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Morphogenesis and Carcinogenesis regulated by PTCH1 gene

Research Project

Project/Area Number 21591313
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionChiba University

Principal Investigator

FUJII Katsurnori  千葉大学, 大学院・医学研究院, 講師 (70344992)

Project Period (FY) 2009 – 2011
Project Status Completed (Fiscal Year 2011)
Budget Amount *help
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2011: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2010: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2009: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Keywordsゲノム / 遺伝学 / 遺伝子 / 癌 / 放射線
Research Abstract

We performed cytological and genetic examinations in our study. In cytological analysis, we tried to reveal PTCH molecule in the cells by using in situ immunostaining. However, we could not reveal them maybe due to the low affinity of PTCH antibodies, although we tried to use multiple antibodies made by some companies. In genetic analysis, we revealed many PTCH mutations in Gorlin syndrome patients. In particular, we also could identify tandem repeat in the PTCH gene, resulting in Gorlin syndrome.

Report

(4 results)
  • 2011 Annual Research Report   Final Research Report ( PDF )
  • 2010 Annual Research Report
  • 2009 Annual Research Report
  • Research Products

    (57 results)

All 2012 2011 2010 2009 Other

All Journal Article (32 results) (of which Peer Reviewed: 29 results) Presentation (20 results) Book (1 results) Remarks (4 results)

  • [Journal Article] Nationwide survey of nevoid basal cell carcinoma syndrome in Japan revealing low frequency of basal cell carcinoma2012

    • Author(s)
      Endo M, Fujii K, Sugita K, Saito K, Kohno Y, Miyashita T
    • Journal Title

      Am J Med Genet A

      Volume: 158A Issue: 2 Pages: 351-7

    • DOI

      10.1002/ajmg.a.34421

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Inhibition of cell viability by human IFN-b is mediated by microRNA-4312012

    • Author(s)
      Tanaka T, Sugaya S, Kita K, Arai M, Kanda T, Fujii K, Imazeki F, Sugita K, Yokosuka O, Suzuki N
    • Journal Title

      Int J Oncol

      Volume: 40 Pages: 1470-6

    • DOI

      10.3892/ijo.2012.1345

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Multiple cavitations in posterior reversible leukoencephalopathy syndrome associated with hemolytic-uremic syndrome2012

    • Author(s)
      Fujii K, Matsuo K, Takatani T, Uchikawa H, Kohno H
    • Journal Title

      Brain Dev

      Volume: 34 Pages: 318-21

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] ヘッジホッグシグナルと脳腫瘍2012

    • Author(s)
      塩浜直, 内川英紀, 水落弘美, 宮下俊之, 藤井克則
    • Journal Title

      脳神経外科速報

      Volume: 第22巻第1号 Pages: 66-73

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Nationwide survey of nevoid basal cell carcinoma syndrome in Japan revealing the low frequency of basal cell carcinoma2012

    • Author(s)
      Endo M, Fujii K, Sugita K, Saito K, Kohno Y, Miyashita T
    • Journal Title

      American Journal of Medical Genetics

      Volume: 158A Pages: 351-358

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Entire PTCH1 deletion is a common event in point mutation-negative cases with nevoid basal cell carcinoma syndrome in Japan2011

    • Author(s)
      Nagao K, Fujii K, Saito K, Sugita K, Endo M, Motojima T, Hatsuse H, Miyashita T
    • Journal Title

      Clin Genet

      Volume: 79 Pages: 196-8

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] 逃してはいけない家族性腫瘍:本邦における母斑基底細胞癌症候群の遺伝子変異と臨床的特徴2011

    • Author(s)
      宮下俊之, 桐生麻衣子, 斎藤加代子, 杉田克生, 遠藤真美子, 藤井克則
    • Journal Title

      家族性腫瘍

      Volume: 第11巻第1号 Pages: 14-8

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Entire PTCH1 deletion is a common event in point mutation-negative cases with nevoid basal cell carcinoma syndrome in Japan2011

    • Author(s)
      Nagao K, Fujii K, Saito K, et al.
    • Journal Title

      Clinical Genetics

      Volume: 79 Pages: 196-198

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 見逃してはいけない家族性腫瘍:本邦における母斑基底細胞癌症候群の遺伝子変異と臨床的特徴2011

