Sasaki Ayako 佐々木綾子

… Alternative Names

SASAKI Ayako 佐々木綾子

Less

Researcher Number	60333960
Affiliation (based on the past Project Information) *help	2015 – 2020: 山形大学, 医学部, 准教授 2013 – 2014: 山形大学, 医学部, 講師 2009 – 2011: Yamagata University, 医学部, 講師 2007: Yamagata University, School of Medicine, Assistant Professor 2004 – 2006: 山形大学, 医学部, 助手
Review Section/Research Field	Principal Investigator Embryonic/Neonatal medicine / Pediatrics Except Principal Investigator Pediatrics
Keywords	Principal Investigator 先天性中枢性低換気症候群 / PHOX2B / PHOX2B遺伝子 / アラニン伸長変異 / ポリアラニン伸長変異 / 遺伝子診断 / 不等姉妹染色分体交換 / late-onset central hypoventilation syndrome / ポリアラニン伸長 / ポニアラニン伸長 / 先天性中枢性肺胞低換気症候群 … More Except Principal Investigator … More MLPA / DHPLC / CMT1A / hereditary neuropath / Charcot-Marie-Tooth disease / Nav1.6 / PRX / 抹消神経 / 遺伝子欠失 / 髄鞘 / 軸索 / MPLA / 遺伝性ニューロパチー / Charcot-Marie-Tooth病 Less

Towards a treatment for congenital central hypoventilation syndrome based on the pathophysiologyPrincipal Investigator
- Principal Investigator
  
  Sasaki Ayako
- Project Period (FY)
  2017 – 2020
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Embryonic/Neonatal medicine
- Research Institution
  Yamagata University
Pathophysiology of congenital central hypoventilation syndromePrincipal Investigator
- Principal Investigator
  
  Sasaki Ayako
- Project Period (FY)
  2013 – 2016
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Embryonic/Neonatal medicine
- Research Institution
  Yamagata University
Molecular basis of congenital central hypoventilation syndrome : PHOX2B mutation and its haplotypesPrincipal Investigator
- Principal Investigator
  
  SASAKI Ayako
- Project Period (FY)
  2009 – 2011
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Embryonic/Neonatal medicine
- Research Institution
  Yamagata University
先天性中枢性低換気症候群の病態解明Principal Investigator
- Principal Investigator
  
  佐々木綾子
- Project Period (FY)
  2006 – 2007
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  Yamagata University
Research and treatment of hereditary neuropathy
- Principal Investigator
  
  HAYASAKA Kiyoshi
- Project Period (FY)
  2006 – 2007
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Yamagata University
先天性中枢性肺胞低換気症候群の病態解明Principal Investigator
- Principal Investigator
  
  佐々木綾子
- Project Period (FY)
  2004 – 2005
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  Yamagata University

All 2021 2020 2019 2018 2017 2016 2014 2012 2011 2010 2007 2005

All Journal Article Presentation

[Journal Article] Adult cases of late-onset congenital central hypoventilation syndrome and paired-like homeobox 2B-mutation carriers: an additional case report and pooled analysis2020
- Author(s)
  Hino Aoi、Terada Jiro、Kasai Hajime、Shojima Hikaru、Ohgino Keiko、Sasaki Ayako、Hayasaka Kiyoshi、Tatsumi Koichiro
- Journal Title
  
  Journal of Clinical Sleep Medicine
  
  Volume: 16 Issue: 11 Pages: 1891-1900
- DOI
  10.5664/jcsm.8732
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10171
[Journal Article] 呼吸生理学的に軽症と診断した先天性中枢性肺胞低換気症候群　非ポリアラニン伸長変異2020
- Author(s)
  山田恵、大森さゆ、山田洋輔、長谷川久弥、佐々木綾子、早坂清、佐藤清二
- Journal Title
  
  日本小児科学会誌
  
  Volume: 124 Pages: 1509-1513
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10171
[Journal Article] 難病研究の進歩】呼吸器　先天性中枢性低換気症候群2020
- Author(s)
  佐々木綾子、早坂清
- Journal Title
  
