SUZUKI Erina 鈴木江莉奈

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Suzuki Erina 鈴木江莉奈

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Researcher Number	60726785
Other IDs
Affiliation (Current)	2025: 国立研究開発法人国立成育医療研究センター, 分子内分泌研究部, (非)研究員
Affiliation (based on the past Project Information) *help	2018 – 2021: 国立研究開発法人国立成育医療研究センター, 分子内分泌研究部, (非)研究員 2016: 国立研究開発法人国立成育医療研究センター, 分子内分泌研究部, (非)研究員 2015: 国立研究開発法人国立成育医療研究センター, その他部局等, 研究員
Review Section/Research Field	Principal Investigator Basic Section 54040:Metabolism and endocrinology-related / Endocrinology
Keywords	Principal Investigator エクソーム解析 / DNAメチル化解析 / NDNF遺伝子 / エピゲノム / MKRN3遺伝子 / エピジェネティクス / エピジェネティック / 疾患 / 遺伝子 / 染色体異常 / 変異 / アレイCGH / 次世代シークエンサー

網羅的遺伝子・エピゲノム解析による性成熟疾患の病因の解明Principal Investigator
- Principal Investigator
  
  鈴木江莉奈
- Project Period (FY)
  2020 – 2021
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 54040:Metabolism and endocrinology-related
- Research Institution
  National Center for Child Health and Development
Epigenetic analysis in patients with pubertal disorders.Principal Investigator
- Principal Investigator
  
  Suzuki Erina
- Project Period (FY)
  2018 – 2019
- Research Category
  
  Grant-in-Aid for Early-Career Scientists
- Review Section
  
  Basic Section 54040:Metabolism and endocrinology-related
- Research Institution
  National Center for Child Health and Development
Systematic mutation screening and genome-wide copy number analysis of patients with delayed puberty and precocious puberty.Principal Investigator
- Principal Investigator
  
  Suzuki Erina
- Project Period (FY)
  2015 – 2016
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Endocrinology
- Research Institution
  National Center for Child Health and Development

All 2021 2020 2019 2018 2017 2016 2015

All Journal Article Presentation

[Journal Article] NDNF variants are rare in patients with congenital hypogonadotropic hypogonadism2021
- Author(s)
  Tamaoka Satoshi、Suzuki Erina、Hattori Atsushi、Ogata Tsutomu、Fukami Maki、Katoh-Fukui Yuko
- Journal Title
  
  Human Genome Variation
  
  Volume: 8 Issue: 1 Pages: 5-5
- DOI
  10.1038/s41439-021-00137-x
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K08876, KAKENHI-PROJECT-18K06926, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-20H00539
[Journal Article] Random X chromosome inactivation in patients with Klinefelter syndrome.2020
- Author(s)
  Kinjo K, Yoshida T, Kobori Y, Okada H, Suzuki E, Ogata T, Miyado M and Fukami M.
- Journal Title
  
  Mol Cell Pediatr.
  
  Volume: 7 Issue: 1 Pages: 1-1
- DOI
  10.1186/s40348-020-0093-x
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K11194, KAKENHI-PROJECT-19K09682, KAKENHI-PROJECT-18K16249, KAKENHI-PROJECT-17K11206, KAKENHI-PROJECT-20H00539
[Journal Article] (Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty.2019
- Author(s)
  Suzuki E, Shima H, Kagami M, Soneda S, Tanaka T, Yatsuga S, Nishioka J, Oto Y, Kamiya T, Naiki Y, Ogata T, Fujisawa Y, Nakamura A, Kawashima S, Morikawa S, Horikawa R, Sano S, Fukami M
- Journal Title
  
  Human Genome Variation
  
  Volume: - Issue: 1 Pages: 7-7
- DOI
  10.1038/s41439-019-0039-9
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K16249, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-17H03616, KAKENHI-PROJECT-17H04204
[Journal Article] DNA Methylation Status of SHOX-Flanking CpG Islands in Healthy Individuals and Short Stature Patients with Pseudoautosomal Copy Number Variations.2019
- Author(s)
  Ogushi K, Muroya K, Shima H, Jinno T, Miyado M and Fukami M.
- Journal Title
  
  Cytogenetic and Genome Research
  
  Volume: 158 Issue: 2 Pages: 56-62
- DOI
  10.1159/000500468
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K09682, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-17H03616, KAKENHI-PROJECT-18K16249
[Journal Article] Paradoxical gain-of-function mutant of the G-protein-coupled receptor PROKR2 promotes early puberty.2017
- Author(s)
  Fukami M, Suzuki E, Izumi Y, Torii T, Narumi S, Igarashi M, Miyado M, Katsumi M, Fujisawa Y, Nakabayashi K, Hata K, Umezawa A, Matsubara Y, Yamauchi J, Ogata T.
- Journal Title
  
