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Genetic disorders caused by the aberration of TGF signaling pathway and extracellular matrix proteins

Research Project

Project/Area Number 20590331
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Human genetics
Research InstitutionNagasaki University

Principal Investigator

KINOSHITA Akira  Nagasaki University, 大学院・医歯薬学総合研究科, 助教 (60372778)

Project Period (FY) 2008 – 2010
Project Status Completed (Fiscal Year 2010)
Budget Amount *help
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2010: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2009: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2008: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
KeywordsTransforming Growth Factorβ1 (TGFB1) / TGF受容体2型(TGFBR2) / モデルマウス / ES細胞 / 細胞外マトリックス / Camuratii-Enelmann Disease / Marfan syndrome Type II / transforming factor / TGF receptor type II / 細胞外マトリックスタンパク質 / キメラマウス / Camuratii-Engelmann Disease / Loeys-Dietz syndrome type 2B / transforming growth factor β1 / TGF受容体2型 / Marfan症候群タイプ2 / TGF-β1 / gene targeting / リアルタイムPCR法
Research Abstract

We previously reported that mutations in TGFB1 and TGFBR2 caused autosomal dominant disorders (Cammurati-Engelmann disease and Marfansyndrome type II). To reveal the relationship between unregulated production/adoption of extracellular matrix proteins andaberrant TGF signaling, I tried to establish model mice harboring mutant allelesofTgfb1orTgfbr2. However, all of chimera mice were infertile, and I could not accomplish this investigation program.

Report

(4 results)
  • 2010 Annual Research Report   Final Research Report ( PDF )
  • 2009 Annual Research Report
  • 2008 Annual Research Report
  • Research Products

    (48 results)

All 2011 2010 2009 2008 Other

All Journal Article (28 results) (of which Peer Reviewed: 13 results) Presentation (19 results) Remarks (1 results)

  • [Journal Article] Mutation and copy number analysis in paroxysmal kinesigenic dyskinesia families.2011

    • Author(s)
      Ono S, Yoshiura KI, Kurotaki N, Kikuchi T, Niikawa N, Kinoshita A
    • Journal Title

      MovDisord. (Epub ahead of print).

    • Related Report
      2010 Final Research Report
  • [Journal Article] Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders.2011

    • Author(s)
      Miura K, Higashi jima A, Shimada T, Miura S, Yamasaki K, Abe S, Jo O, Kinoshita A, Yoshida A, Yoshimura S, Niikawa N, Yoshiura KI, Masuzaki H
    • Journal Title

      J Hum Genet. (Epub ahead of print).

    • NAID

      10030658849

    • Related Report
      2010 Final Research Report
  • [Journal Article] Epidemiology of human papillomavirus genotypes in pregnant Japanese women.2011

    • Author(s)
      Yamasaki K, Miura K, Shimada T, Miura S, Abe S, Murakami M, Sameshima T, Fujishita A, Kotera K, Kinoshita A, Yoshiura KI, Masuzaki H
    • Journal Title

      J Hum Genet. (Epub ahead of print).

    • NAID

      10030658951

    • Related Report
      2010 Final Research Report
  • [Journal Article] Mutation and copy number analysis in paroxysmal kinesigenic dyskinesia families.2011

    • Author(s)
      Ono S., et al., (6人中6番目)
    • Journal Title

      Movement Disorders

      Volume: (in press)

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Clinical application of fetal sex determinatioh using ce11-free fetal DNA in pregnant carriers of X-linked genetic disorders.2011

    • Author(s)
      Miura K., et al., (13人中8番目)
    • Journal Title

      Journal of Human Genetics

      Volume: (in press)

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Epidemiology of human papillomavirus genotypes in pregnant Japanese women.2011

    • Author(s)
      Yamasaki K., et al., (12人中10番目)
    • Journal Title

      Journal of Human Genetics

      Volume: (in press)

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Identification of Pregnancy-Associated MicroRNAs in Maternal Plasma.2010

    • Author(s)
      Miura K, Miura S, Yamasaki K, Higashijima A, Kinoshita A, Yoshiura KI, Masuzaki H
    • Journal Title

      Clin Chem. 56(11)

      Pages: 1767-1771

    • Related Report
      2010 Final Research Report
  • [Journal Article] The possibility of microarray-based analysis using cell-free placental mRNA in maternal plasma.2010

    • Author(s)
      Miura K, Miura S, Yamasaki K, Shimada T, Kinoshita A, Niikawa N, Yoshiura K, Masuzaki H
    • Journal Title

      PrenatDiagn. 30(9)

