Search for the novel etiology in disorders of sex development (DSD) caused by abnormalities of adrenal glands and gonads.

• Project/Area Number: 16086202
• Research Category: Grant-in-Aid for Scientific Research on Priority Areas
• Allocation Type: Single-year Grants
• Review Section: Biological Sciences
• Research Institution: Asahikawa Medical College
• Principal Investigator: FUJIEDA Kenji Asahikawa Medical College, 医学部, 教授 (60173407)
• Co-Investigator(Kenkyū-buntansha): MUKAI Tokuo 旭川医科大学, 医学部, 助教 (50374799) ; TAJIMA Toshihiro 北海道大学, 大学院・医学研究科, 講師 (50333597) ; SUGAWARA Teruo 小樽商科大学, 商学部, 教授 (40250451)
• Project Period (FY): 2004 – 2008
• Project Status: Completed (Fiscal Year 2008)
• Budget Amount: ¥81,200,000 (Direct Cost: ¥81,200,000); Fiscal Year 2008: ¥14,900,000 (Direct Cost: ¥14,900,000); Fiscal Year 2007: ¥14,900,000 (Direct Cost: ¥14,900,000); Fiscal Year 2006: ¥18,200,000 (Direct Cost: ¥18,200,000); Fiscal Year 2005: ¥16,600,000 (Direct Cost: ¥16,600,000); Fiscal Year 2004: ¥16,600,000 (Direct Cost: ¥16,600,000)
• Keywords: 性分化異常症 (DSD) / 先天性副腎過形成症 / 先天性副腎低形成症 / 相互作用因子 / Antley-Bixler症候群 / POR異常症 / StAR / yeast two-hbrid screening / リポイド過形成症 / DAX-1 / 副腎低形成症 / Ad4BP-SF-1 / アンドロゲン不応症 / yeast two-hybrid screening / 精巣形成不全症 / SBP / 寡少精子症 / 遺伝子多型 / P450 oxidoreductase (POR) / Ad4BP / SFI / P450 oxidoreductase(POR) / 先天性副腎皮質過形成症(CAH) / WT1 / アンドロゲン受容体 / SOX9 / 複合型ステロイド合成障害 / 外陰部異常 / Yeast Two-hybrid Screening

Research Abstract

性分化異常症(disorders of sex development; DSD)のなかで最も頻度が高いステロイドホルモン産生異常症についての新たな成因探索を目的に研究を行い、男女両性にDSDを来す疾患としてP450 oxidoreductase(POR)遺伝子異常を同定し、全く新しい疾患単位であることを世界で初めて示した。さらに転写因子Ad4BP/SF-1の異常により副腎不全を伴わない46, XY DSDが起こることを報告し、病態に異質性があることを示した。また、先天性副腎低形成の原因である転写因子DAX-1異常により副腎異常のみならず精巣機能、精子形成能も障害されることを明らかにした。その他、性分化異常を呈する罹患者においてSOX9遺伝子、AR遺伝子の新規遺伝子変異を同定した。
先天性リポイド過形成症の病因であるStAR蛋白と、X連鎖性先天性副腎低形成症の原因であるDAX-1についてヒト副腎cDNAライブラリーを用いた相互作用因子についてのスクリーニングをyeast two-hybridシステムを用いて行い、候補因子をそれぞれ3種、30種同定した。現在その病因的意義を検討している。
StAR蛋白質と結合するStAR結合蛋白質(StAR Binding Protein(SBP))の遺伝子多型について精子過少症患者において関連解析を行ない、SBP は精子形成に関与し、男性不妊に関連があることを明らかにした。

Research Products

• [Journal Article] Cytochrome P450 oxidoreductase deficiency: Identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients (2009)
  • Author(s): Fukami M, Nishimura G, Homma K, Nagai T, Hanaki K, Uematsu A, Ishii T, Numakura C, Sawada H, Nakacho M, Kowase T, Motomura K, Haruna H, Nakamura M, Ohishi A, Adachi M, Tajima T, Hasegawa Y, Hasegawa T, Horikawa R, Fujieda K, Ogata T
  • Journal Title: J Clin Endocrinol Metab. (in press)
  • Peer Reviewed
• [Journal Article] A novel heterozygous mutation of steroidogenic factor-1 (SF-1/Ad4BP) gene (NR5A1) in a 46, XY disorders of sex development (DSD) patient without adrenal failure (2009)
  • Author(s): Tajima T, Fujiwara F, Fujieda K
  • Journal Title: Endocr J (in press)
