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Paternal uniparental disomy 14 and related conditions: Placental expression analyses and histological examination

Research Project

Project/Area Number 23390083
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Human genetics
Research InstitutionNational Research Institute for Child Health and Development

Principal Investigator

KAGAMI Masayo  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 (70399484)

Co-Investigator(Kenkyū-buntansha) 松岡 健太郎  国立成育医療研究センター, 病理診断部 (90286443)
Co-Investigator(Renkei-kenkyūsha) 遠藤 大輔  東京医科歯科大学, 難治疾患研究所, エピジェネティクス分野 (90516288)
Project Period (FY) 2011-04-01 – 2014-03-31
Project Status Completed (Fiscal Year 2013)
Budget Amount *help
¥19,760,000 (Direct Cost: ¥15,200,000、Indirect Cost: ¥4,560,000)
Fiscal Year 2013: ¥5,720,000 (Direct Cost: ¥4,400,000、Indirect Cost: ¥1,320,000)
Fiscal Year 2012: ¥5,720,000 (Direct Cost: ¥4,400,000、Indirect Cost: ¥1,320,000)
Fiscal Year 2011: ¥8,320,000 (Direct Cost: ¥6,400,000、Indirect Cost: ¥1,920,000)
Keywordsエピジェネティクス / ゲノムインプリンティング / インプリンティング / 胎盤 / 成長障害 / 遺伝子調節 / 肝芽腫
Research Abstract

We performed placental study of two cases with UPD(14)pat and a case with maternal microdeletion involving DLK1, DMRs and MEG3. RTL1 and DLK1 expressed only in endothelial cells of villous vessels. In the placentas of UPD(14)pat revealing placentomegaly, the expression of DLK1 and RTL1 increased, even though in the placenta of a case with microdeletion revealing placentomegaly, only the expression of RTL1 increased. Electron microscopic study showed hyperplasia of the endothelial cells and the pericytes in the placentas of UPD(14)pat. Expression analysis using placentas of UPD(14)pat showed excessive RTL1 expression above the normal control levels because of a synergic effect between the biallelic activation of RTL1 and loss of functional microRNA in RTL1as as a repressor for RTL1. These results indicate that excessive RTL1 expression causes placentomegaly and RTL1 expression is regulated through an RNAi mechanism. RTL1 may play an essential role in the development of human placenta.

Report

(4 results)
  • 2013 Annual Research Report   Final Research Report ( PDF )
  • 2012 Annual Research Report
  • 2011 Annual Research Report
  • Research Products

    (81 results)

All 2014 2013 2012 2011 2010 Other

All Journal Article (29 results) (of which Peer Reviewed: 7 results) Presentation (43 results) (of which Invited: 4 results) Book (4 results) Remarks (5 results)

  • [Journal Article] Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson-Golabi-Behmel syndrome and germline GPC3 mutation2014

    • Author(s)
      Kosaki R, Takenouchi T, Takeda N, Kagami M, Nakabayashi K, Hata K, Kosaki K
    • Journal Title

      American Journal Medical Genetics A

      Volume: 164A(4) Pages: 993-997

    • Related Report
      2013 Final Research Report
  • [Journal Article] Prenatal Genetic Testing for a Microdeletion at Chromosome 14q32.2 Imprinted Region Leading to UPD(14)pat-like Phenotype2014

    • Author(s)
      Sasaki A, Sumie M, Wada S, Kosaki R, Kuroswa K, Fukami M, Sago H, Ogata T, and Kagami M
    • Journal Title

      American Journal Medical Genetics A

      Volume: 164(1) Pages: 264-266

    • Related Report
      2013 Final Research Report
  • [Journal Article] Roles of epigenome in mammalian spermatogenesis2014

    • Author(s)
      Song N, Endo D, Koji T
    • Journal Title

      Reproductive Medicine and Biology

      Volume: 13 Pages: 59-69

    • Related Report
      2013 Final Research Report
  • [Journal Article] TDAG8 activation inhibits osteoclastic bone resorption2014

