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2011 Fiscal Year Annual Research Report

ヒト疾患解析にもとづく性差構築機序の解明

Planned Research

Project AreaMolecular mechanisms for establishment of sex differences.
Project/Area Number 22132004
Research InstitutionHamamatsu 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) 深見 真紀  (独)国立成育医療研究センター, 研究所・分子内分泌研究部, 室長 (40265872)
筒井 和義  早稲田大学, 教育・総合科学学術院, 教授 (20163842)
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。
● MAMLD1のノックダウン実験と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。本年度、マウスライディッヒ細胞腫瘍株を用いたノックダウン実験により、MAMLD1がCYP17A1発現低下を介して男性ホルモン産生を傷害し、尿道下裂を招くことが判明した。また、ノックアウトマウスにおいて、男性ホルモン産生酵素の活性低下は存在するが、性分化臨界期の種差などのため、マウスでは性分化疾患が生じないことを見出した。これは、男児のみの性分化疾患を生じるMAMLD1異常症の発症機序の解明に有用なデータである。
● SOX9の精巣特異的エンハンサー領域の同定:46,XY 性線異形成患者における高密度アレイCGH解析により、SOX9上流の約500 kb内分泌撹乱化学物質感受性の同定:われわれは、既にESR1の特定ハプロタイプが尿道下裂・停留精巣発症感受性因子であることを報告している。本年度、ESR2の特定ハプロタイプが精子形成障害発症感受性因子であることを見出した。
● 新規尿道下裂発症責任遺伝子の同定:われわれは、裂手・裂足症患者の高密度アレイCGH解析により、裂手・裂足症に尿道下裂を合併する患者において第17染色体のコピー数異常を同定し、その領域の裂手・裂足症発症候補遺伝子が、胎児期マウスの尿道においても発現していることを見出した。
● 新規ゴナドトロピン分泌不全責任遺伝子の同定:われわれは、上記と同様の裂手・裂足症患者の高密度アレイCGH解析により、裂手・裂足症に完全型ゴナドトロピン分泌不全を合併する患者において第9染色体のコピー数異常を同定し、その領域の候補遺伝子が、下垂体において発現していることを見出した。
● 次世代シークエンサーを用いた網羅的ゲノム・エピゲノム解析:これを開始した。

Current Status of Research Progress
Current Status of Research Progress

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

Reason

われわれは、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。また、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。さらに、高密度アレイCGH解析により同定した新規尿道下裂発症責任遺伝子とゴナドトロピン分泌不全責任遺伝子候補を同定し、その機能解析を進めている。
次年度には、次世代シークエンサーを用いた網羅的ゲノム・エピゲノム解析を進め、新規遺伝子の発見、臨床的多様性や遺伝的異質性を招く遺伝的機序の解明に挑みたい。

Strategy for Future Research Activity

性分化疾患のゲノム・エピゲノム解析として、次世代シークエンサーを用いた網羅的解析、アレイCGHを用いた染色体微細重複・欠失の網羅的解析、外陰部皮膚手術検体を用いたエピジェネティクス解析を進め、新規遺伝子の発見、臨床的多様性や遺伝的異質性を招く遺伝的機序の解明を行う。また、SOX9遺伝子の精巣特異的エンハンサーの同定、昨年度新規尿道下裂発症責任遺伝子候補とゴナドトロピン欠損症責任遺伝子候補の機能解析を行う予定である。これにより、性差構築の遺伝的原因について理解を深めたい。

  • Research Products

    (126 results)

All 2012 2011 Other

All Journal Article (63 results) (of which Peer Reviewed: 63 results) Presentation (58 results) Book (2 results) Remarks (3 results)

  • [Journal Article] Identification of a novel mutation in the exon 2 splice donor site of the POU1F1/PIT-1 gene in Japanese identical twins with mild combined pituitary hormone deficiency2012

    • Author(s)
      Inoue H, Ogata T, et al
    • Journal Title

      Clin Endocrinol

      Volume: 76(1) Pages: 78-87

    • Peer Reviewed
  • [Journal Article] Genetic characteristics on HLA-cass IT and class I among Japanese type 1A and type 1B diabetic children and their families2012

    • Author(s)
      Sugihara S, Ogata T, et al
    • Journal Title

      Pediatr Diabetes

      Volume: 13(1) Pages: 33-44

    • Peer Reviewed
  • [Journal Article] Mosaic upd(7)mat in a patient with Silver-Russell syndrome : correlation between phenotype and mosaic ratio in the body and the placenta2012

    • Author(s)
      Fuke-Sato T, Ogata T, et al
    • Journal Title

      Am J Med Genet A

      Volume: 158A(2) Pages: 465-8

    • Peer Reviewed
  • [Journal Article] Two-step biochemical differential diagnosis of classical 21-hydroxylase deficiency and cytochrome P450 oxidoreductase deficiency in Japanese infants using uUrinary Pregnanetriolone/Tetrahydroxycortisone Ratio and 11β-hydroxyandrosterone by Gas chromatography-mass spectrometry2012

    • Author(s)
      Koyama Y, Ogata T, et al
    • Journal Title

      Clin Chem

      Volume: 58(4) Pages: 741-7

    • Peer Reviewed
  • [Journal Article] Screening of MAMLD1 mutations in 70 children with 46,XY DSD : Identification and functional analysis of 2 new mutations2012

    • Author(s)
      Kalfa N, Ogata T, et al
    • Journal Title

      PLoS ONE

      Volume: 7(3) Pages: e32505

    • Peer Reviewed
  • [Journal Article] Identification, expression, and physiological functions of Siberian hamster gonadotropin-inhibitory hormone2012

    • Author(s)
      T.Ubuka, K.Tsutsui, et al
    • Journal Title

      Endocrinology

      Volume: 153 Pages: 373-385

    • DOI

      DOI(10.1210/en.2011-1110)

