Tadashi Kaname

カナメタダシ | Tadashi Kaname

Affiliation and department：
Job title： Director

Research field (5)： Fetal medicine/Pediatrics , Genomics , Developmental biology , Cell biology , Molecular biology

Research keywords (6)：遺伝・先天異常学 , ゲノム医科学・分子遺伝学 , 発生工学 , 分子遺伝学 , developmental engineering , molecular genetics

Research theme for competitive and other funds (28)：

2021 - 2025 マイクロRNA miR-142の機能獲得型変異による白血病発症メカニズムの解明
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
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
2018 - 2023 Nager症候群における顎顔面形態異常の発生学的成因の解明
2018 - 2021 Development of a newborn ultra-rapid genome screening system beyond newborn mass screening

2017 - 2020 An effective diagnostic strategy for deaf patients in Okinawa Islands using a next-generation sequencing and exome sequencing.

2017 - 2020 Classification and pathological elucidation of Craniosynostosis by the differentiation's pattern of iPS cells

2017 - 2019 Analysis of spontaneous polycythemia model mouse "pocy" showing recessive inheritance.

2016 - 2019 Elucidation of the biological diversity of the nitric oxide synthases system

2017 - 2019 INVESTGATION TO RROVIDE A RAPID METHOD FOR GENETIC TESTING OF CONGENITAL DISEASES AND IT’S SOCIAL IMPLEMENTATION

2014 - 2017 Genetic evaluation of patients with intellectual disability using chromosomal microarray and next-generation sequencing

2014 - 2017 Establishment of next-generation comprehensive diagnostic system for patients with craniosynostosis and search for therapeutic targets

2013 - 2016 Conprehensive analysis of deafness genes in families in Okinawa islands

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 Study on causes and mechanisms of trigonocephaly syndromes using Next-generation sequencers.

2009 - 2011 High-throughput screening system for genes associated with autism spectrum disorder

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.

1997 - 1998 巨大DNA導入によるマウス人工染色体の開発

1997 - 1998 Identification of genes responsible for developmental mutant mice

1995 - 1996 IDENTIFICATION OF DEVELOPMENTAL CONTROL GENES USING YAC TRANSGENIC MICE

1992 - 1994 Production of mouse models for human diseases by gene targeting

Opitz C Syndromeの原因解析

ヒト人工染色体ベクターの構築

Identification of a Responsible Gene for Opitz C Syndrome

Construction of Human Artificial Chromosomes

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Papers (143)：

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
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
Sachi Tokunaga, Hideki Shimomura, Naoko Taniguchi, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto, Yasuhiro Takeshima. A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression. Human genome variation. 2024. 11. 1. 1-1
Takaya Iida, Arisa Igarashi, Kae Fukunaga, Taiga Aoki, Tomomi Hidai, Kumiko Yanagi, Masahiko Yamamori, Kazuhito Satou, Hayato Go, Tomoki Kosho, et al. Functional analysis of RRAS2 pathogenic variants with a Noonan-like phenotype. Frontiers in genetics. 2024. 15. 1383176-1383176
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. 2023

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MISC (249)：

赤嶺ゆかり, Millman JasmineFrances, 上間次己, 岡本士毅, 上原盛幸, 小塚智沙代, 要匡, 島袋充生, 満田昌代. 沖縄県メタボリックシンドローム保有者を対象としたランダム化比較試験による玄米発酵飲料(ノンアルコルタイプ玄米甘酒)の腸内細菌叢バランス・発酵に及ぼす効果の解析. 日本内分泌学会雑誌. 2023. 98. 4. 1199-1199
内山徹, 小原收, 要匡, 笹原洋二, 國島伸治, 石黒精. ターゲットリシーケンスによる先天性血小板減少症・異常症の原因遺伝子の同定. 日本血栓止血学会誌. 2022. 33. 2. 262-262
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
石黒精, 内山徹, 要匡, 武部淳子, 秦健一郎, 小原收, 笹原洋二, 國島伸治. 先天性血小板減少症・異常症の新しい診断体制とレジストリの確立. 日本血栓止血学会誌. 2021. 32. 2. 209-209
足立香織, 佐藤万仁, 小原收, 堤正好, 宮地勇人, 中山智祥, 古庄知己, 要匡, 原田直樹, 奥山虎之, et al. 難病領域の遺伝学的検査体制に関するアンケート調査. 日本小児遺伝学会学術集会プログラム・抄録集. 2021. 43rd

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Books (2)：

小児科診療2009年増刊号「小児の症候群」Holoprosencephaly, Holt-Oram症候群,Opitz症候群
2009
小児科診療2009年増刊号「小児の症候群」Holoprosencephaly, Holt-Oram症候群,Opitz症候群
2009

Professional career (1)：

Doctor of Medical Science (Kagoshima University)

Work history (6)：

2015/04 - 現在 National Center for Chhild Health and Development Department of Genome Medicine Director
2010/04 - - , 琉球大学医学研究科准教授
2010/04/01 - - , University of the Ryukyus, Graduate School of Medicine, Associate Professor
2002/04/01 - - , 琉球大学医学部医学科准教授
2002/04/01 - - , University of the Ryukyus, Faculty of Medicine, School of Medicine, Associate Professor

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