ヒト疾患解析にもとづく性差構築機序の解明

2013 Fiscal Year Annual Research Report

• Project Area: Molecular mechanisms for establishment of sex differences.
• Project/Area Number: 22132004
• Research Institution: Hamamatsu University School of Medicine
• Principal Investigator: 緒方 勤 浜松医科大学, 医学部, 教授 (40169173)
• Co-Investigator(Kenkyū-buntansha): 筒井 和義 早稲田大学, 教育・総合科学学術院, 教授 (20163842) ; 深見 真紀 独立行政法人国立成育医療研究センター, その他部局等, その他 (40265872)
• Project Period (FY): 2010-06-23 – 2015-03-31
• Keywords: 性差構築 / ヒト疾患解析 / 性分化疾患 / MAMLD1 / ゲノム・エピゲノム解析 / 高密度アレイCGH解析 / 次世代シークエンサー解析 / 新規遺伝子

Research Abstract

本年度における主たる成果は以下の通りである。
(1) 新規男児外性器異常発症責任遺伝子BHLHA9の解析：われわれは、裂手裂足症発症遺伝子BHLHA9が、胎児期マウスの外性器においても発現し、これに一致して、尿道下裂・停留精巣患者においてBHLHA9の変異と重複を見出した。これは、性ステロイド非依存性の性差構築機序の解明に大きく寄与する。そして、裂手裂足症27家系において、完全に同一融合点と種々のハプロタイプパターンを伴うBHLHA9を含む約200 kbの重複をみいだし、本邦において複製過程で生じた重複がその後の組み替えによりハプロタイプの多様性を獲得しながら拡散していることを見いだした。また、FGFR1がゴナドトロピン分泌不全と裂手裂足症を生じることを見いだした。
(2) MAMLD1ノックアウトマウス解析：MAMLD1は、2006年にわれわれが同定した性分化疾患（尿道下裂）責任遺伝子である。昨年度、雄ノックアウトマウスが正常表現型であることを見いだしたが、本年度は雌ノックアウトマウスが、胎仔の下のタイプとは無関係に、プロゲステロン産生低下による分娩遅延・停止を生じることを見いだした。この成果は、分娩発症機序の解明に大きく貢献するものである。
(3) SRY陽性45,Xおよび46,XX患者の解析：5例の解析から、Xp;Yp転座が種々の領域で生じるものの、Y短腕逆位がPRKX-PRKYを介する転座発症の基盤となっていること、また、性的表現型の多様性が、複数の成因によるに起因することを見いだした。
(4) 次世代シークエンサーおよび全ゲノムアレイ解析：原発性および続発性性分化疾患患者約200例の解析を終了し、多数の変異ならびにコピー数異常を見いだした。現在、変異の確認と機能解析を進めている。ここではbackdoor pathwayに関与する遺伝子も網羅的に解析している。

Current Status of Research Progress

2: Research has progressed on the whole more than it was originally planned.

Reason

以下の成果が挙げられていることによる。(1) 本新学術領域の最大の目的である性ステロイド非依存性および性ステロイド依存性の性差構築機序に関わる因子を同定した。特に、性ステロイド非依存性性差構築機序の遺伝的因子として、指趾・四肢と外性器の形成に共通するBHLHA9を見いだし、これを含む約200 kbの重複が本邦創始者効果として形成され、伝搬していることを見いだたことは特筆に値する。同様に、性ステロイド依存性の性差構築機序に関わる因子としてbackdoor pathwayというテストステロンを介さずにジヒドロテストステロンを産生する経路がヒトにおいても作動していることを見いだし、これが正常男児の男性化と副腎疾患陽性女児の男性化に関与することをみいだした。(2)次世代シークエンサー解析と全ゲノム高密度アレイCGH解析を約200例の患者データ終了し、多数の変異あるいはコピー数異常とともに、oligogenecityの関与を同定している。これは、本新学術領域発足時に掲げた目標である網羅的遺伝子解析による遺伝的異質性と臨床的多様性の発症機序解明に直結する。(3) ゲノム疾患としての性分化疾患をPOR異常症、アロマターゼ過剰症、SOX9異常症において見出した。(4) 2006年にわれわれが同定した性分化疾患（尿道下裂）責任遺伝子MAMLD1の機能解析を着実に進めている。特に、本年度見いだしたメスノックアウトマウスにおける分娩障害は、世界初のデータである。(5) この他に、インプリンティング疾患であるIMAGe 症候群におけるCDKN1C変異の同定と性分化疾患発症機序の解明、SRY (+) 45,Xあるいは46,XX精巣性性分化疾患発症機序の解明などが進展した。

Strategy for Future Research Activity

性分化疾患のゲノム・エピゲノム解析として、下記を重視して行い、性差構築機序の解明を目指す。(1)新規男児外性器異常発症責任遺伝子BHLHA9の解析：現在までに集積した外性器正常および異常の患者皮膚組織を用いてBHLHA9の発現量を比較すると共に、モルフォリーノを用いたノックダウン実験をメダカで行い、重複と鏡像の表現型を観察する。また、現在共同研究者がBHLHA9 transgenic mouseを作成中であり、これにより、BHLHA9シグナル伝達経路の解明を進める。(2)テストステロンを介さない新規男性ホルモン産生経路Backdoor Pathwayの解析：Backdoor Pathwayに関与する酵素の発現を、マウス胎児精巣、胎児副腎で検討する。また、下記のように、この経路に関与する遺伝子解析を網羅的に実施する。(3)次世代シークエンサーおよび全ゲノムアレイ解析：特にBackdoor Pathwayに関与する遺伝子を現在までに集積した全検体で解析する。また、変異が同定された患者において機能解析を行うとともに、oligogenecityの関与を詳細に検討する。(4)性差構築遺伝子の機能解析：現在までににターゲットエンリッチメント解析で変異が同定された性差構築候補遺伝子の機能を、レポーターアッセイ、培養細胞やメダカを用いたノックダウン実験、蛋白局在解析、免疫沈降、アレイ発現解析で解析する。(5)性分化疾患患者におけるエピゲノム解析：現在までに集積した性分化疾患患者の外性器皮膚組織の繊維芽細胞を用いて、外性器で発現しているSRF\D5A2, ARを主にメチル化解析を行う。(6)MAMLD1ノックアウトマウス解析：雌ノックアウトマウスの卵巣におけるステロイド産生パターンおよびステロイド代謝酵素責任遺伝子の発現量を検討し、プロゲステロン産生低下が生じる機序を解明する。

Research Products

• [Journal Article] Lack of genomic rearrangements involving the aromatase gene CYP19A1 in breast cancer. (2014)
  • Author(s): Fukami M*, Suzuki J, Nakabayashi K, Tsunashima R, Ogata T, Shozu M, Noguchi S
  • Journal Title: Breast Cancer Volume: 21 (3) Pages: 382-385
  • DOI: 10.1007/s12282-013-0471-5
  • Peer Reviewed
• [Journal Article] IMAGe syndrome: clinical and genetic implications based on Iinvestigations in three Japanese patients. (2014)
  • Author(s): Kato F, Hamajima T, Hasegawa T, Amano N, Horikawa R, Nishimura G, Nakashima S, Fuke T, Sano S, Fukami M, Ogata T
  • Journal Title: Clin Endocrinol Volume: 80 (5) Pages: 706-713
  • DOI: 10.1111/cen.12379
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Uniparental disomy of chromosome 8 leading to homozygosity of a CYP11B1 mutation in a patient with congenital adrenal hyperplasia: Implication for a rare etiology of an autosomal recessive disorder. (2014)
  • Author(s): Matsubara K, Kataoka N, Ogita S, Sano S, Ogata T, Fukami M*, Katsumata N
  • Journal Title: Endocr J Volume: 61 (6) Pages: 629-633
  • DOI: org/10.1507/endocrj
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Rationale and study design of the Japan environment and children’s study (JECS) (2014)
