Aoki 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. Among authors: aoki y. 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

Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes.

Wataya K, Akanuma J, Cavadini P, Aoki Y, Kure S, Invernizzi F, Yoshida I, Kira J, Taroni F, Matsubara Y, Narisawa K. Wataya K, et al. Among authors: aoki y. Hum Mutat. 1998;11(5):377-86. doi: 10.1002/(SICI)1098-1004(1998)11:5<377::AID-HUMU5>3.0.CO;2-E. Hum Mutat. 1998. PMID: 9600456

3

Heterogeneous mutations in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia.

Takahashi K, Akanuma J, Matsubara Y, Fujii K, Kure S, Suzuki Y, Wataya K, Sakamoto O, Aoki Y, Ogasawara M, Ohura T, Miyabayashi S, Narisawa K. Takahashi K, et al. Among authors: aoki y. Am J Med Genet. 2000 May 15;92(2):90-4. Am J Med Genet. 2000. PMID: 10797430

4

Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations.

Yang X, Aoki Y, Li X, Sakamoto O, Hiratsuka M, Gibson KM, Kure S, Narisawa K, Matsubara Y, Suzuki Y. Yang X, et al. Among authors: aoki y. J Hum Genet. 2000;45(6):358-62. doi: 10.1007/s100380070008. J Hum Genet. 2000. PMID: 11185745

5

Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia.

Kure S, Kojima K, Kudo T, Kanno K, Aoki Y, Suzuki Y, Shinka T, Sakata Y, Narisawa K, Matsubara Y. Kure S, et al. Among authors: aoki y. J Hum Genet. 2001;46(7):378-84. doi: 10.1007/s100380170057. J Hum Genet. 2001. PMID: 11450847

6

Lack of evidence for a significant association between nonsyndromic cleft lip with or without cleft palate and the retinoic acid receptor alpha gene in the Japanese population.

Kanno K, Suzuki Y, Yang X, Yamada A, Aoki Y, Kure S, Matsubara Y. Kanno K, et al. Among authors: aoki y. J Hum Genet. 2002;47(6):269-74. doi: 10.1007/s100380200038. J Hum Genet. 2002. PMID: 12111375

7

Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia.

Kure S, Kojima K, Ichinohe A, Maeda T, Kalmanchey R, Fekete G, Berg SZ, Filiano J, Aoki Y, Suzuki Y, Izumi T, Matsubara Y. Kure S, et al. Among authors: aoki y. Ann Neurol. 2002 Nov;52(5):643-6. doi: 10.1002/ana.10367. Ann Neurol. 2002. PMID: 12402263

8

Dinucleotide repeat polymorphism in 65k-glutamate decarboxylase gene.

Kure S, Aoki Y, Shinka T, Sakata Y, Matsubara Y, Narisawa K. Kure S, et al. Among authors: aoki y. Jpn J Hum Genet. 1997 Sep;42(3):429-31. doi: 10.1007/BF02766944. Jpn J Hum Genet. 1997. PMID: 12503190 No abstract available.

9

Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafness.

Kudo T, Kure S, Ikeda K, Xia AP, Katori Y, Suzuki M, Kojima K, Ichinohe A, Suzuki Y, Aoki Y, Kobayashi T, Matsubara Y. Kudo T, et al. Among authors: aoki y. Hum Mol Genet. 2003 May 1;12(9):995-1004. doi: 10.1093/hmg/ddg116. Hum Mol Genet. 2003. PMID: 12700168

10

Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion.

Kayano S, Kure S, Suzuki Y, Kanno K, Aoki Y, Kondo S, Schutte BC, Murray JC, Yamada A, Matsubara Y. Kayano S, et al. Among authors: aoki y. J Hum Genet. 2003;48(12):622-628. doi: 10.1007/s10038-003-0089-0. Epub 2003 Nov 15. J Hum Genet. 2003. PMID: 14618417

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