KINOSHITA Akira 木下晃

… Alternative Names

木下晃キノシタアキラ

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Researcher Number	60372778
Other IDs
External Links
Affiliation (Current)	2025: 長崎大学, 原爆後障害医療研究所, 准教授
Affiliation (based on the past Project Information) *help	2021 – 2023: 長崎大学, 原爆後障害医療研究所, 准教授 2019 – 2020: 長崎大学, 原爆後障害医療研究所, 講師 2012 – 2017: 長崎大学, 原爆後障害医療研究所, 講師 2011: 長崎大学, 大学院・医歯薬学総合研究科, 講師 2007 – 2010: 長崎大学, 大学院・医歯薬学総合研究科, 助教 2005: 長崎大, 医歯(薬)学総合研究科, 助手 2004: 長崎大学, 大学院・医歯薬学総合研究科, 助手
Review Section/Research Field	Principal Investigator Human genetics / Basic Section 56020:Orthopedics-related / Basic Section 56060:Ophthalmology-related / Orthopaedic surgery Except Principal Investigator Human genetics / Biological Sciences
Keywords	Principal Investigator CRISPR/Cas9法 / 骨系統疾患 / ゲノム編集 / 次世代型シーケンサー / TGF-β1 / キメラマウス / モデルマウス / ヒストンメチル化 / Mhyre症候群 / 液相分離 … More / IDR / ヒストンメチル化酵素 / Smad3 / TGFシグナル / Myhre syndrome / 角膜再生 / 角膜 / 無虹彩症 / 前眼部組織 / 新規転写開始点 / RNA-seq / ITPR1 / Gillespie syndrome / YAP / フォーカルアドヒージョン / アクチン繊維 / 角膜内皮 / 神経堤細胞 / イノシトール1,4,5三リン酸受容体I型 / 無虹彩 / Gillespie症候群 / カムラチ・エンゲルマン病( / 患者iPS細胞 / カムラチ・エンゲルマン病 / iPS細胞 / カムラチ-エンゲルマン病 / ユビキチン化 / 炎症 / IL-6 / 細胞ストレス / ユビキチン化タンパク質 / 中条-西村症候群 / ノックインマウス / β5iサブユニット / 中條－西村症候群 / ジーンターゲッティング / PSMB8 / 中條-西村症候群 / 自己炎症性疾患 / プロテアソーム / リアルタイムPCR法 / gene targeting / Marfan症候群タイプ2 / TGF受容体2型 / transforming growth factor β1 / Loeys-Dietz syndrome type 2B / Camuratii-Engelmann Disease / 細胞外マトリックスタンパク質 / TGF receptor type II / transforming factor / Marfan syndrome Type II / Camuratii-Enelmann Disease / 細胞外マトリックス / ES細胞 / TGF受容体2型(TGFBR2) / Transforming Growth Factorβ1 (TGFB1) / ジーンターゲテイング法 / Marfan症候群 / TGF2型受容体 / 顕微受精 / Camurati-Engelmann病 / TGF-beta1 … More Except Principal Investigator 歌舞伎症候群 / Human Whole Genome SNP 6.0 / 全ゲノムシーケンス / Human Whole Genome SNP6.0 / uniparental disomy / 片親性ダイソミー / 分子遺伝学 / 軟口蓋裂 / 脳動静脈奇形 / 遺伝子座マッピング / 骨髄異形成症 / SOLiD / emulsion PCR / 筋萎縮性側索硬化症 / エキソンキャプチャー法 / 次世代型シーケンサー / ゲノム医科学 / 精神遅滞症 / Kabuki make-up症候群 / 家族性心房中隔欠損症 / 染色体構造異常 / 一過性運動誘発性コレオアテトーシス / 特発性手掌多汗症 / 遺伝子単離 / 合指症 / 多指趾症 / 染色体 / 因子疾患 / 疾患感受性遺伝子 / 関連解析 / 多因子疾患 / 単因子疾患 / 連鎖解析 / 疾患遺伝子 / 染色体異常 Less

骨系統疾患治療のゲームチェンジャー:ヒストン修飾を標的にした治療法の開発Principal Investigator
- Principal Investigator
  
  木下晃
- Project Period (FY)
  2023 – 2025
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 56020:Orthopedics-related
- Research Institution
  Nagasaki University
Is an eye-specific transcript revealed by comprehensive expression analysis a novel key player in corneal regeneration?Principal Investigator
- Principal Investigator
  
  KINOSHITA Akira
- Project Period (FY)
  2019 – 2022
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 56060:Ophthalmology-related
- Research Institution
  Nagasaki University
Development of new treatments for bone dysplasia caused by a mutation in TGFB1 utilizing patient-derived iPS cellsPrincipal Investigator
- Principal Investigator
  
  KINOSHITA Akira
- Project Period (FY)
  2015 – 2017
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Orthopaedic surgery
- Research Institution
  Nagasaki University
Proteasome dysfunction and autoinflammatory diseases: A novel pathogenic mechanism caused by cell stress.Principal Investigator
- Principal Investigator
  
  KINOSHITA Akira
- Project Period (FY)
  2012 – 2014
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Human genetics
- Research Institution
  Nagasaki University
Identification of microUPD and analysis of DNA repair in early development
- Principal Investigator
  
  YOSHIURA Koichiro
- Project Period (FY)
  2010 – 2011
- Research Category
  
  Grant-in-Aid for Challenging Exploratory Research
- Research Field
  
  Human genetics
- Research Institution
  Nagasaki University
Mapping of the disease loci using SNP genotyping and identification of the gene by the sequence capture method
- Principal Investigator
  
  YOSHIURA Koichiro
- Project Period (FY)
  2009 – 2011
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Human genetics
- Research Institution
  Nagasaki University
Genetic disorders caused by the aberration of TGF signaling pathway and extracellular matrix proteinsPrincipal Investigator
- Principal Investigator
  
  KINOSHITA Akira
- Project Period (FY)
  2008 – 2010
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Human genetics
- Research Institution
  Nagasaki University
A family-analysis-based search for genes susceptible to mono-, oligo- and polygenic disorders
- Principal Investigator
  
  NIIKAWA Norio
- Project Period (FY)
  2005 – 2009
- Research Category
  
  Grant-in-Aid for Scientific Research on Priority Areas
- Review Section
  
  Biological Sciences
- Research Institution
  Health Sciences University of Hokkaido
  Nagasaki University
骨リモデリング研究のためのモデルマウスの作製と確立Principal Investigator
- Principal Investigator
  
  木下晃
- Project Period (FY)
  2004 – 2005
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Human genetics
- Research Institution
  Nagasaki University

[Journal Article] Proline-rich transmembrane protein 2 knock-in mice present dopamine-dependent motor deficits2023
- Author(s)
  Hatta Daisuke、Kanamoto Kaito、Makiya Shiho、Watanabe Kaori、Kishino Tatsuya、Kinoshita Akira、Yoshiura Koh-Ichiro、Kurotaki Naohiro、Shirotani Keiro、Iwata Nobuhisa
- Journal Title
  
  The Journal of Biochemistry
  
  Volume: 174 Issue: 6 Pages: 561-570
- DOI
  10.1093/jb/mvad074
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-21K07296, KAKENHI-PROJECT-21K07848, KAKENHI-PROJECT-23K08680, KAKENHI-PROJECT-21H02809
[Journal Article] Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma Transforming into Diffuse Large B-Cell Lymphoma in a Young Adult Patient with Neurofibromatosis Type 1: A Case Report2022
- Author(s)
  Kosako Hideki、Yamashita Yusuke、Tanaka Ken、Mishima Hiroyuki、Iwamoto Ryuta、Kinoshita Akira、Murata Shin-ichi、Ohshima Koichi、Yoshiura Koh-ichiro、Sonoki Takashi、Tamura Shinobu
- Journal Title
  
  Medicina
  
  Volume: 58 Issue: 12 Pages: 1830-1830
- DOI
  10.3390/medicina58121830
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K08718, KAKENHI-PROJECT-21K07800, KAKENHI-PROJECT-22K16308, KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-20K17405
[Journal Article] Alvocidib inhibits IRF4 expression via super‐enhancer suppression and adult T‐cell leukemia/lymphoma cell growth2022
- Author(s)
  Sakamoto Hikaru、Ando Koji、Imaizumi Yoshitaka、Mishima Hiroyuki、Kinoshita Akira、Kobayashi Yuji、Kitanosono Hideaki、Kato Takeharu、Sawayama Yasushi、Sato Shinya、Hata Tomoko、Nakashima Masahiro、Yoshiura Koh‐Ichiro、Miyazaki Yasushi
- Journal Title
  
