Rchr
J-GLOBAL ID：200901013402109311
Update date: Jul. 04, 2024
Kumiko Yanagi
ヤナギ クミコ | Kumiko Yanagi
Affiliation and department：
Job title：
Chief
Research field (4)：
Genetics
, Oral medicine (pathology)
, Genetics
, Molecular biology
Research keywords (5)：
Genomic Diagnosis
, Craniofacial Rare disease
, Undiagnosed rare disease
, massive genome analysis
, 分子遺伝学
Research theme for competitive and other funds (22)：
- 2024 - 2027 口腔領域遺伝性疾患の新規原因発見を目指した全ゲノムシーケンスデータ解析基盤の開発
- 2023 - 2024 原因不明の小児突然死の包括的死因検索を実現するための研究
- 2020 - 2023 薬剤性難聴の感受性遺伝子検索による個人差および発症機序の解明
- 2020 - 2023 MAP3K7遺伝子変異に起因する骨異形疾患における表現型異質性発症機序の解明
- 2022 - 2023 多施設において小児突然死の包括的死因検索を実現するためのパイロット研究
- 2021 - 2022 小児突然死の原因究明を目指した包括的な解析体制構築のためのパイロット研究
- 2021 - 2022 DEVELOPMENT OF ACCURATE COPY NUMBER POLYMORPHISMS DETECTION AND VISUALIZATION TOOLS FOR WHOLE EXOME SEQUENCING DATA
- 2020 - 2021 PROPOSAL OF A NEW ANALYSIS FLOW FOR DETECTING LOW LEVEL VARIANTS AND EVALUATION OF UTILITY ON GENETIC COUNSELING
- 2017 - 2019 INVESTGATION TO RROVIDE A RAPID METHOD FOR GENETIC TESTING OF CONGENITAL DISEASES AND IT’S SOCIAL IMPLEMENTATION
- 2011 - 2013 Development of personalized diagnosis systems using combination of a supporting program for clinical diagnosis of genetic diseases with HRM analysis for molecular diagnosis
- 2009 - 2011 Research on elucidation of mercury concentration in mongooses in the Nansei Islands
- 2009 - 2011 DEVELOPMENT OF
- 2009 - 2011 Study on causes and mechanisms of trigonocephaly syndromes using Next-generation sequencers.
- 2007 - 2008 奇形症候群の客観的診断法開発の試み
- 2005 - 2006 Construction and application of human artificial chromosome vectors for stable gene expression by minichromosome-modifying system.
- 2004 - 2004 分子病態解析を行うための簡便なBAC改変システムの開発
- 2003 - 2004 Construction and application of human artificial chromosome vectors for gene introduction using minichromosomes.
- 2000 - 2003 Analysis of the mechanism of membranous proteolysis and the immunoregulation for Sjogren's syndrome
- 2000 - 2001 Development of disease-specific diagnosis and immunotherapy for Sjogren's syndrome
- 2000 - 2001 自己免疫疾患老化モデルにおけるp16の解析
- 1998 - 1999 シェーグレン症候群における唾液腺特異的自己抗原エピトープの同定とその臨床応用
- 1996 - 1998 A study of molecular pathology in experimental Sjogren's syndrome in mice
Show all
Papers (86)：
-
Kenichiro Sadamitsu, Kumiko Yanagi, Yuiko Hasegawa, Yoshiko Murakami, Sean E. Low, Daikun Ooshima, Yoichi Matsubara, Nobuhiko Okamoto, Tadashi Kaname, Hiromi Hirata. A novel homozygous variant of the PIGK gene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizures. Journal of Human Genetics. 2024
-
Wataru Shimabukuro, Yasutsugu Chinen, Naoya Imanaga, Kumiko Yanagi, Tadashi Kaname, Koichi Nakanishi. Renal coloboma syndrome/dominant optic atrophy with severe retinal atrophy and de novo digenic mutations in PAX2 and OPA1. Pediatric nephrology (Berlin, Germany). 2024
-
Kensuke Ikeda, Ayane Tamagake, Takafumi Kubota, Rumiko Izumi, Tatsuo Yamaguchi, Kumiko Yanagi, Tatsuro Misu, Yoko Aoki, Tadashi Kaname, Masashi Aoki. Case Report: An Adult Case of Poretti-Boltshauser Syndrome Diagnosed by Medical Checkup. Cerebellum (London, England). 2024
-
Eriko Nishi, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto. Clinical details of individuals with Rauch-Steindl syndrome due to NSD2 truncating variants. Molecular genetics & genomic medicine. 2024. 12. 2. e2396
-
Atsushi Hijikata, Mikita Suyama, Shingo Kikugawa, Ryo Matoba, Takuya Naruto, Yumi Enomoto, Kenji Kurosawa, Naoki Harada, Kumiko Yanagi, Tadashi Kaname, et al. Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing. Nucleic acids research. 2024. 52. 1. 114-124
ｍore...