      Pages: 849-861

    • Related Report
      2010 Final Research Report
  • [Journal Article] Familial brain arteriovenous malformation maps to 5p13-q14, 15q11-q13 or 18p11: Linkage analysis with clipped fingernail DNA on high-density SNP array.2010

    • Author(s)
      Oikawa M, Kuniba H, Kondoh T, Kinoshita A, Nagayasu T, Niikawa N, Yoshiura KI
    • Journal Title

      Eur J Med Genet. 53(5)

      Pages: 244-249

    • NAID

      120006984921

    • Related Report
      2010 Final Research Report
  • [Journal Article] Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjogren syndrome.2010

    • Author(s)
      Takahata T, Yamada K, Yamada Y, Ono S, Kinoshita A, Matsuzaka T, Yoshiura K, Kitaoka T
    • Journal Title

      J Hum Genet. 55(3)

      Pages: 142-146

    • NAID

      10030733893

    • Related Report
      2010 Final Research Report
  • [Journal Article] A type of familial cleft of the soft palate maps to 2p24.2-p24.1 or 2p21-p12.2010

    • Author(s)
      Tsuda M, Yamada T, Mikoya T, Sogabe I, Nakashima M, Minakami H, Kishino T, Kinoshita A, Niikawa N, Hirano A, Yoshiura K
    • Journal Title

      J Hum Genet. 55(2)

      Pages: 124-126

    • NAID

      10030733799

    • Related Report
      2010 Final Research Report
  • [Journal Article] Identification of Pregnancy-Associated MicroRNAs in Maternal Plasma.2010

    • Author(s)
      Miura K., et al., (7人中5番目)
    • Journal Title

      Clinical Chemistry

      Volume: 56(11) Pages: 1767-1771

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] The possibility of microarray-based analysis using cell-free placental mRNA in maternai plasma.2010

    • Author(s)
      Miura K., et al., (8人中5番目)
    • Journal Title

      Prenatal Diagnosis

      Volume: 30(9) Pages: 849-861

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Familial brain arteriovenous malformation maps to 5p13-q14, 15q11-q13 or 18p11 : Linkage analysis with clipped fingernail DNA on high-density SNP array.2010

    • Author(s)
      Oikawa M., et al., (7人中4番目)
    • Journal Title

      European Journal of Human Genetics

      Volume: 53(5) Pages: 244-249

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] TGFシグナル異常による骨・軟骨疾患-単一遺伝病からありふれた疾患まで2010

    • Author(s)
      木下晃
    • Journal Title

      医学のあゆみ

      Volume: 234(10) Pages: 987-992

    • Related Report
      2010 Annual Research Report
  • [Journal Article] Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjogren syndrome.2010

    • Author(s)
      Takahata T., et al.(8人中5番目)
    • Journal Title

      Journal of Human Genetics 55(3)(in press)

      Pages: 142-146

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A type familial cleft of the soft palate maps to 2p24.2-p24.1 or 2p21-p122010

    • Author(s)
      Tsuda M, et al.(11人中8番目)
    • Journal Title

      Journal of Human Genetics 55

      Pages: 124-126

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Japanese map of the earwax gene frequency : a nationwide collaborative study by Super Science High School Consortium.2009

    • Author(s)
      Super Science High School Consortium.
    • Journal Title

      J Hum Genet 54(9)

      Pages: 499-503

    • Related Report
      2010 Final Research Report
  • [Journal Article] Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.2009

    • Author(s)
      Kuniba H, Yoshiura K, Kondoh T, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Kaname T, Naritomi K, Matsumoto T, Moriuchi H, Kishino T, Kinoshita A, Miyake N, Matsumoto N, Niikawa N
    • Journal Title

      J Hum Genet. 54(5)

      Pages: 304-309

    • NAID

      10030730501

    • Related Report
      2010 Final Research Report
  • [Journal Article] Developmentally dynamic changes of DNA methylation in the mouse Snurf/Snrpn gene.2009

    • Author(s)
      Miyazaki K, Mapendano CK, Fuchigami T, Kondo S, Ohta T, Kinoshita A, Tsukamoto K, Yoshiura K, Niikawa N, Kishino T
    • Journal Title

      Gene. 432(1-2)

      Pages: 97-101

    • Related Report
      2010 Final Research Report
  • [Journal Article] Japanese map of the ear wax gene frequency : a nationwide collaborative study by Super Science High School Consortium.2009

    • Author(s)
      Super Science High School Consortium
    • Journal Title

      Journal of Human Genetics 54

      Pages: 499-503

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Molecular Karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.2009

    • Author(s)
      Kuniba, et al.(19人中16番目)
    • Journal Title

      Journal of Human Genetics 54

      Pages: 304-309

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Precision of high-throughput single-nucleotide polymorphism genotyping with fingernail DNA : comparison with blood DNA.2008

