• Search Research Projects
  • Search Researchers
  • How to Use
  1. Back to previous page

Identification of the germline-derived GNAS gain-of-function mutations and clarification of the novel mechanism leading to GNAS loss-of-function

Research Project

Project/Area Number 17H04204
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Endocrinology
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  国立研究開発法人国立成育医療研究センター, 分子内分泌研究部, 部長 (40265872)
Project Period (FY) 2017-04-01 – 2020-03-31
Project Status Granted (Fiscal Year 2019)
Budget Amount *help
¥16,770,000 (Direct Cost: ¥12,900,000、Indirect Cost: ¥3,870,000)
Fiscal Year 2019: ¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2018: ¥5,720,000 (Direct Cost: ¥4,400,000、Indirect Cost: ¥1,320,000)
Fiscal Year 2017: ¥6,240,000 (Direct Cost: ¥4,800,000、Indirect Cost: ¥1,440,000)
KeywordsGNAS / 抗利尿不適合性腎症候群 / 機能亢進 / 偽性副甲状腺機能低下症 / 機能低下
Outline of Annual Research Achievements

GNASは、Gタンパク質共役型受容体の細胞内シグナル伝達を介在し、腎集合管を含む多くの組織では両親性発現を示すが、腎近位尿細管などではA/B-DMRの制御により母性発現を示す。
本研究の目的は、(1)われわれが常染色体優性の抗利尿不適合性腎症候群を呈する2家系で同定した新規GNAS変異が、世界初の機能亢進型生殖細胞変異であることを示すこと(研究項目1)、(2) われわれが常染色体優性の偽性副甲状腺機能低下症を示す2家系で同定した過去に報告の無いGNAS-STX16領域のゲノム構造異常やレトロトランスポゾン挿入が、A/B-DMR単独のエピ変異を発症する機序を解明すること(研究項目2)である。
(研究項目1)抗利尿不適合性腎症候群発症に直結するAVPR2を用いたルシフェラーゼ解析を終了し、p.F68_G70delとp.M255V変異が軽度機能亢進作用を有することを見出した。また、p.F68_G70delを導入したモデルマウスが、患者と同様、腎からの自由水排泄障害を呈することを見出した。さらに、p.M255Vを導入したモデルマウスが在胎時では生存するものの生後間もなく死亡することを明らかとした。これは、ルシフェラーゼ解析でp.M255Vがp.F68_G70delよりやや活性が強く、生殖細胞由来では胎生致死であるMcCune-Albright症候群を発症するp.R201H/Cより弱いことに一致する。
(研究項目2)新規GNAS機能低下発症機序の解明では、GNAS遺伝子内の50-bp重複が原因であることを明らかとた。SVA型レトロトランスポゾン挿入家系では、これがNEP55にexonizationされることを示すために皮膚線維芽細胞を樹立しmRNAを解析した。患者においてA/B遺伝子の高発現が確認されたが、NEP55の発現が軽微であるため、exonizationの証明には至っていない。

Current Status of Research Progress
Current Status of Research Progress

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

Reason

[研究項目1]世界初の機能亢進型GNAS生殖細胞変異の実証。われわれは、上記のように、抗利尿不適合性腎症候群を有する家系1と2で同定しえたp.F68_G70delとp.M255V変異が経度機能亢進作用を有することを、in vitro機能解析、モデルmouse解析、さらに蛋白構造解析においても証明した。これにより、機能亢進型GNAS生殖細胞変異の存在を実証し、新規遺伝性疾患を樹立した。さらに、家系の表現型から、多くのG蛋白受容体の中で、AVPR2がGNAS機能亢進に最も感受性が高いことを明らかとした。これらの成果は、世界初のものであり、GNAS遺伝子を介する疾患発症機序の解明や治療法の開発に貢献すると期待される。本成果は論文として発表された。
[研究項目2]新規GNAS機能低下発症機序の解明。われわれは、GNAS遺伝子内の50-bp重複が偽性副甲状腺機能低下症を発症することを世界で初めて明らかとした。これは、われわれによる2016年度におけるGNAS-STX16領域のゲノム2.5回重複の同定に続き、新しい偽性副甲状腺機能低下症発症機序の解明となる成果である。本成果は論文として発表された。また、GNAS挿入されたSVA型レトロトランスポゾンがA/B遺伝子の発現亢進を伴うことを見出したことは、確かに、このレトロトランスポゾン挿入が病因であることを示す成果である。