    • Author(s)
      宮下俊之、桐生麻衣子、斎藤加代子、杉田克生、遠藤真美子、藤井克則
    • Journal Title

      家族性腫瘍

      Volume: 11 Pages: 14-18

    • NAID

      130007529694

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly2010

    • Author(s)
      Komoike Y, Fujii K, Nishimura A, Hiraki Y, Hayashidani M, Shimojima K, Nishizawa T, Higashi K, Yasukawa K, Saitsu H, Miyake N, Mizuguchi T, Matsumoto N, Osawa M, Kohno Y, Higashinakagawa T, Yamamoto T
    • Journal Title

      Genesis

      Volume: 48 Pages: 233-43

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Multiple keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome having distinct PTCH1 mutations2010

    • Author(s)
      Sasaki R, Miyashita T, Saito K, Fujii K, Ando T, Akizuki T
    • Journal Title

      Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology and Endodontology (Oral Surg Oral Med Oral Pathol Oral Radiol Endod)

      Volume: 110

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] 基底細胞母斑症候群」小児科臨床ピクシス17「年代別子どもの皮膚疾患2010

    • Author(s)
      藤井克則
    • Journal Title

      中山書店五十嵐隆総編集、専門編集馬場直子

      Pages: 34-35

    • Related Report
      2011 Final Research Report
  • [Journal Article] 顎骨内嚢胞、手掌小陥凹、粗野顔貌を呈した11歳女児例2010

    • Author(s)
      藤井克則
    • Journal Title

      イメージからせまる小児神経疾患

      Volume: 50 Pages: 35-36

    • Related Report
      2011 Final Research Report
  • [Journal Article] Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly2010

    • Author(s)
      Komoike Y, Fujii K, Nishimura A, Hiraki Y, Hayashidani M, Shimojima K, et al.
    • Journal Title

      Genesis

      Volume: 48 Pages: 233-243

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Multiple keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome having distinct PTCH mutations2010

    • Author(s)
      Sasaki R, Miyashita T, Saito K, Fujii K, Ando T, Akizaki T.
    • Journal Title

      Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology and Endocrinology

      Volume: 110

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Acute disseminated encephalomyelitis associated with 2009 H1N1 influenza vaccine2009

    • Author(s)
      Fujii K, Suyama M, Chiba K, Okunushi T, Oikawa J, Kohno Y
    • Journal Title

      Pediatr Int

      Volume: (in press)

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Homozygous Female Becker muscular dystrophy2009

    • Author(s)
      Fujii K, Minami N, Hayashi Y, Nishino I, Nonaka I, Tanabe Y, Takanashi J, Kohno Y
    • Journal Title

      Am J Med Genet

      Volume: 149A Pages: 1052-5

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Nevoid basal cell carcinoma syndrome with cleft lip and palate associated with the novel PTCH gene mutations2009

    • Author(s)
      Sasaki R, Saito K, Watanabe Y, Takayama Y, Fujii K, Agawa K, Miyashita T, Ando T, Akizuki T
    • Journal Title

      J Hum Genet

      Volume: 54 Pages: 398-402

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Kernicteroid Syndrome of Preterm Infants2009

    • Author(s)
      Okumura A, Kidokoro H, Shoji H, Nakazawa T, Mimaki M, Fujii K, Oba H, Shimizu T
    • Journal Title

      Pediatrics

      Volume: 123(6)

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] A splenial lesion with transiently reduced diffusion in clinically mild encephalitis is not always reversible2009

    • Author(s)
      Hashimoto Y, Takanashi J, Kaiho K, Fujii K, Okubo T, Ota S, Kohno Y
    • Journal Title

      A case report

      Volume: 31 Pages: 710-2

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] 顎骨嚢胞および大脳鎌の石灰化を契機に診断されたGorlin症候群の1例2009