    • Author(s)
      Nakashima M, Tsuda M, Kinoshita A, Kishino T, Kondo S, Shimokawa O, Niikawa N, Yoshiura K
    • Journal Title

      ClinChemi. 54(10)

      Pages: 1746-1748

    • Related Report
      2010 Final Research Report
  • [Journal Article] Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan.2008

    • Author(s)
      Kuniba H, Tsuda M, Nakashima M, Miura S, Miyake N, Kondoh T, Matsumoto T, Moriuchi H, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Naritomi K, Matsumoto N, Kinoshita A, Yoshiura KI, Niikawa N
    • Journal Title

      J Med Genet. 45(7)

      Pages: 479-480

    • NAID

      120006983369

    • Related Report
      2010 Final Research Report
  • [Journal Article] Developmentally dynamic changes of DNA methylation in the mouse Snurf/Snrpn gene2008

    • Author(s)
      Miyazaki K., et al. (10人中6番目)
    • Journal Title

      Gene 54

      Pages: 1746-1748

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Precision of high-throughput single-nucleotide polymorphism genotyping with fingernail DNA : comparison with blood DNA2008

    • Author(s)
      Nakashima M., et al. (8人中3人目)
    • Journal Title

      Clinical Chemistry 54

      Pages: 1746-1748

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Lack of C20orf133 and FLRT3 mutations in 43 patients With Kabuki syndrome in Japan2008

    • Author(s)
      Kuniba, et al. (20人中18人目)
    • Journal Title

      Journal of Medical Genetics 45

      Pages: 479-480

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] TGFシグナル異常による骨・軟骨疾患-単一遺伝病からありふれた疾患まで医学のあゆみ

    • Author(s)
      木下晃
    • Journal Title

      234(10)

      Pages: 987-992

    • Related Report
      2010 Final Research Report
  • [Presentation] 子宮内膜癌特異的microRNAの網羅的スクリーニング2010

    • Author(s)
      城大空, ら, (11人中9番目)
    • Organizer
      第55回日本人類遺伝学会
    • Place of Presentation
      大宮ソニックシティー
    • Year and Date
      2010-10-30
    • Related Report
      2010 Annual Research Report
  • [Presentation] HELLP症候群と関連した胎盤特異的microRNAの網羅的解析2010

    • Author(s)
      三浦清徳, ら, (11人中9番目)
    • Organizer
      第55回日本人類遺伝学会
    • Place of Presentation
      大宮ソニックシティー
    • Year and Date
      2010-10-29
    • Related Report
      2010 Annual Research Report
  • [Presentation] 唇顎口蓋裂のGenome-wide association study2010

    • Author(s)
      引田正宣, ら, (10人中9番目)
    • Organizer
      第55回日本人類遺伝学会
    • Place of Presentation
      大宮ソニックシティー
    • Year and Date
      2010-10-29
    • Related Report
      2010 Annual Research Report
  • [Presentation] SFTPC遺伝子変異を認めた家族制肺線維証の一家系2010

    • Author(s)
      小野慎治, ら, (6人中3番目)
    • Organizer
      第55回日本人類遺伝学会
    • Place of Presentation
      大宮ソニックシティー
    • Year and Date
      2010-10-29
    • Related Report
      2010 Annual Research Report
  • [Presentation] ウイルス感染防御遺伝子のコピー数多型とHPV持続感染に関する検討2010

    • Author(s)
      阿部修平, ら, (8人中3番目)
    • Organizer
      第55回日本人類遺伝学会
    • Place of Presentation
      大宮ソニックシティー
    • Year and Date
      2010-10-29
    • Related Report
      2010 Annual Research Report
  • [Presentation] 全胞状奇胎に特異的なmicroRNAの網羅的スクリーニング2010

    • Author(s)
      長谷川ゆり, ら, (11人中9番目)
    • Organizer
      第55回日本人類遺伝学会
    • Place of Presentation
      大宮ソニックシティー
    • Year and Date
      2010-10-29
    • Related Report
      2010 Annual Research Report
  • [Presentation] 母体血中における胎盤特異的microRNA群の網羅的スクリーニング2010

    • Author(s)
      東島愛, ら, (11人中9番目)
    • Organizer
      第55回日本人類遺伝学会
    • Place of Presentation
      大宮ソニックシティー
    • Year and Date
      2010-10-29
    • Related Report
      2010 Annual Research Report
  • [Presentation] HELLP症候群と関連した胎盤特異的microRNAの網羅的解析2010

