YANAGI Kumiko 柳久美子

… Alternative Names

柳久美子ヤナギクミコ

YANAGAI Kumiko 柳久美子

Less

Researcher Number	90294701
Other IDs
Affiliation (Current)	2022: 国立研究開発法人国立成育医療研究センター, ゲノム医療研究部, 研究員
Affiliation (based on the past Project Information) *help	2020: 国立研究開発法人国立成育医療研究センター, ゲノム医療研究部, 研究員 2013: 琉球大学, 大学院医学研究科, 助教 2011: 琉球大学, 大学院・医学研究科, 助教 2010 – 2011: 琉球大学, 医学研究科, 助教 2009: 国立大学法人琉球大学, 医学部, 助教 … More 2009: University of the Ryukyus, 医学部・医科遺伝学分野, 助教 2007 – 2008: 琉球大学, 医学部, 助教 2003 – 2006: 琉球大学, 医学部, 助手 1997 – 2000: 徳島大学, 歯学部, 助手 Less
Review Section/Research Field	Principal Investigator Morphological basic dentistry / Human genetics / Basic Section 57020:Oral pathobiological science-related Except Principal Investigator Pediatrics / 病態科学系歯学(含放射線系歯学) / Human genetics / Biological Sciences / Morphological basic dentistry / Experimental pathology / Basic Section 56050:Otorhinolaryngology-related
Keywords	Principal Investigator シェーグレン症候群 / 自己抗原 / T細胞エピトープ / B細胞エピトープ / 分子遺伝学 / PCR-高精度融解曲線分析法 / 遺伝子診断 / 自閉症スペクトラム / 特異的顔貌 / 心脊椎手根骨顔症候群(CSCF) … More / 前頭・骨幹端異形成症(FMD) / MAP3K7 / 単一遺伝性疾患 / 表現型異質性 / 網羅的遺伝学的解析 / ゼブラフィッシュ / 先天奇形疾患 / 心脊椎手根骨顔症候群 / 頭・骨幹端異形成症 … More Except Principal Investigator シェーグレン症候群 / BAC / DT40 / 奇形症候群 / 遺伝子 / 疾患モデル / NFS / 自己抗原 / α-フォドリン / Sjogren's syndrome / Autoantigen / α-fodrin / 自己免疫疾患 / Cre / ヒト人工染色体 / sldマウス / 自己反応性T細胞 / T細胞エピトープ / アポトーシス / Animal model / Apoptosis / 遺伝子治療 / human artificial chromosomes / chromosome X / site specific recombination / gene therapy / position effect / 老化 / p16 / 唾液腺 / モデルマウス / loxPシステム / レポーター遺伝子 / 相補性試験 / 機能的遺伝子クローニング / トランスクリプトーム解析 / Aarskog-Scott症候群 / Opitz三角頭蓋症候群 / Kabuki make-up症候群 / Aarskog-Scott症侯群 / ゲノム / 次世代シーケンサー / マイクロアレイ / 診断用ソフトウェア / 高精度融解曲線分析法 / 次世代シーケンサ / B細胞エピトープ / Fas抗原 / Bcl-2フアミリー / シェ-グレン症候群 / Fusion protein / Cleavage / Therapeutic effect / Sjogren syndrome / sld mouse / Autoreactive T cells / T cell epitope / B cell epitope / alpha-fodrin / カスパーゼ / エストロジェン欠乏 / アナログペプチド / 末梢トレランス / deletin mutagenesis法 / 実験的治療 / 膜骨格タンパク / Caspase / Fas Ligand / AICD / Estrogen-deficiency / 特異的診断法 / ELISA法 / α-fodrin遺伝子 / リコンビナント蛋白 / 特異的治療法 / 抗原エピトープ / 高感度ELISA / autoimmune disease / autoantigen / specific diagnostic system / ELISA assay / α-fodrin cDNA / fusion protein / peptide-based immunotherapy / X染色体 / 部位特異的組換え / 相同組換え / homologous recombination / 発現制御 / ミニ染色体 / loxP / 薬剤感受性遺伝子 / 白金製剤 / 聴力障害 / 遺伝子多型 / 小児固形腫瘍 Less

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
- Principal Investigator
  
  守本倫子
- Project Period (FY)
  2020 – 2022
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 56050:Otorhinolaryngology-related
- Research Institution
  National Center for Child Health and Development
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Principal Investigator
- Principal Investigator
  