    • Author(s)
      藤井克則, 内川英紀, 杉田克生, 河野陽一
    • Journal Title

      児疾患アトラス目で見る小児科150小児科別冊

      Volume: 46 Pages: 288-9

    • Related Report
      2011 Final Research Report
  • [Journal Article] ヘッジホッグと形態形成-発生生物学から臨床医学への応用-2009

    • Author(s)
      藤井克則, 宮下俊之
    • Journal Title

      脳と発達

      Volume: 41 Pages: 247-252

    • NAID

      10024846234

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] ヘッジホッグと形態形成-Gorlin症候群とPTCH遺伝子変異-2009

    • Author(s)
      藤井克則, 宮下俊之
    • Journal Title

      日本小児皮膚科学会雑誌

      Volume: 28 Pages: 65-71

    • NAID

      10026418020

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Gorlin症候群における臨床的検討-主要症状を中心とした多様な症候スペクトラム-2009

    • Author(s)
      田辺良, 藤井克則, 宮下俊之, 杉田克生, 内川英紀, 遠藤真美子, 新井ひでえ, 河野陽一
    • Journal Title

      脳と発達

      Volume: 41 Pages: 253-257

    • NAID

      10024846296

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Gorlin症候群における分子遺伝学的検討-PTCH1遺伝子変異とその多様な変異スペクトラム-2009

    • Author(s)
      遠藤真美子, 藤井克則, 宮下俊之, 杉田克生, 内川英紀, 田辺良, 新井ひでえ, 河野陽一
    • Journal Title

      脳と発達

      Volume: 41 Pages: 259-263

    • NAID

      10024846313

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Nevoid basal cell carcinoma syndrome with cleft lip and palate associated with the novel PTCH gene mutations2009

    • Author(s)
      Sasaki R, Saito K, Watanabe Y, Takayama Y, Fujii K, et al
    • Journal Title

      Journal of Human Genetics 54

      Pages: 398-402

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] ヘッジホッグと形態形成-Gorlin症候群とPTCH遺伝子変異2009

    • Author(s)
      藤井克則、宮下俊之
    • Journal Title

      日本小児皮膚科学会雑誌 28

      Pages: 65-71

    • NAID

      10026418020

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] ヘッジホッグと形態形成-発生生物学から臨床医学への応用-2009

    • Author(s)
      藤井克則、宮下俊之
    • Journal Title

      脳と発達 41

      Pages: 247-252

    • NAID

      10024846234

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Gorlin症候群における分子遺伝学的検討-PTCH1遺伝子変異とその多様な変異スペクトラム-2009

    • Author(s)
      遠藤真美子、藤井克則、宮下俊之, ら
    • Journal Title

      脳と発達 41

      Pages: 259-263

    • NAID

      10024846313

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Heterozygous tandem duplication within the PTCH1 gene results in nevoid basal cell carcinoma syndrome

    • Author(s)
      Kosaki R, Nagao K, Kameyama K, Suzuki M, Fujii K, Miyashita T
    • Journal Title

      Am J Med Genet

      Volume: (in press)

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Prevention of Pancreatic Cancer

    • Author(s)
      Jiang X, Sugaya S, Ren Q, Sato T, Tanaka T, Fujii K, Kita K, Suzuki N
    • Journal Title

      Intech

      Volume: (in press)

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Reversible cerebral vasoconstriction syndrome associated with brain parenchymal hemorrhage

    • Author(s)
      Kazato Y, Fujii K, Oba H, Hino M, Ochiai H, Uchikawa H, Kohno Y
    • Journal Title

      Brain and Dev

      Volume: (in press)

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Presentation] 日本における母斑性基底細胞癌症候群における基底細胞癌発症率2011

    • Author(s)
      藤井克則, 宮下俊之
    • Organizer
      第70回日本癌学会学術総会
    • Year and Date
      2011-10-04
    • Related Report
      2011 Final Research Report
  • [Presentation] 母斑基底細胞癌症候群に発症する角化嚢胞性歯原性腫瘍の腫瘍化機序の解析2011

    • Author(s)
      鈴木麻衣子, 長尾和右, 高山吉永, 藤井克則, 宮下俊之
    • Organizer
      第70回日本癌学会学術総会
    • Year and Date
      2011-10-04
    • Related Report
      2011 Final Research Report
  • [Presentation] 日本における母斑性基底細胞癌症候群における基底細胞癌発症率2011

