Updated on 2024/12/10

写真a

 
MURAMATSU Yukako
 
Organization
Nagoya University Hospital Center for Postgraduate Clinical Training and Career Development Lecturer of hospital
Title
Lecturer of hospital

Degree 1

  1. 医学博士 ( 2016.4   名古屋大学 ) 

Research Areas 2

  1. Life Science / Embryonic medicine and pediatrics

  2. Life Science / Genetics

 

Papers 24

  1. Pathophysiological significance of the p.E31G variant in<i> RAC1</i> responsible for a neurodevelopmental disorder with microcephaly

    Nishikawa, M; Hayashi, S; Nakayama, A; Nishio, Y; Shiraki, A; Ito, H; Maruyama, K; Muramatsu, Y; Ogi, T; Mizuno, S; Nagata, K

    BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE   Vol. 1871 ( 1 ) page: 167520   2025.1

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1016/j.bbadis.2024.167520

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  2. Safety and tolerability of a Muse cell-based product in neonatal hypoxic-ischemic encephalopathy with therapeutic hypothermia (SHIELD trial)

    Sato, Y; Shimizu, S; Ueda, K; Suzuki, T; Suzuki, S; Miura, R; Ando, M; Tsuda, K; Iwata, O; Muramatsu, Y; Kidokoro, H; Hirakawa, A; Hayakawa, M

    STEM CELLS TRANSLATIONAL MEDICINE   Vol. 13 ( 11 ) page: 1053 - 1066   2024.10

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1093/stcltm/szae071

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  3. Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance

    Urakawa, T; Soejima, H; Yamoto, K; Hara-Isono, K; Nakamura, A; Kawashima, S; Narusawa, H; Kosaki, R; Nishimura, Y; Yamazawa, K; Hattori, T; Muramatsu, Y; Inoue, T; Matsubara, K; Fukami, M; Saitoh, S; Ogata, T; Kagami, M

    CLINICAL EPIGENETICS   Vol. 16 ( 1 ) page: 138   2024.10

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1186/s13148-024-01744-5

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  4. Biallelic loss-of-function variants in the centriolar protein CCP110 leads to a ciliopathy-like phenotype

    Suzuki, H; Muramatsu, Y; Miya, F; Asada, H; Yamada, M; Nishimura, G; Kosaki, K; Takenouchi, T

    EUROPEAN JOURNAL OF MEDICAL GENETICS   Vol. 70   page: 104955   2024.8

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1016/j.ejmg.2024.104955

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  5. Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm

    Sugimoto, T; Inagaki, H; Mariya, T; Kawamura, R; Taniguchi-Ikeda, M; Mizuno, S; Muramatsu, Y; Tsuge, I; Ohashi, H; Saito, N; Hasegawa, Y; Ochi, N; Yamaguchi, M; Murotsuki, J; Kurahashi, H

    HUMAN GENETICS   Vol. 142 ( 10 ) page: 1451 - 1460   2023.10

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1007/s00439-023-02591-9

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  6. Prenatal diagnosis of distal 13q deletion syndrome in a fetus with esophageal atresia: a case report and review of the literature

    Kotani Tomomi, Tsuda Hiroyuki, Ito Yumiko, Nakamura Noriyuki, Ushida Takafumi, Imai Kenji, Iitani Yukako, Fuma Kazuya, Muramatsu Yukako, Hayakawa Masahiro, Kajiyama Hiroaki

      Vol. 16 ( 1 ) page: 481   2022.12

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1186/s13256-022-03713-z

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  7. Whole-exome analysis of 177 pediatric patients with undiagnosed diseases

    Narita Kotaro, Muramatsu Hideki, Narumi Satoshi, Nakamura Yuji, Okuno Yusuke, Suzuki Kyogo, Hamada Motoharu, Yamaguchi Naoya, Suzuki Atsushi, Nishio Yosuke, Shiraki Anna, Yamamori Ayako, Tsumura Yusuke, Sawamura Fumi, Kawaguchi Masahiro, Wakamatsu Manabu, Kataoka Shinsuke, Kato Kohji, Asada Hideyuki, Kubota Tetsuo, Muramatsu Yukako, Kidokoro Hiroyuki, Natsume Jun, Mizuno Seiji, Nakata Tomohiko, Inagaki Hidehito, Ishihara Naoko, Yonekawa Takahiro, Okumura Akihisa, Ogi Tomoo, Kojima Seiji, Kaname Tadashi, Hasegawa Tomonobu, Saitoh Shinji, Takahashi Yoshiyuki