  柳久美子
- Project Period (FY)
  2020 – 2022
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 57020:Oral pathobiological science-related
- Research Institution
  National Center for Child Health and Development
Development of personalized diagnosis systems using combination of a supporting program for clinical diagnosis of genetic diseases with HRM analysis for molecular diagnosis
- Principal Investigator
  
  NARITOMI Kenji
- Project Period (FY)
  2011 – 2013
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  University of the Ryukyus
High-throughput screening system for genes associated with autism spectrum disorderPrincipal Investigator
- Principal Investigator
  
  YANAGI Kumiko
- Project Period (FY)
  2009 – 2011
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Human genetics
- Research Institution
  University of the Ryukyus
Study on causes and mechanisms of trigonocephaly syndromes using Next-generation sequencers.
- Principal Investigator
  
  KANAME Tadashi
- Project Period (FY)
  2009 – 2011
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  University of the Ryukyus
奇形症候群の客観的診断法開発の試み
- Principal Investigator
  
  成富研二
- Project Period (FY)
  2007 – 2008
- Research Category
  
  Grant-in-Aid for Exploratory Research
- Research Field
  
  Pediatrics
- Research Institution
  University of the Ryukyus
Construction and application of human artificial chromosome vectors for stable gene expression by minichromosome-modifying system.
- Principal Investigator
  
  KANAME Tadashi
- Project Period (FY)
  2005 – 2006
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Human genetics
- Research Institution
  University of the Ryukyus
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
- Principal Investigator
  
  KANAME Tadashi
- Project Period (FY)
  2004
- Research Category
  
  Grant-in-Aid for Scientific Research on Priority Areas
- Review Section
  
  Biological Sciences
- Research Institution
  University of the Ryukyus
Construction and application of human artificial chromosome vectors for gene introduction using minichromosomes.
- Principal Investigator
  
  KANAME Tadashi
- Project Period (FY)
  2003 – 2004
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Human genetics
- Research Institution
  University of the Ryukyus
自己免疫疾患老化モデルにおけるp16の解析
- Principal Investigator
  
  HANEJI Norio
- Project Period (FY)
  2000 – 2001
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  病態科学系歯学(含放射線系歯学)
- Research Institution
  The University of Tokushima
Analysis of the mechanism of membranous proteolysis and the immunoregulation for Sjogren's syndrome
- Principal Investigator
  
  HAYASHI Yoshio
- Project Period (FY)
  2000 – 2003
- Research Category
  
  Grant-in-Aid for Scientific Research (A)
- Research Field
  
  病態科学系歯学(含放射線系歯学)
- Research Institution
  The University of Tokushima
Development of disease-specific diagnosis and immunotherapy for Sjogren's syndrome
- Principal Investigator
  
  HAYASHI Yoshio
- Project Period (FY)
  2000 – 2001
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Experimental pathology
- Research Institution
  The University of Tokushima
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Principal Investigator
- Principal Investigator
  
  柳久美子
- Project Period (FY)
  1998 – 1999
- Research Category
  
  Grant-in-Aid for Encouragement of Young Scientists (A)
- Research Field
  
  Morphological basic dentistry
- Research Institution
  The University of Tokushima
A study of molecular pathology in experimental Sjogren's syndrome in mice
- Principal Investigator
  
  HAYASHI Yoshio
- Project Period (FY)
  1996 – 1998
- Research Category
  
  Grant-in-Aid for Scientific Research (A)
- Research Field
  
  Morphological basic dentistry
- Research Institution
  The University of Tokushima

All 2021 2020 2014 2013 2012 2011 2010 2009 2008 2005 2004

All Journal Article Presentation Book

[Book] Midkine : From embryogenesis to pathogenesis and medication2012
- Author(s)
  Kaname T, Yanagi K, Maehara H. Osteosarcoma and midkine
- Publisher
  Springer(in press)
- Data Source
  KAKENHI-PROJECT-21591329
[Book] Osteosarcoma and midkine. Midkine : From embryogenesis to pathogenesis and medication2012
- Author(s)
  T Kaname、K Yanagi、H Maehara
- Publisher
  Springer
- Data Source
  KAKENHI-PROJECT-21590362
[Journal Article] X-linked mental retardation and severe short stature with a novel mutation of the <i>KDM5C</i> gene2021
- Author(s)
  Kawano-Matsuda F, Maeda T, Kaname T, Yanagi K, Ihara K
- Journal Title
  
