Katsumata N - Search Results

1

U7 snRNA-mediated correction of aberrant splicing caused by activation of cryptic splice sites.

Uchikawa H, Fujii K, Kohno Y, Katsumata N, Nagao K, Yamada M, Miyashita T. Uchikawa H, et al. Among authors: katsumata n. J Hum Genet. 2007;52(11):891-897. doi: 10.1007/s10038-007-0192-8. Epub 2007 Sep 13. J Hum Genet. 2007. PMID: 17851636

2

A novel compound heterozygous mutation in the steroidogenic acute regulatory protein gene in a patient with congenital lipoid adrenal hyperplasia.

Katsumata N, Kawada Y, Yamamoto Y, Noda M, Nimura A, Horikawa R, Tanaka T. Katsumata N, et al. J Clin Endocrinol Metab. 1999 Nov;84(11):3983-7. doi: 10.1210/jcem.84.11.6118. J Clin Endocrinol Metab. 1999. PMID: 10566637

3

A novel missense mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene in a family with classical salt-wasting congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency.

Katsumata N, Tanae A, Yasunaga T, Horikawa R, Tanaka T, Hibi I. Katsumata N, et al. Hum Mol Genet. 1995 Apr;4(4):745-6. doi: 10.1093/hmg/4.4.745. Hum Mol Genet. 1995. PMID: 7633426 No abstract available.

4

Compound heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans.

Katsumata N, Ohtake M, Hojo T, Ogawa E, Hara T, Sato N, Tanaka T. Katsumata N, et al. J Clin Endocrinol Metab. 2002 Aug;87(8):3808-13. doi: 10.1210/jcem.87.8.8763. J Clin Endocrinol Metab. 2002. PMID: 12161514

5

Mastermind-like domain-containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testosterone production, and contains the SF1 target sequence.

Fukami M, Wada Y, Okada M, Kato F, Katsumata N, Baba T, Morohashi K, Laporte J, Kitagawa M, Ogata T. Fukami M, et al. Among authors: katsumata n. J Biol Chem. 2008 Feb 29;283(9):5525-32. doi: 10.1074/jbc.M703289200. Epub 2007 Dec 27. J Biol Chem. 2008. PMID: 18162467 Free article.

6

X-linked adrenal hypoplasia congenita caused by a novel intronic mutation of the DAX-1 gene.

Goto M, Katsumata N. Goto M, et al. Among authors: katsumata n. Horm Res. 2009;71(2):120-4. doi: 10.1159/000183901. Epub 2009 Jan 8. Horm Res. 2009. PMID: 19129717

7

A novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia. Mutations in brief no. 117. Online.

Katsumata N, Tanae A, Shinagawa T, Nagashima-Miyokawa A, Shimizu M, Yasunaga T, Tanaka T, Hibi I. Katsumata N, et al. Hum Mutat. 1998;11(4):331. doi: 10.1002/(SICI)1098-1004(1998)11:4<331::AID-HUMU12>3.0.CO;2-3. Hum Mutat. 1998. PMID: 10215405

8

A novel and de novo splice-donor site mutation in intron 3 of the GH-1 gene in a patient with isolated growth hormone deficiency.

Katsumata N, Matsuo S, Sato N, Tanaka T. Katsumata N, et al. Growth Horm IGF Res. 2001 Dec;11(6):378-83. doi: 10.1054/ghir.2001.0251. Growth Horm IGF Res. 2001. PMID: 11914025

9

Molecular genetic analysis of MODY candidate genes in Japanese patients with non-obese juvenile onset diabetes mellitus.

Kagami-Takasugi M, Katsumata N, Tanaka T, Tajima T, Fujieda K. Kagami-Takasugi M, et al. Among authors: katsumata n. J Pediatr Endocrinol Metab. 2006 Feb;19(2):143-8. doi: 10.1515/jpem.2006.19.2.143. J Pediatr Endocrinol Metab. 2006. PMID: 16562587

10

Novel intronic CYP21A2 mutation in a Japanese patient with classic salt-wasting steroid 21-hydroxylase deficiency.

Katsumata N, Shinagawa T, Horikawa R, Fujikura K. Katsumata N, et al. Metabolism. 2010 Nov;59(11):1628-32. doi: 10.1016/j.metabol.2010.03.012. Epub 2010 Apr 27. Metabolism. 2010. PMID: 20423741

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