  • Author(s): Kawamoto T, Nitta H, Murata K, Toda E, Tsukamoto N, Hasegawa M, Yamagata Z, Kayama F, Kshi R, Ohya Y, Saito H, Sago H, Okuyama M, Ogata T, Yokoya S, Koresawa Y, Shibata Y, Nakayama S, Michikawa T, Takeuchi A, Saitoh H
  • Journal Title: BMC Public Health Volume: 14 Pages: 25
  • DOI: 10.1186/1471-2458-14-25
  • Peer Reviewed / Open Access
• [Journal Article] Mutation Spectrum and Phenotypic Variation in Nine Patients with SOX2 abnormalities. (2014)
  • Author(s): Fukami M*, Suzuki J, Azuma N, Dateki S, Soneda S, Muroya K, Yamamoto Y, Saito R, Sano S, Nagai T, Wada H, Endo A, Urakami T, Ogata T:
  • Journal Title: J Hum Genet Volume: in press Pages: in press
  • Peer Reviewed
• [Journal Article] A missense single-nucleotide polymorphism in the sialic acid acetyl esterase gene is associated with anti-PIT-1 antibody syndrome. (2014)
  • Author(s): Yamamoto M, Iguchi G, Bando H, Fukuoka H, Suda K, Takahashi M, Nishizawa H, Matsumoto R, Tojo K, Mokubo A, Ogata T, Takahashi Y*
  • Journal Title: Endocr J Volume: in press Pages: in press
  • Peer Reviewed
• [Journal Article] TBX1 Mutation Identified by Exome Sequencing in a Japanese Family with 22q11.2 Deletion Syndrome-like Craniofacial Features and Hypocalcemia. (2014)
  • Author(s): Ogata T*, Niihori T, Tanaka N, Kawai M, Nagashima T, Funayama R, Nakayama K, Nakashim S, Kato F, Fukami M, Aoki Y, Matsubara Y
  • Journal Title: PLoS One Volume: 9 Pages: e91598
  • DOI: 10.1371/journal.pone.0091598
  • Peer Reviewed
• [Journal Article] Identification and Functional Characterization of Two Novel NPR2 Mutations in Japanese Patients with Short Stature. (2014)
  • Author(s): Amano N, Mukai T, Ito Y, Narumi S, Tanaka T, Yokoya S, Ogata T, Hasegawa T*
  • Journal Title: J Clin Endocrinol Metab Volume: Epub ahead of print Pages: E713-718
  • DOI: 10.1210/jc.2013-3525
  • Peer Reviewed
• [Journal Article] Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of the human imprintome and suggests a germline methylation independent establishment of imprinting. (2014)
  • Author(s): Court F, Tayama C, Romanelli V, Martin-Trujillo A, Iglesias-Platas I, Okamura K, Sugahara N, Simon C, Moore H, Harness J, Keirstead H, Vicente Sanchez-Mut J, Kaneki E, Lapunzina P, Soejima H, Wake N, Esteller M, Ogata T, Hata K, Nakabayashi K, Monk D*
  • Journal Title: Genome Res Volume: in press Pages: in press
  • DOI: 10.1101/gr.164913.113
  • Peer Reviewed
• [Journal Article] Disorder of sex development in an infant with molecularly confirmed 46,XY, +der(10)t(10;21)(q21.1;q21.3), -21. (2014)
  • Author(s): Yagasaki H*, Nakane T, Saito T, Koizumi K, Kobayashi K, Ogata T
  • Journal Title: Am J Med Genet A Volume: 164 Pages: 841-843
  • DOI: 10.1002/ajmg.a.36354
  • Peer Reviewed
• [Journal Article] Prenatal Genetic testing for a microdeletion at chromosome 14q32.2 imprinted region leading to upd(14)pat-like phenotype. (2014)
  • Author(s): Sasaki A, Sumie M, Eada S, Kosaki R, Kurosawa K, Fukami M, Sago H, Ogata T, Kagami M*
  • Journal Title: Am J Med Genet A Volume: 164A Pages: 264-266
  • DOI: 10.1002/ajmg.a.36185
  • Peer Reviewed
• [Journal Article] A. Caraty, Differential expressions of RFamide-related peptide, a mammalian gonadotropin-inhibitory hormone ortholog, and kisspeptin in the hypothalamus of Abadeh ecotype does during breeding and anestrous seasons (2014)
  • Author(s): M. R. J. Shirazi, M. J. Zamiri, M. S. Salehi, S. Moradi, A. Tamadon, M. R. Namavar, A. Akhlaghi, K. Tsutsui
  • Journal Title: J. Neuroendocrinol Volume: in press Pages: in press
  • DOI: 10.1111/jne12137
  • Peer Reviewed
• [Journal Article] Molecular basis for the activation of gonadotropin-inhibitory hormone gene transcription by corticosterone (2014)
  • Author(s): Y. L. Son, T. Ubuka, M. Narihiro, Y. Fukuda, I. Hasunuma, K. Yamamoto, D. D. Belsham, K. Tsutsui
  • Journal Title: Endocrinology Volume: in press Pages: in press
  • DOI: 10.1210/en20132076
  • Peer Reviewed
• [Journal Article] Hypothalamic inhibition of socio-sexual behaviour by increasing neuroestrogen synthesis (2014)
  • Author(s): T. Ubuka, S. Haraguchi, Y. Tobari, M. Narihiro, K. Ishikawa, T. Hayashi, N. Harada, K. Tsutsui
  • Journal Title: Nat. Commun Volume: 5 Pages: 3061
  • DOI: 10.1038/ncomms4061
  • Peer Reviewed
• [Journal Article] Breakthrough in neuroendocrinology by discovering novel neuropeptides and neurosteroids: 1) Discovery of gonadotropin-inhibitory hormone (GnIH) across vertebrates (2014)
