Mizuno Seiji 水野誠司

… Alternative Names

水野誠司ミズノセイジ

MIZUNO Seiji 水野誠司

Less

Researcher Number	20393150
Other IDs
Affiliation (Current)	2025: 愛知県医療療育総合センター発達障害研究所, 遺伝子医療研究部, 客員研究員
Affiliation (based on the past Project Information) *help	2019 – 2020: 愛知県医療療育総合センター発達障害研究所, 遺伝子医療研究部, 非常勤研究員 2018: 愛知県心身障害者コロニー発達障害研究所, 遺伝学部, 非常勤研究員 2012: 愛知県心身障害者コロニー発達障害研究所, 遺伝学部, 研究員 2008 – 2010: 愛知県心身障害者コロニー発達障害研究所, 小児内科, 研究員
Review Section/Research Field	Except Principal Investigator Basic Section 46010:Neuroscience-general-related / Pediatrics / Embryonic/Neonatal medicine
Keywords	Except Principal Investigator 神経幹細胞 / 発達障がい / 神経分化 / 15q11-13 / iPS細胞 / Marf1 / iPS 細胞 / 16p13.11 / sMarf1 / 神経新生 … More / Sandhoff病 / ノックインマウス / 精神遅滞 / 遺伝子改変マウス / 重度精神遅滞 / 疾患モデルマウス / SLC19A3 / PLEKHA5 / 病因遺伝子 / 重度知的障害 / 小児神経学 / 潜在性異常 / 奇形症候群 / アレイCGH法 / 染色体異常 / 先天異常 Less

The elucidation of neurogenesis mechanism by novel RNA binding protein Marf1, related with 16p13.11 duplication syndrome
- Principal Investigator
  
  Fujitani Masashi
- Project Period (FY)
  2018 – 2020
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 46010:Neuroscience-general-related
- Research Institution
  Shimane University
The pathogenic mechanisms of severe intellectual disabiIity caused by PLEKHA5 or SLC19A3 mutations studied using mouse models of the diseases.
- Principal Investigator
  
  WAKAMATSU Nobuaki
- Project Period (FY)
  2009 – 2012
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Pediatrics
- Research Institution
  Institute for Developmental Research, Aichi Human Service Center
New diagnostic approach for malformation syndromes and genome-wide search for syndrome specific genome imbalance using DNA microarray
- Principal Investigator
  
  MAKITA Yoshio
- Project Period (FY)
  2008 – 2010
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Embryonic/Neonatal medicine
- Research Institution
  Asahikawa Medical College

All 2012 2011 2010 2009 2008

All Journal Article Presentation Book

[Book] Aneuploidy and intellectual disability, in Aneuploidy in Health and Disease, Storchova Z ed, InTech-Open Access Publisher2012
- Author(s)
  Fukushi D, Mizuno S, Yamada K, Kimura R, Yamada Y, Kumagai T, Wakamatsu N
- Publisher
  Rijeka, Croatia
- Data Source
  KAKENHI-PROJECT-21390319
[Journal Article] MBTPS2 mutation causes BRESEK/BRESHECK syndrome.2012
- Author(s)
  Naiki M, Mizuno S, Yamada K, Yamada Y, Kimura R, Oshiro M, Okamoto N, Makita Y, Seishima M, Wakamatsu N
- Journal Title
  
  Am J Med Genet A
  
  Volume: 158A Issue: 1 Pages: 97-102
- DOI
  10.1002/ajmg.a.34373
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21390319, KAKENHI-PROJECT-22591270, KAKENHI-PROJECT-23592636, KAKENHI-PROJECT-24590185
[Journal Article] Clinical and genomic characterization of sibling with a distal duplication of chromosome 9q [9q34.1-qter].2011
- Author(s)
  Mizuno S, Fukushi D, Kimura R, Yamada K, Yamada Y, Kumagai T, Wakamatsu N
- Journal Title
  
