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1. Newborn screening for congenital adrenal hyperplasia in Tokyo, Japan from 1989 to 2013: a retrospective population-based study.BMC Pediatrics (2015) 15:209
Atsumi Tsuji, Kaoru Konishi, Satomi Hasegawa, Akira Anazawa, Toshikazu Onishi, Makoto Ono, Tomohiro Morio, Teruo Kitagawa and Kenichi Kashimada* (*: contributed as a corresponding author)
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2. Improved growth velocity of a patient with Noonan-like syndrome with loose anagen hair (NS/LAH) without growth hormone deficiency by low-dose growth hormone therapy.Am J Med Genet A. 2015 Oct;167A(10):2425-9.
Takasawa K, Takishima S, Morioka C, Nishioka M, Ohashi H, Aoki Y, Shimohira M, Kashimada K*, Morio T. (*: contributed as a corresponding author)
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3. Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B).Bone. 2015 Oct;79:15-20
Takatani R, Minagawa M, Molinaro A, Reyes M, Kinoshita K, Takatani T, Kazukawa I, Nagatsuma M, Kashimada K, Sato K, Matsushita K, Nomura F, Shimojo N, J?ppner H.
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4. Clinical, biochemical, and genetic features of non-classical 21-hydroxylase deficiency in Japanese children.2015;62(3):277-82.
Kashimada K*, Ishii T* (*: equally contributed), Nagasaki K, Ono M, Tajima T, Yokota I and Hasegawa Y, Endocrine J
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5. A 45,X/46,XY DSD (Disorder of Sexual Development) case with an extremely uneven distribution of 46,XY cells between lymphocytes and gonads.Clin Pediatr Endocrinol. 2015 Jan;24(1):11-4.
Nomura R, Miyai K, Okada M, Kajiwara M, Ono M, Ogata T, Onishi I, Sato M, Sekine M, Akashi T, Mizutani S, Kashimada K.
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6. TALEN-Mediated Gene Disruption on Y Chromosome Reveals Critical Role of EIF2S3Y in Mouse Spermatogenesis.Stem Cells Dev. 2015 May 15;24(10):1164-70A
Matsubara Y, Kato T, Kashimada K, Tanaka H, Zhi Z, Ichinose S, Mizutani S, Morio T, Chiba T, Ito Y, Saga Y, Takada S, Asahara H.
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7. Urinary calcium to creatinine ratio: a potential marker of secondary hyperparathyroidism in patients with vitamin D-dependent rickets type 1A.Endocr J. 2015;62(1):61-8.
Miyai K, Onishi T, Kashimada K, Hasegawa Y.
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8. Transcription activator-like effector nuclease-mediated transduction of exogenous gene into IL2RG locus.Sci Rep. 2014 May 23;4:5043
Matsubara Y, Chiba T, Kashimada K, Morio T, Takada S, Mizutani S, Asahara H.
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9. site-specific, single-copy transgenesis strategy to identify 5' regulatory sequences of the mouse testis-determining gene Sry.PLoS One. 2014 Apr 17;9(4):e94813.
Kashimada K*, Quinn A*, (*: equally contributed), Davidson TL, Ng ET, Chawengsaksophak K, Bowles J, Koopman P.
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10. FOXL2 transcriptionally represses Sf1 expression by antagonizing WT1 during ovarian development in mice.FASEB J. 2014 May;28(5):2020-8.
Takasawa K, Kashimada K*, Pelosi E, Takagi M, Morio T, Asahara H, Schlessinger D, Mizutani S, Koopman P, (*: contributed as a corresponding author)
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11. Two novel HSD3B2 missense mutations with diverse residual enzymatic activities for Δ5-steroids.Clin Endocrinol (Oxf). 2014 Jun;80(6):782-9.
Takasawa K, Ono M, Hijikata A, Matsubara Y, Katsumata N, Takagi M, Morio T, Ohara O, Kashimada K*, Mizutani S. (*: contributed as a corresponding author)
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12. Longitudinal analysis of growth and body composition of Japanese 21-OHD patients in childhood.Endocrine Journal 2013;60(2):149-54. Epub 2012 Sep 28.
Matsubara Y, Ono M, Miyai K, Takizawa F, Takasawa K, Onishi T, Kashimada K*, Mizutani S.(*: contributed as a corresponding author)
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13. Initial high dose hydrocortisone (HDC) treatment for 21-hydroxylase deficiency (21-OHD) does not affect linear growth during the first three years of life. Endocr J. 2012;59(11):1001-6. Epub 2012 Jul 10.