Strategy for Future Research Activity

令和元年では、以下の研究を行う。
[研究項目1]世界初の機能亢進型GNAS生殖細胞変異。家系において経度甲状腺機能亢進が認められたことから、ルシフェラ-ゼ解析をTSHRを用いて行い、AVPR2の結果を比較する。これにより機能亢進変異効果の受容体特異性を明らかとする。また、p.M255Vを導入したモデルマウスが在胎時では生存するものの生後間もなく死亡する原因を、このマウスの形態解析・遺伝子発現解析から明らかとする。これは、より強い変異を有するMcCune-Albright症候群患者の病因解明や治療法開発に貢献すると期待される。
[研究項目2]新規GNAS機能低下発症機序の解明。これに関して残された課題は、GNAS-STX16領域に挿入されたSVA型レトロトランスポゾンがNESP55にexonizationされることの証明である。このために、以下の2つを開始している。(1) A/BやNESP55はiPS細胞において高発現を示すことが報告されている。そこで、われわれはすでに患者皮膚線維芽細胞からiPS細胞の樹立を開始しており、これを用いてexonizationを検討する。(2) dCas9-VP64を用いた転写活性化人工的な転写活性化装置を用いてNESP55を強制的に発現させる実験を開始している。これを用いてexonizationを検討する。

Report

(2 results)
  • 2018 Annual Research Report
  • 2017 Annual Research Report

Research Products

(53 results)

All 2019 2018 2017

All Journal Article Presentation

  • [Journal Article] Germline-derived gain-of-function variants of Gsα-coding GNAS gene identified in nephrogenic syndrome of inappropriate antidiuresis.2019

    • Author(s)
      Miyado Mami、Fukami Maki、Takada Shuji、Terao Miho、Nakabayashi Kazuhiko、Hata Kenichiro、Matsubara Yoichi、Tanaka Yoko、Sasaki Goro、Nagasaki Keisuke、Shiina Masaaki、Ogata Kazuhiro、Masunaga Youhei、Saitsu Hirotomo、Ogata Tsutomu
    • Journal Title

      J Am Soc Nephrol.

      Volume: 30 Pages: 877-889

    • DOI

      10.1681/asn.2018121268

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Temple syndrome in a patient with variably methylated CpGs at the primary MEG3/DLK1:IG-DMR and severely hypomethylated CpGs at the secondary MEG3:TSS-DMR.2019

    • Author(s)
      Kagami M, Yanagisawa A, Ota M, Matsuoka K, Nakamura A, Matsubara K, Nakabayashi K, Takada S, Fukami M, Ogata T*
    • Journal Title

      Clin Epigenetics

      Volume: 11 Pages: 42-42

    • DOI

      10.1186/s13148-019-0640-2

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Exploring the unique function of imprinting control centers in the PWS/AS-responsible region: finding from array-based methylation analysis in cases with variously sized microdeletions.2019

    • Author(s)
      Matsubara K, Itoh M, Shimizu K, Saito S, Enomoto K, Nakabayashi K, Hata K, Kurosawa K, Ogata T, Fukami M, Kagami M.
    • Journal Title

      Clin Epigenetics

      Volume: 11 Pages: 36-36

    • DOI

      10.1186/s13148-019-0633-1

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development.2019

    • Author(s)
      Hamanaka K、Takata A、Uchiyama Y、Miyatake S、Miyake N、Mitsuhashi S、Iwama K、Fujita A、Imagawa E、Alkanaq AN、Koshimizu E、Azuma Y、Nakashima M、Mizuguchi T、Saitsu H、Wada Y、Minami S、Katoh-Fukui Y、Masunaga Y、Fukami M、Hasegawa T、Ogata T、Matsumoto N
    • Journal Title

      Hum Mol Genet

      Volume: 印刷中

    • DOI

      10.1093/hmg/ddz066

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Association of four imprinting disorders and ART2019

    • Author(s)
      Hattori H, Hiura H, Kitamura A, Miyauchi N, Kobayashi N, Takahashi S, Okae H, Kyono K, Kagami M, Ogata T, Arima T*
    • Journal Title