    • Peer Reviewed
  • [Journal Article] Acute stress increases the synthesis of 7α-hydroxypregnenolone, a new key neurosteroid stimulating locomotor activity, through corticosterone action2012

    • Author(s)
      S.Haraguchi, K.Tsutsui, et al
    • Journal Title

      Endocrinology

      Volume: 153 Pages: 794-805

    • DOI

      DOI(10.1210/en.2011-1422)

    • Peer Reviewed
  • [Journal Article] RNA interference of gonadotropin-inhibitory hormone gene induces arousal in songbirds2012

    • Author(s)
      T.Ubuka, K.Tsutsui, et al
    • Journal Title

      PLoS ONE

      Volume: 7 Pages: e30202

    • DOI

      DOI(10.1371/journal.pone.0030202)

    • Peer Reviewed
  • [Journal Article] Developmental changes in the mammalian gonadotropin-inhibitory hormone (GnIH) ortholog RFamide-related peptide (RFRP) and its cognate receptor GPR147 in the rat hypothalamus2012

    • Author(s)
      T.Iwasa, K.Tsutsui, et al
    • Journal Title

      Int.J.Dev.Neurosci.

      Volume: 30 Pages: 31-7

    • DOI

      DOI(10.1016/j.ijdevneu.2011.10.003)

    • Peer Reviewed
  • [Journal Article] Resveratrol promotes expression of SIRT1 and StAR in rat ovarian granulosa cells : an implicative role of SIRT1 in the ovary2012

    • Author(s)
      Y.Morita, K.Tsutsui, et al
    • Journal Title

      Reprod.Biol.Endocrinbl.

      Volume: (in press)

    • DOI

      DOI(10.1186/1477-7827-10-14)

    • Peer Reviewed
  • [Journal Article] Mollusc gonadotropin-releasing hormone directly regulates gonadal functions : A primitive endocrine system controlling reproduction2012

    • Author(s)
      N.Treen, K.Tsutsui, et al
    • Journal Title

      Gen.Comp.Endocrinol.

      Volume: (in press)

    • DOI

      DOI(10.1016/j.ygcen.2012.01.008)

    • Peer Reviewed
  • [Journal Article] Hypothalamic gonadotropin-inhibitory hormone precursor mRNA is increased during depressed food intake in heat-exposed chicks2012

    • Author(s)
      V.S.Chowdhury, K.Tsutsui, et al
    • Journal Title

      Comp.Biol.Physiol.

      Volume: (in press)

    • Peer Reviewed
  • [Journal Article] Biological activity of novel lamprey RFamide peptides, specifically PQRFamide and their related peptides2012

    • Author(s)
      D.Daukss, K.Tsutsui, et al
    • Journal Title

      Gen.Comp.Endocrinol.

      Volume: (in press)

    • Peer Reviewed
  • [Journal Article] Gonadotropin-Inhibitory Hormone Inhibits Gonadotropin-Releasing Hormone-Induced Gonadotropin Synthesis Mediated by Adenylate Cyclase/cAMP/PKA-dependent ERK Pathway in LβT2 Gonadotrope Cells2012

    • Author(s)
      Y.L.Son, K.Tsutsui, et al
    • Journal Title

      Endocrinology

      Volume: (in press)

    • Peer Reviewed
  • [Journal Article] Evolutionary origin of the structure and function of gonadotropin-inhibitory hormone : Insights from lampreys2012

    • Author(s)
      T.Osugi, K.Tsutsui, et al
    • Journal Title

      Endocrinology

      Volume: (in press)

    • Peer Reviewed
  • [Journal Article] Regulation of neurosteroid biosynthesis by neurotransmitters and neuropeptides2012

    • Author(s)
      J.L.Do Rego, K.Tsutsui, et al
    • Journal Title

      Front.Endocrin

      Volume: 3:article 4 Pages: 1-15

    • DOI

      DOI(10.3389/fendo.2012.00004)

    • Peer Reviewed
  • [Journal Article] Review : 7α-Hydroxypregnenolone, a new key regulator of amphibian locomotion : discovery, progress and prospect2012

    • Author(s)
      K.Tsutsui, S.Haraguchi, et al
    • Journal Title

      Gen.Comp.Endocrinol.

      Volume: (in press)

    • DOI

      DOI(10.1016/j.ygcen.2011.11.020)

    • Peer Reviewed
  • [Journal Article] Review : Control of circadian activity of birds by the interaction of melatonin with 7α-hydroxypregnenolone, a newly discovered neurosteroid stimulating locomotion2012

    • Author(s)
      K.Tsutsui, S.Haraguchi, et al
    • Journal Title

      J.Ornitol.

      Volume: (in press)

    • DOI

      DOI(10.1007/s10336-011-0795-x)

    • Peer Reviewed
  • [Journal Article] Estradiol promotes Purkinie dendritic growth, spinogenesis and synaptogenesis during neonatal life by inducing the expression of BDNF2012

    • Author(s)
      S.Haraguchi, K.Tsutsui, et al
    • Journal Title

      Cerebellum

      Volume: (in press)

    • DOI

      DOI(10.1007/s12311-011-0342-6)

    • Peer Reviewed
  • [Journal Article] Neurosteroid biosynthesis and action during cerebellar development2012

    • Author(s)
      K.Tsutsui
    • Journal Title

      Cerebellum

      Volume: (in press)

    • DOI

      DOI(10.1007/s12311-011-0341-7)

    • Peer Reviewed
  • [Journal Article] Review : Gonadotropin-inhibitory hormone (GnIH) : discovery, progress and prospect2012

    • Author(s)
      K.Tsutsui, T.Ubuka, et al
    • Journal Title

      Gen.Comp.Endocrinol.