MISC (43)：
-
竹内 一朗, 柳 久美子, 高田 修治, 内山 徹, 五十嵐 ありさ, 本村 健一郎, 林 優佳, 長野 直子, 松岡 諒, 杉山 弘樹, et al. リンパ濾胞過形成を伴う好酸球性消化管疾患の発症に関与する新規STAT6機能獲得型変異. 日本小児栄養消化器肝臓学会雑誌. 2023. 37. 1. 48-49
-
Kumiko Yanagi, Eriko Nishi, Arisa Igarashi, Maki Omata, Yukimi Abe, Nana Kobayashi, Kazuhito Satou, Kanako Ishii, Nobuhiko Okamoto, Yoichi Matsubara, et al. Clinical features and molecular characterization of three Japanese patients with autosomal dominant Robinow syndrome caused by DVL3 variants. EUROPEAN JOURNAL OF HUMAN GENETICS. 2022. 30. SUPPL 1. 156-156
-
柳下 友映, 平出 拓也, 舟塚 真, 遠藤 雄策, 福田 冬希子, 山本 圭子, 宮本 雄策, 柳 久美子, 要 匡, 永田 智, et al. 日本人4人のHECW2変異に起因する障害の検討. 脳と発達. 2021. 53. Suppl. S294-S294
-
内田 佳子, 植松 悟子, 小崎 里華, 柳 久美子, 富田 慶一, 安田 真人, 天笠 俊介, 大西 志麻, 多賀谷 貴史, 佐々木 隆司, et al. 当院における院外心停止症例に対する死因究明体制. 日本小児科学会雑誌. 2021. 125. 2. 236-236
-
要 匡, 内田 佳子, 柳 久美子, 大西 志麻, 富田 慶一, 安田 真人, 天笠 俊介, 多賀谷 貴史, 佐々木 隆司, 小崎 里華, et al. 突然死症例に対する網羅的ゲノム解析の有用性. 日本小児科学会雑誌. 2021. 125. 2. 236-236
ｍore...
Books (1)：
-
Online eBook Library : Nelson Textbook of Pediatrics, 21st ed.
ELSEVIER 2021
Lectures and oral presentations (5)：
-
A novel mechanism for developing multiple allergic symptoms including severe atopic dermatitis, food allergy, asthma, and eosinophilic gastroenteritis, and a potential for development of molecular targeted drug
(2023)
-
Clinical features and molecular characterization of three Japanese patients with autosomal dominant Robinow syndrome caused by DVL3 variants.
(European Society of Human Genetics 2021 2021)
-
A novel variant located within guanine nucleotide-binding site of GNAI3
(American Society of Human Genetics 2020 2020)
-
A patient with cardiospondylocarpofacial syndrome caused by dominant negative effect of a novel variant in MAP3K7.
(American Society of Human Genetics 2019 2019)
-
次世代シーケンサーを用いた実際の業務と今後の課題・展望
(第35回日本染色体遺伝子検査学会学術集会シンポジウム 2017)
Professional career (1)：
- Doctor of Dental Science (The University of Tokushima)
Work history (6)：
Association Membership(s) (4)：
European Society of Human Genetics
, Japanese Society for Gene Diagnosis and Therapy
, The Molecular Biology Society of Japan
, The Japan Society of Human Genentics