  • NAID: 10026914347
  • Peer Reviewed
• [Journal Article] Cytochrome P450 Oxidoreductase Deficiency : Identification and Characterization of Biallelic Mutations and GenotypePhenotype Correlations in 35 Japanese Patients (2009)
  • Author(s): Fukami M, Nishimura G, Homma K, Nagai T, Hanaki K, Uematsu A, Ishii T, Numakura C, Sawada H, Nakacho M, Kowase T, Motomura K, Haruna H, Nakamura M, Ohishi A, Adachi M, Tajima T, Hasegawa Y, Hasegawa T, Horikawa R. Fuiieda K. Oeata T
  • Journal Title: J Clin Endocrinol Metab. (In press)
  • Peer Reviewed
• [Journal Article] A novel heterozygous mutation of steroidogenic factor-1 (SF1/Ad4BP) gene (NR5A1) in a 46, XY disorders of sex development (DSD) patient without adrenal failure (2009)
  • Author(s): Tajima T, Fujiwara F, Fujieda K
  • Journal Title: Endocr J. (In press)
  • NAID: 10026914347
  • Peer Reviewed
• [Journal Article] Four Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by DAX-1 gene mutations: mutant DAX-1 failed to repress steroidogenic acute regulatory protein (StAR) and luteinizing hormone beta-subunit gene promoter activity (2008)
  • Author(s): Okuhara K, Abe S, Kondo T, Fujita K, Koda N, Mochizuki H, Fujieda K, Tajima T
  • Journal Title: Endocr J 55 Pages: 97-103
  • Peer Reviewed
• [Journal Article] 先天性副腎低形成 (2008)
  • Author(s): 藤枝憲二
  • Journal Title: 日本内科学会誌 97 Pages: 736-742
  • NAID: 10021253855
• [Journal Article] 性分化異常症の管理に関する合意見解、日本小児内分泌学会性分化委員会報告 (2008)
  • Author(s): 緒方勤、堀川玲子、長谷川奉延、位田忍、向井徳男、安達昌功、有坂治、藤枝憲二
  • Journal Title: 日本小児科学会雑誌 112 Pages: 565-578
• [Journal Article] Four Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by DAX-1 gene mutations : mutant DAX-1 failed to repress steroidogenic acute regulatory protein (StAR) and luteinizing hormone betasubunit gene nromoter activity (2008)
  • Author(s): Okuhara K, Abe S, Kondo T, Fujita K, Koda N, Mochizuki H, Fujieda K, Tajima T
  • Journal Title: Endoer J. 55 Pages: 97-103
  • Peer Reviewed
• [Journal Article] 性分化異常症の管理に関する合意見解 (2008)
  • Author(s): 緒方勤、堀川玲子、長谷川奉延、位田忍、向井徳男、安達昌功、有坂治、藤枝憲二
  • Journal Title: 日本小児科学会雑誌 112 Pages: 565-578
  • NAID: 10024132484
  • Peer Reviewed
• [Journal Article] Four Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by DAX-1 gene mutations: mutant DAX-1 failed to repress steroidogenic acute regulatory protein(StAR)and luteinizing hormone beta-subunit gene promoter activi (2008)
  • Author(s): Okuhara K, Abe S, Kondo T, Fujita K, Koda N, Mochizuki H, Fujieda K, Tajima T
  • Journal Title: Endocr J. 55 Pages: 97-103
  • Peer Reviewed
• [Journal Article] Cholesterol sulphate affects production of steroid hormones by reducing steroidogenic acute regulatory protein level in adrenocortical cells (2007)
  • Author(s): Sugawara T, Nomura E, Hoshi N
  • Journal Title: J Endocrinol 195 Pages: 451-458
  • Peer Reviewed
