N Katsumata

Summary

Affiliation: National Research Institute for Child Health and Development
Country: Japan

Publications

  1. ncbi request reprint 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
    N Katsumata
    Department of Endocrinology and Metabolism, National Children s Medical Research Center, Tokyo 154 8509, Japan
    Growth Horm IGF Res 11:378-83. 2001
  2. ncbi request reprint Compound heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans
    Noriyuki Katsumata
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo 154 8567, Japan
    J Clin Endocrinol Metab 87:3808-13. 2002
  3. ncbi request reprint Novel missense mutation in the P-box of androgen receptor in a patient with androgen insensitivity syndrome
    Noriyuki Katsumata
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan
    Endocr J 55:225-8. 2008
  4. doi request reprint Novel intronic CYP21A2 mutation in a Japanese patient with classic salt-wasting steroid 21-hydroxylase deficiency
    Noriyuki Katsumata
    Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157 8535, Japan
    Metabolism 59:1628-32. 2010
  5. doi request reprint Novel CYP17A1 mutation in a Japanese patient with combined 17alpha-hydroxylase/17,20-lyase deficiency
    Noriyuki Katsumata
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo 157 8535, Japan
    Metabolism 59:275-8. 2010
  6. ncbi request reprint New compound heterozygous mutation in the CYP17 gene in a 46,XY girl with 17 alpha-hydroxylase/17,20-lyase deficiency
    N Katsumata
    Department of Endocrinology and Metabolism, National Children's Medical Research Center, 3-35-31 Taishido, Setagaya-ku, Tokyo 154-8509, Japan
    Horm Res 55:141-6. 2001
  7. ncbi request reprint A novel compound heterozygous mutation in the steroidogenic acute regulatory protein gene in a patient with congenital lipoid adrenal hyperplasia
    N Katsumata
    Department of Endocrinology and Metabolism, National Children s Medical Research Center, Tokyo, Japan
    J Clin Endocrinol Metab 84:3983-7. 1999
  8. ncbi request reprint A new compound heterozygous mutation in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess
    S Kitanaka
    Department of Endocrinology and Metabolism, National Children s Medical Research Center, Tokyo, Japan
    J Clin Endocrinol Metab 82:4054-8. 1997
  9. ncbi request reprint G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia
    N Katsumata
    Department of Endocrinology and Metabolism, National Children s Medical Research Center, Tokyo, Japan
    Endocr J 45:S171-4. 1998
  10. ncbi request reprint 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
    N Katsumata
    Department of Endocrinology and Metabolism, National Children s Medical Research Center, National Children s Hospital, Tokyo, Japan
    Hum Mol Genet 4:745-6. 1995