    • Author(s)
      藤井克則、宮下俊之
    • Organizer
      第70回日本癌学会学術総会
    • Place of Presentation
      名古屋
    • Year and Date
      2011-10-04
    • Related Report
      2011 Annual Research Report
  • [Presentation] 母斑基底細胞癌症候群に発症する角化嚢胞性歯原性腫瘍の腫瘍化機序の解析2011

    • Author(s)
      鈴木麻衣子、長尾和右、高山吉永、藤井克則、宮下俊之
    • Organizer
      第70回日本癌学会学術総会
    • Place of Presentation
      名古屋
    • Year and Date
      2011-10-04
    • Related Report
      2011 Annual Research Report
  • [Presentation] Nationwide survey of Gorlin syndrome in Japan2011

    • Author(s)
      Fujii K, Endo M, Mizuochi H, Uchikawa H, Sugita K, Kohno Y, Saito K, Miyashita T
    • Organizer
      5^<th> Europediatrics
    • Place of Presentation
      Vienna (Austria)
    • Year and Date
      2011-06-25
    • Related Report
      2011 Annual Research Report
  • [Presentation] Bone mass density in patients with Gorlin syndrome is partially regulated by hedgehog signaling2011

    • Author(s)
      Mizuochi H, Fujii K, Miyashita T, Suyama M, Endo M, Uchikawa H, Kohno Y
    • Organizer
      5^<th> Europediatrics
    • Place of Presentation
      Vienna (Austria)
    • Year and Date
      2011-06-25
    • Related Report
      2011 Annual Research Report
  • [Presentation] Identification of PTCH1 mutations in Japanese Gorlin syndrome patient2011

    • Author(s)
      Uchikawa H, Fujii K, Miyashita T, Endo M, Mizuochi H, Kohno Y
    • Organizer
      5^<th> Europediatrics
    • Place of Presentation
      Vienna (Austria)
    • Year and Date
      2011-06-25
    • Related Report
      2011 Annual Research Report
  • [Presentation] 本邦におけるGorlin症候群157例の臨床的検討2011

    • Author(s)
      遠藤真美子、藤井克則、水落弘美、須山麻衣子、内川英紀、宮下俊之、斎藤加代子、杉田克生、河野陽一
    • Organizer
      第53回日本小児神経学会
    • Place of Presentation
      横浜
    • Year and Date
      2011-05-27
    • Related Report
      2011 Annual Research Report
  • [Presentation] Alu配列を介したPTCH遺伝子全欠失のGorlin症候群親子例2011

    • Author(s)
      本島敏乃、藤井克則、宮下俊之、引間昭夫、遠藤真美子、河野陽一
    • Organizer
      第53回日本小児神経学会
    • Place of Presentation
      横浜
    • Year and Date
      2011-05-27
    • Related Report
      2011 Annual Research Report
  • [Presentation] Nasal gliomaを合併したGorlin症候群の1男児例2011

    • Author(s)
      内川英紀、藤井克則、大場洋、宮下俊之、遠藤真美子、須山麻衣子、水落弘美、河野陽一
    • Organizer
      第53回日本小児神経学会
    • Place of Presentation
      横浜
    • Year and Date
      2011-05-27
    • Related Report
      2011 Annual Research Report
  • [Presentation] Gorlin症候群と骨形成の検討-動物モデルと骨密度との関連-2011

    • Author(s)
      水落弘美、藤井克則、宮下俊之、須山麻衣子、遠藤真美子、内川英紀、河野陽一
    • Organizer
      第53回日本小児神経学会
    • Place of Presentation
      横浜
    • Year and Date
      2011-05-27
    • Related Report
      2011 Annual Research Report
  • [Presentation] Nationwide survey of Gorlin syndrome in Japan2011

    • Author(s)
      Fujii K, Endo M, Mizuochi H, Uchikawa H, Sugita K, Kohno Y, Saito K, Miyashita T
    • Organizer
      2011 5th Europediatrics
    • Place of Presentation
      Vienna, Austria
    • Related Report
      2011 Final Research Report
  • [Presentation] Bone mass density in patients with Gorlin syndrome is partially regulated by hedgehog signaling2011