      Volume: (in press)

    • Peer Reviewed
  • [Journal Article] Identification and functional analysis of novel human growth hormone-releasing hormone receptor (GHRHR) gene mutations in Japanese subjects with short stature2011

    • Author(s)
      Inoue H, Ogata T, et al
    • Journal Title

      Clin Endocrinol

      Volume: 74(2) Pages: 223-233

    • Peer Reviewed
  • [Journal Article] Androgenetic/biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd (14) pat-like phenotypes2011

    • Author(s)
      Yamazawa K, Ogata T, et al
    • Journal Title

      J Hum Genet

      Volume: 56(1) Pages: 91-93

    • Peer Reviewed
  • [Journal Article] Identification and functional analysis of novel human growth hormone secretagogue receptor (GHSR) gene mutations in Japanese subjects with short stature2011

    • Author(s)
      Inoue H, Ogata T, et al
    • Journal Title

      J Clin Endocrinol Metab

      Volume: 96(2) Pages: E373-378

    • Peer Reviewed
  • [Journal Article] GATA3 abnormalities in six patients with HDR syndrome2011

    • Author(s)
      Fukami M, Ogata T, et al
    • Journal Title

      Endocr J

      Volume: 58(2) Pages: 117-121

    • Peer Reviewed
  • [Journal Article] Identification of chromosome 15q terminal deletion with telomere sequences and its bearing on genotype-phenotype analysis2011

    • Author(s)
      Dateki S, Ogata T, et al
    • Journal Title

      Endocr J

      Volume: 58(3) Pages: 155-159

    • Peer Reviewed
  • [Journal Article] MAMLD1 (Mastermind-Like Domain Containing 1) Homozygous Gain-of-Function Missense Mutation Causing 46,XX Disorder of Sex Development in a Virilized Female2011

    • Author(s)
      Brandao MP, Ogata T, et al
    • Journal Title

      Adv Exp Med Biol

      Volume: 707(10) Pages: 129-31

    • Peer Reviewed
  • [Journal Article] Radiological evaluation of dysmorphic thorax in paternal uniparental disomy for chromosome 142011

    • Author(s)
      Miyazaki O, Ogata T, et al
    • Journal Title

      Ped Radiol

      Volume: 41(8) Pages: 1013-1019

    • Peer Reviewed
  • [Journal Article] Aromatase excess syndrome : identification of cryptic duplications and deletions leading to gain-of-function of CYP19A1 and assessment of phenotypic determinants2011

    • Author(s)
      Fukami, M, Ogata T, et al
    • Journal Title

      J Clin Endocrinol Metab

      Volume: 96(6) Pages: E1035-1043

    • Peer Reviewed
  • [Journal Article] Steroid 5α-reductase-2 deficiency and fertility2011

    • Author(s)
      Ogata T, Matsubara K
    • Journal Title

      Fertil Steril

      Volume: 95(7) Pages: e46

    • Peer Reviewed
  • [Journal Article] Mamldl knockdown reduces testosterone production and Cyp17al expression in mouse Leydig tumor cells2011

    • Author(s)
      Nakamura M, Ogata T, et al
    • Journal Title

      PLoS ONE

      Volume: 6(4) Pages: e19123

    • Peer Reviewed
  • [Journal Article] Maternal age effect on the development of Prader-Willi syndrome resulting from upd (15) mat through meiosis 1 errors2011

    • Author(s)
      Matsubara K, Ogata T, et al
    • Journal Title

      J Hum Genet

      Volume: 56(8) Pages: 566-71

    • Peer Reviewed
  • [Journal Article] Methylation screening of reciprocal genome-wide UPDs identifies novel human specific imprinted genes2011

    • Author(s)
      Nakabayashi K, Ogata T, et al
    • Journal Title

      Hum Mol Genet

      Volume: 20(16) Pages: 3188-97

    • Peer Reviewed
  • [Journal Article] Analysis of expression and structure of the rat GH secretagogue/ghrelin receptor (Ghsr) gene : roles of epigenetic modifications in transcriptional regulation2011

    • Author(s)
      Inoue H, Ogata T, et al
    • Journal Title

      Mol Cell Endocrinol

      Volume: 345 Pages: 1-15

    • Peer Reviewed
  • [Journal Article] Proximal promoter of the cytochrome P450 oxidoreductase gene : identification of microdeletions involving the untranslated exon 1 and critical function of the SP1 binding site2011

    • Author(s)
      Soneda S, Ogata T, et al
    • Journal Title

      J Clin Endocrinol Metab

      Volume: 96(11) Pages: E1881-1887

    • Peer Reviewed
  • [Journal Article] Number of CGG repeats in the FMR1 gene of Japanese patients with primary ovanan insufficiency2011

    • Author(s)
      Ishizuka B, Ogata T, et al
    • Journal Title

      Fertil Steril

      Volume: 96(5) Pages: 1170-1174

    • Peer Reviewed
  • [Journal Article] Association of primary ovarian insufficiency with a specific HLA haplotype (A^*24:02-C^*03:03-B^*35:01) in Japanese patients2011

    • Author(s)
      Ayabe T, Ogata T, et al
    • Journal Title

      Sex Dev

      Volume: 5(5) Pages: 235-240

    • Peer Reviewed
  • [Journal Article] Polymorphisms of MAMLD1 gene in hypospadias2011

    • Author(s)
      Kalfa N, Ogata T, et al
    • Journal Title

      J Pediatr Urol

      Volume: 7(6) Pages: 585-591

    • Peer Reviewed
  • [Journal Article] Advanced maternal age and the development of Prader-Willi syndrome resulting from upd (15) mat through non-disjunction at meiosis 12011

    • Author(s)
      Ogata T, Matsubara K, et al
    • Journal Title

      J Mamm Ova Res

      Volume: 28(3) Pages: 96-102

    • Peer Reviewed
  • [Journal Article] Synchronised expressions of LPXRFamide peptide and its receptor genes : seasonal, diurnal and circadian changes during spawning period in grasspuffer2011

    • Author(s)
      M.Shahjahan, K.Tsutsui, et al
    • Journal Title

      J.Endocrinol.