  Cancer Science
  
  Volume: 113 Issue: 12 Pages: 4092-4103
- DOI
  10.1111/cas.15550
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-21K07800, KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-20K07424, KAKENHI-PROJECT-20K08886
[Journal Article] Identification of unique DNA methylation sites in Kabuki syndrome using whole genome bisulfite sequencing and targeted hybridization capture followed by enzymatic methylation sequencing2022
- Author(s)
  Hamaguchi Yo、Mishima Hiroyuki、Kawai Tomoko、Saitoh Shinji、Hata Kenichiro、Kinoshita Akira、Yoshiura Koh-ichiro
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 67 Issue: 12 Pages: 711-720
- DOI
  10.1038/s10038-022-01083-4
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21K07800, KAKENHI-PROJECT-20H03591, KAKENHI-PROJECT-19K09993
[Journal Article] Hydroxychloroquine suppresses anti-GBM nephritis via inhibition of JNK/p38 MAPK signaling2022
- Author(s)
  Torigoe Miki、Obata Yoko、Inoue Hiro、Torigoe Kenta、Kinoshita Akira、Koji Takehiko、Mukae Hiroshi、Nishino Tomoya
- Journal Title
  
  Clinical and Experimental Nephrology
  
  Volume: 27 Issue: 2 Pages: 110-121
- DOI
  10.1007/s10157-022-02285-y
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-20K07246
[Journal Article] <i>Itpr1</i> regulates the formation of anterior eye segment tissues derived from neural crest cells2021
- Author(s)
  Kinoshita Akira、Ohyama Kaname、Tanimura Susumu、Matsuda Katsuya、Kishino Tatsuya、Negishi Yutaka、Asahina Naoko、Shiraishi Hideaki、Hosoki Kana、Tomiwa Kiyotaka、Ishihara Naoko、Mishima Hiroyuki、Mori Ryoichi、Nakashima Masahiro、Saitoh Shinji、Yoshiura Koh-ichiro
- Journal Title
  
  Development
  
  Volume: 148 Issue: 16 Pages: 188755-188755
- DOI
  10.1242/dev.188755
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K21583, KAKENHI-PROJECT-21H04853, KAKENHI-PROJECT-20H03591, KAKENHI-PROJECT-20H03646, KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-20K08886, KAKENHI-PROJECT-21K06069, KAKENHI-PROJECT-21K07800, KAKENHI-PROJECT-20K20617
[Journal Article] A Patient with Kabuki Syndrome Mutation Presenting with Very Severe Aplastic Anemia2021
- Author(s)
  Tamura Shinobu、Kosako Hideki、Furuya Yoshiaki、Yamashita Yusuke、Mushino Toshiki、Mishima Hiroyuki、Kinoshita Akira、Nishikawa Akinori、Yoshiura Ko-Ichiro、Sonoki Takashi
- Journal Title
  
  Acta Haematologica
  
  Volume: 145 Issue: 1 Pages: 89-96
- DOI
  10.1159/000518227
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-20K08718, KAKENHI-PROJECT-21K07800, KAKENHI-PROJECT-20K17405
[Journal Article] Progressive Massive Splenomegaly in an Adult Patient with Kabuki Syndrome Complicated with Immune Thrombocytopenic Purpura2021
- Author(s)
  Mushino Toshiki、Hiroi Takayuki、Yamashita Yusuke、Suzaki Norihiko、Mishima Hiroyuki、Ueno Masaki、Kinoshita Akira、Minami Koichi、Imai Kohsuke、Yoshiura Ko-ichiro、Sonoki Takashi、Tamura Shinobu
- Journal Title
  
  Intern. Med.
  
  Volume: 60 Issue: 12 Pages: 1927-1933
- DOI
  10.2169/internalmedicine.6694-20
- NAID
  130008052635
- ISSN
  0918-2918, 1349-7235
- Year and Date
  2021-06-15
- Language
  English
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K17868, KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-18K07850, KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-20K08718, KAKENHI-PROJECT-20K17405
[Journal Article] A unique missense variant in the E1A-binding protein P400 gene is implicated in schizophrenia by whole-exome sequencing and mutant mouse models2021
- Author(s)
  Yoshiro Morimoto, Shinji Ono, Shintaro Yoshida, Hiroyuki Mishima, Akira Kinoshita, Takeshi Tanaka, Yoshihiro Komohara, Naohiro Kurotaki, Tatsuya Kishino, Yuji Okazaki, Hiroki Ozawa, Koh-ichiro Yoshiura, Akira Imamura
- Journal Title
  
  Translational Psychiatry
  
  Volume: 11 Issue: 1 Pages: 132-132
- DOI
  10.1038/s41398-021-01258-1
- NAID
  120007000270
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08050, KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-19K22913, KAKENHI-PROJECT-20K16650, KAKENHI-PROJECT-18KK0245, KAKENHI-PROJECT-20H03591, KAKENHI-PROJECT-18K07850
[Journal Article] Brothers with novel compound heterozygous mutations in COL27A1 causing dental and genital abnormalities2021
- Author(s)
  Satoh Chisei、Kondoh Tatsuro、Shimizu Hitomi、Kinoshita Akira、Mishima Hiroyuki、Nishimura Gen、Miyazaki Mutsuko、Okano Kunihiko、Kumai Yoshihiko、Yoshiura Koh-ichiro
- Journal Title
  
  European Journal of Medical Genetics
  
  Volume: 64 Issue: 2 Pages: 104125-104125
- DOI
  10.1016/j.ejmg.2020.104125
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-19K22913, KAKENHI-PROJECT-18KK0245, KAKENHI-PROJECT-18K07850
[Journal Article] Comprehensive analysis for detecting radiation-specific molecules expressed during radiation-induced rat thyroid carcinogenesis.2021
- Author(s)
  Kurohama H, Matsuda K, Kishino M, Yoshino M, Yamaguchi Y, Matsuu-Matsuyama M, Kondo H, Mitsutake N, Kinoshita A, Yoshiura KI, Nakashima M.
- Journal Title
  
  J Radiat Res.
  
  Volume: 62 Issue: Supplement_1 Pages: i78-i87
- DOI
  10.1093/jrr/rraa139
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K07471, KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-20K07424, KAKENHI-PROJECT-20K08886, KAKENHI-PROJECT-20K21718
[Journal Article] Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency2021
- Author(s)
  Kanazawa N, Hemmi H, Kinjo N, Ohnishi H, Hamazaki J, M.H, K.A, M.T, H.S, K.N, K.S, H.Y, I.K, N.R, T.M, Y.Y, T.S, O.T, O.T, K.T, S.I, F.Y, W.N, I.Y, K.K, O.S, T.T, N.K, M.S, Y.K, Kaisho T
- Journal Title
  
  Nature Communications
  
  Volume: 12 Issue: 1 Pages: 0-0
- DOI
  10.1038/s41467-021-27085-y
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K07062, KAKENHI-PROJECT-19K07628, KAKENHI-PROJECT-19K08299, KAKENHI-PROJECT-20K16289, KAKENHI-ORGANIZER-18H05497, KAKENHI-PLANNED-18H05500, KAKENHI-PROJECT-18H04022, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-20H03505, KAKENHI-PROJECT-20H03591, KAKENHI-PROJECT-21J22615, KAKENHI-PROJECT-19K08754, KAKENHI-PROJECT-19K08798, KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-20K08718, KAKENHI-PROJECT-21K06956, KAKENHI-PROJECT-21K07770, KAKENHI-PROJECT-21K07800, KAKENHI-PROJECT-21K19384, KAKENHI-PROJECT-20K17405
[Journal Article] Expression of unfolded protein response markers in the pheochromocytoma with Waardenburg syndrome: a case report2020
- Author(s)
  Morita Shuhei、Takeshima Ken、Ariyasu Hiroyuki、Furukawa Yasushi、Kishimoto Shohei、Tsuji Tomoya、Uraki Shinsuke、Mishima Hiroyuki、Kinoshita Akira、Takahashi Yuichi、Inaba Hidefumi、Iwakura Hiroshi、Furuta Hiroto、Nishi Masahiro、Doi Asako、Murata Shin-ichi、Yoshiura Koh-ichiro、Akamizu Takashi
- Journal Title
  
  BMC Endocrine Disorders
  
  Volume: 20 Issue: 1 Pages: 90-90
- DOI
  10.1186/s12902-020-00574-9
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-19K22913, KAKENHI-PROJECT-20K17518, KAKENHI-PROJECT-18KK0245, KAKENHI-PROJECT-18K07850
[Journal Article] Targeting Adaptive IRE1α Signaling and PLK2 in Multiple Myeloma: Possible Anti-Tumor Mechanisms of KIRA8 and Nilotinib.2020
- Author(s)
  Yamashita Y, Morita S, Hosoi H, Kobata H, Kishimoto S, Ishibashi T, Mishima H, Kinoshita A, Backes BJ, Yoshiura KI, Papa FR, Sonoki T, Tamura S
- Journal Title
  
  Int J Mol Sci.
  