    • Author(s)
      Hikiji H, Endo D, Horie K, Harayama T, Akahoshi N, Igarashi H, Kihara Y, Yanagida K, Takeda J, Koji T, Shimizu T, Ishii S
    • Journal Title

      FASEB Journal

      Volume: 28(2) Pages: 871-879

    • Related Report
      2013 Final Research Report
  • [Journal Article] Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson-Golabi-Behmel syndrome and germline GPC3 mutation.2014

    • Author(s)
      Kosaki R, Takenouchi T, Takeda N, Kagami M, Nakabayashi K, Hata K, Kosaki K.
    • Journal Title

      American Journal Medical Genetics A

      Volume: 164A(4) Issue: 4 Pages: 993-997

    • DOI

      10.1002/ajmg.a.36364

    • Related Report
      2013 Annual Research Report
    • 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 Issue: 1 Pages: 264-266

    • DOI

      10.1002/ajmg.a.36185

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Molecular and clinical studies in 138 Japanese patients with silver-russell syndrome2013

    • 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(3)

    • Related Report
      2013 Final Research Report
  • [Journal Article] High expression of trimethylated histone H3 at lysine 27 predicts better prognosis in non small cell lung cancer2013

    • Author(s)
      Chen X, Song N, Matsumoto K, Nanashima A, Nagayasu T, Hayashi T, Ying M, Endo D, Wu Z and Koji T
    • Journal Title

      International Journal of oncology

      Volume: l43(5) Pages: 1467-1480

    • NAID

      120006986766

    • Related Report
      2013 Final Research Report
  • [Journal Article] UPD(14)pat/mat 症候群2013

    • Author(s)
      鏡雅代
    • Journal Title

      小児科臨床増刊 臨床医が知っておきたい先天異常

      Volume: 66 (suppl) Pages: 1315-1320

    • Related Report
      2013 Final Research Report
  • [Journal Article] 14 番染色体インプリンティング異常症2013

    • Author(s)
      鏡雅代
    • Journal Title

      小児内科

      Volume: 45 (6) Pages: 2013-2016

    • Related Report
      2013 Final Research Report
  • [Journal Article] Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome2013

    • Author(s)
      T. Fuke, S. Mizuno, T. Nagai, T. Hasegawa, R. Horikawa, Y. Miyoshi, K. Muroya, T. Kondoh, C. Numakura, S. Sato, K. Nakabayashi, C. Tayama, K. Hata, S. Sano, K. Matsubara, M. Kagami, K. Yamazawa, T. Ogata
    • Journal Title

      PLoS. One

      Volume: 8 Issue: 3 Pages: e60105-e60105

    • DOI

      10.1371/journal.pone.0060105

    • Related Report
      2013 Annual Research Report 2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 5) インプリント異常症2013

    • Author(s)
      鏡 雅代
    • Journal Title

      遺伝子医学MOOK25

      Volume: 25 Pages: 202-209

    • Related Report
      2013 Annual Research Report
  • [Journal Article] UPD(14)pat/mat症候群2013

    • Author(s)
      鏡 雅代
    • Journal Title

      小児科臨床

      Volume: 66 (suppl) Pages: 1315-1320

    • Related Report
      2013 Annual Research Report
  • [Journal Article] 14番染色体インプリンティング異常症2013

    • Author(s)
      鏡 雅代
    • Journal Title

      小児内科

      Volume: 45 (6) Pages: 2013-2016

    • Related Report
      2013 Annual Research Report
  • [Journal Article] Paternal uniparental disomy 14 and related disorders : Placental gene expression analyses and histological examinations2012

    • Author(s)
      Kagami M, Matsuoka K, Nagai T, Yamanaka M, Kurosawa K, Suzumori N, Sekita Y, Miyado M, Matsubara K, Fuke T, Kato F, Fukami M, Ogata T
    • Journal Title

