Rchr
J-GLOBAL ID：200901022353508239
Update date: Oct. 06, 2024
Yamakawa Kazuhiro
ヤマカワ カズヒロ | Yamakawa Kazuhiro
Affiliation and department：
Job title：
Professor
Homepage URL (1)：
http://www.med.nagoya-cu.ac.jp/neurogenet/
Research field (3)：
Psychiatry
, Fetal medicine/Pediatrics
, Medical biochemistry
Research keywords (4)：
disease responsible genes
, intellectual disability
, autism
, epilepsy
Research theme for competitive and other funds (18)：
- 2024 - 2026 ナトリウムチャネル異常によるてんかん・神経発達症発症機構の解明
- 2023 - 2026 ナトリウムチャネル異常によるてんかん・神経発達症発症機構の解明
- 2020 - 2023 SCN2A neurodevelopmental disorders and environments
- 2017 - 2022 Comprehensive analysis of unmyelinated fibers in central nervous system
- 2013 - 2018 Epilepsy mechanism investigation and therapy development
- 2012 - 2013 Munc18-1異常によるてんかん発症メカニズムの解明
- 2010 - 2012 Investigation of molecular pathology of Down syndrome by high efficient system
- 2004 - 2008 Analysis of molecular biology of epilepsy
- 2006 - 2007 Investigation of modifiers for epilepsy by using mouse models
- 2004 - 2005 Investigation of the pathology for epileptic sodium channelopathy
- 2002 - 2003 Investigation of pathology for progressive myoclonus epilepsy
- 2002 - 2003 乳児重症ミオクロニーてんかん発症機構及び薬理学的対症法の検討
- 2000 - 2002 Identification of the responsible genes for child epilepsy targeting abnormalities in the pore region of ion channels expressed in the central nerve system
- 2000 - 2002 Genetic study of epilepsies and febrile convulsions
- 1991 - 1993 肺癌の発生機序と肺癌細胞の特性-病理組織学的.分子生物学的解析-
- 1990 - 1993 癌抑制遺伝子の解明
- 1991 - 1992 肺癌の発生機序と肺癌細胞の特性ー病理組織学的・分子生物学的解析ー
- 1990 - 1992 乳癌・大腸癌における癌抑制遺伝子の単離
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Papers (220)：
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Siwei Chen, Bassel W. Abou-Khalil, Zaid Afawi, Quratulain Zulfiqar Ali, Elisabetta Amadori, Alison Anderson, Joe Anderson, Danielle M. Andrade, Grazia Annesi, Mutluay Arslan, et al. Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes. Nature Neuroscience. 2024. 27. 10. 1864-1879
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Toshimitsu Suzuki, Kripamoy Aguan, Hideaki Mizuno, Takeshi Nakamura, Ikuyo Inoue, Katsuhiko Mikoshiba, Atsushi Miyawaki, Kazuhiro Yamakawa. Epilepsy protein myoclonin1 interacts with inositol 1,4,5-trisphosphate (IP3) receptor and reduces Ca2+ store in endoplasmic reticulum. 2024
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Haruko Miyazaki, Saki Nishioka, Tomoyuki Yamanaka, Manabu Abe, Yukio Imamura, Tomohiro Miyasaka, Nobuto Kakuda, Toshitaka Oohashi, Tomomi Shimogori, Kazuhiro Yamakawa, et al. Generation and characterization of cerebellar granule neurons specific knockout mice of Golli-MBP. Transgenic research. 2024. 33. 3. 99-117
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Hideo Hagihara, Hirotaka Shoji, Satoko Hattori, Giovanni Sala, Yoshihiro Takamiya, Mika Tanaka, Masafumi Ihara, Mihiro Shibutani, Izuho Hatada, Kei Hori, et al. Large-scale animal model study uncovers altered brain pH and lactate levels as a transdiagnostic endophenotype of neuropsychiatric disorders involving cognitive impairment. eLife. 2024. 12
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KEIICHI ISHIHARA, RYUTO SAKODA, MASAKO MIZOGUCHI, MITSUGU FUJITA, CHIAMI MOYAMA, YURI OKUTANI, KAZUYUKI TAKATA, MIWA TANAKA, TAKASHI MINAMI, HARUHIKO SAGO, et al. Suppression ofSleeping Beauty-induced Gliomagenicity in Ts1Cje Mice, a Model of Down Syndrome. Anticancer Research. 2024. 44. 2. 489-495
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MISC (125)：
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千代華歩, 河下映里, 秋葉聡, 山川和弘, 石原慶一. Correlation between brain copper accumulation and emotional memory impairment in mouse models of Down syndrome. 日本薬学会年会要旨集(Web). 2023. 143rd
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神保里菜, 高田修治, 斉藤美知子, 山川和弘, 河下映里, 左合治彦, 秋葉聡, 石原慶一. Narrowing down the genetic loci responsible for copper accumulation in the Down syndrome brain. 日本薬学会年会要旨集(Web). 2023. 143rd
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八島有彌, 西原夏子, 中塚伶美, 河下映里, 左合治彦, 山川和弘, 山川和弘, 秋葉聡, 石原慶一. The copper accumulation mechanism in the brain of Down syndrome mouse model. 日本薬学会年会要旨集(CD-ROM). 2020. 140th (Web). 28Q-pm022S
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清水涼平, 脇木咲紀, 河下映里, ALEXANDER Warren S, 左合治彦, 山川和弘, 秋葉聡, 石原慶一. ダウン症モデルマウス成体期表現型に転写因子Ets-related geneの3コピー化の及ぼす影響. 日本薬学会年会要旨集(CD-ROM). 2019. 139th. 3. 119-119
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清水涼平, 杉本早希, 都志見文子, 脇木咲紀, 河下映里, 下畑充志, ALEXANDER Warren, 左合治彦, 山川和弘, 秋葉聡, et al. DNAマイクロアレイ解析を用いたダウン症モデルマウスにおける脳発達遅滞の関連遺伝子の探索. 日本薬学会年会要旨集(CD-ROM). 2018. 138th
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Professional career (1)：
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