    • Author(s)
      Mizuochi H, Fujii K, Miyashita T, Suyama M, Endo M, Uchikawa H, Kohno Y
    • Organizer
      2011 5th Europediatrics
    • Place of Presentation
      Vienna, Austria
    • Related Report
      2011 Final Research Report
  • [Presentation] Identification of PTCH1 mutations in Japanese Gorlin syndrome patients2011

    • Author(s)
      Uchikawa H, Fujii K, Miyashita T, Endo M, Mizuochi H, Kohno Y
    • Organizer
      2011 5th Europediatrics
    • Place of Presentation
      Vienna, Austria
    • Related Report
      2011 Final Research Report
  • [Presentation] 本邦におけるGorlin症候群157例の臨床的検討2011

    • Author(s)
      遠藤真美子, 藤井克則, 水落弘美, 須山麻衣子, 内川英紀, 宮下俊之, 斎藤加代子, 杉田克生, 河野陽一
    • Organizer
      第53回日本小児神経学会総会
    • Place of Presentation
      横浜
    • Related Report
      2011 Final Research Report
  • [Presentation] Alu配列を介したPTCH遺伝子全欠失のGorlin症候群親子例2011

    • Author(s)
      本島敏乃, 藤井克則, 宮下俊之, 引間昭夫, 遠藤真美子, 河野陽一
    • Organizer
      第53回日本小児神経学会総会
    • Place of Presentation
      横浜
    • Related Report
      2011 Final Research Report
  • [Presentation] Nasal gliomaを合併したGorlin症候群の1男児例2011

    • Author(s)
      内川英紀, 藤井克則, 大場洋, 宮下俊之, 遠藤真美子, 須山麻衣子, 水落弘美, 河野陽一
    • Organizer
      第53回日本小児神経学会総会
    • Place of Presentation
      横浜
    • Related Report
      2011 Final Research Report
  • [Presentation] Gorlin症候群と骨形成の検討-動物モデルと骨密度との関連-2011

    • Author(s)
      水落弘美, 藤井克則, 宮下俊之, 須山麻衣子, 遠藤真美子, 内川英紀, 河野陽一
    • Organizer
      第53回日本小児神経学会総会
    • Place of Presentation
      横浜
    • Related Report
      2011 Final Research Report
  • [Presentation] Germline and somatic PTCH1 mutations in Japanese basal cell nevus syndrome2010

    • Author(s)
      Fuju K, Endo M, Miyashita T, etal.
    • Organizer
      11^<th> International Child Neurology Congress
    • Place of Presentation
      Cairo, Egypt
    • Year and Date
      2010-05-03
    • Related Report
      2010 Annual Research Report
  • [Presentation] ヘッジホッグと形態形成-Gorlin症候群とPTCH遺伝子変異2009

    • Author(s)
      藤井克則
    • Organizer
      第33回日本児皮膚科学会
    • Place of Presentation
      幕張メッセ国際会議場
    • Year and Date
      2009-07-04
    • Related Report
      2009 Annual Research Report
  • [Book] 「基底細胞母斑症候群」小児科臨床ピクシス17年代別子どもの皮膚疾患2010

    • Author(s)
      藤井克則
    • Total Pages
      180
    • Publisher
      中山書店
    • Related Report
      2010 Annual Research Report
  • [Remarks] Gorlin症候群のホームページ開設

    • URL

      http://gorlin.chibadai-shonika.net/gorlin_syndrome/

    • Related Report
      2011 Final Research Report
  • [Remarks]

    • URL

      http://www.chibadai-shonika.net/research/neuro-research.php

    • Related Report
      2011 Annual Research Report
  • [Remarks]

    • URL

      http://www.chibadai-shonika.net/research/neuro-research.php

    • Related Report
      2010 Annual Research Report
  • [Remarks]

    • URL

      http://www.chibadai-shonika.net/research/neuro-research.php

    • Related Report
      2009 Annual Research Report

URL: 

Published: 2009-04-01   Modified: 2016-04-21  

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