• [Journal Article] DAX-1異常症 (2007)
  • Author(s): 藤枝憲二
  • Journal Title: 最新医学 62 Pages: 1241-1247
  • NAID: 120001814718
• [Journal Article] 性分化異常症の診断と治療-特に先天性副腎過形成症を中心に- (2007)
  • Author(s): 藤枝憲二
  • Journal Title: 日本小児泌尿器科学会雑誌 16 Pages: 125-129
• [Journal Article] Anovel missense mutation(P366T)of the LHX4 gene causes severe combined pituitary hormone deficiency with pituitary hypoplasia, ectopic posterior lobe and a poorly developed sella turcica. (2007)
  • Author(s): Tajima T, Hattori T, Nakajima T, Okuhara K, Tsubaki J, Fujieda K
  • Journal Title: Endocr J. 54 Pages: 637-641
  • Peer Reviewed
• [Journal Article] Cholesterol sulphate affects production of steroid hormones by reducing steroidogenic acute regulatory protein level in adrenocortical cells. (2007)
  • Author(s): Sugawara T, Nomura E, Hoshi N
  • Journal Title: J Endocrinol. 195 Pages: 451-458
  • Peer Reviewed
• [Journal Article] Consensus statement on management of intersex disorders (2006)
  • Author(s): Hughes IA, Houk C, Ahmed SF, Lee PA, LWPES/ESPE Consensus Group (Fujieda K, et al)
  • Journal Title: Arch Dis Child 91 Pages: 554-563
  • Peer Reviewed
• [Journal Article] CREM confers cAMP responsiveness in human steroidogenic acute regulatory protein expression in NCI-H295R cells rather than SF-1/Ad4BP (2006)
  • Author(s): Sugawara T, Sakuragi N, Minakami H
  • Journal Title: J Endocrinol 191 Pages: 339-348
  • Peer Reviewed
• [Journal Article] 先天性副腎過形成症 (2006)
  • Author(s): 藤枝憲二
  • Journal Title: 新領域別症候群シリーズ No.1、内分泌症候群(第2版)、別冊日本臨床 Pages: 673-676
• [Journal Article] リポイド過形成症 (2006)
  • Author(s): 藤枝憲二
  • Journal Title: 新領域別症候群シリーズ No.1、内分泌症候群(第2版)、別冊日本臨床 Pages: 692-695
• [Journal Article] 20, 22デスモラーゼ欠損症 (2006)
  • Author(s): 藤枝憲二
  • Journal Title: 新領域別症候群シリーズ No.1、内分泌症候群(第2版)、別冊日本臨床 Pages: 696-698
• [Journal Article] 副腎性器症候群 (2006)
  • Author(s): 藤枝憲二
  • Journal Title: 新領域別症候群シリーズ No.2、内分泌症候群(第2版)、別冊日本臨床 Pages: 643-646
• [Journal Article] Molecular analysis of the CLONKB gene in Japanese patients with classic Bartter syndrome. (2006)
  • Author(s): Tajima, T, Nawate M, Takahashi Y, Mizoguchi Y, Sugihara S, Yoshimoto M, Murakami M, Adachi M, Tachibana K, Mochizuki H, Fujieda K
  • Journal Title: Endocr J. 53・5 Pages: 647-652
• [Journal Article] Global inequalities in paediatric endocrine practice : statement of minimal acceptable care. Statement from the International Societies for Paediatric Endocrinology. (2006)
  • Author(s): Savage MO, Cassorla FG, Gluckman PD, Gruters-Kieslich A, Raghupathy P, Silink M, Czernichow P, Chiarelli F, Rogol AD, Crock PA, Cowell CT, Fujieda K, Arnhold IJ
  • Journal Title: Horm Res. 65・3 Pages: 111-113
• [Journal Article] Consensus statement on management of intersex disorders. (2006)
  • Author(s): Hughes IA, Houk C, Ahwed SF, Lee PA, LWPES/ESPE Consensus Group (Fujieda K, et al.