      Volume: 23 Pages: 39-51

    • DOI

      DOI(10.1111/j.1365-2826.2010.02081.x)

    • Peer Reviewed
  • [Journal Article] Estrogen biosynthesis in the gonad of the frog Rana rugosa2011

    • Author(s)
      T.Isomura, K.Tsutsui, et al
    • Journal Title

      Gen.Comp.Endocrinol.

      Volume: 170 Pages: 207-212

    • DOI

      DOI(10.1016/j.ygcen.2010.10.015)

    • Peer Reviewed
  • [Journal Article] Expression of cytochrome P450 side-chain cleavage enzyme mRNA and production of pregnenolone in the brain of the red-bellied newt Cynops pyrrhogaster2011

    • Author(s)
      M.Takase, K.Tsutsui, et al
    • Journal Title

      Gen.Comp.Endocrinol.

      Volume: 170 Pages: 468-474

    • DOI

      DOI(10.1016/j.ygcen.2010.10.019)

    • Peer Reviewed
  • [Journal Article] Effects of gonadotropin-inhibitory hormone on folliculogenesis and steroidogenesis of cyclic mice2011

    • Author(s)
      P.Singh, K.Tsutsui, et al
    • Journal Title

      Fertil.Steril.

      Volume: 95 Pages: 1397-1404

    • DOI

      DOI(10.1016/j.fertnstert.2010.03.052)

    • Peer Reviewed
  • [Journal Article] Identification, localization and expression of LPXRFamide peptides, and melatonin-dependent induction of their precursor mRNA in the newt brain2011

    • Author(s)
      V.S.Chowdhury, K.Tsutsui, et al
    • Journal Title

      J.Endocrinol.

      Volume: 209 Pages: 1-12

    • DOI

      DOI(10.1530/JOE-10-0494)

    • Peer Reviewed
  • [Journal Article] Light-dependent and circadian clock-regulated activation of SREBP, XBP1 and HSF pathways in the pineal gland2011

    • Author(s)
      M.Hatori, K.Tsutsui, et al
    • Journal Title

      Proc.Natl.Acad.Sci.USA

      Volume: 108 Pages: 4864-4869

    • DOI

      DOI(10.1073/pnas.1015959108)

    • Peer Reviewed
  • [Journal Article] Identification, localization and functional Implication of 26RFa ortholog peptide in the brain of zebra finch (Taeniopygia guttata)2011

    • Author(s)
      Y.Tobari, K.Tsutsui, et al
    • Journal Title

      J.Neuroendocrinol.

      Volume: 23 Pages: 791-803

    • DOI

      DOI(10.1111/j.1365-2826.2011.02179.x)

    • Peer Reviewed
  • [Journal Article] Immunohistochemical localization of GnRH and RFamide-related peptide-3 during estrous cycle of mouse : Their potential role in the ovarian activity2011

    • Author(s)
      P.Singh, K.Tsutsui, et al
    • Journal Title

      J.Mol.Histol.

      Volume: 42 Pages: 371-81

    • DOI

      DOI(10.1007/s10735-011-9340-8)

    • Peer Reviewed
  • [Journal Article] Characterization of novel RFamide peptides in the central nervous system of the brown hagfish : isolation, localization, and functional analysis2011

    • Author(s)
      T.Osugi, K.Tsutsui, et al
    • Journal Title

      Endocrinology

      Volume: 152 Pages: 4252-4264

    • Peer Reviewed
  • [Journal Article] Hagfish, genome duplications, and RFamide neuropeptide evolution2011

    • Author(s)
      T.Osugi, K.Tsutsui, et al
    • Journal Title

      Endocrinology

      Volume: 152 Pages: 4010-4013

    • DOI

      DOI(10.1210/en.2011-1375)

    • Peer Reviewed
  • [Journal Article] Mini-review : Molecular evolution and functional characterization of the orexigenic peptide 26RFa and its receptor in vertebrates : Discovery and comparative aspects2011

    • Author(s)
      K.Ukena, K.Tsutsui, et al
    • Journal Title

      Cell Tissue Res

      Volume: 343 Pages: 475-481

    • DOI

      DOI(10.1007/s00441-010-1116-z)

    • Peer Reviewed
  • [Journal Article] Review : Historical view of development of comparative endocrinology in Japan2011

    • Author(s)
      S.Kikuyama, K.Tsutsui
    • Journal Title

      Gen.Comp.Endocrinol.

      Volume: 171 Pages: 117-123

    • DOI

      DOI(10.1016/j.ygcen.2011.02.004)

    • Peer Reviewed
  • [Journal Article] Review : Mode of action and functional significance of 7α-hydroxypregnenolone stimulating locomotor activity2011

    • Author(s)
      S.Haraguchi, K.Tsutsui, et al
    • Journal Title

      Front.Endocrin.

      Volume: 2:article 23 Pages: 1-8

    • DOI

      DOI(10.3389/fendo.2011.00023)

    • Peer Reviewed
  • [Journal Article] Review : Neurosteroid biosynthesis and function in the brain of domestic birds2011

    • Author(s)
      K.Tsutsui
    • Journal Title

      Front.Endocrin.

      Volume: 2:article 37 Pages: 1-14

    • DOI

      DOI(10.3389/fendo.2011.00037)

    • Peer Reviewed
  • [Journal Article] Review : Biosynthesis, mode of action and functional significance of neurosteroids in the Purkinje cell2011

    • Author(s)
      K.Tsutsui, K.Ukena, H, et al
    • Journal Title

      Front.Endocrin.