  Am J Med Genet A
  
  Volume: 155A Issue: 9 Pages: 2274-2280
- DOI
  10.1002/ajmg.a.34160
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21390319, KAKENHI-PROJECT-22591270
[Journal Article] Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies.2011
- Author(s)
  Hayashi S, Imoto I, Aizu Y, Okamoto N, Mizuno S, Kurosawa K, Honda S, Araki S, Mizutani S, Numabe H, Saitoh S, Kosho T, Fukushima Y, Mitsubuchi H, Endo F, Chinen Y, Kosaki R, Okuyama T, Ohki H, Yoshihashi H, Ono M, Takada F, Ono H, Yagi M, Matsumoto H, Makita Y, Hata A, Inazawa J.
- Journal Title
  
  J Hum Genet. 56(2)
  
  Pages: 110-24
- NAID
  10030657707
- Data Source
  KAKENHI-PROJECT-20390301
[Journal Article] Characterization of a de novo balanced t(4;20)(q33;q12)translocation in a patient with mental retardation.2010
- Author(s)
  Yamada K, Fukushi D, Ono T, Kondo Y, Kimura R, Nomura N, Kosaki K, Yamada Y, Mizuno S, Wakamatsu N
- Journal Title
  
  Am J Med Genet, A
  
  Volume: 152A Pages: 3057-3057
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21390319
[Journal Article] Characterization of a de novo balanced t(4;20)(q33;ql2) translocation in a patient with mental retardation.2010
- Author(s)
  Yamada K, Fukushi D, Ono T, Kondo Y, Kimura R, Nomura N, Kosaki K, Yamada Y, Mizuno S, Wakamatsu N
- Journal Title
  
  Am JMed Genet A
  
  Volume: 152A Issue: 12 Pages: 3057-3057
- DOI
  10.1002/ajmg.a.33174
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21390319, KAKENHI-PROJECT-22591270
[Journal Article] The CASK gene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation.2008
- Author(s)
  Hayashi S, Mizuno S, Migita O, Okuyama T, Makita Y, Hata A, Imoto I, Inazawa J.
- Journal Title
  
  Am J Med Genet A. 146A(16)
  