  Volume: Aug 31;21(17) Issue: 17 Pages: 6314-6314
- DOI
  10.3390/ijms21176314
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K08821, KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-20K08718, KAKENHI-PROJECT-19K22913, KAKENHI-PROJECT-20K17405, KAKENHI-PROJECT-18KK0245, KAKENHI-PROJECT-20H03591, KAKENHI-PROJECT-19K17839
[Journal Article] Genome analysis of myelodysplastic syndromes among atomic bomb survivors in Nagasaki2019
- Author(s)
  Taguchi M, Mishima H, Shiozawa Y, Hayashida C, Kinoshita A, Nannya Y, Makishima H, Horai M, Matsuo M, Sato S, Itonaga H, Kato T, Taniguchi H, Imanishi D, Imaizumi Y, Hata T, Takenaka M, Moriuchi Y, Shiraishi Y, Miyano S, Ogawa S, Yoshiura K-i, Miyazaki Y
- Journal Title
  
  Haematologica
  
  Volume: 105 Issue: 2 Pages: 358-365
- DOI
  10.3324/haematol.2019.219386
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07850, KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-19K22913, KAKENHI-PROJECT-17K16189, KAKENHI-PROJECT-18KK0245, KAKENHI-PLANNED-15H05909, KAKENHI-PROJECT-19H05656, KAKENHI-PROJECT-19H01053, KAKENHI-PROJECT-17H04209, KAKENHI-PROJECT-16KT0112
[Journal Article] Target Capture/Next-Generation Sequencing for Nonsyndromic Cleft Lip and Palate in the Japanese Population2019
- Author(s)
  Shibano Masayasu、Watanabe Akira、Takano Nobuo、Mishima Hiroyuki、Kinoshita Akira、Yoshiura Koh-ichiro、Shibahara Takahiko
- Journal Title
  
  The Cleft Palate-Craniofacial Journal
  
  Volume: 57 Issue: 1 Pages: 80-87
- DOI
  10.1177/1055665619857650
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07850, KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-19K22913, KAKENHI-PROJECT-18KK0245, KAKENHI-PROJECT-16KT0112
[Journal Article] Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities2019
- Author(s)
  Morimoto Y, Yoshida S, Kinoshita A, Satoh C, Mishima H, Yamaguchi N, Matsuda K, Sakaguchi M, Tanaka T, Komohara Y, Imamura A, Ozawa H, Nakashima M, Kurotaki N, Kishino T, Yoshiura K, Ono S
- Journal Title
  
  Neurology
  
  Volume: 92 Issue: 20
- DOI
  10.1212/wnl.0000000000007505
- NAID
  120006987711
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K07088, KAKENHI-PROJECT-18K07850, KAKENHI-PROJECT-19K08050, KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-19K22913, KAKENHI-PROJECT-18KK0245, KAKENHI-PROJECT-16KT0112, KAKENHI-PROJECT-17K10276, KAKENHI-PROJECT-17K10309
[Journal Article] Immunofluorescence analysis of DNA damage response protein p53-binding protein 1 in a case of uterine dedifferentiated leiomyosarcoma arising from leiomyoma.2019
- Author(s)
  Matsuda K, Akazawa Y, Yamaguchi Y, Mussazhanova Z, Kurohama H, Ueki N, Kohno M, Fukushima A, Kajimura I, Hiraki H, Matsuwaki T, Kawashita S, Kinoshita A, Nakashima M
- Journal Title
  
  Pathology, research and practice
  
  Volume: 215 Issue: 11 Pages: 152640-152640
- DOI
  10.1016/j.prp.2019.152640
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K09993
[Journal Article] Whole-exome sequencing and gene-based rare variant association tests suggest that PLA2G4E might be a risk gene for panic disorder. Transl Psychiatry.2018
- Author(s)
  Morimoto Y, Shimada-Sugimoto M, Otowa T, Yoshida S, Kinoshita A, Mishima H, Yamaguchi N, Mori T, Imamura A, Ozawa H, Kurotaki N, Ziegler C, Domschke K, Deckert J, Umekage T, Tochigi M, Kaiya H, Okazaki Y, Tokunaga K, Sasaki T, Yoshiura KI, Ono S.
- Journal Title
  
  Transl Psychiatry
  
  Volume: 8 Issue: 1 Pages: 41-41
- DOI
  10.1038/s41398-017-0088-0
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16KT0112, KAKENHI-PROJECT-16H05159, KAKENHI-PROJECT-15K10481, KAKENHI-PROJECT-26461721, KAKENHI-PROJECT-17K10276, KAKENHI-PROJECT-17K10309, KAKENHI-PROJECT-16K10190, KAKENHI-PROJECT-16K10193
[Journal Article] Clonal dynamics in a case of acute monoblastic leukemia that later developed myeloproliferative neoplasm.2018
- Author(s)
  Sato S, Itonaga H, Taguchi M, Sawayama Y, Imanishi D, Tsushima H, Hata T, Moriuchi Y, Mishima H, Kinoshita A, Yoshiura KI, Miyazaki Y.
- Journal Title
  
  Int J Hematol.
  
  Volume: - Issue: 2 Pages: 213-217
- DOI
  10.1007/s12185-018-2419-1
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15K10481, KAKENHI-PROJECT-16KT0112, KAKENHI-PROJECT-17K16189, KAKENHI-PROJECT-16H05159, KAKENHI-PROJECT-17H04209
[Journal Article] Detection of de novo single nucleotide variants in offspring of atomic-bomb survivors close to the hypocenter by whole-genome sequencing.2018
- Author(s)
  Horai M, Mishima H, Hayashida C, Kinoshita A, Nakane Y, Matsuo T, Tsuruda K, Yanagihara K, Sato S, Imanishi D, Imaizumi Y, Hata T, Miyazaki Y, Yoshiura KI.
- Journal Title
  
  J Hum Genet.
  
  Volume: 63 Issue: 3 Pages: 357-363
- DOI
  10.1038/s10038-017-0392-9
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16KT0112, KAKENHI-PROJECT-16H05159, KAKENHI-PROJECT-15K10481, KAKENHI-ORGANIZER-18H05505, KAKENHI-PLANNED-18H05506
[Journal Article] Deep sequencing reveals variations in somatic cell mosaic mutations between monozygotic twins with discordant psychiatric disease.2017
- Author(s)
  Morimoto Y, Ono S, Imamura A, Okazaki Y, Kinoshita A, Mishima H, Nakane H, Ozawa H, Yoshiura KI, Kurotaki N.
- Journal Title
  
  Hum Genome Var.
  
  Volume: 4 Issue: 1 Pages: 17032-17032
- DOI
  10.1038/hgv.2017.32
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16KT0112, KAKENHI-PROJECT-17K10276, KAKENHI-PROJECT-17K10309, KAKENHI-PROJECT-16H05159, KAKENHI-PROJECT-15K10481, KAKENHI-PROJECT-26461721, KAKENHI-PROJECT-16K10190
[Journal Article] Generation and characterization of a conditional allele of Interferon Regulatory Factor 6.2017
- Author(s)
  Smith AL, Kousa YA, Kinoshita A, Fodor K, Yang B, Schutte BC.
- Journal Title
  
  Genesis.
  
  Volume: 55 Issue: 7
- DOI
  10.1002/dvg.23038
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K10481
[Journal Article] Ultra-sensitive droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndrome.2016
- Author(s)
  Uchiyama Y, Nakashima M, Watanabe S, Miyajima M, Taguri M, Miyatake S, Miyake N, Saitsu H, Mishima H, Kinoshita A, Arai H, Yoshiura K, Matsumoto N.
- Journal Title
  
  Scientific Reports
  
  Volume: 6 Issue: 1 Pages: 22985-22985
- DOI
  10.1038/srep22985
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K10481, KAKENHI-PROJECT-25430183, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-16H05357
[Journal Article] Rapid growth of mitotically active cellular fibroma of the ovary: a case report and review of the literature.2016
- Author(s)
  Matsuda K, Tateishi S, Akazawa Y, Kinoshita A, Yoshida S, Morisaki S, Fukushima A, Matsuwaki T, Yoshiura KI, Nakashima M.
- Journal Title
  
  Diagn Pathol.
  
  Volume: 11(1) Issue: 1 Pages: 101-101
- DOI
  10.1186/s13000-016-0554-7
- NAID
  120006987629
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16H05159, KAKENHI-PROJECT-16KT0112, KAKENHI-PROJECT-15K10481
[Journal Article] Expression of Somatostatin Receptor Type 2A and PTEN in Neuroendocrine Neoplasms Is Associated with Tumor Grade but Not with Site of Origin.2016
- Author(s)
  Wada H, Matsuda K, Akazawa Y, Yamaguchi Y, Miura S, Ueki N, Kinoshita A, Yoshiura K, Kondo H, Ito M, Nagayasu T, Nakashima M.
- Journal Title
  
  Endocr Pathol.
  