  • Author(s): K. Tsutsui, T. Ubuka, Review
  • Journal Title: Gen. Comp. Endocrinol Volume: in press Pages: in press
  • DOI: 10.1016/j.ygcen.2014.03.006
  • Peer Reviewed
• [Journal Article] Breakthrough in neuroendocrinology by discovering novel neuropeptides and neurosteroids: 2) Discovery of neurosteroids and pineal neurosteroids (2014)
  • Author(s): K. Tsutsui, S. Haraguchi, Review
  • Journal Title: Gen. Comp. Endocrinol Volume: in press Pages: in press
  • DOI: 10.1016/j.ygcen.2014.03.008
  • Peer Reviewed
• [Journal Article] Gonadotropin-inhibitory hormone inhibits aggressive behavior of male quail by increasing neuroestrogen synthesis in the brain beyond its optimum concentration (2014)
  • Author(s): T. Ubuka, K. Tsutsui, Review
  • Journal Title: Gen. Comp. Endocrinol Volume: in press Pages: in press
  • DOI: 10.1016/j.ygcen.2014.03.014
  • Peer Reviewed
• [Journal Article] Biosynthesis and biological action of pineal allopregnanolone. (2014)
  • Author(s): K. Tsutsui, S. Haraguchi, Review
  • Journal Title: Front. Neurosci Volume: 5 Pages: 1-10
  • Peer Reviewed
• [Journal Article] Molecular evolution and function of 26RFa/QRFP and its cognate receptor (2014)
  • Author(s): K. Ukena, T. Osugi, J. Leprince, H. Vaudry, K. Tsutsui, Review
  • Journal Title: J. Mol. Endocrinol Volume: in press Pages: in press
  • DOI: 10.1530/JME-13-0207
  • Peer Reviewed
• [Journal Article] Central and direct regulation of testicular activity by gonadotropin-inhibitory hormone and its receptor (2014)
  • Author(s): T. Ubuka, Y. L. Son, Y. Tobari, M. Narihiro, G. E. Bentley, L. Kriegsfeld, K. Tsutsui, Review
  • Journal Title: Front. Endocrinol. (Lausanne) Volume: 5 Pages: 1-10
  • DOI: 10.3389/fendo.2014.00008
  • Peer Reviewed
• [Journal Article] 化学掲示板‐女性ホルモンの量がオスの攻撃性を調整していた！ (2014)
  • Author(s): 筒井和義 総説
  • Journal Title: （1月18日日本経済新聞掲載）筒井和義教授（早稲田大学教育・総合科学学術院／先端生命医科学センター）に聞く、化学 Volume: 69 Pages: 73
  • Peer Reviewed
• [Journal Article] Backdoor pathway for dihydrotestosterone biosynthesis: implications for normal and abnormal human sex development. (2013)
  • Author(s): Fukami M, Homma K, Hasegawa T, Ogata T*
  • Journal Title: Dev Dyn , Volume: 4 Pages: 320-329
  • DOI: 10.1002/dvdy.23892
  • Peer Reviewed
• [Journal Article] Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions (DMRs) to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations. (2013)
  • Author(s): Maeda T, Higashimoto K, Jozaki K, Yatsuki H, Nakabayashi K, Makita Y, Tonoki H, Okamoto N, Takada F, Ohashi H, Migita M, Kosaki R, Matsubara K, Ogata T, Matsuo M, Hamasaki Y, Ohtsuka Y, Nishioka K, Joh K, Mukai T, Hata K, Soejima H*
  • Journal Title: Genet Med Volume: in press Pages: in press
  • Peer Reviewed
• [Journal Article] De novo frameshift mutation in fibroblast growth factor 8 in a male patient with gonadotropin deficiency (2013)
  • Author(s): Suzuki E, Yatsuga S, Igarashi M, Miyado M, Nakabayashi K, Hayashi K, Hata K, Umezawa A, Yamada G, Ogata T, Fukami M*
  • Journal Title: Horm Res Paediatr , Volume: 81 Pages: 139-144
  • DOI: 10.1159/000355380
  • Peer Reviewed
• [Journal Article] Genomic basis of aromatase excess syndrome: recombination- and replication-mediated rearrangements leading to CYP19A1 overexpression. (2013)
  • Author(s): Fukami M*, Tsuchiya T, Vollbach H, Brown KA, Abe S, Ohtsu S, Wabitsch M, Gurger H, Sompson ER, Emezawa A, Nakabayashi K, Bulun SE, Shozu M, Ogata T
  • Journal Title: J Clin Endocrinol Metab Volume: 98 Pages: E2013-2021
  • DOI: 10.1210/jc.2013-2520
  • Peer Reviewed
• [Journal Article] A novel de novo point mutation of OCT-binding site in the IGF2/H19-imprinting control region in a patient with Beckwith-Wiedemann syndrome. (2013)
  • Author(s): Higashimoto K, Jozaki K, Kosho T, Matsubara K, Sato T, Yamada D, Yatsuki H, Maeda T, Ohtsuka Y, Nishioka K, Joh K, Koseki H, Ogata T, SoejimaH*
  • Journal Title: Clin Genet Volume: in press Pages: in press
  • DOI: 10.1111/cge.12318.2013
  • Peer Reviewed
• [Journal Article] Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestsations of Langer mesomelic dysplasia. (2013)
  • Author(s): Tsuchiya T, Shibata M, Numabe H, Jinnno T, Nakabayashi K, Nishimura G, Nagai T, Ogata T, Fukami M*
  • Journal Title: Am J Med Genet A Volume: in press Pages: in press
  • DOI: 10.1002/ajmg.a.36284.