      Clin Epigenetics

      Volume: 11 Pages: 21-21

    • DOI

      10.1186/s13148-019-0623-3

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Coexistence of a CAV3 mutation and a DMD deletion in a family with complex muscular diseases.2019

    • Author(s)
      Hiraide T, Ogata T, Watanabe S, Nakashima M, Fukuda T, Saitsu H*
    • Journal Title

      Brain Dev

      Volume: 41 Pages: 474-479

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures.2019

    • Author(s)
      Nakashima Mitsuko、Tohyama Jun、Nakagawa Eiji、Watanabe Yoshihiro、Siew Ch’ng Gaik、Kwong Chieng Siik、Yamoto Kaori、Hiraide Takuya、Fukuda Tokiko、Kaname Tadashi、Nakabayashi Kazuhiko、Hata Kenichiro、Ogata Tsutomu、Saitsu Hirotomo、Matsumoto Naomichi
    • Journal Title

      J Hum Genet

      Volume: 64 Pages: 313-322

    • DOI

      10.1038/s10038-018-0559-z

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed
  • [Journal Article] (Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty2019

    • Author(s)
      Suzuki E, Shima H, Kagami M, Soneda S, Tanaka T, Yatsuga S, Nishioka J, Oto Y, Kamiya T, Naiki Y, Ogata T, Fujisawa Y, Nakamura A, Kawashima S, Morikawa S, Horikawa R, Sano S, Fukami M
    • Journal Title

      Hum Genome Var

      Volume: - Pages: 7-7

    • DOI

      10.1038/s41439-019-0039-9

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Gain-of-Function Mutations in G-protein Coupled Receptor Genes Associated with Human Endocrine Disorders.2018

    • Author(s)
      Fukami M, Suzuki E, Igarashi M, Miyado M and Ogata T.
    • Journal Title

      Clin Endocrinol

      Volume: 88 Pages: 351-359

    • DOI

      10.1111/cen.13496

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] De Novo 50-bp GNAS (Gs-alpha) Intragenic Duplication in a Patient with Pseudohypoparathyroidism Type 1a.2018

    • Author(s)
      Suzuki Erina、Bo Ryosuke、Sue Kaori、Awano Hiroyuki、Ogata Tsutomu、Narumi Satoshi、Kagami Masayo、Sano Shinichiro、Fukami Maki
    • Journal Title

      Cytogenet Genome Res

      Volume: 153 Pages: 125-130

    • DOI

      10.1159/000485644

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene.2018

    • Author(s)
      Ono Hiroyuki、Saitsu Hirotomo、Horikawa Reiko、Nakashima Shinichi、Ohkubo Yumiko、Yanagi Kumiko、Nakabayashi Kazuhiko、Fukami Maki、Fujisawa Yasuko、Ogata Tsutomu
    • Journal Title

      Sci Rep

      Volume: 8 Pages: 177-184

    • DOI

      10.1038/s41598-018-20691-9

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] GATA4 mutations are uncommon in patients with 46,XY disorders of sex development without heart anomaly.2018

    • Author(s)
      Igarashi M, Mizuno K, Kon M, Narumi S, Kojima Y, Hayashi Y, Ogata T, Fukami M*
    • Journal Title

      Asian J Androl

      Volume: 20 Pages: 629-631

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed
  • [Journal Article] GATA4 variant identified by whole exome sequencing in a Japanese family with atrial septal defect: implications for male sex development.2018

    • Author(s)
      Shimizu D, Iwashima S, Sato K, Hayano S, Fukami M, Saitsu H, Ogata T
    • Journal Title

      Clin Case Rep

      Volume: 6 Pages: 2229-2233

    • DOI

      10.1002/ccr3.1851

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown etiology.2018

    • Author(s)
      Inoue Takanobu、Yagasaki Hideaki、Nishioka Junko、Nakamura Akie、Matsubara Keiko、Narumi Satoshi、Nakabayashi Kazuhiko、Yamazawa Kazuki、Fuke Tomoko、Oka Akira、Ogata Tsutomu、Fukami Maki、Kagami Masayo
    • Journal Title