  • Journal Title: Arch Dis Child. 91 Pages: 554-563
• [Journal Article] Development of a recombinant yeast assay to detect Ah-receptor ligands. (2006)
  • Author(s): Sugawara T
  • Journal Title: Toxicology Mechanisms and Methods 16・5 Pages: 287-294
• [Journal Article] Both N-terminal and C-terminal regions of steroid sulphatase are important for enzyme activity. (2006)
  • Author(s): Sugawara T, Nomura E, Hoshi N
  • Journal Title: J Endocrinology 188・2 Pages: 365-374
• [Journal Article] CREM confers cAMP responsiveness in human steroidogenic acute regulatory protein expression in NCI-H295R cells rather than SF-1/Ad4BP. (2006)
  • Author(s): Sugawara T, Sakuragi N, Minakami H
  • Journal Title: J Endocrinology 191 Pages: 339-348
• [Journal Article] Molecular basis of adrenal insufficiency (2005)
  • Author(s): Fujieda K, Tajima T
  • Journal Title: Pediatr Res 57
  • Peer Reviewed
• [Journal Article] 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 (2005)
  • Author(s): Franzese A, Brunetti-Pierri N, Spadaro R, Mukai T, Valerio G
  • Journal Title: Am J Med Genet 135A Pages: 72-74
  • Peer Reviewed
• [Journal Article] 先天性副腎皮質ステロイド合成異常症の分子基盤 (2005)
  • Author(s): 藤枝憲二、田島敏広、向井徳男
  • Journal Title: 医学の歩み 213 Pages: 401-407
• [Journal Article] 先天性副腎過形成症 (2005)
  • Author(s): 藤枝憲二、向井徳男
  • Journal Title: 周産期医学 35 Pages: 1245-1248
• [Journal Article] 副腎ステロイド合成酵素異常症の診断基準・病型分類・重症度 (2005)
  • Author(s): 藤枝憲二
  • Journal Title: 内科 95 Pages: 1835-1839
• [Journal Article] Global Inequalities in Paediatric Endocrine Practice : Statement of Minimal Acceptable Care. Statement from the International Societies for Paediatric Endocrinology. (2005)
  • Author(s): Savage MO, Fujieda K, Arnhold IJ, et al.
  • Journal Title: Horm Res 65・3 Pages: 111-113
• [Journal Article] Molecular basis of adrenal insufficiency. (2005)
  • Author(s): Fujieda K, Tajima T
  • Journal Title: Pediatr Res 57
• [Journal Article] Transactivation function of -800 bp evolutionarily sonserved sequence at the SHOX 3' region. Implication for the downstream enhancer. (2005)
  • Author(s): Fukami M, Kato F, Tajima T, Yokoya S, Ogata T
  • Journal Title: Am J Hum Genet 78・1 Pages: 167-170
• [Journal Article] Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome (2004)
  • Author(s): Fluck CE, Tajima T, Pandey AV, Arlt W, Okuhara K, Verge CF, Jabs EW, Mendonca BB, Fujieda K, Miller WL
  • Journal Title: Nat Genet 36 Pages: 228-230
  • Peer Reviewed
• [Journal Article] P450 oxidoreductase deficiency: a new disorder of steroidogenesis affecting all microsomal P450 enzymes (2004)
  • Author(s): Pandey AV, Fluck CE, Huang N, Tajima T, Fujieda K, Miller WL
  • Journal Title: Endocr Res 30 Pages: 881-888
  • Peer Reviewed
• [Journal Article] Role of StAR binding protein in steroidogenic cells (2004)
  • Author(s): Sugawara T
