Ozono K - Search Results

1

Japanese patient with Cole-carpenter syndrome with compound heterozygous variants of SEC24D.

Takeyari S, Kubota T, Miyata K, Yamamoto K, Nakayama H, Yamamoto K, Ohata Y, Kitaoka T, Yanagi K, Kaname T, Ozono K. Takeyari S, et al. Among authors: ozono k. Am J Med Genet A. 2018 Dec;176(12):2882-2886. doi: 10.1002/ajmg.a.40643. Epub 2018 Nov 21. Am J Med Genet A. 2018. PMID: 30462379

2

Bone marrow-derived osteoclast-like cells from a patient with craniometaphyseal dysplasia lack expression of osteoclast-reactive vacuolar proton pump.

Yamamoto T, Kurihara N, Yamaoka K, Ozono K, Okada M, Yamamoto K, Matsumoto S, Michigami T, Ono J, Okada S. Yamamoto T, et al. Among authors: ozono k. J Clin Invest. 1993 Jan;91(1):362-7. doi: 10.1172/JCI116194. J Clin Invest. 1993. PMID: 7678608 Free PMC article.

3

Mutational analysis of the DTDST gene in a fetus with achondrogenesis type 1B.

Cai G, Nakayama M, Hiraki Y, Ozono K. Cai G, et al. Among authors: ozono k. Am J Med Genet. 1998 Jun 16;78(1):58-60. Am J Med Genet. 1998. PMID: 9637425

4

Loss of the SEDL gene product (Sedlin) causes X-linked spondyloepiphyseal dysplasia tarda: Identification of a molecular defect in a Japanese family.

Matsui Y, Yasui N, Ozono K, Yamagata M, Kawabata H, Yoshikawa H. Matsui Y, et al. Among authors: ozono k. Am J Med Genet. 2001 Apr 1;99(4):328-30. doi: 10.1002/ajmg.1179. Am J Med Genet. 2001. PMID: 11252002

5

Hyperintensity of posterior pituitary on MR T1WI in a boy with central diabetes insipidus caused by missense mutation of neurophysin II gene.

Kubota T, Yamamoto T, Ozono K, Shimotsuji T. Kubota T, et al. Among authors: ozono k. Endocr J. 2001 Aug;48(4):459-63. doi: 10.1507/endocrj.48.459. Endocr J. 2001. PMID: 11603568 Free article.

6

[Regulation of bone mineralization by enzymes].

Kubota T, Ozono K. Kubota T, et al. Among authors: ozono k. Clin Calcium. 2004 Jun;14(6):23-7. Clin Calcium. 2004. PMID: 15577050 Review. Japanese.

7

[Osteoporosis associated with gene mutation].

Ozono K, Kubota T. Ozono K, et al. Clin Calcium. 2003 Dec;13(12):1523-9. Clin Calcium. 2003. PMID: 15775238 Japanese.

8

[Albright hereditary osteodystrophy].

Kitaoka T, Ozono K. Kitaoka T, et al. Among authors: ozono k. Nihon Rinsho. 2006 Jun 28;Suppl 2:61-5. Nihon Rinsho. 2006. PMID: 16817351 Review. Japanese. No abstract available.

9

Clinical phenotype and endocrinological investigations in a patient with a mutation in the MCT8 thyroid hormone transporter.

Namba N, Etani Y, Kitaoka T, Nakamoto Y, Nakacho M, Bessho K, Miyoshi Y, Mushiake S, Mohri I, Arai H, Taniike M, Ozono K. Namba N, et al. Among authors: ozono k. Eur J Pediatr. 2008 Jul;167(7):785-91. doi: 10.1007/s00431-007-0589-6. Epub 2007 Sep 25. Eur J Pediatr. 2008. PMID: 17899191

10

PTH/cAMP/PKA signaling facilitates canonical Wnt signaling via inactivation of glycogen synthase kinase-3beta in osteoblastic Saos-2 cells.

Suzuki A, Ozono K, Kubota T, Kondou H, Tachikawa K, Michigami T. Suzuki A, et al. Among authors: ozono k. J Cell Biochem. 2008 May 1;104(1):304-17. doi: 10.1002/jcb.21626. J Cell Biochem. 2008. PMID: 17990294

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