  Clin Pediatr Endocrinol
  
  Volume: 30 Issue: 1 Pages: 61-64
- DOI
  10.1297/cpe.30.61
- NAID
  130007966051
- ISSN
  0918-5739, 1347-7358
- Language
  English
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K09916, KAKENHI-PROJECT-18K07863
[Journal Article] Successful kidney transplantation in a patient with neonatal-onset ILNEB2021
- Author(s)
  Okamoto T, Nakamura A, Hayashi A, Yamaguchi T, Ogawa Y, Natsuga K, Yanagi K, Hotta K
- Journal Title
  
  Pediatr Transplant.
  
  Volume: -
- DOI
  10.1111/petr.13971
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K09916
[Journal Article] ETV6-related thrombocytopenia associated with a transient decrease in von Willebrand factor2021
- Author(s)
  Kanamaru Yuri、Uchiyama Toru、Kaname Tadashi、Yanagi Kumiko、Ohara Osamu、Kunishima Shinji、Ishiguro Akira
- Journal Title
  
  Int J Hematol
  
  Volume: -
- DOI
  10.1007/s12185-021-03136-4
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K08312, KAKENHI-PROJECT-20K09916, KAKENHI-PROJECT-18K07863
[Journal Article] A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND12021
- Author(s)
  Yanagi K, Morimoto N, Iso M, Abe Y, Okamura K, Nakamura T, Matsubara Y, Kaname T
- Journal Title
  
  Journal of Human Genetics
  
  Volume: -
- DOI
  10.1038/s10038-021-00915-z
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K09916, KAKENHI-PROJECT-18K07863
[Journal Article] A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data2020
- Author(s)
  Chinen Y, Yanagi K, Nakamura S, Nakayama N, Kamiya M, Nakayashiro M, Kaname T, Naritomi K, Nakanishi K.
- Journal Title
  
  Human Genome Variation
  
  Volume: - Pages: 11-11
- DOI
  10.1038/s41439-020-0098-y
- NAID
  120006892751
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K09916, KAKENHI-PROJECT-18K07863
[Journal Article] Severe gastrointestinal symptoms caused by a novel DDX3X variant2020
- Author(s)
  Okano S, Miyamoto A, Makita Y, Taketazu G, Kimura K, Fukuda I, Tanaka H, Yanagi K, Kaname T
- Journal Title
  
  European Journal of Medical Genetics
  
  Volume: 63 Pages: 104058-104058
- DOI
  10.1016/j.ejmg.2020.104058
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K09916, KAKENHI-PROJECT-18K07863
[Journal Article] <i>NT5E</i> Genetic Mutation Is a Rare But Important Cause of Intermittent Claudication and Chronic Limb-Threatening Ischemia2020
- Author(s)
  Azuma N, Uchida T, Kikuchi S, Sadahiro M, Shintani T, Yanagi K, Higashita R, Yamashita A, Makita Y, Kaname T.
- Journal Title
  
  Circulation Journal
  
  Volume: 84 Issue: 7 Pages: 1183-1188
- DOI
  10.1253/circj.cj-20-0153
  10.1253/circj.CJ-20-0153
- NAID
  130007864270
- ISSN
  1346-9843, 1347-4820
- Language
  English
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K09916, KAKENHI-PROJECT-18K16380
[Journal Article] A cDNA analysis disclosed the discordance of genotype-phenotype correlation in a patient with attenuated MPS II and a 76-base deletion in the gene for iduronate-2-sulfatase2020
- Author(s)
  Fukuhara Y, Miura A, Yamazaki N, So T, Kosuga M, Yanagi K, Kaname T, Yamagata T, Sakuraba H, Okuyama T
- Journal Title
  
  Molecular Genetics and Metabolism Reports
  
  Volume: 25 Pages: 100692-100692
- DOI
  10.1016/j.ymgmr.2020.100692
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K09916, KAKENHI-PROJECT-18K07863
[Journal Article] A commentary on the promise of whole-exome sequencing in medical genetics2014
- Author(s)
  Kaname T, Yanagi K, Naritomi K.
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 59 Pages: 117-118
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591506
[Journal Article] A commentary on the diagnostic utility of exome sequencing in Joubert syndrome and related disorders2013
- Author(s)
  T Kaname
- Journal Title
  
