Naiki Y - Search Results

1

Characterization of two novel homozygous missense mutations involving codon 6 and 259 of type II 3beta-hydroxysteroid dehydrogenase (3betaHSD) gene causing, respectively, nonsalt-wasting and salt-wasting 3betaHSD deficiency disorder.

Zhang L, Mason JI, Naiki Y, Copeland KC, Castro-Magana M, Gordon-Walker TT, Chang YT, Pang S. Zhang L, et al. Among authors: naiki y. J Clin Endocrinol Metab. 2000 Apr;85(4):1678-85. doi: 10.1210/jcem.85.4.6539. J Clin Endocrinol Metab. 2000. PMID: 10770215

2

Congenital anaemia associated with loss-of-function variants in DNA polymerase epsilon 1.

Takeuchi I, Tanase-Nakao K, Ogawa A, Sugawara T, Migita O, Kashima M, Yamazaki T, Iguchi A, Naiki Y, Uchiyama T, Tamaoki J, Maeda H, Shimizu H, Kawai T, Taniguchi K, Hirata H, Kobayashi M, Matsumoto K, Naruse K, Hata K, Akutsu H, Kato T, Narumi S, Arai K, Ishiguro A. Takeuchi I, et al. Among authors: naiki y. J Med Genet. 2024 Feb 21;61(3):239-243. doi: 10.1136/jmg-2023-109444. J Med Genet. 2024. PMID: 37833059 Free article.

3

Comparison of physician- and self-assessed pubertal onset in Japanese children.

Saito-Abe M, Nishizato M, Yamamoto-Hanada K, Yang L, Fukami M, Ito Y, Ihara K, Iwabuchi A, Okamoto S, Naiki Y, Ohya Y, Horikawa R. Saito-Abe M, et al. Among authors: naiki y. Front Pediatr. 2023 Mar 21;11:950541. doi: 10.3389/fped.2023.950541. eCollection 2023. Front Pediatr. 2023. PMID: 37025288 Free PMC article.

4

A nonsense mutation (TGG [Trp116]-->TAG [Stop]) in CYP11B1 causes steroid 11 beta-hydroxylase deficiency.

Naiki Y, Kawamoto T, Mitsuuchi Y, Miyahara K, Toda K, Orii T, Imura H, Shizuta Y. Naiki Y, et al. J Clin Endocrinol Metab. 1993 Dec;77(6):1677-82. doi: 10.1210/jcem.77.6.7903314. J Clin Endocrinol Metab. 1993. PMID: 7903314

5

A novel single-base substitution (380C>T) that activates a 5-base downstream cryptic splice-acceptor site within exon 5 in almost all transcripts in the human mitochondrial acetoacetyl-CoA thiolase gene.

Nakamura K, Fukao T, Perez-Cerda C, Luque C, Song XQ, Naiki Y, Kohno Y, Ugarte M, Kondo N. Nakamura K, et al. Among authors: naiki y. Mol Genet Metab. 2001 Feb;72(2):115-21. doi: 10.1006/mgme.2000.3125. Mol Genet Metab. 2001. PMID: 11161837

6

A novel mutation (c.951C>T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl-CoA thiolase gene.

Fukao T, Horikawa R, Naiki Y, Tanaka T, Takayanagi M, Yamaguchi S, Kondo N. Fukao T, et al. Among authors: naiki y. Mol Genet Metab. 2010 Aug;100(4):339-44. doi: 10.1016/j.ymgme.2010.03.012. Epub 2010 Mar 19. Mol Genet Metab. 2010. PMID: 20488739

7

Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients.

Fukami M, Horikawa R, Nagai T, Tanaka T, Naiki Y, Sato N, Okuyama T, Nakai H, Soneda S, Tachibana K, Matsuo N, Sato S, Homma K, Nishimura G, Hasegawa T, Ogata T. Fukami M, et al. Among authors: naiki y. J Clin Endocrinol Metab. 2005 Jan;90(1):414-26. doi: 10.1210/jc.2004-0810. Epub 2004 Oct 13. J Clin Endocrinol Metab. 2005. PMID: 15483095

8

Extra-adrenal induction of Cyp21a1 ameliorates systemic steroid metabolism in a mouse model of congenital adrenal hyperplasia.

Naiki Y, Miyado M, Horikawa R, Katsumata N, Onodera M, Pang S, Ogata T, Fukami M. Naiki Y, et al. Endocr J. 2016 Oct 29;63(10):897-904. doi: 10.1507/endocrj.EJ16-0112. Epub 2016 Jul 14. Endocr J. 2016. PMID: 27432820 Free article.

9

Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.

Sato N, Katsumata N, Kagami M, Hasegawa T, Hori N, Kawakita S, Minowada S, Shimotsuka A, Shishiba Y, Yokozawa M, Yasuda T, Nagasaki K, Hasegawa D, Hasegawa Y, Tachibana K, Naiki Y, Horikawa R, Tanaka T, Ogata T. Sato N, et al. Among authors: naiki y. J Clin Endocrinol Metab. 2004 Mar;89(3):1079-88. doi: 10.1210/jc.2003-030476. J Clin Endocrinol Metab. 2004. PMID: 15001591

10

Congenitally defective aldosterone biosynthesis in humans: the involvement of point mutations of the P-450C18 gene (CYP11B2) in CMO II deficient patients.

Mitsuuchi Y, Kawamoto T, Naiki Y, Miyahara K, Toda K, Kuribayashi I, Orii T, Yasuda K, Miura K, Nakao K, et al. Mitsuuchi Y, et al. Among authors: naiki y. Biochem Biophys Res Commun. 1992 Jan 31;182(2):974-9. doi: 10.1016/0006-291x(92)91827-d. Biochem Biophys Res Commun. 1992. PMID: 1346492

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