Collaborators

Detail Information

Publications27

  1. ncbi request reprint 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
    N Katsumata
    Department of Endocrinology and Metabolism, National Children s Medical Research Center, Tokyo 154 8509, Japan
    Growth Horm IGF Res 11:378-83. 2001
    ..These findings indicate that the IVS3 + 6T --> G mutation arose in a germ cell of the father and caused IGHD in the patient...
  2. ncbi request reprint Compound heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans
    Noriyuki Katsumata
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo 154 8567, Japan
    J Clin Endocrinol Metab 87:3808-13. 2002
    ..This is the first report of the compound heterozygote for the CYP11A mutations with congenital adrenal insufficiency and the phenotypically normal heterozygote in humans...
  3. ncbi request reprint Novel missense mutation in the P-box of androgen receptor in a patient with androgen insensitivity syndrome
    Noriyuki Katsumata
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan
    Endocr J 55:225-8. 2008
    ....
  4. doi request reprint Novel intronic CYP21A2 mutation in a Japanese patient with classic salt-wasting steroid 21-hydroxylase deficiency
    Noriyuki Katsumata
    Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157 8535, Japan
    Metabolism 59:1628-32. 2010
    ..In conclusion, the patient is a homozygote for the novel intronic IVS9-9C>A mutation, which affects messenger RNA splicing and totally inactivates 21-hydroxylase to give rise to clinically manifest classic salt-wasting 21-OHD...
  5. doi request reprint Novel CYP17A1 mutation in a Japanese patient with combined 17alpha-hydroxylase/17,20-lyase deficiency
    Noriyuki Katsumata
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo 157 8535, Japan
    Metabolism 59:275-8. 2010
    ....
  6. ncbi request reprint New compound heterozygous mutation in the CYP17 gene in a 46,XY girl with 17 alpha-hydroxylase/17,20-lyase deficiency
    N Katsumata
    Department of Endocrinology and Metabolism, National Children's Medical Research Center, 3-35-31 Taishido, Setagaya-ku, Tokyo 154-8509, Japan
    Horm Res 55:141-6. 2001
    ....
  7. ncbi request reprint A novel compound heterozygous mutation in the steroidogenic acute regulatory protein gene in a patient with congenital lipoid adrenal hyperplasia
    N Katsumata
    Department of Endocrinology and Metabolism, National Children s Medical Research Center, Tokyo, Japan
    J Clin Endocrinol Metab 84:3983-7. 1999
    ..Together, these results indicate that this patient is a compound heterozygote for the mutation in the StAR gene (T217R and A218V) and that these mutations inactivate the StAR function and give rise to clinically manifest CLAH...
  8. ncbi request reprint A new compound heterozygous mutation in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess
    S Kitanaka
    Department of Endocrinology and Metabolism, National Children s Medical Research Center, Tokyo, Japan
    J Clin Endocrinol Metab 82:4054-8. 1997
    ....
  9. ncbi request reprint G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia
    N Katsumata
    Department of Endocrinology and Metabolism, National Children s Medical Research Center, Tokyo, Japan
    Endocr J 45:S171-4. 1998
    ..In conclusion, we have identified the G370C mutation in the FGFR3 gene in a Japanese TD1 patient...
  10. ncbi request reprint 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
    N Katsumata
    Department of Endocrinology and Metabolism, National Children s Medical Research Center, National Children s Hospital, Tokyo, Japan
    Hum Mol Genet 4:745-6. 1995
  11. ncbi request reprint Serum protein determination by high-performance gel-permeation chromatography
    K Hayakawa
    Laboratory of Metabolism, National Children s Medical Research Center, Tokyo, Japan
    J Chromatogr B Biomed Sci Appl 696:19-23. 1997
    ..The analysis time was less than 1 min. Since this HPGPC serum protein assay method is simple and rapid, it is expected to be particularly well adapted for use in clinical laboratories...
  12. ncbi request reprint Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1
    Tomonobu Hasegawa
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    J Clin Endocrinol Metab 89:5930-5. 2004
    ..The results suggest that SF-1 haploinsufficiency can selectively impair testicular development and permit the biosynthesis of AMH and testosterone in dysgenetic testes and the production of gonadotropins in pituitary gonadotropes...
  13. ncbi request reprint Homozygous mutation of P450 side-chain cleavage enzyme gene (CYP11A1) in 46, XY patient with adrenal insufficiency, complete sex reversal, and agenesis of corpus callosum
    Hessa al Kandari
    King Fahad Hospital, King Abdul Aziz Medical City, P O Box 22490, Pediatric Department 1510, Riyadh 11426, Kingdom of Saudi Arabia
    J Clin Endocrinol Metab 91:2821-6. 2006
    ..Defective enzyme activity leads to the deficiency of all steroid hormones, including progesterone, which is essential to sustain term pregnancy...