      Vol. 12 ( 1 ) page: 14589   2022.8

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1038/s41598-022-14161-6

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  8. Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes

    Mariya Tasuku, Kato Takema, Sugimoto Takeshi, Miyai Syunsuke, Inagaki Hidehito, Ohye Tamae, Sugihara Eiji, Muramatsu Yukako, Mizuno Seiji, Kurahashi Hiroki

    JOURNAL OF HUMAN GENETICS   Vol. 67 ( 6 ) page: 363 - 368   2022.6

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1038/s10038-021-01004-x

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  9. Establishment of in-hospital clinical network for patients with neurofibromatosis type 1 in Nagoya University Hospital

    Nishida, Y; Ikuta, K; Natsume, A; Ishihara, N; Morikawa, M; Kidokoro, H; Muramatsu, Y; Nonobe, N; Ishizuka, K; Takeichi, T; Kanbe, M; Mizuno, S; Imagama, S; Ozaki, N

    SCIENTIFIC REPORTS   Vol. 11 ( 1 ) page: 11933   2021.6

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1038/s41598-021-91345-6

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  10. The involvement of U-type dicentric chromosomes in the formation of terminal deletions with or without adjacent inverted duplications

    Kato, T; Inagaki, H; Miyai, S; Suzuki, F; Naru, Y; Shinkai, Y; Kato, A; Kanyama, K; Mizuno, S; Muramatsu, Y; Yamamoto, T; Shinya, M; Tazaki, Y; Hiwatashi, S; Ikeda, T; Ozaki, M; Kurahashi, H

    HUMAN GENETICS   Vol. 139 ( 11 ) page: 1417 - 1427   2020.11

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1007/s00439-020-02186-8

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  11. A case report of rare <i>ZC4H2</i>-associated disorders associated with three large hernias

    Nagara, S; Fukaya, S; Muramatsu, Y; Kaname, T; Tanaka, T

    PEDIATRICS INTERNATIONAL   Vol. 62 ( 8 ) page: 985 - 986   2020.8

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1111/ped.14211

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  12. Role of the Embodied Cognition Process in Perspective-Taking Ability During Childhood. Reviewed

    Hirai M, Muramatsu Y, Nakamura M

    Child development   Vol. 91 ( 1 ) page: 214 - 235   2020.1

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1111/cdev.13172

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  13. Findings of amplitude-integrated electroencephalogram recordings and serum vitamin B6 metabolites in perinatal lethal hypophosphatasia during enzyme replacement therapy

    Ishiguro, T; Sugiyama, Y; Ueda, K; Muramatsu, Y; Tsuda, H; Kotani, T; Michigami, T; Tachikawa, K; Akiyama, T; Hayakawa, M

    BRAIN & DEVELOPMENT   Vol. 41 ( 8 ) page: 721 - 725   2019.9

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1016/j.braindev.2019.03.015

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  14. Factors related to survival discharge in trisomy 18: A retrospective multicenter study

    Kato, E; Kitase, Y; Tachibana, T; Hattori, T; Saito, A; Muramatsu, Y; Takemoto, K; Yamamoto, H; Hayashi, S; Yasuda, A; Kato, Y; Ieda, K; Oshiro, M; Sato, Y; Hayakawa, M

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A   Vol. 179 ( 7 ) page: 1253 - 1259   2019.7

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1002/ajmg.a.61146

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  15. Recovery from Rapid deterioration in individuals with Down syndrome

    Mizuno, S; Inaba, M; Taniai, H; Muramatsu, Y

    EUROPEAN JOURNAL OF HUMAN GENETICS   Vol. 26   page: 927 - 927   2018.10

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  16. Factors related to home health-care transition in trisomy 13

