Kato K - Search Results

1

Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome.

Oka Y, Hamada M, Nakazawa Y, Muramatsu H, Okuno Y, Higasa K, Shimada M, Takeshima H, Hanada K, Hirano T, Kawakita T, Sakaguchi H, Ichimura T, Ozono S, Yuge K, Watanabe Y, Kotani Y, Yamane M, Kasugai Y, Tanaka M, Suganami T, Nakada S, Mitsutake N, Hara Y, Kato K, Mizuno S, Miyake N, Kawai Y, Tokunaga K, Nagasaki M, Kito S, Isoyama K, Onodera M, Kaneko H, Matsumoto N, Matsuda F, Matsuo K, Takahashi Y, Mashimo T, Kojima S, Ogi T. Oka Y, et al. Among authors: kato k. Sci Adv. 2020 Dec 18;6(51):eabd7197. doi: 10.1126/sciadv.abd7197. Print 2020 Dec. Sci Adv. 2020. PMID: 33355142 Free PMC article.

2

Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1.

Yamamoto-Shimojima K, Imaizumi T, Aoki Y, Inoue K, Kaname T, Okuno Y, Muramatsu H, Kato K, Yamamoto T. Yamamoto-Shimojima K, et al. Among authors: kato k. J Hum Genet. 2019 Jul;64(7):665-671. doi: 10.1038/s10038-019-0600-x. Epub 2019 Apr 19. J Hum Genet. 2019. PMID: 31004103

3

Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease.

Nakamura Y, Kato K, Tsuchida N, Matsumoto N, Takahashi Y, Saitoh S. Nakamura Y, et al. Among authors: kato k. PLoS One. 2019 Aug 20;14(8):e0221482. doi: 10.1371/journal.pone.0221482. eCollection 2019. PLoS One. 2019. PMID: 31430354 Free PMC article.

4

Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex.

Kato K, Oka Y, Muramatsu H, Vasilev FF, Otomo T, Oishi H, Kawano Y, Kidokoro H, Nakazawa Y, Ogi T, Takahashi Y, Saitoh S. Kato K, et al. J Med Genet. 2020 Apr;57(4):245-253. doi: 10.1136/jmedgenet-2019-106213. Epub 2019 Nov 11. J Med Genet. 2020. PMID: 31712251

5

Novel biallelic FA2H mutations in a Japanese boy with fatty acid hydroxylase-associated neurodegeneration.

Kawaguchi M, Sassa T, Kidokoro H, Nakata T, Kato K, Muramatsu H, Okuno Y, Yamamoto H, Kaname T, Kihara A, Natsume J. Kawaguchi M, et al. Among authors: kato k. Brain Dev. 2020 Feb;42(2):217-221. doi: 10.1016/j.braindev.2019.11.006. Epub 2019 Dec 16. Brain Dev. 2020. PMID: 31837835

6

Novel compound heterozygous MCOLN1 mutations identified in a Japanese girl with severe developmental delay and thin corpus callosum.

Yamaguchi N, Ban K, Suzuki A, Nakamura Y, Kato K, Muramatsu H, Okuno Y, Hattori A, Kaname T, Takahashi Y, Saitoh S. Yamaguchi N, et al. Among authors: kato k. Brain Dev. 2020 Mar;42(3):298-301. doi: 10.1016/j.braindev.2019.12.003. Epub 2019 Dec 31. Brain Dev. 2020. PMID: 31899079

7

Severe achondroplasia due to two de novo variants in the transmembrane domain of FGFR3 on the same allele: A case report.

Nagata T, Matsushita M, Mishima K, Kamiya Y, Kato K, Toyama M, Ogi T, Ishiguro N, Kitoh H. Nagata T, et al. Among authors: kato k. Mol Genet Genomic Med. 2020 Mar;8(3):e1148. doi: 10.1002/mgg3.1148. Epub 2020 Jan 23. Mol Genet Genomic Med. 2020. PMID: 31975530 Free PMC article.

8

Phosphorylated proteome analysis of a novel germline ABL1 mutation causing an autosomal dominant syndrome with ventricular septal defect.

Yamamoto H, Hayano S, Okuno Y, Onoda A, Kato K, Nagai N, Fukasawa Y, Saitoh S, Takahashi Y, Kato T. Yamamoto H, et al. Among authors: kato t, kato k. Int J Cardiol. 2021 Mar 1;326:81-87. doi: 10.1016/j.ijcard.2020.10.032. Epub 2020 Oct 17. Int J Cardiol. 2021. PMID: 33075386

9

Expanding the phenotype of biallelic loss-of-function variants in the NSUN2 gene: Description of four individuals with juvenile cataract, chronic nephritis, or brain anomaly as novel complications.

Kato K, Mizuno S, Morton J, Toyama M, Hara Y, Wasmer E, Lehmann A, Ogi T. Kato K, et al. Am J Med Genet A. 2021 Jan;185(1):282-285. doi: 10.1002/ajmg.a.61927. Epub 2020 Oct 20. Am J Med Genet A. 2021. PMID: 33084202

10

A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders.

Kato K, Miya F, Oka Y, Mizuno S, Saitoh S. Kato K, et al. J Hum Genet. 2021 May;66(5):491-498. doi: 10.1038/s10038-020-00868-9. Epub 2020 Oct 31. J Hum Genet. 2021. PMID: 33130828

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

9,896 results

Search Page

Filters