Takasawa K, Ono M, Miyai K, Matsubara Y, Takizawa F, Onishi T, Kashimada K*, Mizutani S.(*: contributed as a corresponding author)
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14. Antagonistic regulation of Cyp26b1 by transcription factors SOX9/SF1 and FOXL2 during gonadal development in mice. FASEB J. 2011 Oct;25(10):3561-9.
Kashimada K, Svingen T, Feng CW, Pelosi E, Bagheri-Fam S, Harley VR, Schlessinger D, Bowles J, Koopman P.
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15. FOXL2 and BMP2 act cooperatively to regulate follistatin gene expression during ovarian development. Endocrinology. 2011 Jan;152(1):272-80.
Kashimada K, Pelosi E, Chen H, Schlessinger D, Wilhelm D, Koopman P.
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16. Sry: the master switch in mammalian sex determination. Development. 2010 Dec;137(23):3921-30. Review.
Kashimada K, Koopman P.
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17. Two Preterm Infants with Late Onset Circulatory Collapse Induced by Levothyroxine Sodium. Pediatr Int. 2010 Jun;52(3):e154-7
Takizawa F, Kashimada K*, Enomoto K, Miyai K, Ono M, Asada G, Shimizu J, Mizutani S. (*: contributed as a corresponding author)
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18. Identification of suitable normalizing genes for quantitative real-time RT-PCR analysis of gene expression in fetal mouse gonads. Sex Dev. 2009;3(4):194-204. 2009
Svingen T, Spiller CM, Kashimada K, Harley VR, Koopman P.
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19. Clinical Course of Patients with Nonclassical 21-Hydroxylase Deficiency (21-OHD) Diagnosed in Infancy and Childhood. Endocr J. 2008 May;55(2):397-404
Kashimada K, Ono M, Onishi T, Koyama S, Toyoura T, Imai K, Saisho S, Mizutani S.
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20. Two cases of transient pseudohypoaldosteronism due to group B streptococcus pyelonephritis. Pediatr Nephrol. 2008 Sep;23(9):1569-70.2008 15
Kashimada K, Omori T, Takizawa F, Mizutani S.
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21. In Vitro Enzyme Assay of CYP21A2 Mutation (R483Q) by A Novel Method Using Liquid Chromatography-Electrospray Ionization Tandem Mass Spectrometry (LC-ESI-MS/MS). Clin Pediatr Endocrinol. 2008 May;17(2):49-56
Ono M, Kashimada K, Miyai K, Onishi T, Takagi M, Honma S, Mizutani S.
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22. Liquid chromatography-tandem mass spectrometric method for determination of salivary 17alpha-hydroxyprogesterone: a noninvasive tool for evaluating efficacy of hormone replacement therapy in congenital adrenal hyperplasia. J Chromatogr B Analyt Technol Biomed Life Sci. 2008 1;867(1):49-56
Shibayama Y, Higashi T, Shimada K, Kashimada K, Onishi T, Ono M, Miyai K, Mizutani S.
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23. A boy with "transient" growth hormone deficiency in prepubertal stage despite normal growth hormone secretion in childhood and after puberty. Endocr J. 2007;54(6):1015-9. Epub 2007 Nov 14.
Kashimada K, Onishi T, Ono M, Miyai K, Ohta M, Mizutani S.
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24. Identification of a new case of hepatocyte nuclear factor-1beta mutation with highly varied phenotypes. Diabetologia. 2004 ;47 (6):1128-9.
Shihara N, Horikawa Y, Onishi T, Ono M, Kashimada K, Takeda J.
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25. RMRP mutations in Japanese patients with cartilage-hair hypoplasia.Am J Med Genet A. 2003;123 (3):253-6.
Nakashima E, Mabuchi A, Kashimada K, Onishi T, Zhang J, Ohashi H, Nishimura G, Ikegawa S.
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26. Defects in growth and bone metabolism in klotho mutant mice are resistant to GH treatment. J Endocrinol. 2002;174 (3):403-10.
Kashimada K, Yamashita T, Tsuji K, Nifuji A, Mizutani S, Nabeshima Y, Noda M.
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27. A highly specific heterologous enzyme immunoassay for 5 alpha-androstane-3 alpha, 17 beta-diol 17-glucuronide (androstanediol-17G) and developmental patterns of urinary androstanediol-17G excretions. Steroids 2002;67 (3-4):175-83
Onishi T, Takei H, Kambegawa A, Saisho S, Kashimada K, Koyama S, Mizutani S, Rao PN.
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28. Klotho-deficient mice are resistant to bone loss induced by unloading due to sciaticneurectomy. J Endocrinol. 2001;168 (2):347-51.
Yamashita T, Sekiya I, Kawaguchi N, Kashimada K, Nifuji A, Nabeshima YI, Noda M.