  生体の科学
  
  Volume: 71 Pages: 454-455
- Data Source
  KAKENHI-PROJECT-17K10171
[Journal Article] Novel PHOX2B mutation in congenital central hypoventilation syndrome.2019
- Author(s)
  Sasaki A, Kisikawa Y, Imaji R, Fukushima Y, Nakamura Y, Nishimura Y, Yamada M, Mino Y, Mitsui T, Hayasaka K.
- Journal Title
  
  Pediatr International
  
  Volume: 61 Issue: 4 Pages: 393-396
- DOI
  10.1111/ped.13812
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10171
[Journal Article] Hirschsprung病類縁疾患を合併した先天性中枢性低換気症候群の新生児例と本邦既報例の比較検討2019
- Author(s)
  藤代定志、大橋　敦、田中裕香、平林雅人、峰　研治、土井　崇、佐々木綾子、金子一成
- Journal Title
  
  日本小児科学会雑誌
  
  Volume: 123 Pages: 1248-1254
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10171
[Journal Article] Genetic Diagnosis and Characteristics of CCHS in Japan.2019
- Author(s)
  Sasaki A, Hayasaka K.
- Journal Title
  
  Pediatric Pulmonology
  
  Volume: 54
- Data Source
  KAKENHI-PROJECT-17K10171
[Journal Article] 先天性中枢性低換気症候群 (CCHS) を合併したmacrocephaly capillary malformation (M-CM) 症候群の1例2018
- Author(s)
  兵頭勇紀, 竹内章人, 山田洋輔, 長谷川久弥, 佐々木綾子, 早坂清, 森本大作, 玉井圭, 森茂弘, 中村和恵, 中村信, 影山操
- Journal Title
  
  日本新生児成育医学会雑誌
  
  Volume: 30 Pages: 73-78
- NAID
  40021505684
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10171
[Journal Article] A novel PHOX2B gene mutation in an extremely low birth weight infant with congenital central hypoventilation syndrome and variant Hirschsprung's disease2018
- Author(s)
  Miura Yuichiro、Watanabe Tatsuya、Uchida Toshihiko、Nawa Tatsuro、Endo Naobumi、Fukuzawa Taichi、Ohkubo Ryuji、Takeyama Junji、Sasaki Ayako、Hayasaka Kiyoshi
- Journal Title
  
  European Journal of Medical Genetics
  
  Volume: - Issue: 9 Pages: 103541-103541
- DOI
  10.1016/j.ejmg.2018.09.008
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10171
[Journal Article] 日本における先天性中枢性低換気症候群の発達予後2018
- Author(s)
  佐々木綾子, 三井哲夫, 早坂清
- Journal Title
  
  日本小児呼吸器学会雑誌
  
  Volume: 29 Pages: 146-152
- NAID
  40021801866
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10171
[Journal Article] 先天性中枢性低換気症候群2014
- Author(s)
  早坂清、佐々木綾子、岸川由美子
- Journal Title
  
  周産期医学
  
  Volume: 44 Pages: 255-257
- Data Source
  KAKENHI-PROJECT-25461640
[Journal Article] 先天性中枢性低換気症候群の現況と展望2014
- Author(s)
  早坂清、佐々木綾子
- Journal Title
  
  日本臨床
  
  Volume: 72 Pages: 363-370
- NAID
  40019951635
- Data Source
  KAKENHI-PROJECT-25461640
[Journal Article] A case of congenital central hypoventilation syndrome with a novel mutation of the PHOX2B gene presenting as central sleep apnea2014
- Author(s)
  Amimoto Y, Okada K, Nakano H, Sasaki A, Hayasaka K, Odajima H
- Journal Title
  
  J Clin Sleep Med
  
  Volume: 10 Issue: 03 Pages: 327-329
- DOI
  10.5664/jcsm.3542
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-25461640
[Journal Article] Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome2012
- Author(s)
  Meguro T, Yoshida Y, Hayashi M, Toyota K, Otagiri T, Mochizuki N, Kishikawa Y, Sasaki A, Hayasaka K
- Journal Title
  