      Epigenetics

      Volume: 7 (10) Pages: 1142-1150

    • Related Report
      2013 Final Research Report
  • [Journal Article] Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype2012

    • Author(s)
      Kagami M, Kato F, Matsubara K, Sato T, Nishimura G, Ogata T
    • Journal Title

      European Journal of Human Genetics

      Volume: 20 (9) Pages: 928-932

    • Related Report
      2013 Final Research Report
  • [Journal Article] Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies2012

    • Author(s)
      Hiura H, Okae H, Miyauchi N, Sato F, Sato A, Van De Pette M, John RM, Kagami M, Nakai K, Soejima H, Ogata T, Arima T
    • Journal Title

      Human Reproduction

      Volume: 27(8) Pages: 2541-2548

    • Related Report
      2013 Final Research Report
  • [Journal Article] Squamous metaplasia in the cyst epithelium of type 1 congenital pulmonary airway malformation after thoracoamniotic shunt placement2012

    • Author(s)
      Matsuoka K, Hayashi S, Urano F, Zhu LJ, Okita H, Sago H, Nakazawa A
    • Journal Title

      Human Pathology

      Volume: 43(9) Pages: 1413-1417

    • Related Report
      2013 Final Research Report
  • [Journal Article] Estrogen-dependent regulation of sodium/hydrogen exchanger-3 (NHE3) expression via estrogen receptor β in proximal colon of pregnant mice2012

    • Author(s)
      Choijookhuu N, Sato Y, Nishino T, Endo D, Hishikawa Y, Koji T
    • Journal Title

      Histochemistry and Cell Biology

      Volume: 137(5) Pages: 575-587

    • NAID

      120006985370

    • Related Report
      2013 Final Research Report
  • [Journal Article] 一絨毛膜性二羊膜性胎盤を用いた血管吻合検索方法の検討日本周産期・新生児医学会雑誌2012

    • Author(s)
      伊藤由紀, 松岡健太郎, 林 聡, 江川真希子, 田中忠夫, 左合治彦
    • Journal Title

      新生児医学会雑誌

      Volume: 48 (1) Pages: 81-86

    • Related Report
      2013 Final Research Report
  • [Journal Article] In situ ハイブリダイゼーションの原理と実践2012

    • Author(s)
      遠藤大輔, 小路武彦
    • Journal Title

      組織細胞化学 2012

      Pages: 59-72

    • Related Report
      2013 Final Research Report
  • [Journal Article] Paternal uniparental disomy 14 and related disorders: placental gene expression analyses and histological examinations.2012

    • Author(s)
      M. Kagam, K. Matsuoka, T. Nagai, M. Yamanaka, K. Kurosawa, N. Suzumori, Y. Sekita, M. Miyado, K. Matsubara, T. Fuke, F. Kato, M. Fukami, T. Ogata.
    • Journal Title

      Epigenetics

      Volume: 7 Issue: 10 Pages: 1142-1150

    • DOI

      10.4161/epi.21937

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype2012

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

      Eur J Hum Genet

      Volume: (accepted)(Epub ahead of print) Issue: 9 Pages: 928-932

    • DOI

      10.1038/ejhg.2012.26

    • Related Report
      2012 Annual Research Report 2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproductive technologies.2012

    • Author(s)
      Hiura H, Okae H, Miyauchi N, Sato F, Sato A , Van De Pette M, John R M, Kagami M, Nakai K, Soejima H, Ogata T, Arima T.
    • Journal Title

      Human Reproduction

      Volume: 27(8) Issue: 8 Pages: 2541-2548

    • DOI

      10.1093/humrep/des197

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Radiological evaluation of dysmorphic thorax of paternal uniparental disomy 142011