    • Author(s)
      三浦清徳, 東島愛, 三浦生子, 山崎健太郎, 阿部修平, 城大空, 長谷川ゆり, 中山大介, 木下晃, 吉浦孝一郎, 増崎英明
    • Organizer
      第55回日本人類遺伝学会
    • Related Report
      2010 Final Research Report
  • [Presentation] 唇顎口蓋裂のGenome-wide associationstudy2010

    • Author(s)
      引田正宣, 津田雅由, 佐々木健作, 三嶋博之, 吉田和加, 夏目長門, 内山健志, 平野明喜, 木下晃, 吉浦孝一郎
    • Organizer
      第55回日本人類遺伝学会
    • Related Report
      2010 Final Research Report
  • [Presentation] SFTPC遺伝子変異を認めた家族制肺線維証の一家系2010

    • Author(s)
      小野慎治, 田中健之, 木下晃, 石田雅之, 森本浩之輔, 吉浦孝一郎
    • Organizer
      第55回日本人類遺伝学会
    • Related Report
      2010 Final Research Report
  • [Presentation] 子宮内膜癌特異的microRNAの網羅的スクリーニング2010

    • Author(s)
      城大空, 三浦清徳, 東島愛, 三浦生子, 山崎健太郎, 阿部修平, 増崎雅子, 長谷川ゆり, 木下晃, 吉浦孝一郎, 増崎英明
    • Organizer
      第55回日本人類遺伝学会
    • Related Report
      2010 Final Research Report
  • [Presentation] ウイルス感染防御遺伝子のコピー数多型とHPV持続感染に関する検討2010

    • Author(s)
      阿部修平, 三浦清徳, 木下晃, 山崎健太郎, 三浦生子, 嶋田貴子, 吉浦孝一郎, 増崎英明
    • Organizer
      第55回日本人類遺伝学会
    • Related Report
      2010 Final Research Report
  • [Presentation] 全胞状奇胎に特異的なmicroRNAの網羅的スクリーニング2010

    • Author(s)
      長谷川ゆり, 三浦清徳, 東島愛, 城大空, 阿部修平, 三浦生子, 増崎雅子, 山崎健太郎, 木下晃, 吉浦孝一郎, 増崎英明
    • Organizer
      第55回日本人類遺伝学会
    • Related Report
      2010 Final Research Report
  • [Presentation] 母体血中における胎盤特異的microRNA群の網羅的スクリーニング2010

    • Author(s)
      東島愛, 三浦清徳, 三浦生子, 山崎健太郎, 阿部修平, 城大空, 長谷川ゆり, 中山大介, 木下晃, 吉浦孝一郎, 増崎英明
    • Organizer
      第55回日本人類遺伝学会
    • Related Report
      2010 Final Research Report
  • [Presentation] ヒト疾患モデルとしてのinterferon regulatory factor 6遺伝子改変マウスの表現型解析2009

    • Author(s)
      木下晃, Brian C.Schutte, 吉浦孝一郎
    • Organizer
      第16回遺伝子診療学会
    • Place of Presentation
      ホテル札幌ガーデンプレース
    • Year and Date
      2009-07-31
    • Related Report
      2009 Annual Research Report
  • [Presentation] 発作性運動誘発性アテトーゼ(PKC)の変異解析2009

    • Author(s)
      小野慎治, 菊池妙子, 木下晃, 小澤寛樹, 新川詔夫, 吉浦孝一郎
    • Organizer
      第54回日本人類遺伝学会
    • Related Report
      2010 Final Research Report
  • [Presentation] ヒト疾患モデルとしてのinterferon regulatory factor 6遺伝子改変マウスの表現型解析2009

    • Author(s)
      木下晃, Brian C.Schutte, 吉浦孝一郎
    • Organizer
      第16回日本遺伝子診療学会
    • Related Report
      2010 Final Research Report
  • [Presentation] 大規模SNPタイピングにおける爪DNAの有用性の検討2008

    • Author(s)
      中島 光子, 他(5人中3番目)
    • Organizer
      第53回日本人類遺伝学会
    • Place of Presentation
      パシフィコ横浜
    • Year and Date
      2008-09-30
    • Related Report
      2008 Annual Research Report
  • [Presentation] C20orf133は歌舞伎メーキャップ症候群の責任遺伝子ではない2008

    • Author(s)
      国場 英雄, 他(17人中15番目)
    • Organizer
      第53回日本人類遺伝学会
    • Place of Presentation
      パシフィコ横浜
    • Year and Date
      2008-09-30
    • Related Report
      2008 Annual Research Report
  • [Remarks] ホームページ等

    • Related Report
      2010 Final Research Report

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Published: 2008-04-01   Modified: 2016-04-21  

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