      J Med Genet

      Volume: 印刷中

    • DOI

      10.1136/jmedgenet-2018-105463

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 11-oxygenated C19 steroids as circulating androgens in women with polycystic ovary syndrome2018

    • Author(s)
      Yoshida T, Matsuzaki T, Miyado M, Saito K, Iwasa T, Matsubara Y, Ogata T, Irahara M, Fukami M.
    • Journal Title

      Endocr J

      Volume: 65 Issue: 10 Pages: 979-990

    • DOI

      10.1507/endocrj.ej18-0212

      10.1507/endocrj.EJ18-0212

    • NAID

      130007501323

    • ISSN
      0918-8959, 1348-4540
    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Congenital limb deficiency in Japan: A cross-sectional nationwide survey on its epidemiology2018

    • Author(s)
      Mano Hiroshi、Fujiwara Sayaka、Takamura Kazuyuki、Kitoh Hiroshi、Takayama Shinichiro、Ogata Tsutomu、Hashimoto Shuji、Haga Nobuhiko
    • Journal Title

      BMC Musculoskelet Disord

      Volume: 19 Pages: 262-262

    • DOI

      10.1186/s12891-018-2195-3

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations.2018

    • Author(s)
      Kurata Kentaro、Hosono Katsuhiro、Hikoya Akiko、Kato Akihiko、Saitsu Hirotomo、Minoshima Shinsei、Ogata Tsutomu、Hotta Yoshihiro
    • Journal Title

      Jpn J Ophthalmol A

      Volume: 62 Pages: 458-466

    • DOI

      10.1007/s10384-018-0591-8

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Characterization of parent-of-origin methylation using the Illumina Infinium MethylationEPIC array platform.2018

    • Author(s)
      Hernandez Mora Jose R、Tayama Chiharu、S?nchez-Delgado Marta、Monteagudo-S?nchez Ana、Hata Kenichiro、Ogata Tsutomu、Medrano Jose、Poo-Llanillo Maria E、Sim?n Carlos、Moran Sebastian、Esteller Manel、Tenorio Jair、Lapunzina Pablo、Kagami Masayo、Monk David、Nakabayashi Kazuhiko
    • Journal Title

      Epigenomics

      Volume: 10 Pages: 941-954

    • DOI

      10.2217/epi-2017-0172

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Maternal uniparental disomy for chromosome 20: physical and endocrinological characteristics of five patients.2018

    • Author(s)
      Kawashima Sayaka、Nakamura Akie、Inoue Takanobu、Matsubara Keiko、Horikawa Reiko、Wakui Keiko、Takano Kyoko、Fukushima Yoshimitsu、Tatematsu Toshi、Mizuno Seiji、Tsubaki Junko、Kure Shigeo、Matsubara Yoichi、Ogata Tsutomu、Fukami Maki、Kagami Masayo
    • Journal Title

      J Clin Endocrinol Metab

      Volume: 103 Pages: 2083-2088

    • DOI

      10.1210/jc.2017-02780

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] STX2 is a causative gene for nonobstructive azoospermia2018

    • Author(s)
      Nakamura S, Kobori Y, Ueda Y, Tanaka Y, Ishikawa H, Yoshida A, Katsumi M, Saito K, Nakamura A, Ogata T, Okada H, Nakai H, Miyado M and Fukami M.
    • Journal Title

      Hum Mutat

      Volume: 印刷中 Pages: 0-0

    • DOI

      10.1002/humu.23423

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A case of paternal uniparental isodisomy for chromosome 7 associated with overgrowth.2018

    • Author(s)
      Nakamura Akie、Muroya Koji、Ogata-Kawata Hiroko、Nakabayashi Kazuhiko、Matsubara Keiko、Ogata Tsutomu、Kurosawa Kenji、Fukami Maki、Kagami Masayo
    • Journal Title

      Journal of Medical Genetics

      Volume: 55 Pages: 2017-104986

    • DOI

      10.1136/jmedgenet-2017-104986

    • Related Report
      2018 Annual Research Report 2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature.2018

    • Author(s)
      Montalbano A, Juergensen L, Fukami M, Thiel, CT, Hauer NH, Roeth R, Weiss B, Naiki Y, Ogata T, Hassel D, Rappold GA*
    • Journal Title