      Volume: 2:article 61 Pages: 1-9

    • DOI

      DOI(10.3389/fendo.2011.00061)

    • Peer Reviewed
  • [Journal Article] Review : Neurosteroid biosynthesis in the brain of amphibians2011

    • Author(s)
      H.Vaudry, K.Tsutsui, et al
    • Journal Title

      Front.Endocrin

      Volume: 2:article 79 Pages: 1-9

    • DOI

      DOI(10.3389/fendo.2011.00079)

    • Peer Reviewed
  • [Journal Article] Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype

    • Author(s)
      Kagami M, Ogata T, et al
    • Journal Title

      Eur J Hum Genet

      Volume: (accepted)(Epub ahead of print)

    • DOI

      doi:10.1038/ejhg.2012.26

    • Peer Reviewed
  • [Journal Article] 46, XY gonadal dysgenesis : new SRY point mutation in two siblings with paternal germ line mosaicism

    • Author(s)
      Stoppa-Vaucher S, Ogata T, et al
    • Journal Title

      Clin Genet

      Volume: (in press)(Epub ahead of print)

    • DOI

      doi:10.1111/j.1399-0004.2011.01832.x

    • Peer Reviewed
  • [Journal Article] Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan

    • Author(s)
      Abe Y, Aoki Y, Ogata T, et al
    • Journal Title

      Am J Med Genet A

      Volume: (accepted)(Epub ahead of print)

    • DOI

      2012Apr11.doi:10.1002/ajmg.a.35292

    • Peer Reviewed
  • [Journal Article] Association between fetal myocardial tissue Doppler indices before birth and gestational age-specific birth weight in low-risk term pregnancies

    • Author(s)
      Sekii K, Ogata T, et al
    • Journal Title

      Ultrasound Obstet Gynecol

      Volume: (accepted)(Epub ahead of print)

    • DOI

      2012Jan12

    • Peer Reviewed
  • [Journal Article] Complex genomic rearrangements in the SOX9 5' region in a patient with Pierre Robin sequence and hypoplastic left scapula

    • Author(s)
      Fukami M, Ogata T, et al
    • Journal Title

      Am J Med Genet A

      Volume: (accepted)

    • Peer Reviewed
  • [Journal Article] Haplotype analysis of ESR2 in Japanese patients with spermatogenic failure : Implications for genetic susceptibility to estrogenic environmental endocrine disruptors

    • Author(s)
      Ogata T, Fukami M, et al
    • Journal Title

      Int J Androl

      Volume: (accepted)

    • Peer Reviewed
  • [Journal Article] Molecular bases and phenotypic determinants of aromatase excess syndrome

    • Author(s)
      Fukami M, Shozu M, Ogata T
    • Journal Title

      Int J Endocrinol

      Volume: (accepted)

    • Peer Reviewed
  • [Journal Article] MAMLD1 and 46,XY disorders of sex development

    • Author(s)
      Ogata T, Sano S, et al
    • Journal Title

      Seminars in Reproductive Medicine

      Volume: (accepted)

    • Peer Reviewed
  • [Presentation] Create new research directions in comparative endocrinology from Asia and Oceania2012

    • Author(s)
      K.Tsutsui
    • Organizer
      The 7th Congress of the Asia and Oceania Society for Comparative Endocrinology
    • Place of Presentation
      Sunway Resort Hotel, Kuala Lumpur, Malaysia
    • Year and Date
      20120303-20120307
  • [Presentation] Melatonin stimulates the synthes's and release of gonadotropin-inhibitory hormone in birds2012

    • Author(s)
      V.S.Chowdhury, T.Ubuka, K.Tsutsui
    • Organizer
      The 7th Congress of the Asia and Oceania Society for Comparative Endocrinology
    • Place of Presentation
      Sunway Resort Hotel, Kuala Lumpur, Malaysia
    • Year and Date
      20120303-20120307
  • [Presentation] RNA interference of gonadotropin-inhibitory hormone gene induces aggressive and sexual behaviors in birds2012

    • Author(s)
      T.Ubuka, K.Tsutsui
    • Organizer
      The 7th Congress of the Asia and Oceania Society for Comparative Endocrinology
    • Place of Presentation
      Sunway Resort Hotel, Kuala Lumpur, Malaysia
    • Year and Date
      20120303-20120307
  • [Presentation] 性の分化・発達と小児医療2012

    • Author(s)
      緒方勤
    • Organizer
      第188回浜松市小児科医会研究会
    • Place of Presentation
      浜松
    • Year and Date
      2012-03-07
  • [Presentation] Mollusc gonadotropin-releasing hormone directly regulates gonadal functions : A primitive endocrine system controlling reproduction2012

    • Author(s)
      N.Treen, K.Tsutsui, et al
    • Organizer
      The 7th Congress of the Asia and Oceania Society for Comparative Endocrinology
    • Place of Presentation
      Sunway Resort Hotel, Kuala Lumpur, Malaysia
    • Year and Date
      2012-03-05
  • [Presentation] Evolutionary origin of the structure and function of gonadotropin-inhibitory hormone (GnIH)2012

    • Author(s)
      T.Osugi, K.Tsutsui, et al
    • Organizer
      The 7th Congress of the Asia and Oceania Society for Comparative Endocrinology
    • Place of Presentation
      Sunway Resort Hotel, Kuala Lumpur, Malaysia
    • Year and Date
      2012-03-05
  • [Presentation] Acute stress increases the synthesis of 7alpha-hydroxypregnenolone, a new key neurosteroid stimulating locomotor activity, through corticosteroneaction2012

