Aoki Y - Search Results

1

A Pilot Study for Return of Individual Pharmacogenomic Results to Population-Based Cohort Study Participants.

Ohneda K, Hiratsuka M, Kawame H, Nagami F, Suzuki Y, Suzuki K, Uruno A, Sakurai-Yageta M, Hamanaka Y, Taira M, Ogishima S, Kuriyama S, Hozawa A, Tomita H, Minegishi N, Sugawara J, Danjoh I, Nakamura T, Kobayashi T, Yamaguchi-Kabata Y, Tadaka S, Obara T, Hishimuma E, Mano N, Matsuura M, Sato Y, Nakasone M, Honkura Y, Suzuki J, Katori Y, Kakuta Y, Masamune A, Aoki Y, Nakayama M, Kure S, Kinoshita K, Fuse N, Yamamoto M. Ohneda K, et al. Among authors: aoki y. JMA J. 2022 Apr 15;5(2):177-189. doi: 10.31662/jmaj.2021-0156. Epub 2022 Mar 11. JMA J. 2022. PMID: 35611229 Free PMC article.

2

[Cloning of the holocarboxylase synthetase cDNA and identification of mutations prevalent in Japanese HCS-deficient patients].

Narisawa K, Suzuki Y, Aoki Y. Narisawa K, et al. Among authors: aoki y. Nihon Rinsho. 1996 Jan;54(1):259-67. Nihon Rinsho. 1996. PMID: 8587199 Review. Japanese.

3

Identification of holocarboxylase synthetase (HCS) proteins in human placenta.

Hiratsuka M, Sakamoto O, Li X, Suzuki Y, Aoki Y, Narisawa K. Hiratsuka M, et al. Among authors: aoki y. Biochim Biophys Acta. 1998 Jun 11;1385(1):165-71. doi: 10.1016/s0167-4838(98)00032-6. Biochim Biophys Acta. 1998. PMID: 9630604

4

Molecular analysis of new Japanese patients with holocarboxylase synthetase deficiency.

Sakamoto O, Suzuki Y, Aoki Y, Li X, Hiratsuka M, Yanagihara K, Inui K, Okabe T, Yamaguchi S, Kudoh J, Shimizu N, Narisawa K. Sakamoto O, et al. Among authors: aoki y. J Inherit Metab Dis. 1998 Dec;21(8):873-4. doi: 10.1023/a:1005435121933. J Inherit Metab Dis. 1998. PMID: 9870216 No abstract available.

5

Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency.

Aoki Y, Li X, Sakamoto O, Hiratsuka M, Akaishi H, Xu L, Briones P, Suormala T, Baumgartner ER, Suzuki Y, Narisawa K. Aoki Y, et al. Hum Genet. 1999 Feb;104(2):143-8. doi: 10.1007/s004390050927. Hum Genet. 1999. PMID: 10190325

6

Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency.

Sakamoto O, Suzuki Y, Li X, Aoki Y, Hiratsuka M, Suormala T, Baumgartner ER, Gibson KM, Narisawa K. Sakamoto O, et al. Among authors: aoki y. Pediatr Res. 1999 Dec;46(6):671-6. doi: 10.1203/00006450-199912000-00004. Pediatr Res. 1999. PMID: 10590022

7

Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiency.

Sakamoto O, Suzuki Y, Li X, Aoki Y, Hiratsuka M, Holme E, Kudoh J, Shimizu N, Narisawa K. Sakamoto O, et al. Among authors: aoki y. Eur J Pediatr. 2000 Jan-Feb;159(1-2):18-22. doi: 10.1007/s004310050004. Eur J Pediatr. 2000. PMID: 10653324

8

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

9

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

10

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

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