  Volume: 27(3) Issue: 3 Pages: 179-187
- DOI
  10.1007/s12022-016-9436-5
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05159, KAKENHI-PROJECT-16KT0112, KAKENHI-PROJECT-15K08379, KAKENHI-PROJECT-15K10481, KAKENHI-PROJECT-16K08702
[Journal Article] Germline mutations causing familial lung cancer.2015
- Author(s)
  Tomoshige K, Matsumoto K, Tsuchiya T, Oikawa M, Miyazaki T, Yamasaki N, Mishima H, Kinoshita A, Kubo T, Fukushima K, Yoshiura K, Nagayasu T.
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 60 Issue: 10 Pages: 597-603
- DOI
  10.1038/jhg.2015.75
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15K10481, KAKENHI-PROJECT-25430183, KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-25293084
[Journal Article] カムラチ・エンゲルマン病2015
- Author(s)
  木下　晃
- Journal Title
  
  日本臨床
  
  Volume: 73 Pages: 2149-2159
- Data Source
  KAKENHI-PROJECT-15K10481
[Journal Article] Single human papillomavirus 16 or 52 infection and later cytological findings in Japanese women with NILM or ASC-US.2014
- Author(s)
  Abe S, Miura K, Kinoshita A, Mishima H, Miura S, Yamasaki K, Hasegawa Y, Higashijima A, Jo O, Yoshida A, Kaneuchi M, Yoshiura K, Masuzaki H.
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 59 (5) Issue: 5 Pages: 251-255
- DOI
  10.1038/jhg.2014.9
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-24590403, KAKENHI-PROJECT-24791711, KAKENHI-PROJECT-25293084, KAKENHI-PROJECT-25430183, KAKENHI-PROJECT-25861498, KAKENHI-PROJECT-26462495
[Journal Article] Identification of endometrioid endometrial carcinoma-associated microRNAs in tissue and plasma.2014
- Author(s)
  Tsukamoto O, Miura K, Mishima H, Abe S, Kaneuchi M, Higashijima A, Miura S, Kinoshita A, Yoshiura K, Masuzaki H.
- Journal Title
  
  Gynecologic Oncology
  
  Volume: 132 (3) Issue: 3 Pages: 715-721
- DOI
  10.1016/j.ygyno.2014.01.029
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-24590403, KAKENHI-PROJECT-25293084, KAKENHI-PROJECT-25430183, KAKENHI-PROJECT-25462563, KAKENHI-PROJECT-25861498, KAKENHI-PROJECT-26462495
[Journal Article] Genome-wide association study of HPV-associated cervical cancer in Japanese women.2014
- Author(s)
  Miura K, Mishima H, Kinoshita A, Hayashida C, Abe S, Tokunaga K, Masuzaki H, Yoshiura KI.
- Journal Title
  
  Journal of Medical Virology
  
  Volume: 86 (7) Issue: 7 Pages: 1153-1158
- DOI
  10.1002/jmv.23943
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-24590403, KAKENHI-PROJECT-25293084, KAKENHI-PROJECT-25430183, KAKENHI-PROJECT-25462563, KAKENHI-PROJECT-25550033, KAKENHI-PROJECT-26462495, KAKENHI-PROJECT-221S0002
[Journal Article] Predominantly placenta-expressed mRNAs in maternal plasma as predictive markers for twin-twin transfusion syndrome2014
- Author(s)
  Miura K, Higashijima A, Miura S, Mishima H, Yamasaki K, Abe S, Hasegawa Y, Kaneuchi M, Yoshida A, Kinoshita A, Yoshiura KI, Masuzaki H.
- Journal Title
  
  Prenatal Diagnosis
  
  Volume: 34 Issue: 4 Pages: 345-349
- DOI
  10.1002/pd.4307
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23592406, KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-24590403, KAKENHI-PROJECT-24791712, KAKENHI-PROJECT-25293084, KAKENHI-PROJECT-25430183, KAKENHI-PROJECT-25462563, KAKENHI-PROJECT-26462495
[Journal Article] Initial viral load in cases of single human papillomavirus 16 or 52 persistent infection is associated with progression of later cytopathological findings in the uterine cervix2013
- Author(s)
  Hamaguchi D, Miura K, Abe S, Kinoshita A, Miura S, Yamasaki K, Yoshiura K, Masuzaki H
- Journal Title
  
  Journal of Medical Virology
  
  Volume: 85 Issue: 12 Pages: 2093-2100
- DOI
  10.1002/jmv.23709
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23592406, KAKENHI-PROJECT-24590403, KAKENHI-PROJECT-24791711, KAKENHI-PROJECT-24791712, KAKENHI-PROJECT-25462563, KAKENHI-PROJECT-25550033
[Journal Article] Characterization of placenta-specific microRNAs in fetal growth restriction pregnancy2013
- Author(s)
  Higashijima A
- Journal Title
  
  Prenat Diagn
  
  Volume: 33 Issue: 3 Pages: 214-222
- DOI
  10.1002/pd.4045
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22591827, KAKENHI-PROJECT-24590403, KAKENHI-PROJECT-24791711, KAKENHI-PROJECT-25462563
[Journal Article] Copy number variation of the antimicrobial-gene, defensin beta 4, is associated with susceptibility to cervical cancer.2013
- Author(s)
  Abe, S, Miura, K, Kinoshita, A, Mishima, H, Miura, S, Yamasaki, K, Hasegawa, Y, Higashijima, A, Jo, O, Sasaki, K, Yoshida, A, Yoshiura, KI, Masuzaki.
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 58 Issue: 5 Pages: 250-253
- DOI
  10.1038/jhg.2013.7
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-13J11173, KAKENHI-PROJECT-22591827, KAKENHI-PROJECT-23592406, KAKENHI-PROJECT-23791230, KAKENHI-PROJECT-24590403, KAKENHI-PROJECT-24791711, KAKENHI-PROJECT-24791712, KAKENHI-PROJECT-25293084, KAKENHI-PROJECT-25462563
[Journal Article] The role of Irf6 in tooth epithelial invagination.2012
- Author(s)
  Blackburn J, Ohazama A, Kawasaki K, Otsuka-Tanaka Y, Liu B, Honda K, Rountree R, Hu Y, Kawasaki M, Birchmeier W, Schmidt-Ullrich R, Kinoshita A, Schutte B, Hammond N, Dixon M, Sharpe P.
- Journal Title
  
  Developmental Biology
  
  Volume: 365 Issue: 1 Pages: 61-70
- DOI
  10.1016/j.ydbio.2012.02.009
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24590403
[Journal Article] Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familialinfantile convulsions.2012
- Author(s)
  Ono S, Yoshiura K , KinoshitaA, Kikuchi T, Nakane Y, Kato N,Sadamatsu M , Konishi T , Nagamitsu S , Matsuura M, Yasuda A, KomineM, Kanai K , Inoue T , Osamura T , Saito K , Hirose S, Koide H, Tomita H , Ozawa H , Niikawa N and Kurotaki N.
- Journal Title
  
  J Hum Genet
  
  Volume: 57 Issue: 5 Pages: 1-4
- DOI
  10.1038/jhg.2012.23
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249062, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-22390066, KAKENHI-PROJECT-23659529, KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-24590403, KAKENHI-PROJECT-24659535, KAKENHI-PROJECT-22591263, KAKENHI-PLANNED-22132004, KAKENHI-PLANNED-24116007
[Journal Article] Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair2012
- Author(s)
  Nakazawa Y, Sasaki K, Mitsutake N, Yamashita S, Ogi T, et al
- Journal Title
  
  Nat Genet
  
  Volume: 44(5) Issue: 5 Pages: 586-92
- DOI
  10.1038/ng.2229
- NAID
  120006985586
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22390189, KAKENHI-PROJECT-22710056, KAKENHI-PROJECT-22791204, KAKENHI-PROJECT-23510065, KAKENHI-PROJECT-23590355, KAKENHI-PROJECT-24300328, KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-24590403, KAKENHI-PROJECT-24659533, KAKENHI-PROJECT-24681008, KAKENHI-PROJECT-24790321
[Journal Article] An assembly defect due to a PSMB8 mutation reduces proteasome activity and causes autoinflammatory disorder, Nakajo-Nishimura syndrome2011
- Author(s)
  Arima K, Kinoshita A, Mishima H, Kanazawa N, KanekoT, Mizushima T, Ichinose K, Nakamura H, Tsujino A, Kawakami A, Matsunaka M, Kasagi S, Kawano S, Kumagai S, Ohmura K, Mimori T, Hirano M, Ueno S, Tanaka K, Tanaka M, Toyoshima I, Sugino H, Yamakawa A, Tana
- Journal Title
  
  ProcNatlAcadSci
  
  Volume: 108(36) Pages: 14914-14919
- Data Source
  KAKENHI-PROJECT-22659071
[Journal Article] Mutation and copy number analysis in paroxysmal kinesigenic dyskinesia families.2011
- Author(s)
  Ono S, Yoshiura KI, Kurotaki N, Kikuchi T, Niikawa N, Kinoshita A
- Journal Title
  