  • Journal Title: Endocr Res 30 Pages: 695-695
  • Peer Reviewed
• [Journal Article] 先天性リポイド過形成症及び先天性副腎低形成症の分子病態 (2004)
  • Author(s): 藤枝憲二、向井徳男
  • Journal Title: ホルモンと臨床 52冬季増刊号 Pages: 120-125
• [Journal Article] SOX9遺伝子に新規変異を同定したcampomelic dysplasiaの1例 (2004)
  • Author(s): 岡本年男、長屋建、竹田津原野、林時仲、向井徳男、藤枝憲二
  • Journal Title: ホルモンと臨床 52増刊 Pages: 140-143
  • NAID: 10014248415
• [Journal Article] 性を決定するメカニズム (2004)
  • Author(s): 藤枝憲二
  • Journal Title: 医学の歩み 208 Pages: 955-961
• [Journal Article] 先天性副腎過形成症 (2004)
  • Author(s): 藤枝憲二、向井徳男
  • Journal Title: 日本臨床 62 Pages: 361-367
• [Journal Article] 先天性副腎過形成症、小児内分泌・代謝疾患の分子基盤 (2004)
  • Author(s): 田島敏広、藤枝憲二
  • Journal Title: 小児科診療 67 Pages: 1617-1622
• [Journal Article] 先天性副腎低形成症、小児内分泌・代謝疾患の分子基盤 (2004)
  • Author(s): 向井徳男、藤枝憲二
  • Journal Title: 小児科診療 67 Pages: 1623-1629
• [Journal Article] 性腺機能低下症、小児内分泌代謝疾患の分子基盤 (2004)
  • Author(s): 藤枝憲二
  • Journal Title: 小児科診療 67 Pages: 1651-1659
• [Journal Article] 先天性副腎過形成症の出生前診断・治療 (2004)
  • Author(s): 藤枝憲二
  • Journal Title: 産婦人科治療 89 Pages: 682-686
• [Journal Article] Mutant P450 Oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. (2004)
  • Author(s): Fluck CE, Tajima T, Pandey AV, Arlt W, Okuhara K, Verge CF, Jabs EW, Mendonca BB, Fujieda K, Miller WL
  • Journal Title: Nature Genetics 36・3 Pages: 228-230
• [Journal Article] P450 oxidoreductase deficiency : a new disorder of steroidogenesis affecting all microsomal P450 enzymes. (2004)
  • Author(s): Pandey AV, Fluck CE, Huang N, Tajima T, Fujieda K, Miller WL
  • Journal Title: Endocrine Research 30・4 Pages: 881-888
• [Journal Article] Role of StAR binding protein in steroidogenic cells. (2004)
  • Author(s): Sugawara T
  • Journal Title: Endocrine Research 30・4 Pages: 695-695
• [Journal Article] Characterization of binding between SF-1 and Sp1: predominant interaction of SF-1 with the N-terminal region of Sp1. (2004)
  • Author(s): Sugawara T, Nomura E, Nakajima A, Sakuragi N
  • Journal Title: Journal of Endocrinological Investigation 27・2 Pages: 133-141
• [Presentation] Congenital lipoid adrenal hyperplasia with bilateral ovarian endometrioma (2008)
  • Author(s): Sugawara T, Kudo M, Fujieda K, Sakuragi N
  • Organizer: 41st Annual Meeting of the Society for the Study of Reproduction
  • Place of Presentation: Kailua-Kona, USA
• [Presentation] Congenital lipoid adrenal hyperplasia with bilateral ovarian endometrioma (2008)
  • Author(s): Sugawara T, Kudo M, Fujieda K, Sakuragi N
  • Organizer: 41st Annual Meeting of the Society for Study of Reproduction
  • Place of Presentation: Kailua-Kona, USA
• [Presentation] NR5A1 遺伝子異常(Ad4/BP)による精巣形成不全の1 例 (2007)
  • Author(s): 田島敏広、石津桂、藤枝憲二
  • Organizer: 第15回日本ステロイドホルモン学会学術集会
  • Place of Presentation: 仙台
  • Year and Date: 2007-11-24
• [Presentation] NR5A1遺伝子異常(Ad4/BP)による精巣形成不全の1例 (2007)