  J.Hum Genet
  
  Volume: 22(In Press)
- NAID
  10030663222
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591411
[Journal Article] Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome2012
- Author(s)
  Meguro T, Yoshida Y, Hayashi M, Toyota K, Otagiri T, Mochizuki N, Kishikawa Y, Sasaki A, Hayasaka K.
- Journal Title
  
  J Hum Genet
  
  Volume: 22(in press) Issue: 5 Pages: 335-337
- DOI
  10.1038/jhg.2012.27
- NAID
  10030663222
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591411
[Journal Article] 先天性中枢性低換気症候群におけるPHOX2B遺伝子異常について2011
- Author(s)
  早坂清, 荒井博子, 吉田悠紀, 小田切徹州, 佐々木綾子
- Journal Title
  
  日本小児科学会雑誌
  
  Volume: 115 Pages: 769-776
- NAID
  10029385399
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591411
[Journal Article] Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome : rs17884724:A>C is associated with 7-alanine expansion.2010
- Author(s)
  Arai H, Otagiri T, Sasaki A, Umetsu K, Hayasaka K
- Journal Title
  
  J Hum Genet 55
  
  Pages: 4-7
- NAID
  10030733021
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591411
[Journal Article] Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome : rs17884724 : A>C is associated with seven-alanine expansion2010
- Author(s)
  Arai H, Otagiri T, Sasaki A, Umetsu K, Hayasaka K.
- Journal Title
  
  J. Hum. Genet
  
  Volume: 55 Pages: 4-7
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591411
[Journal Article] De novo polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome:unequal sister chromatid exchange during paternal gametogenesis2007
- Author(s)
  Hiroko, Arai, Tesshu, Otagiri, Ayako, Sasaki, Taeko, Hashimoto, Kazuo, Umetsu, Katsushi, Tokunaga, Kiyoshi, Hayasaka
- Journal Title
  
  J Hum Genet 52
  
  Pages: 921-925
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18790700
[Journal Article] 先天性中枢性低換気症候群の遺伝子異常と病態-最近解明された先天性中枢性低換気症候群の遺伝子異常についてー2007
- Author(s)
  佐々木, 綾子・早坂, 清
- Journal Title
  
  周産期医学 37
  
  Pages: 863-866
- Data Source
  KAKENHI-PROJECT-18790700
[Journal Article] Sensitive detection of polyalanine expansions in PHOX2B by polymerase chain reaction using bisulfite-converted DNA.2005
- Author(s)
  Horiuchi H, Sasaki A, et al.
- Journal Title
  
  J Mol Diagn. 7(5)
  