  MovDisord. (Epub ahead of print).
- Data Source
  KAKENHI-PROJECT-20590331
[Journal Article] Pre-vaccination epidemiology of human papillomavirus infections in Japanese women with abnormal cytology2011
- Author(s)
  Yamasaki K, Miura K, Shimada T, Ikemoto R, Miura S, Murakami M, Sameshima T, Fujishita A, Kotera K, Kinoshita A, Yoshiura KI, Masuzaki H.
- Journal Title
  
  ObstetGynaecol Res
  
  Volume: 37(11) Pages: 1666-1670
- NAID
  120006985461
- Data Source
  KAKENHI-PROJECT-22659071
[Journal Article] Epidemiology of human papillomavirus genotypes in pregnant Japanese women2011
- Author(s)
  Yamasaki K, Miura K, Shimada T, Miura S, Abe S, Murakami M, Sameshima T, Fujishita A, Kotera K, Kinoshita A, Yoshiura K, Masuzaki H
- Journal Title
  
  J Hum Genet
  
  Volume: 56(4) Pages: 313-315
- NAID
  10030658951
- Data Source
  KAKENHI-PROJECT-21390100
[Journal Article] Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders2011
- Author(s)
  Miura K, Higashijima A, Shimada T, Miura S, Yamasaki K, Abe S, Jo O, Kinoshita A, Yoshida A, Yoshimura S, Niikawa N, Yoshiura K, Masuzaki H.
- Journal Title
  
  J Hum Genet
  
  Volume: 56(4) Pages: 296-299
- NAID
  10030658849
- Data Source
  KAKENHI-PROJECT-22659071
[Journal Article] Mutationand Copy Number Analysis in Paroxysmal Kinesigenic DyskinesiaFamilies2011
- Author(s)
  Ono S, Yoshiura K, Kurotaki N, Kikuchi T, Niikawa N, Kinoshita A.
- Journal Title
  
  Movement Disorders
  
  Volume: 26(4) Pages: 762-764
- Data Source
  KAKENHI-PROJECT-22659071
[Journal Article] Surfactant protein C G100S mutation causes familial pulmonary fibrosis in Japanese kindred2011
- Author(s)
  Ono S, Tanaka T, Ishida M, Kinoshita A, Fukuoka J, Takaki M, Sakamoto N, Ishimatsu Y, Kohno S, Hayashi T, Senba M, Yasunami M, Kubo Y, Yoshida LM, Kubo H, Ariyoshi K, Yoshiura K, Morimoto K
- Journal Title
  
  Eur Respir J
  
  Volume: 38(4) Pages: 861-869
- Data Source
  KAKENHI-PROJECT-21390100
[Journal Article] An assembly defect due to a PSMB8 mutation reduces proteasome activity and causes autoinflammatory disorder, Nakajo-Nishimura syndrome2011
- Author(s)
  Arima K, Kinoshita A, Mishima H, Kanazawa N, KanekoT, Mizushima T, Ichinose K, Nakamura H, Tsujino A, Kawakami A, Matsunaka M, Kasagi S, Kawano S, Kumagai S, Ohmura K, Mimori T, Hirano M, Ueno S, Tanaka K, Tanaka M, Toyoshima I, Sugino H, Yamakawa A, Tana K, Niikawa N, Furukawa F, Shigeo Murata S, Eguchi K, Ida H, Yoshiura K
- Journal Title
  
  Proc Natl Acad Sci
  
  Volume: 108(36) Pages: 14914-14919
- Data Source
  KAKENHI-PROJECT-21390100
[Journal Article] Mutation and Copy Number Analysis in Paroxysmal Kinesigenic Dyskinesia Families2011
- Author(s)
  Ono S, Yoshiura K, Kurotaki N, Kikuchi T, Niikawa N, Kinoshita A
- Journal Title
  
  Movement Disorders
  
  Volume: 26(4) Pages: 762-764
- Data Source
  KAKENHI-PROJECT-21390100
[Journal Article] Intracystic Papillary Carcinoma of Breast Harbors Significant Genomic Alteration Compared with Intracystic Papilloma : Genome-wide Copy Number and LOH Analysis Using High-Density Single-Nucleotide Polymorphism Microarrays2011
- Author(s)
  Oikawa M, Nagayasu T, Yano H, Hayashi T, Abe K, Kinoshita A, Yoshiura KI
- Journal Title
  
  Breast J
  
  Volume: 17(4) Pages: 427-430
- NAID
  120006985138
- Data Source
  KAKENHI-PROJECT-21390100
[Journal Article] Intracystic Papillary Carcinoma of Breast Harbors Significant Genomic Alteration Compared with Intracystic Papilloma : Genome-wide Copy Number and LOH Analysis Using High-Density Single-Nucleotide Polymorphism Microarrays2011
- Author(s)
  Oikawa M, Nagayasu T, Yano H, Hayashi T, Abe K, Kinoshita A, Yoshiura KI.
- Journal Title
  
  Breast J
  
  Volume: 17(4) Pages: 427-430
- NAID
  120006985138
- Data Source
  KAKENHI-PROJECT-22659071
[Journal Article] No evidence of association between 8q24 and susceptibility to nonsyndromic cleft lip with or without palate in Japanese population2011
- Author(s)
  Hikida M, Tsuda M, Watanabe A
- Journal Title
  
  Cleft Palate Craniofac J
  
  Volume: (掲截確定) Issue: 6 Pages: 714-717
- DOI
  10.1597/10-242
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22792018, KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-24590403
[Journal Article] Surfactant protein C G100S mutation causes familial pulmonary fibrosis in Japanese kindred2011
- Author(s)
  Ono S, Tanaka T, Ishida M, Kinoshita A, Fukuoka J, Takaki M, Sakamoto N, Ishimatsu Y, Kohno S, Hayashi T, Senba M, Yasunami M, Kubo Y, Yoshida LM, Kubo H, Ariyoshi K, Yoshiura K, Morimoto K.
- Journal Title
  
  EurRespir J
  
  Volume: 38(4) Pages: 861-869
- Data Source
  KAKENHI-PROJECT-22659071
[Journal Article] Epidemiology of human papillomavirus genotypes in pregnant Japanese women.2011
- Author(s)
  Yamasaki K, Miura K, Shimada T, Miura S, Abe S, Murakami M, Sameshima T, Fujishita A, Kotera K, Kinoshita A, Yoshiura KI, Masuzaki H
- Journal Title
  
  J Hum Genet. (Epub ahead of print).
- NAID
  10030658951
- Data Source
  KAKENHI-PROJECT-20590331
[Journal Article] Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders2011
- Author(s)
  Miura K, Higashijima A, Shimada T, Miura S, Yamasaki K, Abe S, Jo O, Kinoshita A, Yoshida A, Yoshimura S, Niikawa N, Yoshiura K, Masuzaki H
- Journal Title
  
  J Hum Genet
  
  Volume: 56(4) Pages: 296-299
- NAID
  10030658849
- Data Source
  KAKENHI-PROJECT-21390100
[Journal Article] Pre-vaccination epidemiology of human papillomavirus infections in Japanese women with abnormal cytology2011
- Author(s)
  Yamasaki K, Miura K, Shimada T, Ikemoto R, Miura S, Murakami M, Sameshima T, Fujishita A, Kotera K, Kinoshita A, Yoshiura KI, Masuzaki H
- Journal Title
  
  J Obstet Gynaecol Res
  
  Volume: 37(11) Pages: 1666-1670
- NAID
  120006985461
- Data Source
  KAKENHI-PROJECT-21390100
[Journal Article] Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders.2011
- Author(s)
  Miura K, Higashi jima A, Shimada T, Miura S, Yamasaki K, Abe S, Jo O, Kinoshita A, Yoshida A, Yoshimura S, Niikawa N, Yoshiura KI, Masuzaki H
- Journal Title
  
  J Hum Genet. (Epub ahead of print).
- NAID
  10030658849
- Data Source
  KAKENHI-PROJECT-20590331
[Journal Article] Epidemiology of human papillomavirus genotypes in pregnant Japanese women2011
- Author(s)
  Yamasaki K, Miura K, Shimada T, Miura S, Abe S, Murakami M, Sameshima T, Fujishita A, Kotera K, Kinoshita A, Yoshiura K, Masuzaki H.
- Journal Title
  
  J Hum Genet
  
  Volume: 56(4) Pages: 313-315
- NAID
  10030658951
- Data Source
  KAKENHI-PROJECT-22659071
[Journal Article] A type of familial cleft of the soft palate maps to 2p24.2-p24.1 or 2p21-p122010
- Author(s)
  Tsuda M, Yamada T, Mikoya T, Sogabe I, Nakashima M, Kishino T, Kinoshita A, Niikawa N, Hirano A, Yoshiura K
- Journal Title
  
