役職名 小児科助教(学内講師)
所 属 小児科学講座
氏 名 向井徳男
専門分野 内分泌学(成長・発達)・糖尿病学・遺伝学
出身大学(期) 北海道大学医学部(66期)
出身高校 室蘭栄
国内・国外留学など
九州大学大学院医学系研究科、基礎生物学研究所
所属学会・
専門医

日本小児科学会(専門医)、日本小児内分泌学会(評議員)、日本内分泌学会(内分泌代謝科(小児科)専門医)、日本糖尿病学会、日本分子生物学会、The Endocrine Society
専門詳細 小児内分泌学、小児糖尿病学
研究テーマ・内容
  • 副腎・生殖腺の発生・分化とその異常
  • 性分化のメカニズムとその異常
    DAX-1、StARと相互作用する因子を同定するべく酵母のtwo-hybrid systemを用いて実験を進めている。その他、先天性内分泌疾患全般(特に副腎、性腺疾患)の遺伝子診断を行っている。
一 言 人間の成長・発達に関わることができるということが小児科の魅力だと思います。中でも成長障害に最も深く関わる小児内分泌学は小児科の醍醐味と言えるかもしれません。将来の社会を担う子供たちを大切にしていきたいと思っています。
英文業績
(1996〜2007)
  • Nakae J, Tajima T, Kusuda S, Kohda N, Okabe T, Shinohara N, Kato M, Murashita M, Mukai T, Imanaka K, Fujieda K: Truncation at the C-terminus of the DAX-1 protein impairs its biological actions in patients with X-linked adrenal hypoplasia congenita. J Clin Endocrinol Metab. 81: 3680-3685, 1996
  • Kimura R, Yoshii H, Nomura M, Kotomura N, Mukai T, Ishihara S, Ohba K, Yanase T, Gotoh O, Nawata H, Morohashi K: Identification of novel first exons in Ad4BP/SF-1 (NR5A1) gene and their tissue- and species-specific usage. Biochem Biophys Res Commun. 278(1): 63-71, 2000
  • Shibata H, Ikeda Y, Morohashi K, Mukai T, Kurihara I, Ando T, Suzuki T, Kobayashi S, Hayashi K, Hayashi M, Saito I, Saruta: Orphan receptors COUP-TF and DAX-1 as targets in disordered CYP17 expression in adrenocortical tumors. Endocr Res. 26(4): 1039-1044, 2000
  • Okuhara K, Tajima T, Mukai T, Nakae J, Fujieda K: A novel mutation of SRY gene in one Japanese patient with XY female. J Hum Genet. 45: 112-114, 2000
  • Morohashi K, Mukai T, Kawabe K, Suzuki, Mizusaki H, Ishiharal S, Umesono K, Kawajiri K. Adrenocortical and gonadal differentiation regulated by transcription factors, Ad4BP/SF-1 (NR5A1) and Dax-I (NROB1). Endocr Res. 26(4): 953, 2000
  • Morohashi K, Mukai T, Mizusaki H, Kawabe K: Transcription Factors Impricated in the Gonadal and Adrenocortical Development. Proceedings of the 52nd Yamada Conference, Molecular Steroidogenesis. 191-194, 2000
  • Mukai T, Shikayama T, Oka S, Fujieda K, Morohashi K: Expression of Dax-1 in the Adrenal Gland. Proceedings of the 52nd Yamada Conference, Molecular Steroidogenesis. 223-224, 2000
  • Ikeda Y, Takeda Y, Shikayama T, Mukai T, Hisano S, Morohashi K: Comparative localization of Dax-1 and Ad4BP/SF-1 during development of the hypothalamic-pituitary-gonadal axis suggests their closely related and disitnct functions. Dev Dyn. 220(4): 363-376, 2001
  • Shibata H, Ikeda Y, Mukai T, Morohashi K, Kurihara I, Ando T, Suzuki T, Kobayashi S, Murai M, Saito I, Saruta T: Expression profiles of COUP-TF, DAX-1, and SF-1 in the human adrenal gland and adrenocortical tumors: possible implications in steroidogenesis. Mol Genet Metab. 74(1-2): 206-216, 2001
  • Mukai T, Kusaka M, Kawabe K, Goto K, Nawata H, Fujieda K, Morohashi K: Sexually dimorphic expression of Dax-1 in the adrenal cortex. Genes to Cells. 7(7): 717-729, 2002
  • Mizusaki H, Kawabe K, Mukai T, Ariyoshi E, Kasahara M, Yoshioka H, Swain A, Morohashi K: Dax-1 gene transcription is regulated by Wnt4 in the female developing Gonad. Mol Endocrinol. 17(4): 507-519, 2003
  • Ueda O, Fujine M, Mukai T, Ito Y, Fujieda K: A male patient with severe growth retardation, immunodeficiency and diabetes mellitus: a new syndrome? Clin Pediatr Endocrinol. 12(Suppl 20): 47-49, 2003
  • Fujieda K, Okuhara K, Abe S, Tajima T, Mukai T, Nakae J: Molecular pathogenesis of lipoid adrenal hyperplasia and adrenal hypoplasia congenital. J Steroid Biochem Mol Biol. 85: 483-489, 2003
  • Komatsu T, Mizusaki H, Mukai T, Ogawa H, Baba D, Shirakawa M, Hatakeyama S, Nakayama KI, Yamamoto H, Kikuchi A, Morohashi K: SUMO-1 Modification of the Synergy Control Motif of Ad4BP/SF-1 Regulates Synergistic Transcription between Ad4BP/SF-1 and Sox9. Mol Endocrinol. 18(10): 2451-2462, 2004
  • Fujieda K, Nakae J, Mukai T: 3s-Hydroxysteroid Dehydrogenase Deficiency. Encyclopedia of Endocrine Diseases Vol.2, 498-503, 2004
  • Matsuyama M, Mizusaki H, Shimono A, Mukai T, Okumura K, Abe K, Shimada K, Morohashi K: A novel isoform of Vinexin, Vinexin γ, regulates Sox9 gene expression through activation of MAPK cascade in mouse fetal gonad. Genes to Cells. 10(5): 421-434, 2005
  • Franzese A, Brunetti-Pierri N, Spadaro R, Mukai T, Valerio G: Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene. Am J Med Genet. A. 135(1): 72-74, 2005
  • Suzuki S, Mukai T, Uetake K, Sageshima S, Matsuo K, Ueda O, Ito Y, Fujieda K: Permanent neonatal diabetes mellitus with growth disturbance, developmental delay, epilepsy and dysmorphic features. Clin Pediatr Endocrinol. 14(suppl 24): 81-84, 2005
  • Suzuki S, Makita Y, Mukai T, Matsuo K, Ueda O, Fujieda K: Molecular basis of neonatal diabetes in Japanese patients. J Clin Endocrinol Metab. 92(10): 3979-85, 2007