  • Author(s): 田島敏広、石津桂、藤枝憲二
  • Organizer: 第15回日本ステロイドホルモン学会学術集会
  • Place of Presentation: 仙台市
  • Year and Date: 2007-11-24
• [Presentation] 性分化異常症の診断と治療-特に先天性副腎過形成症を中心に- (2007)
  • Author(s): 藤枝憲二
  • Organizer: 第16回日本小児泌尿器科学会総会
  • Place of Presentation: 神戸
  • Year and Date: 2007-07-14
• [Presentation] P450 oxidoreductase(POR)欠損症の遺伝子診断 (2007)
  • Author(s): 田島敏広、藤枝憲二
  • Organizer: 第17回臨床内分泌Update
  • Place of Presentation: 東京
  • Year and Date: 2007-03-10
• [Presentation] Disorders of steroidogenesis, other than 21-hydroxylase (2007)
  • Author(s): Fujieda K
  • Organizer: ENDO 2007 Meet-the-Professor Session
  • Place of Presentation: Toronto, Canada
• [Presentation] Steroidogenic acute regulatory protein-binding protein is associated with apoptosis and controls steroidogenesis (2007)
  • Author(s): Sugawara T, Hoshi N, Fujieda K
  • Organizer: ENDO 2007
  • Place of Presentation: Toronto, Canada
• [Presentation] 副腎疾患のマススクリーニング、今後の展望 (2006)
  • Author(s): 田島敏広
  • Organizer: 第40回日本小児内分泌学会学術集会
  • Place of Presentation: 浜松
  • Year and Date: 2006-09-26
• [Presentation] Congenital adrenal disorders: From newborn screening to molecular mechanism (2006)
  • Author(s): Fujieda K
  • Organizer: LWPES Trans-Pacific Lecture, Pediatric Academic Societies'2006 Annual Meeting
  • Place of Presentation: San Francisco, USA
• [Presentation] Disorders of steroidogenesis, other than 21-hydroxylase (2006)
  • Author(s): Fujieda K
  • Organizer: ENDO 2006 Meet-the-Professor Session
  • Place of Presentation: Boston, USA
• [Presentation] Association of spermatogenesis with Ser164Arg and Arg417Trp polymorphism in the gene of steroidogenic acute regulatory protein-binding protein (2006)
  • Author(s): Sugawara T, Makita Y, Fujieda K
  • Organizer: ENDO 2006
  • Place of Presentation: Boston, USA
• [Presentation] Immunohistochemical study of steroidogenic acute regulatory (StAR) protein in ovarian tumors (2006)
  • Author(s): Sugawara T, Sakuragi N, Hoshi N
  • Organizer: 6th Sapporo International Symposium on Ovarian Function
  • Place of Presentation: Otaru, Japan
• [Presentation] Steroid sulfatase increases steroidogenic acute regulatory protein level and stimulates steroid production (2006)
  • Author(s): Sugawara T
  • Place of Presentation: Athens, Greece
• [Presentation] International newborn screening (NBS) collaborative study on 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH) (2006)
  • Author(s): Fujieda K, Pang S
  • Organizer: Workshop 5, 6th Meeting of the International Society for Neonatal Screening
  • Place of Presentation: Awaji, Japan
• [Presentation] New disease in CAH screening (2006)
  • Author(s): Tajima T, Fujieda K
  • Organizer: Workshop 5, 6th Meeting of the International Society for Neonatal Screening
  • Place of Presentation: Awaji, Japan