    • Author(s)
      Miyazaki O, Nishimura G, Kagami M, Ogata T
    • Journal Title

      Pediatric Radiology

      Volume: 41(8) Pages: 1013-1019

    • Related Report
      2013 Final Research Report
  • [Journal Article] Molecular characterization of two isoforms of ZFAND3 cDNA from the Japanese quail and the leopard gecko, and different expression patterns between testis and ovary2011

    • Author(s)
      Otake S, Endo D, Park MK
    • Journal Title

      Gene

      Volume: 488(1-2) Pages: 23-34

    • Related Report
      2013 Final Research Report
  • [Journal Article] 胎児死亡と胎盤病理 12.双胎妊娠2011

    • Author(s)
      松岡健太郎
    • Journal Title

      産科と婦人科

      Volume: 78 (6) Pages: 733-739

    • Related Report
      2013 Final Research Report
  • [Journal Article] Radiological evaluation of dysmorphic thorax of paternal uniparental disomy 142011

    • Author(s)
      Miyazaki O, Nishimura G, Kagami M, et al
    • Journal Title

      Pediatric Radiology

      Volume: 41 Pages: 1013-1019

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 14番染色体インプリンティング遺伝子群の調節において、IG-DMRとMEG3-DMRは異なった役割をはたす2010

    • Author(s)
      鏡雅代など
    • Journal Title

      ホルモンと臨床

      Volume: 58 Pages: 1019-1026

    • Related Report
      2011 Annual Research Report
  • [Presentation] インプリンティング異常症2014

    • Author(s)
      鏡雅代
    • Organizer
      第28回北陸小児内分泌学会
    • Place of Presentation
      石川
    • Related Report
      2013 Final Research Report
  • [Presentation] Clarification of (epi)genetic mechanisms leading to UPD(14)pat and UPD(14)mat phenotypes2013

    • Author(s)
      Masayo Kagami
    • Organizer
      th Joint Meeting of Paediatric Endocrinology, Meeting Theme Symposium
    • Place of Presentation
      Milan, Italy
    • Related Report
      2013 Final Research Report
  • [Presentation] インプリンティング異常症2013

    • Author(s)
      鏡雅代
    • Organizer
      Forum on Growth Hormone Research 2013
    • Place of Presentation
      京都
    • Related Report
      2013 Final Research Report
  • [Presentation] インプリンティング異常症と生殖補助医療2013

    • Author(s)
      鏡雅代
    • Organizer
      第54回日本卵子学会 シンポジウム
    • Place of Presentation
      東京
    • Related Report
      2013 Final Research Report
  • [Presentation] 14 番染色体父親性ダイソミー症候群 : 遺伝学的病因,臨床像,治療2013

    • Author(s)
      鏡雅代 , 西村玄 , 黒澤健司 , 柴崎淳 , 左合治彦 , 深見真紀 , 緒方勤
    • Organizer
      第47回日本小児内分泌学会学術集会
    • Place of Presentation
      東京
    • Related Report
      2013 Final Research Report
  • [Presentation] 本邦における 14 番染色体母親性ダイソミーおよび類縁疾患に関する検討 : 遺伝学的原因および臨床像2013

    • Author(s)
      鏡雅代, 長崎啓祐, 依藤亨, 中村明枝, 沼倉周彦, 緒方勤, 深見真紀, 齋藤伸治
    • Organizer
      日本人類遺伝学会第58回大会
    • Place of Presentation
      仙台
    • Related Report
      2013 Final Research Report
  • [Presentation] マウス精巣における特異的 microRNA の発現細胞の同定と機能探索2013

    • Author(s)
      遠藤大輔 , 小路武彦
    • Organizer
      第118回日本解剖学会総会・全国学術集会
    • Place of Presentation
      香川
    • Related Report
      2013 Final Research Report
  • [Presentation] Clarification of (epi)genetic mechanisms leading to upd(14)pat and upd(14)mat phenotypes.2013