  J Hum Genet 55
  
  Pages: 124-126
- NAID
  10030733799
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17019055
[Journal Article] The possibility of microarray-based analysis using cell-free placental mRNA in maternal plasma2010
- Author(s)
  Miura K, Miura S, Yamasaki K, Shimada T, Kinoshita A, Niikawa N, Yoshiura K, Masuzaki H
- Journal Title
  
  Prenatal Diagnosis
  
  Volume: 30 Pages: 849-861
- Data Source
  KAKENHI-PROJECT-21390100
[Journal Article] The possibility of microarray-based analysis using cell-free placental mRNA in maternal plasma2010
- Author(s)
  Miura K, Miura S, Yamasaki K, Shimada T, Kinoshita A, Niikawa N, Yoshiura K, Masuzaki H.
- Journal Title
  
  Prenatal Diagnosis
  
  Volume: 30 Pages: 849-861
- Data Source
  KAKENHI-PROJECT-22659071
[Journal Article] Familial brain arteriovenous malformation maps to 5p13-q14, 15q11-q13 or 18p11 : linkage analysis with clipped fingernail DNA on high-density SNP array2010
- Author(s)
  Oikawa M, Kuniba H, Kondoh T, Kinoshita A, Nagayasu T, Niikawa N, Yoshiura K
- Journal Title
  
  Eur J Med Genet
  
  Volume: 53(5) Pages: 244-249
- NAID
  120006984921
- Data Source
  KAKENHI-PROJECT-21390100
[Journal Article] Familial brain arteriovenous malformation maps to 5p13-q14, 15q11-q13 or 18p11: Linkage analysis with clipped fingernail DNA on high-density SNP array.2010
- Author(s)
  Oikawa M, Kuniba H, Kondoh T, Kinoshita A, Nagayasu T, Niikawa N, Yoshiura KI
- Journal Title
  
  Eur J Med Genet. 53(5)
  
  Pages: 244-249
- NAID
  120006984921
- Data Source
  KAKENHI-PROJECT-20590331
[Journal Article] A type of familial cleft of the soft palate maps to 2p24.2-p24.1 or 2p21-p12.2010
- Author(s)
  Tsuda M, Yamada T, Mikoya T, Sogabe I, Nakashima M, Minakami H, Kishino T, Kinoshita A, Niikawa N, Hirano A, Yoshiura K
- Journal Title
  
  J Hum Genet. 55(2)
  
  Pages: 124-126
- NAID
  10030733799
- Data Source
  KAKENHI-PROJECT-20590331
[Journal Article] A type of familial cleft of the soft palate maps to 2p24. 2-p24. 1 or 2p21-p122010
- Author(s)
  Tsuda M, Yamada T, Mikoya T, Sogabe I, Nakashima M, Minakami H, Kishino T, Kinoshita A, Niikawa N, Hirano A, Yoshiura K.
- Journal Title
  
  J Hum Genet
  
  Volume: 55(2) Pages: 124-126
- Data Source
  KAKENHI-PROJECT-22659071
[Journal Article] A type of familial cleft of the soft palate maps to 2p24. 2-p24. 1 or 2p21-p122010
- Author(s)
  Tsuda M, Yamada T, Mikoya T, Sogabe I, Nakashima M, Minakami H, Kishino T, Kinoshita A, Niikawa N, Hirano A, Yoshiura K
- Journal Title
  
  J Hum Genet
  
  Volume: 55(2) Pages: 124-126
- Data Source
  KAKENHI-PROJECT-21390100
[Journal Article] Identification of Pregnancy-Associated MicroRNAs in Maternal Plasma2010
- Author(s)
  Miura K, Miura S, Yamasaki K, Higashijima A, Kinoshita A, Yoshiura KI, Masuzaki H
- Journal Title
  
  Clin Chem
  
  Volume: 56(11) Pages: 1767-1771
- Data Source
  KAKENHI-PROJECT-21390100
[Journal Article] TGFシグナル異常による骨・軟骨疾患-単一遺伝病からありふれた疾患まで2010
- Author(s)
  木下晃
- Journal Title
  
  医学のあゆみ
  
  Volume: 234(10) Pages: 987-992
- Data Source
  KAKENHI-PROJECT-20590331
[Journal Article] Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjogren syndrome2010
- Author(s)
  Takahata T, Yamada K, Yamada Y, Ono S, Kinoshita A, Matsuzaka T, Yoshiura KI, Kitaoka T
- Journal Title
  
  J Hum Genet
  
  Volume: 55(3) Pages: 142-146
- NAID
  10030733893
- Data Source
  KAKENHI-PROJECT-21390100
[Journal Article] Identification of Pregnancy-Associated MicroRNAs in Maternal Plasma2010
- Author(s)
  Miura K, Miura S, Yamasaki K, Higashijima A, Kinoshita A, Yoshiura KI, Masuzaki H.
- Journal Title
  
  ClinChem
  
  Volume: 56(11) Pages: 1767-1771
- Data Source
  KAKENHI-PROJECT-22659071
[Journal Article] Identification of Pregnancy-Associated MicroRNAs in Maternal Plasma.2010
- Author(s)
  Miura K, Miura S, Yamasaki K, Higashijima A, Kinoshita A, Yoshiura KI, Masuzaki H
- Journal Title
  
  Clin Chem. 56(11)
  
  Pages: 1767-1771
- Data Source
  KAKENHI-PROJECT-20590331
[Journal Article] Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjogren syndrome.2010
- Author(s)
  Takahata T, Yamada K, Yamada Y, Ono S, Kinoshita A, Matsuzaka T, Yoshiura K, Kitaoka T
- Journal Title
  
  J Hum Genet. 55(3)
  
  Pages: 142-146
- NAID
  10030733893
- Data Source
  KAKENHI-PROJECT-20590331
[Journal Article] The possibility of microarray-based analysis using cell-free placental mRNA in maternal plasma.2010
- Author(s)
  Miura K, Miura S, Yamasaki K, Shimada T, Kinoshita A, Niikawa N, Yoshiura K, Masuzaki H
- Journal Title
  
  PrenatDiagn. 30(9)
  
  Pages: 849-861
- Data Source
  KAKENHI-PROJECT-20590331
[Journal Article] Familial brain arteriovenous malformation maps to 5p13-q14, 15q11-q13 or 18p11 : linkage analysis with clipped fingernail DNA on high-density SNP array2010
- Author(s)
  Oikawa M, Kuniba H, Kondoh T, Kinoshita A, Nagayasu T, Niikawa N, Yoshiura K.
- Journal Title
  
  Eur J Med Genet
  
  Volume: 53(5) Pages: 244-249
- NAID
  120006984921
- Data Source
  KAKENHI-PROJECT-22659071
[Journal Article] Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjogren syndrome2010
- Author(s)
  Takahata T, Yamada K, Yamada Y, Ono S, Kinoshita A, Matsuzaka T, Yoshiura KI, Kitaoka T.
- Journal Title
  
  J Hum Genet
  
  Volume: 55(3) Pages: 142-146
- NAID
  10030733893
- Data Source
  KAKENHI-PROJECT-22659071
[Journal Article] Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome2009
- Author(s)
  Kuniba H, Yoshiura K, Kondoh T, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Kaname T, Naritomi K, Matsumoto T, Moriuchi H, Kishino T, Kinoshita A, Miyake N, Matsumoto N, Niikawa N
- Journal Title
  
  J Hum Genet
  
  Volume: 54(5) Pages: 304-309
- NAID
  10030730501
- Data Source
  KAKENHI-PROJECT-21390100
[Journal Article] Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome2009
- Author(s)
  Kuniba H, Yoshiura K, Kondoh T, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Kaname T, Naritomi K, Matsumoto T, Moriuchi H, Kishino T, Kinoshita A, Miyake N, Matsumoto N, Niikawa N.
- Journal Title
  
  J Hum Genet
  
  Volume: 54(5) Pages: 304-309
- NAID
  10030730501
- Data Source
  KAKENHI-PROJECT-22659071
[Journal Article] Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.2009
- Author(s)
  Kuniba H, Yoshiura K, Kondoh T, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Kaname T, Naritomi K, Matsumoto T, Moriuchi H, Kishino T, Kinoshita A, Miyake N, Matsumoto N, Niikawa N
- Journal Title
  
  J Hum Genet. 54(5)
  
  Pages: 304-309
- NAID
  10030730501
- Data Source
  KAKENHI-PROJECT-20590331
[Journal Article] Developmentally dynamic changes of DNA methylation in the mouse Snurf/Snrpn gene2009
- Author(s)
  Miyazaki K, Mapendano CK, Fuchigami Y, Kondo S, Ohta T, Kinoshita A, Tsukamoto K, Yoshiura K, Niikawa N, Kishino T
- Journal Title
  