• [Presentation] The genetic mutations of adrenal insufficiency (2006)
  • Author(s): Fujieda K, Tajima T, Mukai T
  • Organizer: Symposium IV, Adrenal, 4th Biennial Scientific Meeting Asia Pacific Paediatric Endocrine Society 2006
  • Place of Presentation: Pattaya, Thailand
• [Presentation] 性分化異常症の診断と治療-特に先天性副腎過形成症を中心に (2006)
  • Author(s): 藤枝憲二
  • Organizer: シンポジウム5「小児泌尿器科:半陰陽の診断と治療」、第94回日本泌尿器科学総会
  • Place of Presentation: 福岡
• [Presentation] 先天性副腎疾患Update (2006)
  • Author(s): 藤枝憲二
  • Organizer: 第9回日本内分泌学会学術総会 教育講演
  • Place of Presentation: 神戸
• [Presentation] ヒト副腎・生殖腺の発生分化・機能の異常による性分化異常症 (2005)
  • Author(s): 藤枝憲二
  • Organizer: 第10回日本生殖内分泌学会シンポジウム「性分化異常の基礎と臨床」
  • Place of Presentation: 東京
  • Year and Date: 2005-11-03
• [Presentation] Steroid sulfatase increases steroidogenic acute regulatory protein expression level and stimulates steroid production (2005)
  • Author(s): Sugawara T
  • Organizer: ASBMB 2005
  • Place of Presentation: San Diego, USA
• [Presentation] Cholesterol sulfate inhibits production of steroid hormones by reducing StAR protein level in cells (2005)
  • Author(s): Sugawara T, Sakuragi N, Minakami H
  • Organizer: ENDO 2005
  • Place of Presentation: San Diego, USA
• [Presentation] Transcription factors and adrenal development (2005)
  • Author(s): Fujieda K, Mukai T, Okuhara K, Tajima T
  • Organizer: ESPE/LWPES 7th Joint Meeting
  • Place of Presentation: Lyon, France
• [Presentation] Two novel mutations in SOX9 gene in the patients with campomelic dysplasia (2005)
  • Author(s): Mukai T, Okamoto T, Suzuki S, Matsuo K, Ueda O, Ito Y, Fujieda K
  • Organizer: ESPE/LWPES 7th Joint Meeting
  • Place of Presentation: Lyon, France
• [Presentation] Two Japanese patients caused by P450 oxidoreductase (POR) deficiency (2005)
  • Author(s): Tajima T, Tsubaki J, Okuhara K, Ogawa E, Fujieda K
  • Organizer: ESPE/LWPES 7th Joint Meeting
  • Place of Presentation: Lyon, France
• [Presentation] P450と内分泌疾患-先天性副腎皮質過形成症を中心に (2005)
  • Author(s): 田島敏広、藤枝憲二
  • Organizer: 第15回臨床内分泌代謝Update
  • Place of Presentation: 札幌
• [Presentation] 先天性副腎過形成症の遺伝子診断と出生前診断・治療 (2005)
  • Author(s): 田島敏広、藤枝憲二
  • Organizer: 第108回日本小児科学会総会
  • Place of Presentation: 東京
• [Presentation] シンポジウム「性成熟異常症の最近の進歩」AHC (DAX-1)異常症 (2005)
  • Author(s): 向井徳男、藤枝憲二
  • Organizer: 第78回日本内分泌学会学術総会
  • Place of Presentation: 東京
• [Presentation] アンドロゲン受容体遺伝子に新規部分欠失を同定したアンドロゲン不応症の同胞例 (2005)
  • Author(s): 向井徳男、鈴木滋、松尾公美浩、上田修、安達かおり、藤枝憲二
  • Organizer: 第39回日本小児内分泌学会学術集会
  • Place of Presentation: 東京
• [Presentation] 先天性副腎過形成症-スクリーニング、出生前診断・治療、分子遺伝学 (2004)
  • Author(s): 藤枝憲二
  • Organizer: 日本マススクリーニング学会ランチョンセミナー
  • Place of Presentation: 仙台
  • Year and Date: 2004-10-09
• [Presentation] 副腎不全の分子基盤 (2004)
  • Author(s): 藤枝憲二
  • Organizer: 日本小児内分泌学会ランチョンセミナー
  • Place of Presentation: 神戸
