Suzuki, Hisato

写真a

Affiliation

School of Medicine, Center for Medical Genetics (Shinanomachi)

Position

Senior Assistant Professor (Non-tenured)/Assistant Professor (Non-tenured)

External Links

Academic Background 【 Display / hide

  • 2014.04
    -
    2017.03

    University of Tsukuba, 人間総合科学研究科, 疾患制御医学専攻

    Graduate School, Graduated

Academic Degrees 【 Display / hide

  • 医学, 筑波大学大学院, Coursework, 2017.03

Licenses and Qualifications 【 Display / hide

  • 医師免許, 2009.04

 

Research Areas 【 Display / hide

  • Life Science / Medical biochemistry

  • Life Science / Embryonic medicine and pediatrics

Research Keywords 【 Display / hide

  • allergy

  • Pediatrics

  • Clinical Genomics

  • food allergy

 

Papers 【 Display / hide

  • Novel ARX mutation identified in infantile spasm syndrome patient

    Takeshita Yohei, Ohto Tatsuyuki, Enokizono Takashi, Tanaka Mai, Suzuki Hisato, Fukushima Hiroko, Uehara Tomoko, Takenouchi Toshiki, Kosaki Kenjiro, Takada Hidetoshi

    HUMAN GENOME VARIATION 7 ( 1 )  2020.03

    Joint Work

  • Poor outcomes in carriers of the RNF213 variant (p.Arg4810Lys) with pulmonary arterial hypertension

    Hiraide Takahiro, Kataoka Masaharu, Suzuki Hisato, Aimi Yuki, Chiba Tomohiro, Isobe Sarasa, Katsumata Yoshinori, Goto Shinichi, Kanekura Kohsuke, Yamada Yoshitake, Moriyama Hidenori, Kitakata Hiroki, Endo Jin, Yuasa Shinsuke, Arai Yasumichi, Hirose Nobuyoshi, Satoh Toru, Hakamata Yoji, Sano Motoaki, Gamou Shinobu, Kosaki Kenjiro, Fukuda Keiichi

    JOURNAL OF HEART AND LUNG TRANSPLANTATION 39 ( 2 ) 103 - 112 2020.02

    Joint Work,  ISSN  1053-2498

  • Infantile neuroaxonal dystrophy in a pair of Malaysian siblings with progressive cerebellar atrophy: Description of an expanded phenotype with novel PLA2G6 variants

    Li Limin, Fong Choong Yi, Tay Chee Geap, Tae Sok Kun, Suzuki Hisato, Kosaki Kenjiro, Thong Meow-Keong

    JOURNAL OF CLINICAL NEUROSCIENCE 71   289 - 292 2020.01

    Joint Work,  ISSN  0967-5868

  • A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay

    Ueno Y., Enokizono T., Fukushima H., Ohto T., Imagawa K., Tanaka M., Sakai A., Suzuki H., Uehara T., Takenouchi T., Kosaki K., Takada H.

    Human Genome Variation (Human Genome Variation)  6 ( 1 ) 25 2019.12

    Joint Work

     View Summary

    © 2019, The Author(s). Phosphatase and tensin homolog (PTEN) plays an important role in tumor suppression. A germline mutation in the PTEN gene induces not only PTEN hamartoma tumor syndrome, including Cowden syndrome, but also macrocephaly/autism syndrome. Here, we describe a boy with macrocephaly/autism syndrome harboring a novel missense heterozygous PTEN mutation, c.959T>C (p.Leu320Ser). Interestingly, a previously reported nonsense mutation resulting in p.Leu320X was found in Cowden syndrome patients. Our case may be suggestive of a genotype-phenotype correlation.

  • IFT172 as the 19th gene causative of oral-facial-digital syndrome

    Yamada M., Uehara T., Suzuki H., Takenouchi T., Fukushima H., Morisada N., Tominaga K., Onoda M., Kosaki K.

    American Journal of Medical Genetics, Part A (American Journal of Medical Genetics, Part A)  179 ( 12 ) 2510 - 2513 2019.12

    Joint Work,  ISSN  15524825

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Research Projects of Competitive Funds, etc. 【 Display / hide

  • 新規ウイルス探索を含めた川崎病患者に対するショットガンメタゲノム解析

    2022.04
    -
    2025.03

    MEXT,JSPS, Grant-in-Aid for Scientific Research, 基盤研究(C), Principal investigator

  • 超長寿者を比較対象とした肺高血圧患者の遺伝子構造異常解析とリスク評価

    2020.04
    -
    2022.03

    MEXT,JSPS, Grant-in-Aid for Scientific Research, Grant-in-Aid for Early-Career Scientists , Principal investigator

  • 食物アレルギーの発症における腸内細菌叢の役割の解明

    2017.04
    -
    2020.03

    MEXT,JSPS, Grant-in-Aid for Scientific Research, Grant-in-Aid for Young Scientists (B), Principal investigator

  • 次世代シークエンサーを用いた次世代体外診断用医薬品等の評価手法の在り方に関する研究

    2017
    -
    2019

    国立研究開発法人日本医療研究開発機構, 日本医療研究開発機構研究費, Research grant, Coinvestigator(s)

 

Social Activities 【 Display / hide

  • 筑波メディカルセンター:喘息アレルギー教室

    2012.09
    -
    Present

     View Summary

    茨城県在住の小児患者を対象に、食物アレルギー、気管支喘息、アトピー性皮膚炎などのアレルギー疾患に対する知識の普及のため、定期的な公開講座を開催する。

Memberships in Academic Societies 【 Display / hide

  • The Japan Society of Human Genetics, 

    2015
    -
    Present
  • Japanese Society of Pediatric Clinical Allergy, 

    2012
    -
    Present
  • Japanese Society of Allergology, 

    2012
    -
    Present
  • Japan Pediatric Society, 

    2011
    -
    Present