    • Author(s)
      Kagami M
    • Organizer
      9th Joint Meeting of Paediatric Endocrinology
    • Place of Presentation
      Milan, Italy
    • Related Report
      2013 Annual Research Report
    • Invited
  • [Presentation] Role of RTL1 in Human Placenta : Placental study in Affected Cases with Structural Abnormality of the Imprinted Region on Human Chromosome 142012

    • Author(s)
      Masayo Kagami, Kentaro Matsuoka, Keiko Matsubara, Tomoko Sato, Michiko Yamanaka, Nobuhiro Suzumori, Tsutomu Ogata
    • Organizer
      International Federation of Placenta Associations Meeting
    • Place of Presentation
      Hiroshima
    • Related Report
      2013 Final Research Report
  • [Presentation] 14 番染色体父親性ダイソミー症候群の遺伝学的病因別頻度の解明2012

    • Author(s)
      鏡雅代, 加藤芙弥子, 松原圭子, 佐藤智子, 西村玄, 緒方勤
    • Organizer
      第35回日本小児遺伝学会学術集会
    • Place of Presentation
      久留米
    • Related Report
      2013 Final Research Report
  • [Presentation] 14 番染色体父親性ダイソミー (UPD(14)pat) 症候群の病因別頻度の検討2012

    • Author(s)
      鏡雅代, 加藤芙弥子, 松原圭子, 佐藤智子, 緒方勤
    • Organizer
      第6回日本エピジェネティクス研究会学術集会
    • Place of Presentation
      東京
    • Related Report
      2013 Final Research Report
  • [Presentation] 14 番染色体母親性ダイソミーおよび類縁疾患に関する全国調査 : 遺伝学的頻度および臨床像2012

    • Author(s)
      鏡雅代, 長崎啓祐, 佐藤英利, 鹿島京子, 依藤亨, 中村明枝, 加藤光広, 沼倉周彦, 緒方勤, 深見真紀, 斉藤伸治
    • Organizer
      第46回日本小児内分泌学会
    • Place of Presentation
      大阪
    • Related Report
      2013 Final Research Report
  • [Presentation] 14 番染色体インプリンティング領域メチル化制御機構の解明 : MEG3-DMRエピ変異症例の解析から2012

    • Author(s)
      鏡雅代, 古庄知己, 中林一彦, 松岡健太郎, 松原圭子, 福家智子, 深見真紀, 緒方勤
    • Organizer
      第56回人類遺伝学会
    • Place of Presentation
      東京
    • Related Report
      2013 Final Research Report
  • [Presentation] Progression of VUE is represented with terminal villous inflammation of cytotoxic T cells and ascending inflammation of intravillous space progress to vasculopathy2012

    • Author(s)
      Kentaro Matsuoka, Yuki Ito, Haruhiko Sago, Atsuoko Nakazawa , Kenichiro Hata
    • Organizer
      International Federation of Placenta Associations Meeting
    • Place of Presentation
      Hiroshima
    • Related Report
      2013 Final Research Report
  • [Presentation] VUE におけるアポトーシス誘導と Hofbauer 細胞動態の免疫組織学的検討2012

    • Author(s)
      松岡健太郎, 伊藤由紀, 山田健二, 中野夏子, 大喜多肇, 中澤温子
    • Organizer
      第101回日本病理学会総会
    • Place of Presentation
      札幌
    • Related Report
      2013 Final Research Report
  • [Presentation] Villitis of unknown etiology における Hofbauer 細胞の役割についての検討2012

    • Author(s)
      松岡健太郎, 伊藤由紀, 左合治彦, 秦健一郎, 大喜多 肇, 中澤温
    • Organizer
      第31回日本小児病理研究会
    • Place of Presentation
      横浜
    • Related Report
      2013 Final Research Report
  • [Presentation] 肺動脈を用いた肺発育評価の試み2012