  Pages: 2145-51
- Data Source
  KAKENHI-PROJECT-20390301
[Presentation] 異数性が見られる未知の知的障害の細胞遺伝学的解析.2012
- Author(s)
  福士大輔, 木村礼子, 山田憲一郎, 福原弥生, 内木美紗子, 石原尚子, 水野誠司, 熊谷俊幸, 山田裕一, 若松延昭
- Organizer
  (財)染色体学会
- Place of Presentation
  旭川
- Year and Date
  2012-10-06
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] BRESEK/BRESHECK症候群の原因遺伝子(MBTPS2)の脳発達における機能解析2012
- Author(s)
  山田憲一郎, 福原弥生, 水野誠司, 内木美沙子, 木村礼子, 山田裕一, 中西圭子, 若松延昭
- Organizer
  日本生化学会大会
- Place of Presentation
  福岡
- Year and Date
  2012-12-16
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] BRESEK/BRESHECK syndrome and IFAP syndrome are allelic disorder caused by mutation in MBTPS2.2012
- Author(s)
  Mizuno S
- Organizer
  European Human Genetics Conference 2012
- Place of Presentation
  Nuremberg Convention Center Ost (Nuremberg, Germany)
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] Mowat-Wilson症候群の原因となる新たなZEB2遺伝子変異2012
- Author(s)
  山田裕一, 山田憲一郎, 福原弥生, 木村礼子, 福士大輔, 水野誠司, 黒澤健司, 岡本伸彦, 若松延昭
- Organizer
  日本人類遺伝学会
- Place of Presentation
  東京
- Year and Date
  2012-10-26
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] BRESEK/BRESHECK syndrome and IFAP syndrome are allelic disorder caused by mutation in MBTPS2.2012
- Author(s)
  Mizuno S, Naiki M, Yamada K, Yamada Y, Kimura R, Oshiro M, Okamoto N, Makita Y, Seishima M, Wakamatsu N
- Organizer
  European Human Genetics Conference 2012
- Place of Presentation
  Niirnberg, Germany
- Year and Date
  2012-06-24
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] Mowat一Wilson症候群の原因となる新たなZEB2遺伝子変異2012
- Author(s)
  山田裕一, 山田憲一郎, 福原弥生, 木村礼子, 福士大輔, 水野誠司, 黒澤健司, 岡本伸彦, 若松延昭
- Organizer
  日本生化学会大会
- Place of Presentation
  福岡
- Year and Date
  2012-12-16
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] Molecular analysis of ZEB2 responsible for the Mowat-Wilson syndrome.2011
- Author(s)
  Yamada Y, Yamada K, Mizuno S, Nishi E, Ishihara N, Akimaru N, Urano M, Matsuda K, Okamoto N, Hiraki Y4, Wakamatsu N
- Organizer
  International Congress of Human Genetics and Annual Meeting of the American Society of Human Genetics
- Place of Presentation
  Montreal, Canada
- Year and Date
  2011-10-13
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] Mowat-Wilson症候群におけるZEB2遺伝子解析2011
- Author(s)
  山田裕一, 山田憲一郎, 水野誠司, 西恵理子, 石原尚子, 今高城治, 鈴木由香, 鮫島希代子, 秋丸憲子, 松田圭子, 岡本伸彦, 平木洋子, 若松延昭
- Organizer
  日本人類遺伝学会/東アジア人類遺伝学会共同大会
- Place of Presentation
  千葉
- Year and Date
  2011-11-10
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] Mowat-Wilson症候群の耳介形態2011
- Author(s)
  水野誠司, 西恵理子, 村松友佳子, 若松延昭
- Organizer
  日本先天異常学会学術集会
- Place of Presentation
  東京
- Year and Date
  2011-07-22
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] 9q32欠失の2例-ゲシュタルトで認識可能な症候群の可能性2010
- Author(s)
  水野誠司, 西恵理子, 村松友佳子, 谷合弘子, 若松延昭
- Organizer
  日本人類遺伝学会
- Place of Presentation
  さいたま
- Year and Date
  2010-10-28
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] Novel mutations of ZFHX1B responsible for the typical cases of Mowat-Wilson syndrome.2010
- Author(s)
  YamadaY, Yamada K, Mizuno S, Furuya N, Matsuo M, Urano M, Hiraki Y, Kurosawa K, Saito K, Wakamatsu N
- Organizer
  Annual Meeting of the American Society of Human Genetics
- Place of Presentation
  Washington DC, USA
- Year and Date
  2010-11-05
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] Ectodermal dysplasia, vertebral anomaly, Hirschsprung disease, growth and mental retardation : a clinical report of a boy with BRESEK syndrome.2010
- Author(s)
  Mizuno S, Oshiro M, Seishima M, Okamoto N, Makita Y, Wakamatsu N
- Organizer
  Annual Meeting of the American Society of Human Genetics