  • Peer Reviewed
• [Journal Article] Critical role of Yp inversion in PRKX/PRKY-mediated Xp;Yp translocation in a patient with 45,X testicular disorder of sex development. (2013)
  • Author(s): Nakashima S, Watanabe Y, Okada J, Ono H, Nagata E, Fukami M, Ogata T*
  • Journal Title: Endocr J Volume: 60 Pages: 1329-1334
  • Peer Reviewed
• [Journal Article] Aromatase excess syndrome in a family with upstream deletion of CYP19A1 (2013)
  • Author(s): Shihara D, Miyado M, Nakabayashi K, Shozu M, Nagasaki K, Ogata T, Fukami M*
  • Journal Title: Clin Endocrinol, Volume: Epub ahead of print Pages: 印刷中
  • DOI: 10.1111/cen.12329
  • Peer Reviewed
• [Journal Article] Long term follow up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation. (2013)
  • Author(s): Nagasaki K*, Asami T, Sato H, Ogawa Y, Kikuchi T, Saitoh A, Ogata T, Fukami M
  • Journal Title: Am J Med Genet A, Volume: 164 Pages: 731-735
  • DOI: 10.1002/ajmg.a.36314
  • Peer Reviewed
• [Journal Article] Identification of AP2S1 Mutation and Effects of Low Calcium Formula in an Infant with Hypercalcemia and Hypercalciuria. (2013)
  • Author(s): Fujisawa Y*, Yamaguchi R, Satake E, Ohtaka K, Nakanishi T, Ozono K, Ogata T
  • Journal Title: J Clin Endocrinol Metab Volume: 98 Pages: E2022-2027
  • DOI: 10.1210/jc.2013-2571
  • Peer Reviewed
• [Journal Article] The lipid fraction of human milk initiates adipocyte differentiation in 3T3-L1 cells. (2013)
  • Author(s): Fujisawa Y*, Yamaguchi R, Nagata E, Satake E, Sano S, Matsushita R, Kitsuta K, Nakashima S, Nakanishi T, Nakagawa Y, Ogata T
  • Journal Title: Early Hum Dev Volume: Epub ahead of print Pages: 印刷中
  • DOI: 10.1016/j.earlhumdev.2013.05.002. Epub 2013 Jun 10.
  • Peer Reviewed
• [Journal Article] A 68-year-old phenotypically male patient with 21-hydroxylase deficiency and concomitant adrenocortical neoplasm producing testosterone and cortisol. (2013)
  • Author(s): Hayashi M*, Kataoka Y, Sugimura Y, Kato F, Fukami M, Ogata T, Homma K, Hasegawa T, Oiso Y, Sasano H, Tanaka H
  • Journal Title: Tohoku J Exp Med Volume: 231 Pages: 75-84
  • Peer Reviewed
• [Journal Article] Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development. (2013)
  • Author(s): Igarashi M, Dung VC, Suzuki E, Ida S, Nakacho M, Nakabayashi K, Mizuno K, Hayashi Y, Kohri K, Kojima Y, Ogata T, Fukami M*
  • Journal Title: PLoS One Volume: 8 Pages: e68194
  • DOI: 10.1371/journal.pone
  • Peer Reviewed
• [Journal Article] Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. (2013)
  • Author(s): Aoki Y*, Niihori T, Banjo T, Okamoto N, Mizuno S, Kurosawa K, Ogata T, Takada F, Yano M, Ando T, Hoshika T, Barnett C, Ohashi H, Kawame H, Hasegawa T, Okutani T, Nagashima T, Hasegawa S, Funayama R, Nagashima T, Nakayama K, Inoue S, Watanabe Y, Ogura T, Matsubara Y
  • Journal Title: Am J Hum Genet Volume: 93 Pages: 173-180
  • DOI: 10.1016/j.ajhg
  • Peer Reviewed
• [Journal Article] Glucose-6-phosphate dehydrogenase deficiency and adrenal hemorrhage in a Filipino neonate with hyperbilirubinemia. (2013)
  • Author(s): Ohishi A*, Ueno D, Ogata T
  • Journal Title: AJP Rep Volume: 3 Pages: 5-8
  • DOI: 10.1055/s-0032-1329125
  • Peer Reviewed
• [Journal Article] MLL2 and KDM6A mutations in patients with Kabuki syndrome. (2013)
  • Author(s): Miyake N*, Koshimizu E, Okamoto N, Mizuno S, Ogata T,at all
  • Journal Title: Am J Med Genet A Volume: 161 Pages: 2234-2243
  • DOI: 10.1002/ajmg.a.36072
  • Peer Reviewed
• [Journal Article] Human glutathione S-transferase A (GSTA) family genes are regulated by steroidogenic factor 1 (SF-1) and are involved in steroidogenesis. (2013)
  • Author(s): Matsumura T, Imamichi Y, Mizutani T, Ju Y, Yazawa T, Kawabe S, Kanno M, Ayabe T, Katsumata N, Fukami M, Inatani M, Akagi Y, Umezawa A, Ogata T, Miyamoto K
  • Journal Title: FASEB J Volume: 27 Pages: 3198-3208
  • DOI: 10.1096/fj.12-222745
  • Peer Reviewed
• [Journal Article] Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency. (2013)
  • Author(s): Fukami M*, Iso M, Sato N, Igarashi M, Seo M, Kazukawa I, Kinoshita E, Dateki S, Ogata T
  • Journal Title: Endocr J Volume: 60 Pages: 1013-1020
  • Peer Reviewed
• [Journal Article] A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency. (2013)
  • Author(s): Yamaguchi R, Kato F, Hasegawa T, Katsumata N, Fukami M, Matsui T, Nagasaki K, Ogata T
  • Journal Title: Endocr J Volume: 60 Pages: 855-859
  • Peer Reviewed
• [Journal Article] Birth seasonality in Prader-Willi syndrome resulting from chromosome 15 microdeletion. (2013)
  • Author(s): Ayabe T, Matsubara K, Ogata T, Ayabe A, Murakami N, Nagai T, Fukami M*