    • Author(s)
      S.Haraguchi, K.Tsutsui, et al
    • Organizer
      The 7th Congress of the Asia and Oceania Society for Comparative Endocrinology
    • Place of Presentation
      Sunway Resort Hotel, Kuala Lumpur, Malaysia
    • Year and Date
      2012-03-05
  • [Presentation] Identification and distribution of gonadotropin-inhibitory hormone (GnIH) in the brain of Zebra finch2012

    • Author(s)
      Y.Tobari, K.Tsutsui, et al
    • Organizer
      The 7th Congress of the Asia and Oceania Society for Comparative Endocrinology
    • Place of Presentation
      Sunway Resort Hotel, Kuala Lumpur, Malaysia
    • Year and Date
      2012-03-05
  • [Presentation] 性分化疾患の発症機序2011

    • Author(s)
      緒方勤
    • Organizer
      第56回日本未熟児新生児学会学術集会:性分化疾患の新生児期管理
    • Place of Presentation
      東京
    • Year and Date
      20111113-20111115
  • [Presentation] ターナー症候群を招く分子基盤2011

    • Author(s)
      緒方勤
    • Organizer
      日本人類遺伝学会第56回大会共催セミナー
    • Place of Presentation
      千葉
    • Year and Date
      20111110-20111112
  • [Presentation] Gonadotropin-inhibitory hormone (GnIH), a new key neurohormone controlling vertebrate reproduction : Biosynthesis, mode of action and functional significance2011

    • Author(s)
      K.Tsutsui
    • Organizer
      The 2011 International Biomodulation Symposium on 'Biotechnology for Future Era'
    • Place of Presentation
      Seoul National University, Seoul, Korea
    • Year and Date
      20110526-20110528
  • [Presentation] Disorders of Sex Development : Recent Progress. Plenary Lecture2011

    • Author(s)
      Ogata T
    • Organizer
      In : The 13th European Congress of Endocrinology (ECE 2011)
    • Place of Presentation
      Rotterdam Netherlands
    • Year and Date
      20110430-20110504
  • [Presentation] Genetic susceptibility to endocrine disrupters : Estrogen receptor polymorphisms2011

    • Author(s)
      Ogata T
    • Organizer
      Plenary Lecture. In : 6^<th> Copenhagen Workshop on Endocrine Disrupters (COW 2011)
    • Place of Presentation
      Copenhagen, Denmark
    • Year and Date
      20110426-20110429
  • [Presentation] 性ホルモン産生異常と性分化2011

    • Author(s)
      緒方勤
    • Organizer
      第84回日本内分泌学会学術総会教育講演
    • Place of Presentation
      神戸
    • Year and Date
      20110421-20110423
  • [Presentation] 脳の性分化に関する最近の知見2011

    • Author(s)
      緒方勤
    • Organizer
      第84回日本内分泌学会学術総会シンポジウム:性分化疾患の診断・治療戦略
    • Place of Presentation
      神戸
    • Year and Date
      20110421-20110423
  • [Presentation] 性分化疾患の臨床像と新規遺伝子MAMLD1の同定2011

    • Author(s)
      緒方勤
    • Organizer
      第28回日本医学会総会シンポジウム:内分泌疾患-病態解明と治療の進歩
    • Place of Presentation
      東京(東日本大震災のためDVD収録で配布)
    • Year and Date
      20110408-20110410
  • [Presentation] 「システム生命科学による医・理・工学の先端研究」生体機能を調節する脳ホルモンの発見と理解の到達点2011

    • Author(s)
      筒井和義
    • Organizer
      ハイテクジョイントシンポジウム
    • Place of Presentation
      早稲田大学理工学部50号館・東京
    • Year and Date
      2011-12-10
  • [Presentation] ターナー症候群を招く分子基盤2011

    • Author(s)
      緒方勤
    • Organizer
      第7回北関東遺伝診療フォーラム
    • Place of Presentation
      大宮
    • Year and Date
      2011-12-09
  • [Presentation] キンカチョウの脳における生殖線刺激ホルモン放出抑制ホルモン(GnIH)の同定と脳内分布2011

    • Author(s)
      戸張靖子、筒井和義, 他
    • Organizer
      第36回日本比較内分泌学会大会
    • Place of Presentation
      都道府県会館・東京
    • Year and Date
      2011-11-24
  • [Presentation] ハムスターの生殖腺刺激ホルモン放出抑制ホルモン(GnIH)の同定、発現制御および生理作用2011

    • Author(s)
      産賀崇由、筒井和義, 他
    • Organizer
      第36回日本比較内分泌学会大会
    • Place of Presentation
      都道府県会館・東京
    • Year and Date
      2011-11-24
  • [Presentation] ウシガエルの脳におけるneuropeptide FF cDNAのクローニングと内因性リガンドの同定2011

    • Author(s)
      大杉知裕、筒井和義, 他
    • Organizer
      第36回日本比較内分泌学会大会
    • Place of Presentation
      都道府県会館・東京
    • Year and Date
      2011-11-24
  • [Presentation] メダカ脳におけるgonadotropin-inhibitory hormone (GnIH) cDNAのクローニング2011

    • Author(s)
      岡村友貴、筒井和義, 他
    • Organizer
      第36回日本比較内分泌学会大会
    • Place of Presentation
      都道府県会館・東京
    • Year and Date
      2011-11-24
  • [Presentation] The mammalian GnIH ortholog RFRP inhibits gonadotropin gene expression by inhibiting AC/cAMP/PKA-mediated ERK activation2011

    • Author(s)
      Kazuyoshi Tsutsui, et al
    • Organizer
      第36回日本比較内分泌学会大会
    • Place of Presentation
      都道府県会館・東京
    • Year and Date
      2011-11-24
  • [Presentation] ストレスが誘導する脳内7alpha-ヒドロキシプレグネノロン合成の変動とその制御機構2011