    Kitase Yuma, Hayakawa Masahiro, Kondo Taiki, Saito Akiko, Tachibana Takashi, Oshiro Makoto, Ieda Kuniko, Kato Eiko, Kato Yuichi, Hattori Tetsuo, Hayashi Seiji, Ito Masatoki, Hyodo Reina, Muramatsu Yukako, Sato Yoshiaki

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A   Vol. 173 ( 10 ) page: 2635 - 2640   2017.10

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1002/ajmg.a.38371

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  17. Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties

    Tanigawa Junpei, Mimatsu Haruka, Mizuno Seiji, Okamoto Nobuhiko, Fukushi Daisuke, Tominaga Koji, Kidokoro Hiroyuki, Muramatsu Yukako, Nishi Eriko, Nakamura Shota, Motooka Daisuke, Nomura Noriko, Hayasaka Kiyoshi, Niihori Tetsuya, Aoki Yoko, Nabatame Shin, Hayakawa Masahiro, Natsume Jun, Ozono Keiichi, Kinoshita Taroh, Wakamatsu Nobuaki, Murakami Yoshiko

    HUMAN MUTATION   Vol. 38 ( 7 ) page: 805 - 815   2017.7

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1002/humu.23219

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  18. Disparities in visuo-spatial constructive abilities in Williams syndrome patients with typical deletion on chromosome 7q11.23

    Muramatsu Yukako, Tokita Yoshihito, Mizuno Seiji, Nakamura Miho

    BRAIN & DEVELOPMENT   Vol. 39 ( 2 ) page: 145 - 153   2017.2

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1016/j.braindev.2016.09.003

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  19. Preserved search asymmetry in the detection of fearful faces among neutral faces in individuals with Williams syndrome revealed by measurement of both manual responses and eye tracking. Reviewed

    Hirai M, Muramatsu Y, Mizuno S, Kurahashi N, Kurahashi H, Nakamura M

    Journal of neurodevelopmental disorders   Vol. 9   page: 8   2017

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1186/s11689-017-9190-0

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  20. Hydrogen-rich water ameliorates bronchopulmonary dysplasia (BPD) in newborn rats. Reviewed

    Muramatsu Y, Ito M, Oshima T, Kojima S, Ohno K.

    Pediatr Pulmonol   Vol. 51 ( 9 ) page: 928-35   2016.9

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    Authorship:Lead author   Language:English   Publishing type:Research paper (scientific journal)  

  21. Cognitive and linguistic abilities of a boy with PVL showing relatively higher VIQ compared to PIQ Reviewed

    Muramatsu Y., Natsume J., Nakamura M.

    No to hattatsu   Vol. 46 ( 5 ) page: 363-369   2015.9

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    Authorship:Lead author   Language:Japanese   Publishing type:Research paper (scientific journal)  

  22. Developmental changes in mental rotation ability and visual perspective-taking in children and adults with Williams syndrome Reviewed

    Hirai M, Muramatsu Y, Mizuno S, Kurahashi N, Kurahashi H, Nakamura M

    Front Hum Neurosci     page: 856   2013.12

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  23. Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome Reviewed

    Suzumori N, Kaname T, Muramatsu Y, Yanagi K, Kumagai K, Mizuno S, Naritomi K, Saitoh S, Sugiura-Ogasawara M

    J Obstet Gynaecol Res     page: 1545-7   2013.11

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  24. Progressive Aortic Root and Pulmonary Artery Aneurysms in a Neonate with Loeys-Dietz Syndrome, Type 1B Reviewed

    Yukako Muramatsu, Tomoki kosho, Miyuki Magota, Taro Yokotsuka, Masatoki Ito, Ayako Yasuda, Osamu Kito, Chizuko Suzuki, Yoshie Nagata, Satoru Kawai, Masanobu Ikoma, Tameo Hatano, Masato Nakayama, Keiko Wakui, Hiroko Morisaki, Takayuki Morisaki, Yoshimitsu Fukushima

    American Journal of Medical Genetics     page: 417-21   2010.2

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    Language:English   Publishing type:Research paper (scientific journal)  

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Books 14

  1. 最新ガイドライン準拠 小児科診断・治療指針 改訂第3版

    ( Role: Contributor ,  22q11.2 欠失症候群)