  Journal of Cellular and Molecular Medicine
  
  Volume: - Issue: 10 Pages: 2623-2626
- DOI
  10.1111/jcmm.13146
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-15K19538, KAKENHI-PROJECT-16K08603, KAKENHI-PROJECT-16K09979, KAKENHI-PROJECT-17K10074, KAKENHI-PROJECT-17J40246
[Journal Article] Catastrophic cellular events leading to complex chromosomal rearrangements in the germline.2017
- Author(s)
  Fukami M, Shima H, Suzuki E, Ogata T, Matsubara K, Kamimaki T.
- Journal Title
  
  Clinical Genetics
  
  Volume: 91 Issue: 5 Pages: 653-660
- DOI
  10.1111/cge.12928
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-15K19538, KAKENHI-PROJECT-15K09734
[Journal Article] Xp22.31 Microdeletion due to Microhomology-Mediated Break-Induced Replication in a Boy with Contiguous Gene Deletion Syndrome.2017
- Author(s)
  Nagai K, Shima H, Kamimura M, Kanno J, Suzuki E, Ishiguro A, Narumi S, Kure S, Fujiwara I, Fukami M
- Journal Title
  
  Cytogenet Genome Res.
  
  Volume: 151 Issue: 1 Pages: 1-4
- DOI
  10.1159/000458469
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26293224, KAKENHI-PROJECT-15K19538
[Journal Article] Complex X-Chromosomal Rearrangements in Two Women with Ovarian Dysfunction: Implications of Chromothripsis/Chromoanasynthesis-Dependent and -Independent Origins of Complex Genomic Alterations.2016
- Author(s)
  Suzuki E, Shima H, Toki M, Hanew K, Matsubara K, Kurahashi H, Narumi S, Ogata T, Kamimaki T, *Fukami M.
- Journal Title
  
  Cytogenet Genome Res
  
  Volume: 150 Issue: 2 Pages: 86-92
- DOI
  10.1159/000455026
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-15H04710, KAKENHI-PROJECT-15K19538, KAKENHI-PROJECT-15K09734
[Journal Article] NR0B1 frameshift mutation in a boy with idiopathic central precocious puberty.2016
- Author(s)
  Shima H, Yatsuga S, Nakamura A, Sano S, Sasaki T, Katsumata N, Suzuki E, Hata K, Nakabayashi K, Momozawa Y, Kubo M, Okamura K, Kure S, Matsubara Y, Ogata T, Narumi S, Fukami M.
- Journal Title
  
  Sexual Development
  
  Volume: 10 Pages: 205-209
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-15K19538
[Journal Article] Loss-of-Function SOX10 Mutation in a Patient with Kallmann Syndrome, Hearing Loss, and Iris Hypopigmentation.2015
- Author(s)
  Suzuki E, Izumi Y, Chiba Y, Horikawa R, Matsubara Y, Tanaka M, Ogata T, Fukami M, Naiki Y.
- Journal Title
  
  Hormone Research in Paediatrics
  
  Volume: 84 Issue: 3 Pages: 212-216
- DOI
  10.1159/000436965
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19538, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-26293224
[Journal Article] Lack of Skeletal Dysplasia in Patients with Missense Mutations and Upstream Deletion of SOX9.2015
- Author(s)
  Katoh-Fukui Y, Igarashi M, Nagasaki K, Horikawa R, Nagai T, Tsuchiya T, Suzuki E, Miyado M, Hata K, Nakabayashi K, Hayashi K, Matsubara Y, Baba T, Morohashi K, Igarashi A, Ogata T, Takada S, and Fukami M
- Journal Title
  
