Katata Y - Search Results

1

Costello syndrome model mice with a Hras^G12S/+ mutation are susceptible to develop house dust mite-induced atopic dermatitis.

Katata Y, Inoue SI, Asao A, Kobayashi S, Terui H, Inoue-Shibui A, Abe T, Niihori T, Aiba S, Ishii N, Kure S, Aoki Y. Katata Y, et al. Cell Death Dis. 2020 Aug 13;11(8):617. doi: 10.1038/s41419-020-02845-8. Cell Death Dis. 2020. PMID: 32792500 Free PMC article.

2

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: katata y. 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

3

Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan.

Katata Y, Uematsu M, Sato H, Suzuki S, Nakayama T, Kubota Y, Kobayashi T, Hino-Fukuyo N, Saitsu H, Kure S. Katata Y, et al. Brain Dev. 2016 Mar;38(3):341-5. doi: 10.1016/j.braindev.2015.09.008. Epub 2015 Oct 9. Brain Dev. 2016. PMID: 26443629

4

Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet.

Numata-Uematsu Y, Uematsu M, Yamamoto T, Saitsu H, Katata Y, Oikawa Y, Saijyo N, Inui T, Murayama K, Ohtake A, Osaka H, Takanashi JI, Kure S, Inoue K. Numata-Uematsu Y, et al. Among authors: katata y. Mol Genet Metab Rep. 2021 Sep 4;29:100800. doi: 10.1016/j.ymgmr.2021.100800. eCollection 2021 Dec. Mol Genet Metab Rep. 2021. PMID: 34522618 Free PMC article.

5

Two types of early epileptic encephalopathy in a Pitt-Hopkins syndrome patient with a novel TCF4 mutation.

Kirikae H, Uematsu M, Numata-Uematsu Y, Saijo N, Katata Y, Oikawa Y, Kikuchi A, Yanagi K, Kaname T, Haginoya K, Kure S. Kirikae H, et al. Among authors: katata y. Brain Dev. 2022 Feb;44(2):148-152. doi: 10.1016/j.braindev.2021.09.003. Epub 2021 Sep 24. Brain Dev. 2022. PMID: 34579981

6

The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the ALG14 pathogenic variant.

Katata Y, Uneoka S, Saijyo N, Aihara Y, Miyazoe T, Koyamaishi S, Oikawa Y, Ito Y, Abe Y, Numata-Uematsu Y, Takayama J, Kikuchi A, Tamiya G, Uematsu M, Kure S. Katata Y, et al. Am J Med Genet A. 2022 Apr;188(4):1293-1298. doi: 10.1002/ajmg.a.62629. Epub 2021 Dec 31. Am J Med Genet A. 2022. PMID: 34971077

7

Trapping of CDC42 C-terminal variants in the Golgi drives pyrin inflammasome hyperactivation.

Nishitani-Isa M, Mukai K, Honda Y, Nihira H, Tanaka T, Shibata H, Kodama K, Hiejima E, Izawa K, Kawasaki Y, Osawa M, Katata Y, Onodera S, Watanabe T, Uchida T, Kure S, Takita J, Ohara O, Saito MK, Nishikomori R, Taguchi T, Sasahara Y, Yasumi T. Nishitani-Isa M, et al. Among authors: katata y. J Exp Med. 2022 Jun 6;219(6):e20211889. doi: 10.1084/jem.20211889. Epub 2022 Apr 28. J Exp Med. 2022. PMID: 35482294 Free PMC article.

8

A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor.

Aihara Y, Shirota M, Kikuchi A, Katata Y, Abe Y, Niihori T, Funayama R, Nakayama K, Aoki Y, Kure S. Aihara Y, et al. Among authors: katata y. J Hum Genet. 2023 Jan;68(1):51-54. doi: 10.1038/s10038-022-01082-5. Epub 2022 Sep 27. J Hum Genet. 2023. PMID: 36167772

9

A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor.

Uneoka S, Kobayashi T, Numata-Uematsu Y, Oikawa Y, Katata Y, Okubo Y, Abe Y, Kikuchi A, Takayama J, Tamiya G, Kure S, Saito K, Uematsu M. Uneoka S, et al. Among authors: katata y. Pediatr Neurol. 2023 Sep;146:16-20. doi: 10.1016/j.pediatrneurol.2023.06.002. Epub 2023 Jun 12. Pediatr Neurol. 2023. PMID: 37392669

10

Long-term clinical observation of patients with heterozygous KIF1A variants.

Kawashima A, Kodama K, Okubo Y, Endo W, Inui T, Ikeda M, Katata Y, Togashi N, Ohba C, Imagawa E, Iwama K, Mizuguchi T, Kitami M, Aihara Y, Takayama J, Tamiya G, Kikuchi A, Kure S, Saitsu H, Matsumoto N, Haginoya K. Kawashima A, et al. Among authors: katata y. Am J Med Genet A. 2024 May 17:e63656. doi: 10.1002/ajmg.a.63656. Online ahead of print. Am J Med Genet A. 2024. PMID: 38760879

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