    • Author(s)
      原口省吾、筒井和義, 他
    • Organizer
      第36回日本比較内分泌学会大会
    • Place of Presentation
      都道府県会館・東京
    • Year and Date
      2011-11-24
  • [Presentation] 遡上中のサケの脳内では7alpha-ヒドロキシプレグネノロンの合成が高まる2011

    • Author(s)
      チャンジュンヒョン、筒井和義, 他
    • Organizer
      第36回日本比較内分泌学会大会
    • Place of Presentation
      都道府県会館・東京
    • Year and Date
      2011-11-24
  • [Presentation] 無脊椎動物の脳におけるニューロステロイド合成:棘皮動物ヒトデの解析2011

    • Author(s)
      市丸修子、筒井和義, 他
    • Organizer
      第36回日本比較内分泌学会大会
    • Place of Presentation
      都道府県会館・東京
    • Year and Date
      2011-11-24
  • [Presentation] 無脊椎動物の脳におけるニューロステロイド合成:頭足類マダコの解析2011

    • Author(s)
      喜多悠斗、筒井和義, 他
    • Organizer
      第36回日本比較内分泌学会大会
    • Place of Presentation
      都道府県会館・東京
    • Year and Date
      2011-11-24
  • [Presentation] ステロイド性の雌イモリ誘引フェロモン2011

    • Author(s)
      豊田ふみよ、筒井和義, 他
    • Organizer
      第36回日本比較内分泌学会大会
    • Place of Presentation
      都道府県会館・東京
    • Year and Date
      2011-11-24
  • [Presentation] Bivalve mollusc gonadotropin-releasing hormone2011

    • Author(s)
      Kazuyoshi Tsutsui, et al
    • Organizer
      第36回日本比較内分泌学会大会
    • Place of Presentation
      都道府県会館・東京
    • Year and Date
      2011-11-24
  • [Presentation] 生殖を制御する新規脳ホルモンGnIHの起源と分子進化2011

    • Author(s)
      筒井和義
    • Organizer
      第36回日本比較内分泌学会大会シンポジウム
    • Place of Presentation
      都道府県会館・東京
    • Year and Date
      2011-11-23
  • [Presentation] 性分化疾患の分子基盤と臨床的対応2011

    • Author(s)
      緒方勤
    • Organizer
      第117回日本小児科学会甲信地方会
    • Place of Presentation
      甲府
    • Year and Date
      2011-11-20
  • [Presentation] 子どもを取り巻く環境と小児の健康2011

    • Author(s)
      緒方勤
    • Organizer
      第40回Medical Photonics Seminar
    • Place of Presentation
      浜松
    • Year and Date
      2011-10-14
  • [Presentation] キンカチョウの脳における26RFaペプチドの同定と機能解析2011

    • Author(s)
      戸張靖子、筒井和義, 他
    • Organizer
      第82回日本動物学会大会
    • Place of Presentation
      大雪アリーナ旭川
    • Year and Date
      2011-09-21
  • [Presentation] メダカの脳における生殖腺刺激ホルモン放出抑制ホルモン(GnIH)cDNAのクローニング2011

    • Author(s)
      岡村友貴、筒井和義, 他
    • Organizer
      第82回日本動物学会大会
    • Place of Presentation
      大雪アリーナ旭川
    • Year and Date
      2011-09-21
  • [Presentation] ヤツメウナギの脳におけるLPXRFamideペプチドの同定と機能解析2011

    • Author(s)
      大杉知裕、筒井和義, 他
    • Organizer
      第82回日本動物学会大会
    • Place of Presentation
      大雪アリーナ旭川
    • Year and Date
      2011-09-21
  • [Presentation] GnHはAC/cAMP/PKAシグナリングによりゴナドトロピン発現を抑制する2011

    • Author(s)
      ソン ユリ、筒井和義, 他
    • Organizer
      第82回日本動物学会大会
    • Place of Presentation
      大雪アリーナ旭川
    • Year and Date
      2011-09-21
  • [Presentation] ストレスは生殖腺刺激ホルモン放出抑制ホルモン(GnIH)とその受容体の発現を増加させる2011

    • Author(s)
      福田裕治郎、筒井和義, 他
    • Organizer
      第82回日本動物学会大会
    • Place of Presentation
      大雪アリーナ旭川
    • Year and Date
      2011-09-21
  • [Presentation] ストレスによる脳内7alpha-ヒドロキシプレグネノロン合成の変動とその生理作用2011

    • Author(s)
      原口省吾、筒井和義, 他
    • Organizer
      第82回日本動物学会大会
    • Place of Presentation
      大雪アリーナ旭川
    • Year and Date
      2011-09-21
  • [Presentation] テストステロンによる生殖腺刺激ホルモン放出抑制ホルモン(GnIH)受容体の発現制御機構2011

    • Author(s)
      水野貴信、筒井和義, 他
    • Organizer
      第82回日本動物学会大会
    • Place of Presentation
      大雪アリーナ旭川
    • Year and Date
      2011-09-21
  • [Presentation] 雄イモリ腹腺由来ステロイドの雌誘引作用2011

    • Author(s)
      豊田ふみよ、筒井和義, 他
    • Organizer
      第82回日本動物学会大会
    • Place of Presentation
      大雪アリーナ旭川
    • Year and Date
      2011-09-21
  • [Presentation] 遡上中のサケの脳では活動性を高める7alpha-ヒドロキシプレグネノロンの合成が高まる2011

    • Author(s)
      チャンジュンヒヨン、筒井和義, 他
    • Organizer
      第82回日本動物学会大会
    • Place of Presentation
      大雪アリーナ旭川
    • Year and Date
      2011-09-21
  • [Presentation] プルキンエ細胞における7alpha-ヒドロキシプレグネノロン合成の変動とその制御機構2011