    • Author(s)
      松岡健太郎, 畑中政博 , 左合治彦, 中澤温子
    • Organizer
      第10回胎児治療学会
    • Place of Presentation
      仙台
    • Related Report
      2013 Final Research Report
  • [Presentation] Cellular localization of microRNAs in paraffin embedded sections by in situ hybridization with nonradioactive oligo-DNA probes2012

    • Author(s)
      Endo D, Song N, Koji T
    • Organizer
      14th International Congress of Histochemistry and Cytochemistry
    • Place of Presentation
      Kyoto, Japan
    • Related Report
      2013 Final Research Report
  • [Presentation] Role of RTL1 in Human Placenta: Placental study in Affected Cases with Structural Abnormality of the Imprinted Region on Human Chromosome 14.2012

    • Author(s)
      Masayo Kagami
    • Organizer
      International Federation of Placenta Associations Meeting
    • Place of Presentation
      Hiroshima
    • Related Report
      2012 Annual Research Report
  • [Presentation] 14番染色体父親性ダイソミー (upd(14)pat) 症候群の病因別頻度の検討2012

    • Author(s)
      鏡 雅代
    • Organizer
      第6回日本エピジェネティクス研究会学術集会
    • Place of Presentation
      東京
    • Related Report
      2012 Annual Research Report
  • [Presentation] 14番染色体母親性ダイソミーおよび類縁疾患に関する全国調査:遺伝学的頻度および臨床像2012

    • Author(s)
      鏡雅代
    • Organizer
      第46回日本小児内分泌学会
    • Place of Presentation
      大阪
    • Related Report
      2012 Annual Research Report
  • [Presentation] 14番染色体インプリンティング領域メチル化制御機構の解明:MEG3-DMRエピ変異症例の解析から2012

    • Author(s)
      鏡雅代
    • Organizer
      第56回人類遺伝学会
    • Place of Presentation
      東京
    • Related Report
      2012 Annual Research Report
  • [Presentation] 14番染色体父親性ダイソミー症候群:遺伝学的病因、臨床像、治療2011

    • Author(s)
      鏡雅代など
    • Organizer
      第56回日本人類遺伝学会学術集会
    • Place of Presentation
      幕張
    • Year and Date
      2011-11-12
    • Related Report
      2011 Annual Research Report
  • [Presentation] RTL1遺伝子の胎盤における機能の解明:胎盤発育不全、子宮内胎児発育遅延の原因解明をめざして2011

    • Author(s)
      鏡雅代など
    • Organizer
      第45回日本小児内分泌学会学術集会
    • Place of Presentation
      さいたま市
    • Year and Date
      2011-10-08
    • Related Report
      2011 Annual Research Report
  • [Presentation] 14番染色体父親性ダイソミー症候群の病因別頻度の解明2011

    • Author(s)
      鏡雅代など
    • Organizer
      第114回日本小児科学会
    • Place of Presentation
      東京
    • Year and Date
      2011-08-12
    • Related Report
      2011 Annual Research Report
  • [Presentation] 14番染色体インプリンティング遺伝子の胎盤における機能と発現調節メカニズム2011

    • Author(s)
      鏡雅代など
    • Organizer
      第34回日本小児遺伝学会
    • Place of Presentation
      横浜
    • Year and Date
      2011-08-11
    • Related Report
      2011 Annual Research Report
  • [Presentation] 14番染色体インプリンティング遺伝子の胎盤における機能と発現調節メカニズム2011

    • Author(s)
      鏡雅代など
    • Organizer
      第5回エピジェネティクス研究会
    • Place of Presentation
      熊本
    • Year and Date
      2011-05-19
    • Related Report
      2011 Annual Research Report
  • [Presentation] RTL1 遺伝子の胎盤における機能の解明 : 胎盤発育不全, 子宮内胎児発育遅延の原因解明をめざして2011

