubota k. J Hum Genet. 2015 Dec;60(12):739-42. doi: 10.1038/jhg.2015.108. Epub 2015 Sep 10. J Hum Genet. 2015. PMID: 26354034

7

The first report of Japanese patients with asparagine synthetase deficiency.

Yamamoto T, Endo W, Ohnishi H, Kubota K, Kawamoto N, Inui T, Imamura A, Takanashi JI, Shiina M, Saitsu H, Ogata K, Matsumoto N, Haginoya K, Fukao T. Yamamoto T, et al. Among authors: kubota k. Brain Dev. 2017 Mar;39(3):236-242. doi: 10.1016/j.braindev.2016.09.010. Epub 2016 Oct 12. Brain Dev. 2017. PMID: 27743885

8

POLR3A variants in striatal involvement without diffuse hypomyelination.

Hiraide T, Kubota K, Kono Y, Watanabe S, Matsubayashi T, Nakashima M, Kaname T, Fukao T, Shimozawa N, Ogata T, Saitsu H. Hiraide T, et al. Among authors: kubota k. Brain Dev. 2020 Apr;42(4):363-368. doi: 10.1016/j.braindev.2019.12.012. Epub 2020 Jan 10. Brain Dev. 2020. PMID: 31932101

9

Alice in Wonderland syndrome associated with influenza virus infection.

Kubota K, Shikano H, Fujii H, Nakashima Y, Ohnishi H. Kubota K, et al. Pediatr Int. 2020 Dec;62(12):1391-1393. doi: 10.1111/ped.14341. Epub 2020 Nov 3. Pediatr Int. 2020. PMID: 33145932 No abstract available.

10

Development of a system adapted for the diagnosis and evaluation of peroxisomal disorders by measuring bile acid intermediates.

Kawai H, Takashima S, Ohba A, Toyoshi K, Kubota K, Ohnishi H, Shimozawa N. Kawai H, et al. Among authors: kubota k. Brain Dev. 2023 Jan;45(1):58-69. doi: 10.1016/j.braindev.2022.10.001. Epub 2022 Oct 29. Brain Dev. 2023. PMID: 36511274

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