  • Journal Title: Am J Med Genet A Volume: 161 Pages: 1495-1497
  • DOI: 10.1002/ajmg.a.35893
  • Peer Reviewed
• [Journal Article] Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome. (2013)
  • Author(s): Fuke T, Mizuno S, Nagai T, Hasegawa T, Horikawa R, Miyoshi Y, Muroya K, Kondoh T, Numakura C, Sato S, Nakabayashi K, Tayama C, Hata K, Sano S, Matsubara K, Kagami M, Yamazawa K, Ogata T*
  • Journal Title: PLoS One Volume: 8 Pages: e60405
  • DOI: 10.1371/journal.pone
  • Peer Reviewed
• [Journal Article] Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type Ib diagnosed by methylation-specific multiplex ligation-dependent probe amplification. (2013)
  • Author(s): Nagasaki K*, Tsuchuya S, Saitoh A, Ogata T, Fukami M
  • Journal Title: Endocr J Volume: 60 Pages: 231-236
  • Peer Reviewed
• [Journal Article] A report of two novel NR5A1 mutation families: possible clinical phenotype of psychiatric symptoms of anxiety and/or depression. (2013)
  • Author(s): Suzuki-Suwanai A, Ishii T, Haruna H, Yamataka A, Narumi S, Fukuzawa R, Ogata T, Hasegawa T*
  • Journal Title: Clin Endocrinol Volume: 78 Pages: 957-965
  • DOI: 10.1111/cen.12054
  • Peer Reviewed
• [Journal Article] 性分化疾患の性自認に関する調査研究 (2013)
  • Author(s): 大山建司，深見真紀，緒方勤
  • Journal Title: 日小児会誌 Volume: 117 Pages: 1403-1409
  • Peer Reviewed
• [Journal Article] 新規男性ホルモン産生経路：正常性分化および性分化疾患発症における役割 (2013)
  • Author(s): 深見真紀，緒方勤
  • Journal Title: 細胞工学（特集：性決定分化の制御システム） Volume: 32 Pages: 193-198
  • Peer Reviewed
• [Journal Article] 性分化疾患の検査の進め方 (2013)
  • Author(s): 緒方勤
  • Journal Title: 小児内科（特集：負荷試験の実際） Volume: 45 Pages: 815-820
  • Peer Reviewed
• [Journal Article] Aromatase excess syndrome: a rare autosomal dominant disorder leading to pre- or peri-pubertal onset gynecomastia. (2013)
  • Author(s): Fukami M*, Miyado M, Nagasaki K, Shozu M, Ogata T
  • Journal Title: Pediatr Endocr Rev Volume: 11 Pages: 298-305
  • Peer Reviewed
• [Journal Article] Advanced maternal age at childbirth and the development of uniparental disomy. A commentary on the proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea. (2013)
  • Author(s): Matsubara K, Ogata T*
  • Journal Title: J Hum Genet Volume: 58 Pages: 118-119
  • DOI: 10.1038/jhg.2013.4.
  • Peer Reviewed
• [Journal Article] Contribution of de novo synthesis of Gs-proteins to 1-methyladenine production in starfish ovarian follicle cells stimulated by relaxin-like gonad-stimulating substance (2013)
  • Author(s): M. Mita, S. Haraguchi, H. Uzawa, K. Tsutsui
  • Journal Title: Biochem. Biophys. Res. Commun Volume: 440 Pages: 798-801
  • DOI: 10.1016/j.bbrc.2013.10.038
  • Peer Reviewed
• [Journal Article] Molecular evolution of Kiss2 genes and peptides in vertebrates (2013)
  • Author(s): T. Osugi, N. Ohtaki, Y. Sunakawa, Y. L. Son, M. Ohkubo, M. Iigo, M. Amano, K. Tsutsui
  • Journal Title: Endocrinology Volume: 154 Pages: 4270-4280
  • DOI: 10.1210/en.2012-2267
  • Peer Reviewed
• [Journal Article] Gonadotropin-inhibitory hormone reduces sexual motivation but not lordosis behavior in female Syrian hamsters (Mesocricetus auratus) (2013)
  • Author(s): D. J. Piekarski, S. Zhao, K. J. Jennings, T. Iwasa, S. J. Legan, J. D. Mikkelsen, K. Tsutsui, L. J. Kriegsfeld
  • Journal Title: Horm. Behav Volume: 64 Pages: 501-510
  • DOI: 10.1016/j.yhbeh.2013.06.006
  • Peer Reviewed
• [Journal Article] A genetically female brain is required for a regular reproductive cycle in chicken brain chimeras (2013)
  • Author(s): F. Maekawa, M. Sakurai, Y. Yamashita, K. Tanaka, S. Haraguchi, K. Yamamoto, K. Tsutsui, H. Yoshioka, S. Murakami, R. Tadano, T. Goto, J. Shiraishi, K. Tomonari, T. Oka, K. Ohara, T. Maeda, T. Bungo, M. Tsudzuki, H. Ohki-Hamazaki
  • Journal Title: Nat. Commun Volume: 4 Pages: 1372
  • DOI: 10.1038/ncomms2372
  • Peer Reviewed
• [Journal Article] Contribution of Leydig and Sertoli cells to testosterone production in mouse fetal testes (2013)
  • Author(s): Y. Shima, K. Miyabayashi, S. Haraguchi, T. Arakawa, H, Otake, T. Baba, S. Matsuzaki, Y. Shishido, H. Akiyama, T. Tachibana, K. Tsutsui, K. Morohashi
  • Journal Title: Mol. Endocrinol Volume: 27 Pages: 63-67
  • DOI: 10.1210/me.2012-125
  • Peer Reviewed
• [Journal Article] Biosynthesis and biological actions of pineal neurosteroids in domestic birds, [Selected for Issue Cover] (2013)
  • Author(s): K. Tsutsui, S. Haraguchi, M. Hatori, T. Hirota, Y. Fukada, Review
  • Journal Title: Neuroendocrinology Volume: 98 Pages: 97-105
  • DOI: 10.1159/000353782
  • Peer Reviewed
• [Journal Article] New biosynthesis and biological actions of avian neurosteroids (2013)
  • Author(s): K. Tsutsui, S. Haraguchi, K. Inoue, H. Miyabara, T. Ubuka, M. Hatori, T. Hirota, Y. Fukada, Review