- Place of Presentation
  Washington DC, USA
- Year and Date
  2010-11-04
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] Novel mutations of ZFHX1B responsible for the typical cases of Mowat-Wilson syndrome.2010
- Author(s)
  Yamada Y, Yamada K, Mizuno S, Furuya N, Matsuo M, Urano M, Hiraki Y, Kurosawa K, Saito K, Wakamatsu N
- Organizer
  Annual Meeting of the American Society of Human Genetics
- Place of Presentation
  Washington DC
- Year and Date
  2010-11-05
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] Mowat-Wilson症候群典型例におけるZFHX1B遺伝子変異2010
- Author(s)
  山田裕一, 山田憲一郎, 水野誠司, 古谷憲孝, 松尾真理, 浦野真理, 平木洋子, 黒澤健司, 斎藤加代子, 若松延昭
- Organizer
  日本人類遺伝学会
- Place of Presentation
  さいたま
- Year and Date
  2010-10-28
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] Mowat-Wilson症候群典型例におけるZFHXIB遺伝子変異2010
- Author(s)
  山田裕一, 山田憲一郎, 水野誠司, 古谷憲孝, 松尾真理, 浦野真理, 平木洋子, 黒澤健司, 斎藤加代子, 若松延昭
- Organizer
  日本人類遺伝学会
- Place of Presentation
  さいたま
- Year and Date
  2010-10-28
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] Ectodermal dysplasia, vertebral anomaly, Hirschsprung disease, growth and mental retardation : a clinical report of a boy with BRESEK syndrome.2010
- Author(s)
  Mizuno S, Oshiro M, Seishima M, Okamoto N, Makita Y, Wakamatsu N
- Organizer
  Annual Meeting of the American Society of Human Genetics
- Place of Presentation
  Washington DC
- Year and Date
  2010-11-04
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] Mowat-Wilson症候群典型例にみられた新しいZFHX1B遺伝子変異2010
- Author(s)
  山田裕一, 山田憲一郎, 水野誠司, 古谷憲孝, 松尾真理, 浦野真理, 平木洋子, 秋丸憲子, 松田圭子, 岡本伸彦, 黒澤健司, 斎藤加代子, 若松延超
- Organizer
  日本生化学会日本分子生物学会合同大会
- Place of Presentation
  神戸
- Year and Date
  2010-12-10
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] ダウン症候群小児における血清尿酸値の検討2010
- Author(s)
  村松友佳子, 西恵理子, 谷合弘子, 山田裕一, 若松延昭, 久保田優, 水野誠司
- Organizer
  日本小児遺伝学会学術集会
- Place of Presentation
  盛岡
- Year and Date
  2010-04-22
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] Mowat-Wilson症候群典型例にみられた新しいZFHXIB遺伝子変異2010
- Author(s)
  山田裕一, 山田憲一郎, 水野誠司, 古谷憲孝, 松尾真理, 浦野真理, 平木洋子, 秋丸憲子, 松田圭子, 岡本伸彦, 黒澤健司, 斎藤加代子, 若松延昭
- Organizer
  日本生化学会日本分子生物学会合同大会
- Place of Presentation
  東京
- Year and Date
  2010-12-10
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] 小頭症と小脳脳幹部低形成を伴う発達遅滞12例におけるCASK遺伝子の解析2009
- Author(s)
  林深、岡本伸彦、水野誠司、小野正恵、小崎里華、奥山虎之、知念安紹、蒔田芳男、羽田明、井本逸勢、稲澤譲治
- Organizer
  第54回日本人類遺伝学会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-20390301
[Presentation] 小頭症と小脳脳幹部低形成を伴う発達遅滞の原因遺伝子の候補であるCASKの解析2009
- Author(s)
  林深、岡本伸彦、水野誠司、小野正恵、小崎里華、奥山虎之、知念安紹、蒔田芳男、羽田明、井本逸勢、稲澤譲治
- Organizer
  第51回日本小児神経学会総会
- Place of Presentation
  米子
- Data Source
  KAKENHI-PROJECT-20390301
[Presentation] ゲノムアレイを用いた精神遅滞の診断プラットフォームの開発2009
- Author(s)
  蒔田芳男、斉藤伸治、羽田明、吉橋博史、黒澤健司、小崎里華、小野正恵、沼部博直、水野誠司、福嶋義光、岡本伸彦、三渕浩、知念安紹、林深、井本逸勢、稲澤譲治
- Organizer
  第112回日本小児科学会学術集会
- Place of Presentation
  奈良
- Data Source
  KAKENHI-PROJECT-20390301
[Presentation] 新規症候群の可能性のある10q24微細欠失を伴う2症例の報告2009
- Author(s)
  岡本奈那、林深、黒澤健司、水野誠司、蒔田芳男、羽田明、井本逸勢、森山啓司、稲澤譲治
- Organizer
  第54回日本人類遺伝学会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-20390301
[Presentation] ゲノムアレイを用いた先天異常症の効率的診断法の確立と疾患特異的構造異常の探索2008
- Author(s)
  蒔田芳男、斉藤伸治、羽田明、石井拓麿、吉橋博史、黒澤健司、小崎里華、小野正恵、沼部博直、水野誠司、古庄知己、福嶋義光、岡本伸彦、三渕浩、知念安紹、林深、井本逸勢、稲澤譲治
- Organizer
  第53回日本人類遺伝学会
- Place of Presentation
  横浜
- Data Source
  KAKENHI-PROJECT-20390301
[Presentation] ゲノムアレイを用いた先天異常症の効率的診断法の確立と疾患特異的構造異常の探索2008
- Author(s)
  蒔田芳男、藤枝憲二、斉藤伸治、羽田明、石井拓麿、吉橋博史、黒澤健司、小崎里華、小野正恵、沼部博直、水野誠司、古庄知己、福嶋義光、岡本伸彦、三渕浩、知念安紹、林深、井本逸勢、稲澤譲治
- Organizer
  第111回日本小児科学会学術集会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-20390301