  Pages: 638-640
- Data Source
  KAKENHI-PROJECT-16790566
[Presentation] CCHSにおける遺伝子診断・症状・合併症2021
- Author(s)
  佐々木綾子
- Organizer
  日本呼吸ケア・リハビリテーション学会
- Data Source
  KAKENHI-PROJECT-17K10171
[Presentation] Genetic Diagnosis and Characteristics of Congenital Central Hypoventilation Syndrome in Japan2019
- Author(s)
  Ayako Sasaki, Kiyoshi Hayasaka.
- Organizer
  CIPP ⅩⅧ
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10171
[Presentation] 出生後に遺伝子検査にて中枢性低換気症候群と診断された羊水過多症の1例2018
- Author(s)
  森美妃, 加藤宏章, 阿南春分, 上野繁, 池田朋子, 阿部恵美子, 近藤裕司, 越智博, 依岡壮一郎, 海老原知博井上博晴, 長友太郎, 穐吉眞之介, 佐々木綾子
- Organizer
  第54回日本周産期・新生児医学会総会
- Data Source
  KAKENHI-PROJECT-17K10171
[Presentation] 日本における先天性中枢性低換気症候群の発達予後について.2017
- Author(s)
  佐々木綾子
- Organizer
  第62回日本新生児成育医学会・学術集会
- Data Source
  KAKENHI-PROJECT-17K10171
[Presentation] 日本における先天性中枢性低換気症候群について：疫学および遺伝子型と臨床型の関係2016
- Author(s)
  早坂清,下風朋章，佐々木綾子，目黒亨，長谷川久弥，平工由香，吉川哲史
- Organizer
  第119回日本小児科学会学術集会
- Place of Presentation
  ロイトン　札幌　札幌
- Year and Date
  2016-05-13
- Data Source
  KAKENHI-PROJECT-25461640
[Presentation] 先天性中枢性低換気症候群における神経学的予後について.2016
- Author(s)
  佐々木綾子，下風朋章，三井哲夫，早坂　清
- Organizer
  第61回日本新生児成育医学会・学術集会
- Place of Presentation
  大阪国際会議場　大阪
- Year and Date
  2016-12-01
- Data Source
  KAKENHI-PROJECT-25461640
[Presentation] 先天性中枢低換気症気群におけるPHOX2B遺伝子異常と臨床像の比較検討2007
- Author(s)
  佐々木綾子
- Organizer
  第110回日本小児科学会学術集会
- Place of Presentation
  京都
- Year and Date
  2007-04-20
- Data Source
  KAKENHI-PROJECT-18790700

1. HAYASAKA Kiyoshi (20142961)

# of Collaborated Projects: 4 results

# of Collaborated Products: 19 results
2. ODAGIRI Tesshu (30400550)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
3. KISHIKAWA Yumiko

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results

Sasaki Ayako 佐々木 綾子

SASAKI Ayako 佐々木 綾子

Research Projects

Research Products

Co-Researchers

Towards a treatment for congenital central hypoventilation syndrome based on the pathophysiologyPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Pathophysiology of congenital central hypoventilation syndromePrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Molecular basis of congenital central hypoventilation syndrome : PHOX2B mutation and its haplotypesPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

先天性中枢性低換気症候群の病態解明Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Research and treatment of hereditary neuropathy

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

先天性中枢性肺胞低換気症候群の病態解明Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

[Journal Article] Adult cases of late-onset congenital central hypoventilation syndrome and paired-like homeobox 2B-mutation carriers: an additional case report and pooled analysis2020

Author(s)

Journal Title

DOI

Data Source

[Journal Article] 呼吸生理学的に軽症と診断した先天性中枢性肺胞低換気症候群 非ポリアラニン伸長変異2020

Author(s)

Journal Title

Data Source

[Journal Article] 難病研究の進歩】呼吸器 先天性中枢性低換気症候群2020

Author(s)

Journal Title

Data Source

[Journal Article] Novel PHOX2B mutation in congenital central hypoventilation syndrome.2019

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Hirschsprung病類縁疾患を合併した先天性中枢性低換気症候群の新生児例と本邦既報例の比較検討2019

Author(s)

Journal Title

Data Source

[Journal Article] Genetic Diagnosis and Characteristics of CCHS in Japan.2019

Author(s)

Journal Title

Data Source

[Journal Article] 先天性中枢性低換気症候群 (CCHS) を合併したmacrocephaly capillary malformation (M-CM) 症候群の1例2018

Author(s)

Journal Title

NAID

Data Source

[Journal Article] A novel PHOX2B gene mutation in an extremely low birth weight infant with congenital central hypoventilation syndrome and variant Hirschsprung's disease2018

Author(s)

Journal Title

DOI

Data Source

[Journal Article] 日本における先天性中枢性低換気症候群の発達予後2018

Author(s)

Journal Title

Sasaki Ayako 佐々木綾子

SASAKI Ayako 佐々木綾子

[Journal Article] 呼吸生理学的に軽症と診断した先天性中枢性肺胞低換気症候群　非ポリアラニン伸長変異2020

[Journal Article] 難病研究の進歩】呼吸器　先天性中枢性低換気症候群2020