  Molecular Genetics & Genomic Medicine
  
  Volume: 3 Issue: 6 Pages: 550-557
- DOI
  10.1002/mgg3.165
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K06917, KAKENHI-PROJECT-15K19439, KAKENHI-PROJECT-15K19538, KAKENHI-PLANNED-22132002, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-26860837, KAKENHI-PROJECT-26870887, KAKENHI-PROJECT-26293224
[Presentation] 生殖年齢の非閉塞性無精子症患者におけるモザイクY染色体喪失は稀である2021
- Author(s)
  鈴木　江莉奈、小堀　善友、勝見　桃理、牛嶋　規久美、内山　徹、岡田　弘、宮戸　真美、深見　真紀
- Organizer
  第54回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-20K08876
[Presentation] アジアの中枢性思春期早発症患者においてMKRN3遺伝子変異・異常は稀である2020
- Author(s)
  鈴木江莉奈, 宮戸真美, 田中敏章, 八ツ賀秀一, 西岡淳子, 緒方勤, 堀川玲子, 深見真紀
- Organizer
  第24回日本生殖内分泌学会
- Data Source
  KAKENHI-PROJECT-18K16249
[Presentation] 中枢性思春期早発を招くMKRN3異常の主体は、 de novo変異の発生ではなく、父由来変異の伝達である2019
- Author(s)
  鈴木江莉奈, 島彦仁, 鏡雅代, 曽根田瞬, 田中敏章, 八ツ賀秀一, 西岡淳子, 大戸佑二, 神谷敏也, 内木康博,緒方勤, 藤澤泰子, 中村明枝, 川嶋明香, 森川俊太郎, 堀川玲子, 佐野伸一郎, 深見真紀
- Organizer
  第53回日本小児内分泌学会
- Data Source
  KAKENHI-PROJECT-18K16249
[Presentation] 偽性副甲状腺機能低下症を招くGNAS遺伝子内構造多様性のゲノム基盤の解明2018
- Author(s)
  鈴木　江莉奈、坊　亮輔、須恵　香里、粟野　宏之、緒方　勤、鳴海　覚志、鏡　雅代、佐野　伸一郎、深見　真紀
- Organizer
  第41回日本分子生物学会
- Data Source
  KAKENHI-PROJECT-18K16249
[Presentation] 卵巣機能不全患者2例における複雑Ｘ染色体再構成の同定2016
- Author(s)
  鈴木　江莉奈　島　彦仁　土岐　真智子　羽二生　邦彦　松原　圭子　倉橋　浩樹　鳴海　覚志　緒方　勤　上牧　務　深見　真紀
- Organizer
  第39回日本小児遺伝学会学術集会
- Place of Presentation
  慶應義塾大学三田北館ホールと会議室
- Year and Date
  2016-12-09
- Data Source
  KAKENHI-PROJECT-15K19538
[Presentation] 内分泌疾患の原因となる新たなGタンパク共役型受容体機能亢進メカニズムの解明2016
- Author(s)
  鈴木　江莉奈　泉　陽子　鳥居　知宏　五十嵐　麻希　宮戸　真美　勝見　桃理　山内　淳司　藤澤　泰子　緒方　勤　深見　真紀
- Organizer
  第50回日本小児内分泌学会学術集会
- Place of Presentation
  東京国際フォーラム
- Year and Date
  2016-11-16
- Data Source
  KAKENHI-PROJECT-15K19538
[Presentation] 難聴と虹彩色素脱出を伴うKallmann 症候群患者におけるSOX10機能喪失変異の同定2015
- Author(s)
  鈴木　江莉奈、泉　陽子、千葉　悠太、堀川　玲子、緒方　勤、内木　康博、深見　真紀
- Organizer
  第49回日本小児内分泌学会
- Place of Presentation
  タワーホール船堀
- Year and Date
  2015-10-08
- Data Source
  KAKENHI-PROJECT-15K19538

1. 松原圭子 (90542952)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
2. KATOH-FUKUI Yuko

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
3. TAKADA Shuji

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
4. FUKAMI Maki

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
5. 倉橋浩樹

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
6. 宮戸真美

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results

SUZUKI Erina 鈴木 江莉奈

Suzuki Erina 鈴木 江莉奈

Research Projects

Research Products

Co-Researchers

網羅的遺伝子・エピゲノム解析による性成熟疾患の病因の解明Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Epigenetic analysis in patients with pubertal disorders.Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Systematic mutation screening and genome-wide copy number analysis of patients with delayed puberty and precocious puberty.Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

[Journal Article] NDNF variants are rare in patients with congenital hypogonadotropic hypogonadism2021

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Random X chromosome inactivation in patients with Klinefelter syndrome.2020

Author(s)

Journal Title

DOI

Data Source

[Journal Article] (Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty.2019

Author(s)

Journal Title

DOI

Data Source

[Journal Article] DNA Methylation Status of SHOX-Flanking CpG Islands in Healthy Individuals and Short Stature Patients with Pseudoautosomal Copy Number Variations.2019

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Paradoxical gain-of-function mutant of the G-protein-coupled receptor PROKR2 promotes early puberty.2017

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Catastrophic cellular events leading to complex chromosomal rearrangements in the germline.2017

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Xp22.31 Microdeletion due to Microhomology-Mediated Break-Induced Replication in a Boy with Contiguous Gene Deletion Syndrome.2017

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Complex X-Chromosomal Rearrangements in Two Women with Ovarian Dysfunction: Implications of Chromothripsis/Chromoanasynthesis-Dependent and -Independent Origins of Complex Genomic Alterations.2016

Author(s)

Journal Title

DOI

Data Source

[Journal Article] NR0B1 frameshift mutation in a boy with idiopathic central precocious puberty.2016

Author(s)

Journal Title

Data Source

[Journal Article] Loss-of-Function SOX10 Mutation in a Patient with Kallmann Syndrome, Hearing Loss, and Iris Hypopigmentation.2015

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Lack of Skeletal Dysplasia in Patients with Missense Mutations and Upstream Deletion of SOX9.2015

Author(s)

Journal Title

DOI

Data Source

[Presentation] 生殖年齢の非閉塞性無精子症患者におけるモザイクY染色体喪失は稀である2021

Author(s)

Organizer

SUZUKI Erina 鈴木江莉奈

Suzuki Erina 鈴木江莉奈