  Gene 432
  
  Pages: 97-101
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17019055
[Journal Article] Developmentally dynamic changes of DNA methylation in the mouse Snurf/Snrpn gene.2009
- Author(s)
  Miyazaki K, Mapendano CK, Fuchigami T, Kondo S, Ohta T, Kinoshita A, Tsukamoto K, Yoshiura K, Niikawa N, Kishino T
- Journal Title
  
  Gene. 432(1-2)
  
  Pages: 97-101
- Data Source
  KAKENHI-PROJECT-20590331
[Journal Article] Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome2009
- Author(s)
  Kuniba H, Yoshiura K, Kondoh T, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Kaname T, Naritomi K, Matsumoto T, Moriuchi H, Kishino T, Kinoshita A, Miyake N, Matsumoto N, Niikawa N
- Journal Title
  
  J Hum Genet 54
  
  Pages: 304-309
- NAID
  10030730501
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17019055
[Journal Article] Japanese map of the earwax gene frequency: a nation-wide collaborative study by Super Science High School (SSH) Consortium.2009
- Author(s)
  Yoshiura K, Kinoshita A, Ohta T, Niikawa N, et al
- Journal Title
  
  J Hum Genet 54
  
  Pages: 499-503
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17019055
[Journal Article] Developmentally dynamic changes of DNA methylation in the mouse Snurf/ Snrpn gene2009
- Author(s)
  Miyazaki K, Mapendano CK, Fuchigami T, Kondo S, Ohta T, Kinoshita A, Tsukamoto K, Yoshiura KI, Niikawa N, Kishino T.
- Journal Title
  
  Gene
  
  Volume: 432(1-2) Pages: 97-101
- Data Source
  KAKENHI-PROJECT-22659071
[Journal Article] Developmentally dynamic changes of DNA methylation in the mouse Snurf/ Snrpn gene2009
- Author(s)
  Miyazaki K, Mapendano CK, Fuchigami T, Kondo S, Ohta T, Kinoshita A, Tsukamoto K, Yoshiura KI, Niikawa N, Kishino T
- Journal Title
  
  Gene
  
  Volume: 432(1-2) Pages: 97-101
- Data Source
  KAKENHI-PROJECT-21390100
[Journal Article] Precision of high-throughput single-nucleotide polymorphism genotyping with fingernail DNA : comparison with blood DNA2008
- Author(s)
  Nakashima M, Tsuda M, Kishino T, Kondoh S, Kinoshita A, Shimokawa O, Niikawa N, Yoshiura K
- Journal Title
  
  Clin Chem 54
  
  Pages: 1746-1748
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17019055
[Journal Article] Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan.2008
- Author(s)
  Kuniba H, Tsuda M, Nakashima M, Miura S, Miyake N, Kondoh T, Matsumoto T, Moriuchi H, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Naritomi K, Matsumoto N, Kinoshita A, Yoshiura KI, Niikawa N
- Journal Title
  
  J Med Genet. 45(7)
  
  Pages: 479-480
- NAID
  120006983369
- Data Source
  KAKENHI-PROJECT-20590331
[Journal Article] Precision of high-throughput single-nucleotide polymorphism genotyping with fingernail DNA : comparison with blood DNA.2008
- Author(s)
  Nakashima M, Tsuda M, Kinoshita A, Kishino T, Kondo S, Shimokawa O, Niikawa N, Yoshiura K
- Journal Title
  
  ClinChemi. 54(10)
  
  Pages: 1746-1748
- Data Source
  KAKENHI-PROJECT-20590331
[Journal Article] Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan.2008
- Author(s)
  Kuniba H, Kinoshita A, Yoshiura K, Niikawa N, et al
- Journal Title
  
  J Med Genet 45(7)
  
  Pages: 479-480
- NAID
  120006983369
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17019055
[Journal Article] Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan2008
- Author(s)
  Kuniba H, Tsuda M, Nakashima M, Miura S, Miyake N, Kondoh T, Matsumoto T, Moriuchi H, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Naritomi K, Matsumoto N, Kinoshita A, Yoshiura K, Niikawa N
- Journal Title
  
  J Med Genet 45
  
  Pages: 479-480
- NAID
  120006983369
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17019055
[Journal Article] Role of DNA methylation and histone H3 lysine 27 methylation in tissue-specific imprinting of mouse Grb102007
- Author(s)
  Yamasaki Y, Kayashima T, Mapendano CK, Soejima H, Ohta T, Masuzaki H, Kinoshita A, Urano T, Yoshiura K, Matsumoto N, Ishimaru T, Mukai T, Niikawa N, Kishino T
- Journal Title
  
  Mol Cell Biol 27(2)
  
  Pages: 732-742
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17019055
[Journal Article] Congenital arhinia: Molecular-genetic analysis of five patients.2007
- Author(s)
  Sato D, Kinoshita A, Niikawa N, Yoshiura K, et al
- Journal Title
  
  Am J Med Genet 143A
  
  Pages: 546-552
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17019055
[Journal Article] Congenital arhinia: Molecular-genetic analysis of five patients2007
- Author(s)
  Sato D, Shimokawa O, Harada N, OlsenOE, Hou J-W, Muhlbauer W, Blinkenberg E, Okamoto N, Kinoshita A, Matsumoto N, Kondo S, Kishino T, Miwa N, Niikawa N, Yoshiura K
- Journal Title
  
  Am J Med Genet 143A
  
  Pages: 546-552
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17019055
[Journal Article] Role of DNA methylation and histone H3 lysine 27 methylation in tissue-specific imprinting of mouse Grb102007
- Author(s)
  YamasaKi Y, Kayashima T, Mapendano CK, Soejima H, Ohta T, Masuzaki H, Kinoshita A, Urano T, Yoshiura K, Matsumoto N, Ishimaru T, Mukai T, Niikawa N, Kishino T
- Journal Title
  
  Moleculr Cell Biology 27 (2)
  
  Pages: 732-742
- Data Source
  KAKENHI-PROJECT-17019055
[Journal Article] Congenital arhinia : Molecular-genetic analysis of five patients2007
- Author(s)
  Sato D, Shimokawa O, Harada N, OlsenOE, Hou J-W, Muhlbauer W, Blinkenberg E, Okamoto N, Kinoshita A, Matsumoto N, Kondo S, Kishino T, Miwa N, Niikawa N, Yoshiura K
- Journal Title
  
  American Journal of Medical Genetics (in press)
- Data Source
  KAKENHI-PROJECT-17019055
[Journal Article] SNP in the ABCC11 gene is the determinant of human earwax type.2006
- Author(s)
  Yoshiura K, Kinoshita A, Ohta T, Niikawa N, et al
- Journal Title
  
  Nat Genet 38
  
  Pages: 324-330
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17019055
[Journal Article] PAX9 and TGFB3 are susceptible to nonsyndromic cleft lip with or without cleft palate in the Japanese: Population-based and family-based candidate gene analyses.2006
- Author(s)
  Ichikawa E, Kinoshita A, Niikawa N, Yoshiura K, et al
- Journal Title
  
  J Hum Genet 51(1)
  
  Pages: 38-46
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17019055
[Journal Article] Molecular characterization of del(8)(p23. 1p23. 1) in a case of congenital diaphragmatic hernia.2005
- Author(s)
  Shimokawa O, Ohta T, Kinoshita A, Yoshiura K, Niikawa N, et al
- Journal Title
  
  Am J Med Genet 136A
  
  Pages: 49-51
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17019055
[Journal Article] Identification of a 3. 0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1. 9-Mb microdeletion.2005
- Author(s)
  Visser R, Kinoshita A, Ohta T, Niikawa N, et al
- Journal Title
  
  Am J Hum Genet 76(1)
  
  Pages: 52-67
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17019055
[Journal Article] Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome.2005
- Author(s)
  Miyake N, Kinoshita A, Yoshiura K, Niikawa N, et al
- Journal Title
  
  Am J Med Genet 135A
  
  Pages: 103-105
- NAID
  120006981060
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17019055
[Journal Article] TGFB1 mutations in four new families with Camurati-Engelmann disease : Confirmation of independently arising LAP-domain-specific mutations.2004
- Author(s)
  Kinoshita A., et al.
- Journal Title
  
  American Journal of Medical Genetics 127A(1)
  
  Pages: 104-107
- Data Source
  KAKENHI-PROJECT-16790197
[Journal Article] TGFシグナル異常による骨・軟骨疾患-単一遺伝病からありふれた疾患まで医学のあゆみ
- Author(s)
  木下晃
- Journal Title
  
  234(10)
  