    • Author(s)
      鏡雅代, 松岡健太郎, 加藤芙弥子, 宮戸真美, 松原圭子, 深見真紀, 山中美智子, 鈴森伸宏, 永井敏郎, 緒方勤
    • Organizer
      第45回日本小児内分泌学会学術集会
    • Place of Presentation
      埼玉
    • Related Report
      2013 Final Research Report
  • [Presentation] 14番染色体父親性ダイソミー症候群 : 遺伝学的病因, 臨床像, 治療2011

    • Author(s)
      鏡雅代, 黒澤健司, 宮嵜治, 柴崎淳, 左合治彦, 西村玄, 深見真紀, 緒方勤
    • Organizer
      第56回日本人類遺伝学会学術集会
    • Place of Presentation
      幕張
    • Related Report
      2013 Final Research Report
  • [Presentation] 14 番染色体インプリンティング遺伝子の胎盤における機能と発現調節メカニズムの解明2011

    • Author(s)
      鏡雅代, 松岡健太郎, 加藤芙弥子, 宮戸真美, 山中美智子, 鈴森伸宏, 松原圭子, 佐藤智子, 永井敏郎, 緒方勤
    • Organizer
      第5回エピジェネティクス研究会
    • Place of Presentation
      熊本
    • Related Report
      2013 Final Research Report
  • [Presentation] 14 番染色体インプリンティング遺伝子の胎盤における機能と発現調節メカニズムの解明2011

    • Author(s)
      鏡雅代, 松岡健太郎, 加藤芙弥子, 宮戸真美, 山中美智子, 鈴森伸宏, 松原圭子, 佐藤智子, 永井敏郎, 緒方勤
    • Organizer
      第34回日本小児遺伝学会
    • Place of Presentation
      横浜
    • Related Report
      2013 Final Research Report
  • [Presentation] 14 番染色体父親性ダイソミー症候群の病因別頻度の解明2011

    • Author(s)
      鏡雅代, 加藤芙弥子, 松原圭子, 佐藤智子, 緒方勤
    • Organizer
      第114回日本小児科学会
    • Place of Presentation
      東京
    • Related Report
      2013 Final Research Report
  • [Presentation] Fetal vessels dilatation contribute placentomegaly of uniparental disomy chromosome 142011

    • Author(s)
      Kentaro Matsuoka, Masayo Kagami, Tsutomu Ogata
    • Organizer
      International Federation of Placenta Associations Meeting
    • Place of Presentation
      Norway
    • Related Report
      2013 Final Research Report
  • [Presentation] 胎盤絨毛間質線維化の病態病理学的検討2011

    • Author(s)
      松岡健太郎, トーニエス麻弥, 伊藤由紀, 大喜多肇, 左合治彦, 中澤温子
    • Organizer
      第19回日本胎盤学会
    • Place of Presentation
      東京
    • Related Report
      2013 Final Research Report
  • [Presentation] 潜在性絨毛膜羊膜炎の臨床病理学的検討2011

    • Author(s)
      伊藤由紀, 松岡健太郎, トーニエス麻弥, 左合治彦, 中澤温子, 田中忠夫
    • Organizer
      第19回日本胎盤学会
    • Place of Presentation
      東京
    • Related Report
      2013 Final Research Report
  • [Presentation] 肺形成不全疾患群における肺形成の病理学的検討2011

    • Author(s)
      松岡健太郎, 山田健二, 佐藤泰樹, 林聡, 左合治彦, 中澤温子
    • Organizer
      第9回胎児治療学会
    • Place of Presentation
      福岡
    • Related Report
      2013 Final Research Report
  • [Presentation] インプリンティング異常症と生殖補助医療

    • Author(s)
      鏡雅代
    • Organizer
      第54回日本卵子学会
    • Place of Presentation
      東京
    • Related Report
      2013 Annual Research Report
    • Invited
  • [Presentation] 本邦における14番染色体母親性ダイソミーおよび類縁疾患に関する検討:遺伝学的原因および臨床像.