    中山書店  2024 

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    Language:Japanese

  2. マタニティサイクルにおける母子の健康と看護 第7版

    (先天異常、新生児の外科系疾患)

    メヂカルフレンド社  2022 

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    Language:Japanese

  3. 発達段階からみた小児看護過程+病態関連図 第4版

    村松友佳子、早川昌弘( Role: Contributor ,  口唇口蓋裂)

    医学書院  2021 

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    Language:Japanese

  4. 今日の小児治療指針 第17版

    村松友佳子( Role: Contributor ,  Marfan症候群)

    医学書院  2020 

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    Language:Japanese

  5. マタニティサイクルにおける母子の健康と看護 第6版

    (先天異常、新生児の外科系疾患)

    メヂカルフレンド社  2019 

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    Language:Japanese

  6. こどもと家族のケア12巻4号

    村松友佳子( Role: Contributor ,  染色体異常)

    日総研出版  2017 

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    Language:Japanese

  7. 発達段階からみた小児看護過程+病態関連図 第3版

    村松友佳子、早川昌弘( Role: Contributor ,  口唇口蓋裂)

    医学書院  2017 

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    Language:Japanese

  8. 発達障害白書2017年度版

    村松友佳子( Role: Contributor ,  発達障害と遺伝カウンセリング)

    明石書店  2016 

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    Language:Japanese

  9. こどもの病気 遺伝について聞かれたら

    村松友佳子、早川昌弘( Role: Contributor ,  新生児けいれん)

    診断と治療社  2015 

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    Language:Japanese

  10. 今日の小児治療指針第16版

    村松友佳子(染色体異常、奇形症候群 Williams症候群)

    医学書院  2015 

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    Language:Japanese

  11. 小児疾患診療のための病態生理2 改訂第5版

    村松友佳子( Role: Contributor ,  Ⅲ.染色体異常、先天異常 Williams症候群)

    東京医学社  2015 

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    Language:Japanese

  12. 神経症候群(第2版)

    村松友佳子( Role: Contributor ,  その他の神経疾患を含めて 先天異常/先天奇形 染色体異常・先天奇形症候群 Williams症候群(Williams-Beuren症候群))

    日本臨床  2014 

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    Language:Japanese

  13. 小児科臨床66巻増刊

    村松友佳子( Role: Contributor ,  臨床医が知っておきたい先天異常 染色体微細コピー数異常 Williams症候群)

    日本小児医事出版社  2013 

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    Language:Japanese

  14. 臨床新生児ナーシングガイド

    村松友佳子( Role: Contributor ,  体温管理)

    日総研出版  2005 

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    Language:Japanese

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Presentations 4

  1. Liberal Arts Education in Japanese Medical Education. International conference

    Muramatsu Y, Nishigori H.

    Asia Pacific Medical Education Conference 2022  2022.1.14 

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    Event date: 2022.1

    Language:English   Presentation type:Oral presentation (general)  

  2. Ring chromosome 9 with a 9p24.3-p24.1 deletion and 9p24.1-p21.1 duplication in a girl with developmental delay and sex reversal. International conference

    Muramatsu Y, Ohye T, Nakata T, Hamajima T, Ito M, Takeuchi T, Izawa M, Kurahashi H

    The 13th International Congress of Human Genetics 

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    Event date: 2016.4

    Language:English   Presentation type:Poster presentation  

  3. Heterozygosity of ELN can cause tortuous cerebral artery in Williams syndrome. International conference

    Muramatsu Y, Mizuno S, Kakizawa H, Shimizu K, Ohashi H, Hayashi S, Inazawa J, Itomi K

    European Human Genetics Conference 2015 

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    Event date: 2015.6

    Language:English   Presentation type:Poster presentation  

  4. Atypical interstitial deletion of 7q11.23 containing whole ELN and partial LIMK1: Phenotype comparison with typical Williams syndrome. International conference

    Muramatsu Y., Kakizawa H., Shimizu K., Ohashi H., Hayashi S., Inazawa J., Mizuno S.