  Pages: 987-992
- Data Source
  KAKENHI-PROJECT-20590331
[Presentation] Mutations in the patients with NNS-like autoinflammatory diseases2016
- Author(s)
  Akira Kinoshita
- Organizer
  The 13th International Congress of Human Genetics
- Place of Presentation
  Kyoto International Conference Center (京都府・京都市）
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K10481
[Presentation] Mutations in the patients with NNS-like autoinflammatory diseases2016
- Author(s)
  Akira Kinoshita
- Organizer
  International Congress of Human Genetics
- Place of Presentation
  国立京都国際会（京都府・京都市）
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K10481
[Presentation] 中條-西村症候群様自己炎症性疾患の変異解析2015
- Author(s)
  木下　晃
- Organizer
  第６０回日本人類遺伝学会
- Place of Presentation
  京王プラザホテル（東京都・新宿区）
- Year and Date
  2015-10-14
- Data Source
  KAKENHI-PROJECT-15K10481
[Presentation] 免疫プロテアソームの形成以上と活性低下により自己炎症疾患中條-西村症候群が発症する2011
- Author(s)
  木下晃, その他
- Organizer
  第56回日本人類遺伝学会
- Place of Presentation
  幕張メッセ
- Data Source
  KAKENHI-PROJECT-21390100
[Presentation] 免疫プロテアソームの形成以上と活性低下により自己炎症疾患中條-西村症候群が発症する2011
- Author(s)
  木下晃, その他
- Organizer
  第56回日本人類遺伝学会
- Place of Presentation
  幕張メッセ
- Data Source
  KAKENHI-PROJECT-22659071
[Presentation] HELLP症候群と関連した胎盤特異的microRNAの網羅的解析2010
- Author(s)
  三浦清徳, 東島愛, 三浦生子, 山崎健太郎, 阿部修平, 城大空, 長谷川ゆり, 中山大介, 木下晃, 吉浦孝一郎, 増崎英明
- Organizer
  第55回日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-20590331
[Presentation] ウイルス感染防御遺伝子のコピー数多型とHPV持続感染に関する検討2010
- Author(s)
  阿部修平, 三浦清徳, 木下晃, 山崎健太郎, 三浦生子, 嶋田貴子, 吉浦孝一郎, 増崎英明
- Organizer
  第55回日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-20590331
[Presentation] SFTPC遺伝子変異を認めた家族制肺線維証の一家系2010
- Author(s)
  小野慎治, 田中健之, 木下晃, 石田雅之, 森本浩之輔, 吉浦孝一郎
- Organizer
  第55回日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-20590331
[Presentation] 子宮内膜癌特異的microRNAの網羅的スクリーニング2010
- Author(s)
  城大空, 三浦清徳, 東島愛, 三浦生子, 山崎健太郎, 阿部修平, 増崎雅子, 長谷川ゆり, 木下晃, 吉浦孝一郎, 増崎英明
- Organizer
  第55回日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-20590331
[Presentation] 唇顎口蓋裂のGenome-wide associationstudy2010
- Author(s)
  引田正宣, 津田雅由, 佐々木健作, 三嶋博之, 吉田和加, 夏目長門, 内山健志, 平野明喜, 木下晃, 吉浦孝一郎
- Organizer
  第55回日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-20590331
[Presentation] 母体血中における胎盤特異的microRNA群の網羅的スクリーニング2010
- Author(s)
  東島愛, 三浦清徳, 三浦生子, 山崎健太郎, 阿部修平, 城大空, 長谷川ゆり, 中山大介, 木下晃, 吉浦孝一郎, 増崎英明
- Organizer
  第55回日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-20590331
[Presentation] 全胞状奇胎に特異的なmicroRNAの網羅的スクリーニング2010
- Author(s)
  長谷川ゆり, 三浦清徳, 東島愛, 城大空, 阿部修平, 三浦生子, 増崎雅子, 山崎健太郎, 木下晃, 吉浦孝一郎, 増崎英明
- Organizer
  第55回日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-20590331
[Presentation] 唇裂口蓋裂のGenome-wide association study.2010
- Author(s)
  引田正宣, 津田雅由, 佐々木健作, 三嶋博之, 吉田和加, 夏目長門, 内山健志, 平野明喜, 木下晃, 吉浦孝一郎
- Organizer
  日本人類遺伝学会
- Place of Presentation
  大宮ソニックシティー
- Year and Date
  2010-10-29
- Data Source
  KAKENHI-PROJECT-22659071
[Presentation] 発作性運動誘発性アテトーゼ(PKC)の変異解析2009
- Author(s)
  小野慎治, 菊池妙子, 木下晃, 小澤寛樹, 新川詔夫, 吉浦孝一郎
- Organizer
  第54回日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-20590331
[Presentation] ヒト疾患モデルとしてのinterferon regulatory factor 6遺伝子改変マウスの表現型解析2009
- Author(s)
  木下晃, Brian C.Schutte, 吉浦孝一郎
- Organizer
  第16回日本遺伝子診療学会
- Data Source
  KAKENHI-PROJECT-20590331
[Presentation] ヒト疾患モデルとしてのinterferon regulatory factor 6遺伝子改変マウスの表現型解析2009
- Author(s)
  木下晃, Brian C.Schutte, 吉浦孝一郎
- Organizer
  第16回遺伝子診療学会
- Place of Presentation
  ホテル札幌ガーデンプレース
- Year and Date
  2009-07-31
- Data Source
  KAKENHI-PROJECT-20590331
[Presentation] 歌舞伎メーキャップ症候群の染色体転座・微細欠失内の候補遺伝子解析2007
- Author(s)
  国場英雄、霜川修、Liag Desheng、Xia Jiahui、木下晃、吉浦孝一郎、原田直樹、近藤達郎、大橋博文、黒澤健司、福島義光、成富研二、新川詔夫
- Organizer
  第52回日本人類遺伝学会
- Place of Presentation
  東京京王プラザホテル
- Data Source
  KAKENHI-PROJECT-17019055

1. YOSHIURA Koh-Ichiro (00304931)

# of Collaborated Projects: 4 results

# of Collaborated Products: 57 results
2. OHTA Tohru (10223835)

# of Collaborated Projects: 2 results

# of Collaborated Products: 9 results
3. NIIKAWA Norio (00111170)

# of Collaborated Projects: 2 results

# of Collaborated Products: 26 results
4. MISHIMA Hiroyuki (10513319)

# of Collaborated Projects: 2 results

# of Collaborated Products: 7 results
5. KINOSHITA Naoe (50380928)

# of Collaborated Projects: 2 results

# of Collaborated Products: 9 results
6. MIWA Nobutomo (30419626)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
7. TSUJINO Akira (70423639)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
8. OGI Tomoo (80508317)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
9. ARIMA Kazuhiko (30423635)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
10. IDA Hiroaki (60363496)

# of Collaborated Projects: 1 results

# of Collaborated Products: 3 results
11. KANAZAWA Nobuo (90343227)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
12. 小路武彦 (30170179)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
13. 大山要 (50437860)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
14. 谷村進 (90343342)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
15. SASAKI Kensaku

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
16. MIURA Kiyonori

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
17. 田村志宣

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
18. 斉藤伸治

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
19. 小野慎治

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
20. 渡邊章

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
21. 中島正洋

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
22. 廣瀬伸一

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
23. 齋藤亮

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
24. 井上隆司

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
25. 園木孝志

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
26. 城谷圭朗

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
27. 坂口美亜子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
28. 光武範吏

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
29. 山下俊一

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
30. 濱崎純

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

KINOSHITA Akira 木下 晃

木下 晃 キノシタ アキラ

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骨系統疾患治療のゲームチェンジャー:ヒストン修飾を標的にした治療法の開発Principal Investigator

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Is an eye-specific transcript revealed by comprehensive expression analysis a novel key player in corneal regeneration?Principal Investigator

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Development of new treatments for bone dysplasia caused by a mutation in TGFB1 utilizing patient-derived iPS cellsPrincipal Investigator

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Proteasome dysfunction and autoinflammatory diseases: A novel pathogenic mechanism caused by cell stress.Principal Investigator

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Identification of microUPD and analysis of DNA repair in early development

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Mapping of the disease loci using SNP genotyping and identification of the gene by the sequence capture method

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Genetic disorders caused by the aberration of TGF signaling pathway and extracellular matrix proteinsPrincipal Investigator

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A family-analysis-based search for genes susceptible to mono-, oligo- and polygenic disorders

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骨リモデリング研究のためのモデルマウスの作製と確立Principal Investigator

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[Journal Article] Proline-rich transmembrane protein 2 knock-in mice present dopamine-dependent motor deficits2023

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[Journal Article] Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma Transforming into Diffuse Large B-Cell Lymphoma in a Young Adult Patient with Neurofibromatosis Type 1: A Case Report2022

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[Journal Article] Alvocidib inhibits IRF4 expression via super‐enhancer suppression and adult T‐cell leukemia/lymphoma cell growth2022

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[Journal Article] Identification of unique DNA methylation sites in Kabuki syndrome using whole genome bisulfite sequencing and targeted hybridization capture followed by enzymatic methylation sequencing2022

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[Journal Article] Hydroxychloroquine suppresses anti-GBM nephritis via inhibition of JNK/p38 MAPK signaling2022

KINOSHITA Akira 木下晃

木下晃キノシタアキラ