    • Author(s)
      鏡雅代, 長崎啓祐, 依藤亨, 中村明枝, 沼倉周彦, 緒方勤, 深見真紀, 斉藤伸治
    • Organizer
      第17回小児分子内分泌研究会
    • Place of Presentation
      北海道
    • Related Report
      2013 Annual Research Report
  • [Presentation] 14番染色体父親性ダイソミー症候群:遺伝学的病因、臨床像、治療.

    • Author(s)
      鏡雅代, 西村玄, 黒澤健司, 柴崎淳, 左合治彦, 深見真紀, 緒方勤
    • Organizer
      第47回日本小児内分泌学会学術集会
    • Place of Presentation
      東京
    • Related Report
      2013 Annual Research Report
  • [Presentation] インプリンティング異常症.

    • Author(s)
      鏡雅代
    • Organizer
      Forum on Growth Hormone Research 2013
    • Place of Presentation
      京都
    • Related Report
      2013 Annual Research Report
    • Invited
  • [Presentation] 本邦における14番染色体母親性ダイソミーおよび類縁疾患に関する検討:遺伝学的原因および臨床像

    • Author(s)
      鏡雅代, 長崎啓祐, 依藤亨, 中村明枝, 沼倉周彦, 緒方勤, 深見真紀, 齋藤伸治
    • Organizer
      日本人類遺伝学会第58回大会
    • Place of Presentation
      仙台
    • Related Report
      2013 Annual Research Report
  • [Presentation] インプリンティング異常症

    • Author(s)
      鏡雅代
    • Organizer
      第28回北陸小児内分泌学会
    • Place of Presentation
      金沢
    • Related Report
      2013 Annual Research Report
    • Invited
  • [Presentation] 14番染色体父親性ダイソミー症候群の遺伝学的病因別頻度の解明

    • Author(s)
      鏡 雅代
    • Organizer
      第35回日本小児遺伝学会学術集会
    • Place of Presentation
      久留米
    • Related Report
      2012 Annual Research Report
  • [Book] エピジェネティクスと病気, インプリント異常症 遺伝子医学 MOOK252013

    • Author(s)
      鏡雅代
    • Publisher
      メディカルドゥ社
    • Related Report
      2013 Final Research Report
  • [Book] 小児・周産期病理アトラス2012

    • Author(s)
      松岡健太郎
    • Publisher
      診断と治療社
    • Related Report
      2013 Final Research Report
  • [Book] 今日の治療指針、第15版、2012

    • Author(s)
      鏡雅代.
    • Publisher
      医学書院
    • Related Report
      2012 Annual Research Report
  • [Book] 性染色体異常症.今日の治療指針、第15版2012

    • Author(s)
      鏡雅代
    • Total Pages
      1
    • Publisher
      医学書院
    • Related Report
      2011 Annual Research Report
  • [Remarks] 14番染色体父親性・母親性ダイソミーおよび類縁疾患の実態把握と診断・治療指針作成に関する研究

    • URL

      http://www.nch.go.jp/endocrinology/UPD14/

    • Related Report
      2013 Final Research Report
  • [Remarks] 14番染色体父親性・母親性ダイソミーおよび類縁疾患の診断・治療指針作成に関する研究班

    • URL

      http://www.nch.go.jp/endocrinology/upd14/index.html

    • Related Report
      2013 Annual Research Report
  • [Remarks] 国立成育医療研究センター研究所分子内分泌研究部

    • URL

      http://nch.go.jp/endocrinology/

    • Related Report
      2012 Annual Research Report
  • [Remarks] 14番染色体父親性・母親性ダイソミーおよび類縁疾患の診断基準・治療指針に関連する研究班

    • URL

      http://www.nch.go.jp/endocrinology/upd14/index.html

    • Related Report
      2012 Annual Research Report
  • [Remarks]

    • URL

      http://111.89.135.117/endocrinology/index.htm

    • Related Report
      2011 Annual Research Report

URL: 

Published: 2011-04-06   Modified: 2019-07-29  

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