    • Author(s)
      奥山真一郎、筒井和義, 他
    • Organizer
      第82回日本動物学会大会
    • Place of Presentation
      大雪アリーナ旭川
    • Year and Date
      2011-09-21
  • [Presentation] Neurosteroid biosynthesis and action during cerebellar development2011

    • Author(s)
      K.Tsutsui
    • Organizer
      The 4th International Symposium : Society for Research on the Cerebellum
    • Place of Presentation
      University of Tokyo, Tokyo, Japan
    • Year and Date
      2011-09-18
  • [Presentation] 性分化疾患の分子基盤:update2011

    • Author(s)
      緒方勤
    • Organizer
      第12回山陰内分泌研究会
    • Place of Presentation
      米子
    • Year and Date
      2011-09-16
  • [Presentation] 性分化疾患の分子基盤2011

    • Author(s)
      緒方勤
    • Organizer
      第3回岐阜小児内分泌学術講演会
    • Place of Presentation
      岐阜
    • Year and Date
      2011-09-15
  • [Presentation] 性分化疾患研究の進歩2011

    • Author(s)
      緒方勤
    • Organizer
      第81回京都内分泌同好会
    • Place of Presentation
      京都
    • Year and Date
      2011-09-03
  • [Presentation] ヌーナン症候群とGH治療2011

    • Author(s)
      緒方勤
    • Organizer
      ヌーナン症候群勉強会
    • Place of Presentation
      東京
    • Year and Date
      2011-08-27
  • [Presentation] 子どもを取り巻く環境と健康2011

    • Author(s)
      緒方勤
    • Organizer
      浜松小児科医会
    • Place of Presentation
      浜松
    • Year and Date
      2011-07-27
  • [Presentation] 乳幼児期および思春期の性について2011

    • Author(s)
      緒方勤
    • Organizer
      第1回乳幼児発達指導研究会
    • Place of Presentation
      浜松
    • Year and Date
      2011-07-25
  • [Presentation] SHOX遺伝子異常症2011

    • Author(s)
      緒方勤
    • Organizer
      Update.Forum on Turner syndrome in Osaka
    • Place of Presentation
      大阪
    • Year and Date
      2011-07-23
  • [Presentation] Melatonin regulates diurnal changes in locomotor activity by regulating 7alpha-hydroxypregnenolone synthesis in newts2011

    • Author(s)
      K.Tsutsui, et al
    • Organizer
      The inaugural meeting of the North American Society for Comparative Endocrinology (NASCE 2011)
    • Place of Presentation
      Michigan
    • Year and Date
      2011-07-15
  • [Presentation] Identification, mode of action and functional significance of 7alpha-hydroxypregnenolone, a new key regulator of amphibian locomotion2011

    • Author(s)
      K.Tsutsui, H.Vaudry
    • Organizer
      The 7th International Symposium on Amphibian and Reptilian Endocrinology and Neurobiology
    • Place of Presentation
      University of Michigan, Ann Arbor, USA
    • Year and Date
      2011-07-12
  • [Presentation] 7alpha-Hydroxypregnenolone acts as a serotonin-inducing factor to increase locomotor activity via corticosterone action under stress2011

    • Author(s)
      S.Haraguchi, K.Tsutsui, et al
    • Organizer
      The 7th International Symposium on Amphibian and Reptilian Endocrinology and Neurobiology (ISAREN)
    • Place of Presentation
      Michigan
    • Year and Date
      2011-07-12
  • [Presentation] Genetic susceptibility to endocrine disrupters : Estrogen receptor polymorphisms2011

    • Author(s)
      Ogata T
    • Organizer
      In : Hamamatsu DOHaD Conference
    • Place of Presentation
      Hamamatsu, Japan
    • Year and Date
      2011-07-08
  • [Presentation] 子どもの成長と成熟2011

    • Author(s)
      緒方勤
    • Organizer
      国際医療福祉大学熱海病院学術講演会
    • Place of Presentation
      熱海
    • Year and Date
      2011-07-01
  • [Presentation] 中枢性性線機能低下症の基礎と臨床2011

    • Author(s)
      緒方勤
    • Organizer
      静岡産科婦人科学会春季学術集会
    • Place of Presentation
      静岡
    • Year and Date
      2011-06-05
  • [Presentation] Discovery and evolutionary history of gonadotropin-inhibitory hormone (GnIH), a new key neuropeptide controlling reproduction2011

    • Author(s)
      K.Tsutsui
    • Organizer
      The 8th International Congress of Comparative Physiology and Biochemistry (ICCPB2011)
    • Place of Presentation
      Nagoya Congress Center, Nagoya, Japan
    • Year and Date
      2011-06-03
  • [Presentation] ニューロステロイドの生合成とオーガナイジング作用2011

    • Author(s)
      筒井和義
    • Organizer
      第84回日本内分泌学会学術総会教育講演
    • Place of Presentation
      神戸国際会議場・神戸
    • Year and Date
      2011-04-22
  • [Book] 高等学校新生物基礎2012

    • Author(s)
      筒井和義(監修)
    • Total Pages
      176
    • Publisher
      第一学習社
  • [Book] 高等学校生物基礎2012

    • Author(s)
      筒井和義(監修)
    • Total Pages
      304
    • Publisher
      第一学習社
  • [Remarks]

    • URL

      http://www2.hama-med.ac.jp/wlb/pediatr/patient/index.html

  • [Remarks]

    • URL

      http://www.nch.go.jp/endocrinology/index.htm

  • [Remarks]

    • URL

      http://www.f.waseda.jp/k-tsutsui/

URL: 

Published: 2013-06-26  

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