  • Journal Title: J. Exp. Neurosci Volume: 7 Pages: 15-29
  • DOI: 10.4137/JEN.S11148
• [Journal Article] 10th International Symposium on Avian Endocrinology (2013)
  • Author(s): K. Tsutsui, P. J. Sharp, R. M. Dores, Review
  • Journal Title: Gen. Comp. Endocrinol Volume: 190 Pages: 1-2
  • DOI: 0.1016/j.ygcen.2013.03.011
  • Peer Reviewed
• [Journal Article] Regulatory mechanisms of gonadotropin-inhibitory hormone (GnIH) synthesis and release in photoperiodic animals (2013)
  • Author(s): K. Tsutsui, T. Ubuka, G. E. Bentley, L. Kriegsfeld, Review
  • Journal Title: Front. Neurosci Volume: 7 Pages: 1-11
  • DOI: 10.3389/fnins.2013.00060
  • Peer Reviewed
• [Journal Article] Neuroendocrine regulation of gonadotropin secretion in seasonally breeding birds (2013)
  • Author(s): T. Ubuka, G. E. Bentley, K. Tsutsui, Review
  • Journal Title: Front. Neurosci Volume: 7 Pages: 1-17
  • DOI: 10.3389/fnins.2013.00038
  • Peer Reviewed
• [Journal Article] Brain and pineal 7α-hydroxypregnenolone stimulating locomotor activity: identification, mode of action and regulation of biosynthesis (2013)
  • Author(s): K. Tsutsui, S. Haraguchi, Y. Fukada, H. Vaudry, Review
  • Journal Title: Front. Neuroendocrinol Volume: 34 Pages: 179-189
  • DOI: 10.1016/j.yfrne.2013.05.002
  • Peer Reviewed
• [Journal Article] dentification, localization and function of a novel neuropeptide, 26RFa, and its cognate receptor, GPR103 in the avian hypothalamus (2013)
  • Author(s): K. Ukena, T. Tachibana, Y. Tobari, J. Leprince, H. Vaudry, K. Tsutsui, Review
  • Journal Title: Gen. Comp. Endocrinol Volume: 190 Pages: 42-46
  • DOI: 10.1016/j.ygcen.2013.03.01
  • Peer Reviewed
• [Journal Article] Gonadotropin-inhibitory hormone (GnIH), GnIH receptor and cell signaling (2013)
  • Author(s): T. Ubuka, Y. L. Son, G. E. Bentley, R. P. Millar, K. Tsutsui, Review
  • Journal Title: Gen. Comp. Endocrinol Volume: 190 Pages: 10-17
  • DOI: 10.1016/j.ygcen.2013.02.030
  • Peer Reviewed
• [Journal Article] RNA interference of gonadotropin-inhibitory hormone gene induces aggressive and sexual behaviors in birds (2013)
  • Author(s): T. Ubuka, T. Mizuno, Y. Fukuda, G. E. Bentley, J. C. Wingfield, K. Tsutsui, Review
  • Journal Title: Gen. Comp. Endocrinol Volume: 181 Pages: 179-186
  • DOI: 10.1016/j.ygcen.2012.09.010
  • Peer Reviewed
• [Journal Article] Melatonin stimulates the synthesis and release of gonadotropin-inhibitory hormone in birds (2013)
  • Author(s): V. S. Chowdhury, T. Ubuka, K. Tsutsui, Review
  • Journal Title: Gen. Comp. Endocrinol Volume: 181 Pages: 175-178
  • DOI: 10.1016/j.ygcen.2012.08.005
  • Peer Reviewed
• [Journal Article] Create new research directions in comparative endocrinology from Asia and Oceania (2013)
  • Author(s): K. Tsutsui, Review
  • Journal Title: Gen. Comp. Endocrinol Volume: 181 Pages: 192-196
  • DOI: 10.1016/j.ygcen.2012.04.015
  • Peer Reviewed
• [Journal Article] ハムスターのGnIHの同定及び発現制御と生理機能の解析 (2013)
  • Author(s): 産賀崇由、井上和彦、筒井和義、総説
  • Journal Title: 生殖内分泌学会雑誌 Volume: 18 Pages: 27-33
  • Peer Reviewed
• [Journal Article] ：松果体で合成・放出されたアロプレグナノロンは発達期の小脳プルキンエ細胞の生存に不可欠である (2013)
  • Author(s): 原口省吾、原桜子、産賀崇由、三田雅敏、筒井和義、総説
  • Journal Title: 比較内分泌学 Volume: 39 Pages: 44-48
  • Peer Reviewed
• [Presentation] Progress in comparative endocrinology by discovering novel neuropeptides and neurosteroids (2014)
  • Author(s): K. Tsutsui
  • Organizer: The 7th Intercongress symposium of the Asia and Oceania Society for the Comparative Endocrinology (AOSCE)
  • Place of Presentation: National Taiwan Ocean University, Keelung, Taiwan
  • Year and Date: 20140318-20140324
  • Invited
• [Presentation] ineal allopregnanolone saves purkinje cells from apoptosis in the cerebellum. (2014)
  • Author(s): S. Haraguchi, S. Hara, T. Ubuka, K. Tsutsui
  • Organizer: The 7th Intercongress symposium of the AOSCE
  • Place of Presentation: National Taiwan Ocean University, Keelung, Taiwan
  • Year and Date: 20140318-20140324
  • Invited
• [Presentation] Transcriptional activation of gonadotropin-inhibitory hormone by corticosterone (2014)
  • Author(s): Y. L. Son, T. Ubuka, M. Narihiro, Y. Fukuda, I. Hasunuma, K. Yamamoto, D. D. Belsham, K. Tsutsui
  • Organizer: The 7th Intercongress symposium of the AOSCE
  • Place of Presentation: National Taiwan Ocean University, Keelung, Taiwan
  • Year and Date: 20140318-20140324
  • Invited
• [Presentation] 生殖を抑制する新規脳ホルモンの発見と研究進展：鳥類から哺乳類への展開 (2013)
  • Author(s): 筒井和義
  • Organizer: 第2回実験動物科学シンポジウム－新たなライフサイエンス研究の展開－鳥類リソースの整備と活用に向けて
  • Place of Presentation: 名古屋大学野依記念学術交流館（名古屋市千種区）
  • Year and Date: 20131209-20131209