1. MAKITA Yoshio (20271778)

# of Collaborated Projects: 1 results

# of Collaborated Products: 8 results
2. OKAMOTO Nobuhiko (30416242)

# of Collaborated Projects: 1 results

# of Collaborated Products: 7 results
3. HATA Akira (00244541)

# of Collaborated Projects: 1 results

# of Collaborated Products: 8 results
4. INAZAWA Johji (30193551)

# of Collaborated Projects: 1 results

# of Collaborated Products: 8 results
5. WAKAMATSU Nobuaki (60274198)

# of Collaborated Projects: 1 results

# of Collaborated Products: 23 results
6. YAMADA Yasukazu (70191343)

# of Collaborated Projects: 1 results

# of Collaborated Products: 19 results
7. YAMADA Kenichiro (30291173)

# of Collaborated Projects: 1 results

# of Collaborated Products: 19 results
8. Fujitani Masashi (40376372)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
9. 斎藤潤 (90535486)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results

Mizuno Seiji 水野 誠司

水野 誠司 ミズノ セイジ

MIZUNO Seiji 水野 誠司

Research Projects

Research Products

Co-Researchers

The elucidation of neurogenesis mechanism by novel RNA binding protein Marf1, related with 16p13.11 duplication syndrome

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

The pathogenic mechanisms of severe intellectual disabiIity caused by PLEKHA5 or SLC19A3 mutations studied using mouse models of the diseases.

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

New diagnostic approach for malformation syndromes and genome-wide search for syndrome specific genome imbalance using DNA microarray

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

[Book] Aneuploidy and intellectual disability, in Aneuploidy in Health and Disease, Storchova Z ed, InTech-Open Access Publisher2012

Author(s)

Publisher

Data Source

[Journal Article] MBTPS2 mutation causes BRESEK/BRESHECK syndrome.2012

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Clinical and genomic characterization of sibling with a distal duplication of chromosome 9q [9q34.1-qter].2011

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies.2011

Author(s)

Journal Title

NAID

Data Source

[Journal Article] Characterization of a de novo balanced t(4;20)(q33;q12)translocation in a patient with mental retardation.2010

Author(s)

Journal Title

Data Source

[Journal Article] Characterization of a de novo balanced t(4;20)(q33;ql2) translocation in a patient with mental retardation.2010

Author(s)

Journal Title

DOI

Data Source

[Journal Article] The CASK gene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation.2008

Author(s)

Journal Title

Data Source

[Presentation] 異数性が見られる未知の知的障害の細胞遺伝学的解析.2012

Author(s)

Organizer

Place of Presentation

Year and Date

Data Source

[Presentation] BRESEK/BRESHECK症候群の原因遺伝子(MBTPS2)の脳発達における機能解析2012

Author(s)

Organizer

Place of Presentation

Year and Date

Data Source

[Presentation] BRESEK/BRESHECK syndrome and IFAP syndrome are allelic disorder caused by mutation in MBTPS2.2012

Author(s)

Organizer

Place of Presentation

Data Source

[Presentation] Mowat-Wilson症候群の原因となる新たなZEB2遺伝子変異2012

Author(s)

Organizer

Place of Presentation

Year and Date

Data Source

[Presentation] BRESEK/BRESHECK syndrome and IFAP syndrome are allelic disorder caused by mutation in MBTPS2.2012

Mizuno Seiji 水野誠司

水野誠司ミズノセイジ

MIZUNO Seiji 水野誠司