      Eur J Hum Genet

      Volume: 26 Pages: 1113-1120

    • DOI

      10.1038/s41431-018-0148-9

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed
  • [Journal Article] De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism.2018

    • Author(s)
      Hiraide Takuya、Nakashima Mitsuko、Yamoto Kaori、Fukuda Tokiko、Kato Mitsuhiro、Ikeda Hiroko、Sugie Yoko、Aoto Kazushi、Kaname Tadashi、Nakabayashi Kazuhiko、Ogata Tsutomu、Matsumoto Naomichi、Saitsu Hirotomo
    • Journal Title

      Hum Genet

      Volume: 137 Pages: 95-104

    • DOI

      10.1007/s00439-017-1863-y

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Longitudinal Serum and Urine Steroid Metabolite Profiling in a 46,XY Infant with Prenatally Identified POR Deficiency.2018

    • Author(s)
      Ono H, Numakura C, Homma K, Hasegwa T, Tsutsumi S, Kato F, Fujisawa Y, Fukami M, Ogata T*
    • Journal Title

      Steroid Biochem Mol Biol

      Volume: 178 Pages: 177-184

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed
  • [Journal Article] The Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes. Protein-Altering Variants of PTPN2 in Childhood-onset Type 1A Diabetes.2018

    • Author(s)
      Okuno M.、Ayabe T.、Yokota I.、Musha I.、Shiga K.、Kikuchi T.、Kikuchi N.、Ohtake A.、Nakamura A.、Nakabayashi K.、Okamura K.、Momozawa Y.、Kubo M.、Suzuki J.、Urakami T.、Kawamura T.、Amemiya S.、Ogata T.、Sugihara S.、Fukami M.、the Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes
    • Journal Title

      Diabet Med

      Volume: 35 Pages: 376-380

    • DOI

      10.1111/dme.13566

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations.2018

    • Author(s)
      Shima H, MD*, Koehler K*, Nomura Y, Sugimoto K, Satoh A, Ogata T, Fukami M, Schuelke M, Huebner A, Narum S
    • Journal Title

      J Med Genet

      Volume: 55 Pages: 81-85

    • DOI

      10.1136/jmedgenet-2017-105020

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed
  • [Journal Article] FGFR1 Disruption Identified by Whole Genome Sequencing in a Male With a Complex Chromosomal Rearrangement and Hypogonadotropic Hypogonadism.2018

    • Author(s)
      Yamoto Kaori、Okamoto Shingo、Fujisawa Yasuko、Fukami Maki、Saitsu Hirotomo、Ogata Tsutomu
    • Journal Title

      Am J Med Genet A

      Volume: 176 Pages: 139-143

    • DOI

      10.1002/ajmg.a.38535

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Expression of Xenobiotic Biomarkers CYP1 Family in Preputial Tissue of Patients with Hypospadias and Phimosis and Its Association with DNA Methylation Level of SRD5A2 Minimal Promoter.2018

    • Author(s)
      Ohsako S, Aiba T, Miyado M, Fukami M, Ogata T, Hayashi Y, Mizuno K and Kojima Y.
    • Journal Title

      Arch Environ Contam Toxicol

      Volume: 74 Pages: 240-247

    • DOI

      10.1007/s00244-017-0466-x

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin-requiring antibody-negative type 1 diabetes.2018

    • Author(s)
      Ushijima K, Fukami M, Ayabe T, Narumi S, Okuno M, Nakamura A, Takahashi T, Ihara K, Ohkubo K, Tachikawa E, Nakayama S, Arai J, Kikuchi N, Kikuchi T, Kawamura T, Urakami T, Hata K, Nakabayashi K, Matsubara Y, Amemiya S, Ogata T, Yokota I, Sugihara S
    • Journal Title

      Pediatr Diabetes

      Volume: 19 Pages: 243-250

    • DOI

      10.1111/pedi.12544

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients.2017

    • Author(s)
      Kagami Masayo、Nagasaki Keisuke、Kosaki Rika、Horikawa Reiko、Naiki Yasuhiro、Saitoh Shinji、Tajima Toshihiro、Yorifuji Tohru、Numakura Chikahiko、Mizuno Seiji、Nakamura Akie、Matsubara Keiko、Fukami Maki、Ogata Tsutomu
    • Journal Title

      Genet Med.

