Yamazawa Kazuki

ヤマザワカズキ | Yamazawa Kazuki

Affiliation and department：

Research field (2)： Genetics , Fetal medicine/Pediatrics

Research keywords (6)：臨床遺伝 , メチル化 , エピジェネティクス , ゲノムインプリンティング , 先天異常症候群 , 遺伝性腫瘍

Research theme for competitive and other funds (10)：

2022 - 2025 Creation of treatment strategies for imprinting disorders through hydroxymethylation profiling
2021 - 2023 Development of biomarkers for lifestyle-related diseases by methylation analysis for SGA children based on the DOHaD theory
2019 - 2022 The role of hydroxymethylation in imprinting diseases caused by abnormal methylation
2016 - 2019 Pathologic clarification and development of new medicine for imprinting disorders in terms of hydroxymethylation
2015 - 2018 Exploring the role of methylation and hydroxymethylation in Hereditary Breast and Ovarian Cancer

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Papers (44)：

Moeko Nakashima, Tomoko Shiroshima, Masahiro Fukaya, Takeyuki Sugawara, Hiroyuki Sakagami, Kazuki Yamazawa. C-terminal truncations in IQSEC2: implications for synaptic localization, guanine nucleotide exchange factor activity, and neurological manifestations. Journal of human genetics. 2024
Kaori Hara-Isono, Keiko Matsubara, Akie Nakamura, Shinichiro Sano, Takanobu Inoue, Sayaka Kawashima, Tomoko Fuke, Kazuki Yamazawa, Maki Fukami, Tsutomu Ogata, et al. Risk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametes. Clinical epigenetics. 2023. 15. 1. 78-78
Kazuki Yamazawa, Kokichi Sugano, Kohji Tanakaya, Satomi Inoue, Haruka Murakami, Moeko Nakashima, Masataka Adachi, Shinya Oki, Takeshi Makabe, Hiroshi Yamashita, et al. The pathogenic role of the BRCA2 c.7847C>T (p.Ser2616Phe) variant in breast and ovarian cancer predisposition. Cancer science. 2023. 114. 7. 2993-3002
Haruka Murakami, Yoko Tanimoto, Kojiro Tanimoto, Satomi Inoue, Taisuke Ishikawa, Naomasa Makita, Kazuki Yamazawa. Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population. Human genome variation. 2022. 9. 1. 28-28
Kaori Hara-Isono, Kazuki Yamazawa, Satsuki Tanaka, Eriko Nishi, Maki Fukami, Masayo Kagami. CDKN1C hyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inherited KCNQ1OT1:TSS-DMR. Journal of medical genetics. 2022. 59. 12. 1241-1246

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MISC (120)：

薮内彩乃, 山澤一樹, 三春晶嗣, 藤田尚代, 鈴木絵理, 土岐真智子, 前田直則, 岸田さなえ, 窪田義己. マイクロアレイ染色体検査で診断した13q中間部欠失の3例. 日本小児科学会雑誌. 2024. 128. 2. 231-231
美里周吾, 竹下絵里, 山本薫, 馬場信平, 住友典子, 本橋裕子, 齋藤貴志, 小牧宏文, 中川栄二, 籏生なおみ, et al. 小頭と先天性難聴を呈するαジストログリカノパチーの男児例. 脳と発達. 2023. 55. 4. 308-308
村上遥香, 井上沙聡, 松永達雄, 藤波芳, 山澤一樹. Practice of Tele-Genetic Counseling to solve the unmet needs in genetic medicine. 日本遺伝カウンセリング学会誌. 2023. 44. 2. 86-86
吉田晶子, 吉田晶子, 吉田晶子, 稲葉慧, 稲葉慧, 浦川優作, 浦川優作, 河合加奈子, 角田和繁, 藤波芳, et al. Questionnaire Survey of the Needs and Usefulness of Genetic Counseling in Inherited Retinal Dystrophy Panel Testing. 日本遺伝カウンセリング学会誌. 2023. 44. 2. 102-102
松井哲, 小谷依里奈, 月山絵未, 手塚日向子, 笹原真奈美, 笹岡綾子, 村田有也, 山澤一樹, 木下貴之. BRCA遺伝子の遺伝情報に基づく治療戦略. 日本乳癌学会総会プログラム抄録集. 2023. 31回. 251-251

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Education (2)：

2005 - 2009 Keio University
1993 - 1999 Keio University School of Medicine

Professional career (1)：

博士(医学) (慶應義塾大学)

Work history (10)：

2022/04 - 現在 National Hospital Organization, Tokyo Medical Center
2021/02 - 2022/03 National Hospital Organization, Tokyo Medical Center
2015/04 - 2021/02 National Hospital Organization, Tokyo Medical Center
2012/04 - 2015/03 Keio University School of Medicine Department of Pediatrics
2009/09 - 2012/03 University of Cambridge Department of Physiology, Development and Neuroscience Postdoctoral Research Fellow

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Committee career (2)：

2023/10 - 現在日本小児内分泌学会評議員
2019/11 - 現在 The Japan Society of Human Genetics Councilor

Awards (4)：

2014 - Keio University School of Medicine Alumni Association Young Investigator Award
2011 - The Japan Society of Human Genetics Young Scientist Award Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR
2008/10 - The Japanese Society for Pediatric Endocrinology Best Presentation Award
2007/07 - Japan Society of Perinatal and Neonatal Medicine Best Presentation Award

Association Membership(s) (11)：

European Society of Human Genetics , American Society of Human Genetics , 日本遠隔医療学会 , 日本周産期・新生児医学会 , 日本分子生物学会 , 日本小児内分泌学会 , 日本小児遺伝学会 , 日本遺伝性腫瘍学会 , 日本遺伝カウンセリング学会 , 日本人類遺伝学会 , 日本小児科学会

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