  • Invited
• [Presentation] The signaling pathway mediating the inhibitory effect of gonadotropin-inhibitory hormone (GnIH) in gonadotropes and GnRH neurons (2013)
  • Author(s): Y. L. Son, T. Ubuka, K. Tsutsui
  • Organizer: 第18回日本生殖内分泌学会学術集会
  • Place of Presentation: シェーンバッハ・サボー（東京都千代田区）
  • Year and Date: 20131207-20131207
• [Presentation] Biosynthesis and biological action of pineal neurosteroids in birds (2013)
  • Author(s): K. Tsutsui, S. Haraguch
  • Organizer: 第37回鳥類内分泌研究会
  • Place of Presentation: アソシエート（熊本県阿蘇郡）
  • Year and Date: 20131121-20131122
• [Presentation] Neuroendocrine mechanisms translating social stimuli into reproductive physiology and behavior (2013)
  • Author(s): Y. Tobari, Y. L. Son, T. Ubuka, Y. Hasegawa, K. Tsutsui
  • Organizer: 第37回鳥類内分泌研究会
  • Place of Presentation: アソシエート（熊本県阿蘇郡）
  • Year and Date: 20131121-20131122
• [Presentation] 視床下部ホルモンの比較内分泌学 (2013)
  • Author(s): 筒井和義
  • Organizer: 第38回日本比較内分泌学会大会・小林英司先生記念シンポジウム
  • Place of Presentation: 宮崎市民プラザ（宮崎県宮崎市）
  • Year and Date: 20131024-20131026
  • Invited
• [Presentation] サケの遡上行動を促進する7alpha-ヒドロキシプレグネノロンの作用機構 (2013)
  • Author(s): 鈴木悠子、原口省吾、山本雄三、張雋螢、小山鉄平、三田雅敏、上田宏、筒井和義
  • Organizer: 第38回日本比較内分泌学会大会・小林英司先生記念シンポジウム
  • Place of Presentation: 宮崎市民プラザ（宮崎県宮崎市）
  • Year and Date: 20131024-20131026
• [Presentation] 精巣由来アンドロゲンによる脳内7alpha-ヒドロキシプレグネノロン合成制御 (2013)
  • Author(s): 原口省吾、鈴木悠子、田代渓一郎、三田雅敏、筒井和義
  • Organizer: 第38回日本比較内分泌学会大会・小林英司先生記念シンポジウム
  • Place of Presentation: 宮崎市民プラザ（宮崎県宮崎市）
  • Year and Date: 20131024-20131026
• [Presentation] Gonadotropin-inhibitory hormone (GnIH), a new key neurohormone regulating reproduction: Discovery, progress and perspective (2013)
  • Author(s): K. Tsutsui
  • Organizer: The International Conference on Comparative Endocrinology and Physiology (ICCEP-2013)
  • Place of Presentation: RTM Nagpur University, Nagpur, India
  • Year and Date: 20131021-20131023
  • Invited
• [Presentation] サケの遡上行動を促進する7alpha-ヒドロキシプレグネノロンの作用機構 (2013)
  • Author(s): 鈴木悠子、原口省吾、山本雄三、張雋螢、小山鉄平、三田雅敏、上田宏、筒井和義
  • Organizer: 第84回日本動物学会大会
  • Place of Presentation: 岡山大学津島キャンパス（岡山県岡山市）
  • Year and Date: 20130926-20130928
• [Presentation] 松果体で合成されたアロプレグナノロンは小脳プルキンエ細胞の細胞死を防ぐ (2013)
  • Author(s): 原口省吾、原桜子、産賀崇由、三田雅敏、筒井和義
  • Organizer: 第84回日本動物学会大会
  • Place of Presentation: 岡山大学津島キャンパス（岡山県岡山市）
  • Year and Date: 20130926-20130928
• [Presentation] GnIHによるGnRHニューロン内シグナリング抑制機構 (2013)
  • Author(s): 孫ユリ、産賀崇由、筒井和義
  • Organizer: 第84回日本動物学会大会
  • Place of Presentation: 岡山大学津島キャンパス（岡山県岡山市）
  • Year and Date: 20130926-20130928
• [Presentation] GnIH はニューロエストロゲン合成を促進して攻撃行動を抑制する (2013)
  • Author(s): 産賀崇由、原口省吾、原田信弘、筒井和義
  • Organizer: 第84回日本動物学会大会
  • Place of Presentation: 岡山大学津島キャンパス（岡山県岡山市）
  • Year and Date: 20130926-20130928
• [Presentation] 生殖生理と生殖行動を変化させる社会的刺激の脳内機構 (2013)
  • Author(s): 戸張靖子、孫ユリ、産賀崇由、長谷川喜久、筒井和義
  • Organizer: 第84回日本動物学会大会
  • Place of Presentation: 岡山大学津島キャンパス（岡山県岡山市）
  • Year and Date: 20130926-20130928
• [Presentation] Kiss2の分子進化に関する研究 (2013)
  • Author(s): 大杉知裕、大滝直仁、砂川裕哉、孫ユリ、大久保誠、飯郷雅之、天野勝文、筒井和義
  • Organizer: 第84回日本動物学会大会
  • Place of Presentation: 岡山大学津島キャンパス（岡山県岡山市）
  • Year and Date: 20130926-20130928
• [Presentation] Genetic advances in DSD (2013)
  • Author(s): Ogata T
  • Organizer: The Joint Summer School for Pediatric Endocrinology.
  • Place of Presentation: Lake Maggiore, Italy
  • Year and Date: 20130922-20130925
  • Invited
• [Presentation] GnIHによる視床下部P450arom活性の制御と性差 (2013)
  • Author(s): 産賀崇由、筒井和義
  • Organizer: 新学術領域研究「性差構築の分子基盤」第5回領域会議
  • Place of Presentation: 国民宿舎虹の松原ホテル（佐賀県唐津市）
  • Year and Date: 20130905-20130907
• [Presentation] 生殖補助医療とインプリンティング疾患発症 (2013)
  • Author(s): 緒方勤
  • Organizer: シンポジウム：疾患から見たARTとエピゲノム．第31回日本受精着床学会学術集会
  • Place of Presentation: 別府
  • Year and Date: 20130808-20130809
  • Invited
• [Presentation] 性分化疾患の発症機序：最新の知見 (2013)
  • Author(s): 緒方勤
  • Organizer: 日本アンドロロジー学会第32回学術大会・第19回精子形成・精巣毒性研究会共同開催学会特別講演
  • Place of Presentation: グランキューブ大阪（大阪府大阪市）
  • Year and Date: 20130726-20130727
  • Invited
• [Presentation] インプリンティング疾患の遺伝子診断 (2013)
  • Author(s): 緒方勤
  • Organizer: 第14染色体父性ダイソミー表現型をモデルとして．シンポジウム：単因子疾患の遺伝子診療．第20回日本遺伝子診療学会
  • Place of Presentation: 浜松
  • Year and Date: 20130718-20130720
  • Invited
• [Presentation] Gonadotropin-inhibitory hormone inhibits aggressive behavior by increasing estrogen synthesis in the brain beyond its optimum concentration (2013)
  • Author(s): T. Ubuka, S. Haraguchi, N. Harada, K. Tsutsui
  • Organizer: The 17th ICCE
  • Place of Presentation: University of Barcelona, Barcelona, Spain
  • Year and Date: 20130718-20130719