      Volume: 19 Pages: 1356-1366

    • DOI

      10.1038/gim.2017.53

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects2017

    • Author(s)
      Inoue T, Nakamura A, Fuke T, Yamazawa K, Sano S, Matsubara K, Mizuno S, Matsukura Y, Harashima C, Hasegawa T, Nakajima H, Tsumura K, Kizaki Z, Oka A, Ogata T, Fukami M, Kagami M.
    • Journal Title

      Clin Epigenetics.

      Volume: 9 Pages: 52-52

    • DOI

      10.1186/s13148-017-0350-6

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] De Novo IGF2 mutation on the paternal allele in a patient with silver-russell syndrome and ectrodactyly.2017

    • Author(s)
      Yamoto Kaori、Saitsu Hirotomo、Nakagawa Norio、Nakajima Hisakazu、Hasegawa Tatsuji、Fujisawa Yasuko、Kagami Masayo、Fukami Maki、Ogata Tsutomu
    • Journal Title

      Hum Mutat.

      Volume: 38 Pages: 953-958

    • DOI

      10.1002/humu.23253

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Mosaic upd(14)pat in a patient with mild features of Kagami-Ogata syndrome.2017

    • Author(s)
      Haug Marte G.、Brendehaug Atle、Houge Gunnar、Kagami Masayo、Ogata Tsutomu
    • Journal Title

      Clin Case Rep.

      Volume: 6 Pages: 91-95

    • DOI

      10.1002/ccr3.1300

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] (Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I.2017

    • Author(s)
      Sano Shinichiro、Nakamura Akie、Matsubara Keiko、Nagasaki Keisuke、Fukami Maki、Kagami Masayo、Ogata Tsutomu
    • Journal Title

      J Endocr Soc.

      Volume: 2 Pages: 9-23

    • DOI

      10.1210/js.2017-00293

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Diagnosis and management of Silver-Russell syndrome: First international consensus statement.2017

    • Author(s)
      Wakeling Emma L、Brioude Frdric、Lokulo-Sodipe Oluwakemi、O'Connell Susan M.、Salem Jennifer、Bliek Jet、Canton Ana P. M.、Chrzanowska Krystyna H.、Davies Justin H.、Dias Renuka P.、Tsutomu Ogata
    • Journal Title

      Nat Rev Endocrinol.

      Volume: 13 Pages: 105-124

    • DOI

      10.1038/nrendo.2016.138

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Presentation] IGF2: a paternally expressed gene essential for pre- and post-natal growth and placental development. In: Symposium Novel gene discoveries in Mendelian diseases.2018

    • Author(s)
      Ogata T
    • Organizer
      2018 International Joint Conference on Genetics & Medicine (Genetic Society of Korea, Korean Society of Medical Genetics & Genomics, and East-Asian Union of Human Genetics Society).
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Kagami-Ogata症候群:発症機序解明と臨床診断基準・遺伝学的診断法の確立2018

    • Author(s)
      緒方勤
    • Organizer
      日本人類遺伝学会第63回大会
    • Related Report
      2018 Annual Research Report
    • Invited
  • [Presentation] ARTとインプリンティング疾患発症の関連について2018

    • Author(s)
      緒方勤
    • Organizer
      第63回日本生殖医学会学術講演会・総会
    • Related Report
      2018 Annual Research Report
    • Invited
  • [Presentation] 性スペクトラム2018

    • Author(s)
      緒方勤
    • Organizer
      第28回日本内分泌学会臨床内分泌代謝アップデート
    • Related Report
      2018 Annual Research Report
    • Invited
  • [Presentation] 小児の遺伝性間脳下垂体疾患2018

    • Author(s)
      緒方勤
    • Organizer
      第28回日本間脳下垂体腫瘍学会
    • Related Report
      2018 Annual Research Report
    • Invited
  • [Presentation] 20番染色体母性片親性ダイソミー 5 例の臨床像の検討2018

    • Author(s)
      川嶋 明香、中村 明枝、井上 毅信、堀川 玲子、涌井 敬子、髙野 享子、水野 誠司、椿 淳子、緒方 勤、深見 真紀、鏡 雅代
    • Organizer
      第40回日本小児遺伝学会学術集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] PHP-I 型の 69 例における(エピ)遺伝子型-表現型解析2018