    European Human Genetics Conference 2013 

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    Event date: 2013.6

    Language:English   Presentation type:Poster presentation  

Research Project for Joint Research, Competitive Funding, etc. 2

  1. 先天性横隔膜ヘルニアにおける肺画像と呼吸機能予後についての経時的検討

    2023

    令和4年度研究奨励 

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    Authorship:Principal investigator 

  2. 幹細胞を用いた新生児敗血症による多臓器障害に対する治療薬の開発

    2016

    奨学寄附 

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    Authorship:Principal investigator 

KAKENHI (Grants-in-Aid for Scientific Research) 5

  1. 胎児炎症性反応症候群に伴う臓器障害の病態解明と幹細胞を用いた新規治療法開発

    Grant number:23K07330  2023.4 - 2026.3

    科学研究費助成事業  基盤研究(C)

    村松 友佳子

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    Authorship:Principal investigator 

    Grant amount:\4680000 ( Direct Cost: \3600000 、 Indirect Cost:\1080000 )

    早産児の合併症の重要な原因の一つとして、胎児炎症性反応症候群(FIRS)が注目されている。FIRSは子宮内で生じた炎症ならびに高サイトカイン状態が、胎児の複数の臓器へ障害をもたらす病態である。FIRSに関する研究の多くは病態解明を目的とした基礎研究に留まり、その治療法は未だ確立されていない。
    本研究では、FIRSモデルに対して細胞を投与し、細胞がもたらす抗炎症作用や組織修復促進作用の機序、有効性、安全性を明らかにする。さらに、これらの基礎データから、複数の障害臓器へ同時に治療効果を発揮する細胞療法開発につなげる。

  2. A Study of Social Development and Family Mental Health of Preterm Infants

    Grant number:20H01768  2020.4 - 2025.3

    Grants-in-Aid for Scientific Research  Grant-in-Aid for Scientific Research (B)

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    Authorship:Coinvestigator(s) 

  3. A Study of Social Development and Family Mental Health of Preterm Infants

    Grant number:23K20197  2020.4 - 2025.3

    Grants-in-Aid for Scientific Research  Grant-in-Aid for Scientific Research (B)

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    Authorship:Coinvestigator(s) 

  4. Pathophysiology of neurological disorder associated with neonatal chronic lung disease focusing on ion homeostasis in neurons

    Grant number:20K16920  2020.4 - 2023.3

    Grants-in-Aid for Scientific Research  Grant-in-Aid for Early-Career Scientists

    Muramatsu Yukako

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    Authorship:Principal investigator 

    Grant amount:\4160000 ( Direct Cost: \3200000 、 Indirect Cost:\960000 )

    Chronic lung disease is one of major complications in extremely low birth weight infants, which is caused by high concentrations of oxygen and/or positive pressure ventilation, but its neurodevelopmental effects are not understood.
    Loop diuretics are often used as adjunctive therapy for chronic lung disease (CLD). Loop diuretics inhibit both KCC2 and NKCC1, Cl- transporters present in neuronal membranes. Immature neurons are NKCC1-dominant, but as they mature, they change to KCC2-dominant.
    In this study, we investigated the effects of CLD and loop diuretics on KCC2/NKCC1 expression and elucidated the resulting neurodevelopmental consequences.

  5. Elucidation of the pathogenesis of neurological deficits associated with neonatal chronic lung disease and development of novel therapeutic strategies using cells

    Grant number:18K15705  2018.4 - 2020.3

    Grant-in-Aid for Early-Career Scientists

    Muramatsu Yukako

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    Authorship:Principal investigator 

    Grant amount:\4160000 ( Direct Cost: \3200000 、 Indirect Cost:\960000 )

    Chronic lung disease (CLD) is a serious and frequent complication in neonatal medicine. The neurodevelopmental delay seen in the patients with CLD is an one of the most important problem, and there are no treatments for the neurological consequences of CLD.
    The purpose of this study is to investigate the pathogenesis of the neurological consequences in detail and to conduct basic research that will lead to novel treatments.

 

Teaching Experience (On-campus) 3

  1. 看護師特定行為研修

    2019年〜

  2. 臨床実習1

    2016年〜

  3. 臨床実習2

    2015年〜

 

Academic Activities 2

  1. 第44回日本小児遺伝学会学術集会

    Role(s):Peer review

  2. 第45回日本小児遺伝学会学術集会

    Role(s):Planning, management, etc., Peer review