  • Year and Date: 2004-09-23
• [Presentation] Molecular genetics on adrenal insufficiency (2004)
  • Author(s): Fujieda K
  • Organizer: 5th Asia Pacific Regional Meeting of International Society for Neonatal Screening
  • Place of Presentation: Shanghai, China
• [Presentation] SF-1 and CREM support human steroidogenic acute regulatory protein expression in NCI-H295 cells (2004)
  • Author(s): Sugawara T, Noriaki S, Minakami H
  • Organizer: ENDO 2004
  • Place of Presentation: New Orleans, USA
• [Presentation] Role of steroidogenic acute regulatory protein binding protein (SBP) in steroidogenic cells (2004)
  • Author(s): Sugawara T
  • Organizer: Adrenal 2004
  • Place of Presentation: New Orleans, USA
• [Presentation] オーバービュー、先天性副腎皮質ステロイド合成異常症の臨床 (2004)
  • Author(s): 藤枝憲二
  • Organizer: クリニカルアワー、第77回日本内分泌学会学術総会
  • Place of Presentation: 京都
• [Presentation] Microsomal-P450 oxidoreductase遺伝子異常によって発症したCYP21, CYP17複合欠損症 (2004)
  • Author(s): 田島敏広、奥原宏治、椿淳子、藤枝憲二
  • Organizer: 第77回日本内分泌学会学術総会
  • Place of Presentation: 京都
• [Presentation] campomelic dysplasia 3症例におけるSOX9遺伝子の解析 (2004)
  • Author(s): 向井徳男、岡本年男、石井玲、鈴木滋、松尾公美浩、藤根美穂、上田修、伊藤善也、藤枝憲二
  • Organizer: 第38回日本小児内分泌学会
  • Place of Presentation: 神戸
• [Book] 先天性副腎過形成症、小児疾患診療のための病態生理(小児内科 40増刊号) (2008)
  • Author(s): 藤枝憲二
  • Publisher: 東京医学社
• [Book] 内分泌 臨床分野での進歩 性成熟異常症 最近の進歩(Annual Review糖尿病・代謝・内分泌2007) (2007)
  • Author(s): 藤枝憲二
  • Publisher: 金原出版
• [Book] Annual Review糖尿病・代謝・内分泌2007 (2007)
  • Author(s): 藤枝憲二
  • Publisher: 金原出版
• [Book] 先天性副腎過形成症、先端医療シリーズ、34、小児科の新しい流れ(柳澤正義、衛藤義勝、五十嵐隆編集) (2005)
  • Author(s): 藤枝憲二、向井徳男、田島敏広
  • Publisher: 先端医療技術研究所
• [Book] 3β-hydroxysteroid dehydrogenase deficiency. Encyclopedia of Endocrine Disease Vol. 2 (2004)
  • Author(s): Fujieda K, Nakae J, Mukai T
  • Publisher: Academic Press (Martini L eds)
• [Remarks] ホームページ
  • URL: http://www.pediatric-world.com/asahikawa/ge1/kenkyu.html
• [Remarks]
  • URL: http://www.pediatric-world.com/asahikawa/gel/kenkyu.html
• [Remarks]
  • URL: http://www.pediatric-world.com/asahikawa/ge1/kg_2007.html
• [Patent(Industrial Property Rights)] ステロイドスルファターゼ変異体、及び該変異体を用いたステロイドスルファターゼ酵素活性の抑制 (2004)
  • Inventor(s): 菅原照夫
  • Industrial Property Rights Holder: 科学技術振興事業団
  • Industrial Property Number: 2004-097157
  • Filing Date: 2004-03-29
• [Patent(Industrial Property Rights)] アリルハイドロカーボン受容体のリガンド定性法Transformed yeast for detecting and measuring dioxins and methods for detecting, measuring and screening for dioxins employing the same. (2004)
  • Inventor(s): 菅原照夫
  • Industrial Property Rights Holder: 科学技術振興事業団
  • Industrial Property Number: 2004-081843
  • Filing Date: 2004-03-26
• [Patent(Industrial Property Rights)] StAR結合蛋白質(SBP)遺伝子の発現を制御するオリゴヌクレオチド及び方法 (2004)
  • Inventor(s): 菅原照夫
  • Industrial Property Rights Holder: 科学技術振興事業団
  • Filing Date: 2004-03-15