    • Author(s)
      佐野伸一朗,中村 明枝,松原 圭子,加藤 芙弥子,深見 真紀,鏡 雅代,緒方  勤
    • Organizer
      第40回日本小児遺伝学会学術集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] Temple症候群32症例における遺伝子診断に基づいた臨床像の検討2017

    • Author(s)
      鏡 雅代、長崎啓祐、小崎里華、齋藤伸治、中村明枝、松原圭子、深見真紀、緒方 勤
    • Organizer
      第120回日本小児科学会学術集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 偽性副甲状腺機能低下症の(epi)genotype-phenotype correlation2017

    • Author(s)
      佐野 伸一朗、中村 明枝、松原 圭子、長崎 啓介、深見 真紀、緒方 勤、鏡 雅代
    • Organizer
      第90回日本内分泌学会学術総会
    • Related Report
      2017 Annual Research Report
  • [Presentation] ヒトの成長と成熟:Auxologyとインプリンティングの観点から2017

    • Author(s)
      緒方 勤
    • Organizer
      第90回日本内分泌学会学術総会
    • Related Report
      2017 Annual Research Report
  • [Presentation] Beckwith-Wiedemann syndromeとPHP-Ibの臨床像を呈したMultilocus imprinting disturbanceの女児例2017

    • Author(s)
      佐野 伸一朗、長崎 啓介、松原 圭子、中村 明枝、深見 真紀、緒方 勤
    • Organizer
      第90回日本内分泌学会学術総会
    • Related Report
      2017 Annual Research Report
  • [Presentation] DE NOVO IGF2 MUTATION ON THE PATERNAL ALLELE IN A PATIENT WITH SILVER-RUSSELL SYNDROME AND ECTRODACTYLY2017

    • Author(s)
      Kaori Yamoto, Hirotomo Saitsu, Norio Nakagawa, Hisakazu Nakajima, Tatsuji Hasegawa, Yasuko Fujisawa, Masayo Kagami, Maki Fukami, Tsutomu Ogata
    • Organizer
      The 10th International Meeting of Pediatric Endocrinology
    • Related Report
      2017 Annual Research Report
  • [Presentation] 患者生体試料を用いた14q32.2インプリンティング領域のメチローム・トランスクリプトーム解析2017

    • Author(s)
      鏡 雅代、松原 圭子、早野 崇英、細道 一善、高田 修治、井ノ上 逸朗、緒方 勤、深見 真紀
    • Organizer
      第51回日本小児内分泌学会学術集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 20番染色体母性片親性ダイソミー5例の臨床像の検討2017

    • Author(s)
      川嶋 明香、中村 明枝、井上 毅信、堀川 玲子、高野 亨子、水野 誠司、椿 淳子、緒方 勤、深見 真紀、鏡 雅代
    • Organizer
      第51回日本小児内分泌学会学術集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] IGF2遺伝子のdenovo変異が父親由来アレルで同定された裂手症合併Silver-Russell症候群の1例2017

    • Author(s)
      矢本 香織、才津 浩智、中川 憲夫、中島 久和、長谷川 龍志、藤澤 泰子、鏡 雅代、深見 真紀、緒方 勤
    • Organizer
      第51回日本小児内分泌学会学術集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] PHP-I型の69例における(エピ)遺伝子型-表現型解析2017

    • Author(s)
      佐野 伸一朗、中村 明枝、松原 圭子、加藤 芙弥子、深見 真紀、鏡 雅代、緒方 勤
    • Organizer
      第51回日本小児内分泌学会学術集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 6番染色体父性ダイソミーによる6q24関連糖尿病の2症例2017

    • Author(s)
      大高 幸之助、中島 信一、加藤 芙弥子、山口 理恵、増永 陽平、小野 裕之、永田 絵子、藤澤 泰子、依藤 亨、緒方 勤
    • Organizer
      第51回日本小児内分泌学会学術集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] Silver-Russell症候群とTemple症候群における臨床および遺伝学的診断の進歩2017

    • Author(s)
      緒方 勤
    • Organizer
      日本人類遺伝学会 第62回大会
    • Related Report
      2017 Annual Research Report

URL: 

Published: 2017-04-28   Modified: 2019-12-27  

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi