Fujimaru Takuya 藤丸拓也

Researcher Number	40880547
Other IDs
Affiliation (based on the past Project Information) *help	2020 – 2023: 東京医科歯科大学, 大学院医歯学総合研究科, 非常勤講師
Review Section/Research Field	Principal Investigator Basic Section 53040:Nephrology-related / 0903:Organ-based internal medicine and related fields
Keywords	Principal Investigator 遺伝子診断 / 腎臓学 / 遺伝子解析 / ネフロン癆 / 末期腎不全 / 次世代シークエンサー / 腎代替療法 / 血液透析 / 遺伝性腎疾患 / 慢性腎臓病 / 遺伝子改変モデルマウス / 次世代シーケンサー

Elucidation of the clinical features and pathophysiology of nephronopthisis in adult patients with chronic kidney diseasePrincipal Investigator
- Principal Investigator
  
  Fujimaru Takuya
- Project Period (FY)
  2022 – 2023
- Research Category
  
  Grant-in-Aid for Early-Career Scientists
- Review Section
  
  Basic Section 53040:Nephrology-related
- Research Institution
  Tokyo Medical and Dental University
Clarification of genetic background of adult patients with chronic kidney diseasePrincipal Investigator
- Principal Investigator
  
  Fujimaru Takuya
- Project Period (FY)
  2020 – 2021
- Research Category
  
  Grant-in-Aid for Research Activity Start-up
- Review Section
  
  0903:Organ-based internal medicine and related fields
- Research Institution
  Tokyo Medical and Dental University

All 2024 2023 2022 2021 2020

All Journal Article Presentation

[Journal Article] Genetic Diagnosis of Adult Hemodialysis Patients With Unknown Etiology2024
- Author(s)
  Fujimaru Takuya、Mori Takayasu、Chiga Motoko、Mandai Shintaro、Kikuchi Hiroaki、Ando Fumiaki、Mori Yutaro、Susa Koichiro、Nakano Yuta、Shoji Takao、Fukudome Yuichiro、Inaba Naoto、Kitamura Kenichiro、Nakanishi Taichi、Uchida Keiko、Kimura Toshihiro、Tamura Teiichi、Ozawa Kiyoshi、Uchida Shinichi、Sohara Eisei
- Journal Title
  
  Kidney International Reports
  
  Volume: 9 Issue: 4 Pages: 994-1004
- DOI
  10.1016/j.ekir.2024.01.027
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-21K08249, KAKENHI-PROJECT-22K16233
[Journal Article] Different Clinical Courses of Nephronophthisis in Dizygotic Twins2023
- Author(s)
  Oki Yutaro、Katsuma Ai、Okabe Masahiro、Watanabe Mao、Sagasaki Makoto、Takahashi Daisuke、Kimura Ai、Kato Junichiro、Ueda Hiroyuki、Hataya Hiroshi、Fujimaru Takuya、Mori Takayasu、Sohara Eisei、Uchida Shinichi、Miyazaki Yoichi、Yokoo Takashi
- Journal Title
  
  Intern. Med.
  
  Volume: 62 Issue: 1 Pages: 87-90
- DOI
  10.2169/internalmedicine.8707-21
- ISSN
  0918-2918, 1349-7235
- Year and Date
  2023-01-01
- Language
  English
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21K08249, KAKENHI-PROJECT-22K19518, KAKENHI-PROJECT-22K16233
[Journal Article] Tuberous sclerosis complicated with polycystic kidney disease in a young adolescent with decreased renal function but without abnormalities in TSC2, PKD1, and PKD2 genes2023
- Author(s)
 小野敦史, 前田亮, 陶山和秀, 細矢光亮, 藤丸拓也, 森崇寧, 蘇原映誠, 内田信一.
- Journal Title
 
 Japanese journal of pediatric nephrology
 
 Volume: 36 Issue: 0 Pages: 61-66
- DOI
 10.3165/jjpn.cr.2022.0213
- ISSN
 0915-2245, 1881-3933
- Language
 Japanese
- Peer Reviewed
- Data Source
 KAKENHI-PROJECT-21K08249, KAKENHI-PROJECT-22K16233
[Journal Article] 特集 CKD患者を診たら-最近のCKD診療の知見とその活かし方トピックス CKDに潜む遺伝性腎疾患2021
- Author(s)
  森崇寧、藤丸拓也、蘇原映誠
- Journal Title
  
  内科
  
  Volume: 128 Issue: 5 Pages: 1057-1060
- DOI
  10.15106/j_naika128_1057
- ISSN
  0022-1961, 2432-9452
- Year and Date
  2021-11-01
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K22926
[Journal Article] novel LMX1B variant identified in a patient presenting with severe renal involvement and thin glomerular basement membrane2021
- Author(s)
  Morimoto Nobuhisa、Nagahama Kiyotaka、Mori Takayasu、Fujimaru Takuya、Tsuura Yukio、Terai Ayumi、Tanabe Madoka、Otani Megumi、Shioji Shingo、Hirasawa Suguru、Aki Shota、Aoyagi Makoto、Sohara Eisei、Uchida Shinichi、Tanaka Hiroyuki
- Journal Title
  
  Nephron
  
  Volume: 145 Issue: 6 Pages: 776-782
- DOI
  10.1159/000518423
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K22926, KAKENHI-PROJECT-21K06930, KAKENHI-PROJECT-21K08249
[Journal Article] Echocardiographic Findings and Genotypes in Autosomal Dominant Polycystic Kidney Disease2021
- Author(s)
  Miyamoto Ryohei、Sekine Akinari、Fujimaru Takuya、Suwabe Tatsuya、Mizuno Hiroki、Hasegawa Eiko、Yamanouchi Masayuki、Chiga Motoko、Mori Takayasu、Sohara Eisei、Uchida Shinichi、Sawa Naoki、Ubara Yoshifumi、Hoshino Junichi
- Journal Title
  
  Kidney Diseases
  
  Volume: 8 Issue: 3 Pages: 246-252
- DOI
  10.1159/000520300
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K22926
[Journal Article] Genetic Background and Clinicopathologic Features of Adult-onset Nephronophthisis2021
- Author(s)
  Fujimaru Takuya、Kawanishi Kunio、et al.
- Journal Title
  
  Kidney International Reports
  
  Volume: 未定 Issue: 5 Pages: 1346-1354
- DOI
  10.1016/j.ekir.2021.02.005
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K17730, KAKENHI-PROJECT-19K17699, KAKENHI-PROJECT-20K22926, KAKENHI-PROJECT-19H03556, KAKENHI-PROJECT-20H03697, KAKENHI-PROJECT-21K08249, KAKENHI-PROJECT-19H03672
[Journal Article] Genetics May Predict Effectiveness of Tolvaptan in Autosomal Dominant Polycystic Kidney Disease2020
- Author(s)
  Sekine Akinari、Hoshino Junichi、Fujimaru Takuya、Suwabe Tatsuya、Mizuno Hiroki、Kawada Masahiro、Hiramatsu Rikako、Hasegawa Eiko、Yamanouchi Masayuki、Hayami Noriko、Mandai Shintaro、Chiga Motoko、Kikuchi Hiroaki、Ando Fumiaki、Mori Takayasu、Sohara Eisei、Uchida Shinichi、Sawa Naoki、Takaichi Kenmei、Ubara Yoshifumi
- Journal Title
  
  American Journal of Nephrology
  
  Volume: 51 Issue: 9 Pages: 745-751
- DOI
  10.1159/000509817
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K22926, KAKENHI-PROJECT-19H03672, KAKENHI-PROJECT-18K08227, KAKENHI-PROJECT-19K17733
[Journal Article] Phenotypic differences of mutation‐negative cases in Gitelman syndrome clinically diagnosed in adulthood2020
- Author(s)
  Mori Takayasu、Chiga Motoko、Fujimaru Takuya、Kawamoto Ryosuke、Mandai Shintaro、Nanamatsu Azuma、Nomura Naohiro、Ando Fumiaki、Susa Koichiro、Sohara Eisei、Rai Tatemitsu、Uchida Shinichi
- Journal Title
  
  Human Mutation
  
  Volume: 42 Issue: 3 Pages: 300-309
- DOI
  10.1002/humu.24159
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K22926, KAKENHI-PROJECT-19H03556, KAKENHI-PROJECT-19H03672, KAKENHI-PROJECT-19K17733, KAKENHI-PROJECT-21K08249
[Journal Article] Copy Number Variation: A?New Genetic Form of?Polycystic Kidney and Liver Disease2020
- Author(s)
  Fujimaru Takuya、Sohara Eisei
- Journal Title
  
  Kidney International Reports
  
  Volume: 5 Issue: 5 Pages: 575-576
- DOI
  10.1016/j.ekir.2020.03.007
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K22926, KAKENHI-PROJECT-19H03672
[Presentation] Discovery of a Novel Candidate Gene Implicated in X-Linked Polycystic Kidney Disease2023
- Author(s)
  Takayasu Mori, Takuya Fujimaru, Chunyu Liu, Karynne Patterson, Kohei Yamamoto, Takefumi Suzuki, Motoko Chiga, Shintaro Mandai, Fumiaki Ando, Yutaro Mori, Koichiro Susa, Yue-Qiu Tan, Feng Zhang, Shinichi Uchida, Eisei Sohara.
- Organizer
  American Society of Nephrology Kidney Week 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22K16233
[Presentation] IFT140のヘテロ接合性変異は家族歴のない成人多発性腎嚢胞の一因である2023
- Author(s)
  藤丸拓也, 森崇寧, 蘇原映誠, 千賀宗子, 萬代新太郎, 藤木珠美, 森雄太郎, 安藤史顕, 須佐紘一郎, 飯盛聡一郎, 内藤省太郎, 内田信一.
- Organizer
  第66回日本腎臓学会学術総会
- Data Source
  KAKENHI-PROJECT-22K16233
[Presentation] 成人期に末期腎不全に至った患者の遺伝的背景の検討2023
- Author(s)
  藤丸拓也, 蘇原映誠, 森崇寧, 千賀宗子, 萬代新太郎, 中野雄太, 森雄太郎, 安藤史顕, 須佐紘一郎, 東海林隆男, 福留裕一郎, 稲葉直人, 北村健一郎, 中西太一, 木村寿宏, 田村禎一, 小澤潔, 内田信一.
- Organizer
  第66回日本腎臓学会学術総会
- Data Source
  KAKENHI-PROJECT-22K16233
[Presentation] Monoallelic IFT140 Pathogenic Variants in Adult Polycystic Kidney Disease Patients Without Family History2023
- Author(s)
  Takuya Fujimaru, Takayasu Mori, Motoko Chiga, Shintaro Mandai,Yu Hara, Tamami Fujiki, Hiroaki Kikuchi, Yutaro Mori, Fumiaki Ando, Koichiro Susa, Soichiro Iimori, Shotaro Naito, Shinichi Uchida, Eisei Sohara.
- Organizer
  American Society of Nephrology Kidney Week 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22K16233
[Presentation] 多発性嚢胞腎患者における遺伝学的背景と大腸憩室の関係性について.2022
- Author(s)
  小澤征良, 関根章成, 藤丸拓也, 諏訪部達也, 水野裕基, 井上典子, 長谷川詠子, 山内真之, 大庭悠貴, 井熊大輔, 田中希穂, 森崇寧, 蘇原映誠, 内田信一, 澤直樹, 乳原善文, 星野純一.
- Organizer
  第65回日本腎臓学会学術総会
- Data Source
  KAKENHI-PROJECT-22K16233
[Presentation] Underlying Genetic Causes of Adult Patients With ESKD Undergoing Hemodialysis Therapy.2022
- Author(s)
  Fujimaru T, Mori T, Chiga M, Mandai S, Ando F, Mori Y, Susa K, Nakano Y, Shoji T, Fukudome Y, Inaba N, Kitamura K, Nakanishi T, Kimura T, Tamura T, Ozawa K, Uchida S, Sohara E.
- Organizer
  American Society of Nephrology Kidney Week 2022.
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22K16233
[Presentation] ADPKD患者における遺伝学的背景や総腎容積と脳動脈瘤の関係性について.2022
- Author(s)
  関根章成, 藤丸拓也, 諏訪部達也, 水野裕基, 井上典子, 長谷川詠子, 山内真之, 田中希穂, 森崇寧, 蘇原映誠, 内田信一, 澤直樹, 乳原善文, 星野純一.
- Organizer
  第65回日本腎臓学会学術総会
- Data Source
  KAKENHI-PROJECT-22K16233
[Presentation] 腎臓学の進歩2022 慢性腎臓病に潜在する尿細管疾患.2022
- Author(s)
  蘇原映誠, 森崇寧, 藤丸拓也.
- Organizer
  第52回日本腎臓学会東部学術大会.
- Invited
- Data Source
  KAKENHI-PROJECT-22K16233
[Presentation] 遺伝子診断の臨床応用嚢胞性腎疾患ならびに遺伝性尿細管間質性腎疾患に対する遺伝子診断の実際.2022
- Author(s)
  森崇寧, 藤丸拓也, 蘇原映誠.
- Organizer
  第65回日本腎臓学会学術総会
- Invited
- Data Source
  KAKENHI-PROJECT-22K16233
[Presentation] 多発性嚢胞腎up to date 病態(総論).2022
- Author(s)
  藤丸拓也.
- Organizer
  第57回日本小児腎臓病学会学術集会.
- Invited
- Data Source
  KAKENHI-PROJECT-22K16233
[Presentation] 尿細管基底膜の厚い二重化は、成人ネフロン癆の遺伝学的診断根拠となり得る2021
- Author(s)
  藤丸拓也，蘇原映誠，川西邦夫，森崇寧，千賀宗子，萬代新太郎，安藤史顕，須佐紘一郎，飯盛聡一郎，内藤省太郎，頼建光，長田道夫，内田信一
- Organizer
  第64回日本腎臓学会学術総会
- Data Source
  KAKENHI-PROJECT-20K22926
[Presentation] PKD1遺伝子の複合ヘテロ接合性変異により胎児期発症多発性嚢胞腎を呈した症例における一次線毛の観察2021
- Author(s)
  谷口洋平, 三浦健一郎, 白井陽子, 安藤太郎, 石和翔, 金子直人, 石塚喜世伸, 秋岡祐子, 堀田茂, 原聡, 藤丸拓也, 森崇寧, 蘇原映誠, 内田信一, 山口裕, 服部元史
- Organizer
  第56回日本小児腎臓病学会学術集会
- Data Source
  KAKENHI-PROJECT-20K22926
[Presentation] ADPKD患者における遺伝子変異と心臓弁膜症の関係性2021
- Author(s)
  関根章成, 藤丸拓也, 諏訪部達也, 大庭悠貴, 水野裕基, 川田真宏, 長谷川詠子, 山内真之, 早見典子, 田中希穂, 森崇寧, 蘇原映誠, 内田信一, 澤直樹, 乳原善文, 星野純一
- Organizer
  第64回日本腎臓学会学術総会
- Data Source
  KAKENHI-PROJECT-20K22926
[Presentation] PKD2遺伝子異常に関連した常染色体優性多発性嚢胞腎に完全内臓逆位を合併した一例2021
- Author(s)
  濱野直人, 和田健彦, 藤丸拓也, 森崇寧, 蘇原映誠, 内田信一, 深川雅史
- Organizer
  第51回日本腎臓学会東部学術大会
- Data Source
  KAKENHI-PROJECT-20K22926
[Presentation] ADTKD　的確な診断と最善の治療を目指して2021
- Author(s)
  蘇原映誠, 藤丸拓也, 森崇寧, 内田信一
- Organizer
  第64回日本腎臓学会学術総会
- Invited
- Data Source
  KAKENHI-PROJECT-20K22926
[Presentation] 腎長径と腎嚢胞径は多発性嚢胞腎患者において PKD1/2 遺伝子変異の有無を予測する因子となりうる2020
- Author(s)
  大庭悠貴, 関根章成, 水野裕基, 川田真宏, 平松里佳子, 早見典子, 山内真之, 長谷川詠子, 諏訪部達也, 澤直樹, 藤丸拓也, 蘇原映誠, 森崇寧, 内田信一, 星野純一, 乳原善文
- Organizer
  第63回日本腎臓学会学術総会
- Data Source
  KAKENHI-PROJECT-20K22926
[Presentation] ADPKD 患者における、遺伝子変異型とトルバプタン治療有効性の関係2020
- Author(s)
  関根章成, 星野純一, 藤丸拓也, 水野裕基, 川田真宏, 平松里佳子, 長谷川詠子, 早見典子, 山内真之, 諏訪部達也, 澤直樹, 森崇寧, 蘇原映誠, 内田信一, 高市憲明, 乳原善文
- Organizer
  第63回日本腎臓学会学術総会
- Data Source
  KAKENHI-PROJECT-20K22926
[Presentation] Gitelman 症候群と臨床診断された成人患者の遺伝的背景と変異陰性例における表現系の検討2020
- Author(s)
  森崇寧, 千賀宗子, 藤丸拓也, 萬代新太郎, 蘇原映誠, 頼建光, 内田信一
- Organizer
  第63回日本腎臓学会学術総会
- Data Source
  KAKENHI-PROJECT-20K22926
[Presentation] 腎生検にてネフロン癆が疑われた成人症例における臨床・病理所見と遺伝的背景の関係2020
- Author(s)
  藤丸拓也, 蘇原映誠, 森崇寧, 萬代新太郎, 千賀宗子, 菊池寛昭, 安藤史顕, 森雄太郎, 岡戸丈和, 頼建光, 川西邦夫, 長田道夫, 内田信一
- Organizer
  第63回日本腎臓学会学術総会
- Data Source
  KAKENHI-PROJECT-20K22926

1. 川西邦夫

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
2. 森崇寧

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Fujimaru Takuya 藤丸 拓也

Research Projects

Research Products

Co-Researchers

Elucidation of the clinical features and pathophysiology of nephronopthisis in adult patients with chronic kidney diseasePrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Clarification of genetic background of adult patients with chronic kidney diseasePrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

[Journal Article] Genetic Diagnosis of Adult Hemodialysis Patients With Unknown Etiology2024

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Different Clinical Courses of Nephronophthisis in Dizygotic Twins2023

Author(s)

Journal Title

DOI

ISSN

Year and Date

Language

Data Source

[Journal Article] Tuberous sclerosis complicated with polycystic kidney disease in a young adolescent with decreased renal function but without abnormalities in <i>TSC2</i>, <i>PKD1</i>, and <i>PKD2</i> genes2023

Author(s)

Journal Title

DOI

ISSN

Language

Data Source

[Journal Article] 特集 CKD患者を診たら-最近のCKD診療の知見とその活かし方 トピックス CKDに潜む遺伝性腎疾患2021

Author(s)

Journal Title

DOI

ISSN

Year and Date

Data Source

[Journal Article] novel LMX1B variant identified in a patient presenting with severe renal involvement and thin glomerular basement membrane2021

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Echocardiographic Findings and Genotypes in Autosomal Dominant Polycystic Kidney Disease2021

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Genetic Background and Clinicopathologic Features of Adult-onset Nephronophthisis2021

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Genetics May Predict Effectiveness of Tolvaptan in Autosomal Dominant Polycystic Kidney Disease2020

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Phenotypic differences of mutation‐negative cases in Gitelman syndrome clinically diagnosed in adulthood2020

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Copy Number Variation: A?New Genetic Form of?Polycystic Kidney and Liver Disease2020

Author(s)

Journal Title

DOI

Data Source

[Presentation] Discovery of a Novel Candidate Gene Implicated in X-Linked Polycystic Kidney Disease2023

Author(s)

Organizer

Data Source

[Presentation] IFT140のヘテロ接合性変異は家族歴のない成人多発性腎嚢胞の一因である2023

Author(s)

Organizer

Fujimaru Takuya 藤丸拓也

[Journal Article] 特集 CKD患者を診たら-最近のCKD診療の知見とその活かし方トピックス CKDに潜む遺伝性腎疾患2021

[Presentation] 遺伝子診断の臨床応用嚢胞性腎疾患ならびに遺伝性尿細管間質性腎疾患に対する遺伝子診断の実際.2022

[Presentation] ADTKD　的確な診断と最善の治療を目指して2021

[Presentation] 腎長径と腎嚢胞径は多発性嚢胞腎患者において PKD1/2 遺伝子変異の有無を予測する因子となりうる2020

[Presentation] ADPKD 患者における、遺伝子変異型とトルバプタン治療有効性の関係2020

[Presentation] Gitelman 症候群と臨床診断された成人患者の遺伝的背景と変異陰性例における表現系の検討2020

[Presentation] 腎生検にてネフロン癆が疑われた成人症例における臨床・病理所見と遺伝的背景の関係2020