  14. ncbi request reprint Mastermind-like domain-containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testosterone production, and contains the SF1 target sequence
    Maki Fukami
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo 157 8535, Japan
    J Biol Chem 283:5525-32. 2008
    ..We designate CXorf6 as MAMLD1 (mastermind-like domain-containing 1) based on its characteristic structure...
  15. ncbi request reprint Determination of specific activities and kinetic constants of biotinidase and lipoamidase in LEW rat and Lactobacillus casei (Shirota)
    Kou Hayakawa
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, 2 10 1 Okura, Setagaya Ku, Tokyo 157 8535, Japan
    J Chromatogr B Analyt Technol Biomed Life Sci 844:240-50. 2006
    ..Therefore, this HPLC determination method for the enzyme kinetic parameters in tissues is expected to be an indispensable tool for the investigation of the various diseases in humans...
  16. doi request reprint Determination of biotin (vitamin H) by the high-performance affinity chromatography with a trypsin-treated avidin-bound column
    Kou Hayakawa
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan
    J Chromatogr B Analyt Technol Biomed Life Sci 869:93-100. 2008
    ..This affinity-chromatographic method for biotin determination was shown to be a robust and reliable and is well suited for biochemical and nutritional research...
  17. ncbi request reprint Two cases of Allgrove syndrome with mutations in the AAAS gene
    Saori Kinjo
    Department of Endocrinology and Metabolism, Fukuoka Children s Hospital, Japan
    Endocr J 51:473-7. 2004
    ..These findings indicate that there exist significant clinical variability and mutational heterogeneities in Japanese patients with this syndrome...
  18. ncbi request reprint 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
    Naoko Sato
    National Research Institute for Child Health and Development, Tokyo 154 8567, Japan
    J Clin Endocrinol Metab 89:1079-88. 2004
    ....
  19. ncbi request reprint Nonclassic steroid 21-hydroxylase deficiency due to a homozygous V281L mutation in CYP21A2 detected by the neonatal mass-screening program in Japan
    Takashi Shinagawa
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan
    Endocr J 54:1021-5. 2007
    ....
  20. ncbi request reprint Sibling cases of Addison's disease caused by DAX-1 gene mutations
    Yoshihiro Sekiguchi
    Division of Endocrinology, Ohme Municipal General Hospital, Tokyo
    Intern Med 46:35-9. 2007
    ..However, yet-uncharacterized epigenetic, nongenetic and/or genetic factors other than the DAX-1 gene may be responsible for the differential onset of AHC in these sibling cases...
  21. ncbi request reprint [Turner syndrome]
    Noriyuki Katsumata
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development
    Nihon Rinsho . 2006
  22. ncbi request reprint Replacement of alanine with asparagic acid at position 203 in human steroidogenic acute regulatory protein impairs the ability to enhance steroidogenesis in vitro
    Noriyuki Katsumata
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan
    Endocr J 53:427-31. 2006
    ..Together, these results indicate that the alanine at position 203 in human StAR is functionally important and that the D203 StAR is extremely unlikely to be a polymorphism...
  23. ncbi request reprint A nationwide attempt to standardize growth hormone assays
    Toshiaki Tanaka
    The GH and Its Related Factors Study Committee, The Foundation for Growth Science, Tokyo, Japan
    Horm Res 64:6-11. 2005
    ..As a result the diagnostic cut-off peak GH has changed from 10 to 6 ng/ml...
  24. ncbi request reprint [Growth hormone-binding protein (GHBP)]
    Noriyuki Katsumata
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development
    Nihon Rinsho 63:183-5. 2005
  25. ncbi request reprint Analysis of the AAAS gene in a Japanese patient with triple A syndrome
    Noriyuki Katsumata
    Department of Endocrinology and Metabolism, National Children s Medical Research Center, Tokyo, Japan
    Endocr J 49:49-53. 2002
    ..To our knowledge, this is the first report on AAAS gene mutations in Japan...
  26. ncbi request reprint Novel compound heterozygous AIRE mutations in a Japanese patient with APECED
    Utako Sato
    Division of Endocrinology and Metabolism, Department of Medicine, National Center for Child Health and Development, Tokyo, Japan
    J Pediatr Endocrinol Metab 17:917-21. 2004
    ..The other was a G-->A transition at IVS11+1. Her mother was heterozygous for 1471 delCinsTT and was normal homozygous for IVS11+1. We found novel compound heterozygous mutations in the AIRE gene of a Japanese female with APECED...
  27. ncbi request reprint The comparison of the effects of short-term growth hormone treatment in patients with achondroplasia and with hypochondroplasia
    Noriko Tanaka
    Department of Growth and Puberty, National Research Institute for Child Health and Development, Tokyo 154 8567, Japan
    Endocr J 50:69-75. 2003
    ..Further studies would be required to confirm the other beneficial effects of GH treatment such as increase in bone mineral density in ACH and HCH and the effect on the final height...