• [Presentation] Breakthrough in neuroendocrinology by discovering novel neuropeptides and neurosteroids (特別講演: Bargmann-Scharrer Lecture) (2013)
  • Author(s): K. Tsutsui
  • Organizer: The 17th International Congress of Comparative Endocrinology (ICCE),
  • Place of Presentation: University of Barcelona, Barcelona, Spain
  • Year and Date: 20130715-20130719
  • Invited
• [Presentation] Pineal allopregnanolone saves cerebellar Purkinje cells from apoptosis (2013)
  • Author(s): S. Haraguchi, S. Hara, T. Ubuka, M. Mita, K. Tsutsui
  • Organizer: The 17th ICCE
  • Place of Presentation: University of Barcelona, Barcelona, Spain
  • Year and Date: 20130715-20130719
• [Presentation] Female presence increases gonadotropin-inhibitory hormone gene expression by decreasing norepinephrine in the male quail brain (招待講演) (2013)
  • Author(s): Y. Tobari, Y. L. Son, Y. Hasegawa, K. Tsutsui
  • Organizer: The 17th ICCE
  • Place of Presentation: University of Barcelona, Barcelona, Spain
  • Year and Date: 20130715-20130719
  • Invited
• [Presentation] Gonadotropin-inhibitory hormone inhibits AC/cAMP/PKA-mediated signaling pathway in gonadotropes and GnRH neurons (2013)
  • Author(s): Y. L. Son, T. Ubuka, R. P. Millar, K. Tsutsui
  • Organizer: The 17th ICCE
  • Place of Presentation: University of Barcelona, Barcelona, Spain
  • Year and Date: 20130715-20130719
• [Presentation] 脳の性分化に関する最近の知見 (2013)
  • Author(s): 緒方勤
  • Organizer: 第22回日本小児泌尿器科学会教育講演
  • Place of Presentation: 東京ビックサイトTFTホール（東京都江東区）
  • Year and Date: 20130710-20130712
  • Invited
• [Presentation] 視床下部ホルモンの発見と比較内分泌学の進展 (2013)
  • Author(s): 筒井和義
  • Organizer: 東京大学大気海洋研究所共同利用研究集会－海洋生物のさまざまな適応戦略
  • Place of Presentation: 東京大学大気海洋研究所（千葉県柏市）
  • Year and Date: 20130622-20130622
  • Invited
• [Presentation] 脳におけるprogesteroneとallopregnanoloneの生合成と生理作用 (2013)
  • Author(s): 筒井和義
  • Organizer: 第2回プロゲストーゲン研究会
  • Place of Presentation: 第一ホテル東京（東京都港区）
  • Year and Date: 20130518-20130518
  • Invited
• [Presentation] Genetics of Combined Pituitary Hormone Deficiency. In: Symposium, Neuroendocrinology, Novel Players in Pituitary Disorders. 2013 Seoul International Congress of Endocrinology and Metabolism; (2013)
  • Author(s): Ogata T
  • Organizer: In conjunction with the 32nd Annual Meeting of the Korean Endocrine Society
  • Place of Presentation: Seoul, South Korea
  • Year and Date: 20130502-20130505
  • Invited
• [Presentation] 先天性副腎ステロイド合成異常症 (2013)
  • Author(s): 緒方勤
  • Organizer: シンポジウム：ステロイドホルモン研究Update．第86回日本内分泌学会学術集会．
  • Place of Presentation: 仙台
  • Year and Date: 20130425-20130427
  • Invited
• [Presentation] 生殖補助医療と小児医療の接点 (2013)
  • Author(s): 緒方勤
  • Organizer: オーバービュー．第116回日本小児科学会学術集会：生殖補助医療と小児医療の接点
  • Place of Presentation: 広島
  • Year and Date: 20130419-20130421
  • Invited
• [Book] 外性器と脳の性分化のメカニズム．有阪治（編）ビギナーのための小児内分泌診療ガイド (2014)
  • Author(s): 緒方勤
  • Total Pages: 10
  • Publisher: 中山書店
• [Book] スクエア 最新図説生物（二訂版）高等学校 (2014)
  • Author(s): 筒井和義
  • Total Pages: 344
  • Publisher: 第一学習社
• [Book] Turner症候群．吉川史隆，倉智博久，平松祐司（編）産婦人科疾患最新の治療 (2013)
  • Author(s): 緒方勤
  • Total Pages: 2
  • Publisher: 南江堂
• [Book] 性分化の分子生物学．吉田修（監），小川修、岡田裕作、荒井陽一、寺地敏郎、松田公志、筧義行、羽渕友則（編）ベッドサイド泌尿器科学 改定第4版 (2013)
  • Author(s): 緒方勤
  • Total Pages: 6
  • Publisher: 南江堂
• [Book] ヌーナン症候群．横谷進（編）成長障害のマネジメント 改定第3版 (2013)
  • Author(s): 緒方勤
  • Total Pages: 8
  • Publisher: 医薬ジャーナル社
• [Book] Gen. Comp. Endocrinol (2013)
  • Author(s): K. Tsutsui, P. J. Sharp, R. M. Dores
  • Total Pages: 235
  • Publisher: Gen. Comp. Endocrinol
• [Book] The E-Book of Neurosteroids: Frontiers Research Topic (2013)
  • Author(s): H. Vaudry, K. Tsutsui
  • Total Pages: 476
  • Publisher: Frontiers in Endocrinology (http://flashbook.frontiersin.org//clients/Frontiers/Neurosteroids/EBook.html)
• [Book] Neurosteroids and synaptic formation in the cerebellum. In: Handbook of Cerebellum and Cerebellar Disorders (2013)
  • Author(s): K. Tsutsui
  • Total Pages: 2397
  • Publisher: Springer
• [Book] Gonadotropin-inhibitory hormone (GnIH). In: The Handbook of Biologically Active Peptides (2nd edition) (2013)
  • Author(s): K. Tsutsui, T. Ubuka
  • Total Pages: 1943
  • Publisher: Elsevier publisher
• [Book] 26RFa. In: The Handbook of Biologically Active Peptides (2nd edition) (2013)
  • Author(s): J. Leprince, C. Neveu, B. Lefrance, L. Guilhaudis, I. Segalas-Milazzo, J.-C. Do Rego, M. Tena-Sempere, K. Tsutsui, H. Vaudry
  • Total Pages: 1943
  • Publisher: Elsevier publisher
• [Remarks] 浜松医大小児科
  • URL: http://www2.hama-med.ac.jp/w1b/pediatr/patient/index.html
• [Remarks] 国立成育医療研究センター分子内分泌研究部
  • URL: http://www.nch.go.jp/endocrinology/index.htm
• [Remarks] 早稲田大学
  • URL: http://www.f.waseda.jp/k-tsutsui/