  J Hum Genet
  
  Volume: 58 Pages: 57-57
- DOI
  10.1038/jhg.2012.138
- NAID
  10031156423
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591506
[Journal Article] Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome2013
- Author(s)
  Ganaha A, Kaname T, Yanagi K, Naritomi K, Tono T, Usami S, Suzuki M.
- Journal Title
  
  BMC Medical Genetisc
  
  Volume: 14 Pages: 56-56
- DOI
  10.1186/1471-2350-14-56
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591506
[Journal Article] Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome2013
- Author(s)
  Suzumori N, Kaname T, Muramatsu Y, Yanagi K, Kumagai K, Mizuno S, Naritomi K, Saitho S, Sugiura M.
- Journal Title
  
  Journal of Obstetrics and Gynecology Research
  
  Volume: 39 Pages: 1545-1547
- DOI
  10.1111/jog.12081
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591506
[Journal Article] Identification of four novel synonymous substitutions in the X-linked genes neuroligin 3 and neuroligin 4X in Japanese patients with autistic spectrum disorder2012
- Author(s)
  Yanagi K, Kaname T, Wakui K, Hashimoto O, Fukushima Y, Naritomi K.
- Journal Title
  
  Autism Res Treat
  
  Volume: (in press)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591329
[Journal Article] Identification of four novel synonymous substitutions in the X-linked genes neuroligin 3 and neuroligin 4X in Japanese patients with autistic spectrum disorder2012
- Author(s)
  K Yanagi
- Journal Title
  
  Autism Research and Treatment
  
  Volume: submitted
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21590362
[Journal Article] Identification of four novel synonymous substitutions in the X-linked genes neuroligin 3 and neuroligin 4X in Japanese patients with autistic spectrum disorder2012
- Author(s)
  K Yanagi
- Journal Title
  
  Autism Research and Treatment
  
  Volume: (submitted)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591329
[Journal Article] Identification of four novel synonymous substitutions in the X-linked genes neuroligin 3 and neuroligin 4X in Japanese patients with autistic spectrum disorder2012
- Author(s)
  K Yanagi、T Kaname、K Wakui、O Hashimoto、Y Fukushima、K Naritomi
- Journal Title
  
  Autism Research and Treatment
  
  Volume: Vol.2012
- URL
  http://www.hindawi.com/journals/aurt/
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21590362
[Journal Article] Identification of four novel synonymous substitutions in the X-linked genes neuroligin 3 and neuroligin 4X in Japanese patients with autistic spectrum disorder2012
- Author(s)
  K Yanagi
- Journal Title
  
  Autism Res Treat
  
  Volume: 2012
- DOI
  10.1155/2012/724072
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591506
[Journal Article] The history of human populations in the Japanese Archipelago inferred from genome-wide SNP data with a special reference to the Ainu and the Ryukyuan populations2012
- Author(s)
  Jinam T, Nishida N, Hirai M, Kawamura S, Oota H, Umetsu K, Kimura R, Ohashi J, Tajima A, Yamamoto T, Tanabe H, Mano S, Suto Y, Kaname T, Naritomi K, Yanagi K, Niikawa N, Omoto K. Saitou N
- Journal Title
  
  J. Hum. Genet.
  
  Volume: 57巻 Pages: 787-79
- DOI
  10.1038/jhg.2012.114
- NAID
  10031145887
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22370087, KAKENHI-PROJECT-22390066, KAKENHI-PROJECT-22687023, KAKENHI-PROJECT-23247040, KAKENHI-PROJECT-23510242, KAKENHI-PROJECT-23591506, KAKENHI-PROJECT-23657167, KAKENHI-PROJECT-24370099, KAKENHI-PROJECT-24405017, KAKENHI-PROJECT-24790728
[Journal Article] Two novel mutations of the FGD1 gene in Japanese patients with Aarskog-Scott syndrome2005
- Author(s)
  Yanagi 他
- Journal Title
  
  Ryukyu Med.J. (In press)
- Data Source
  KAKENHI-PROJECT-16012251
[Journal Article] Two novel mutations of the FGD1 gene in Japanese patients with Aarskog-Scott syndrome.2005
- Author(s)
  Yanagi et al.
- Journal Title
  
  Ryukyu Med.J. 23
  
  Pages: 143-148
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-15590293
[Journal Article] Two novel mutations of the FGD1 gene in Japanese patients with Aarskog-Scott syndrome.2005
- Author(s)
  Yanagi他
- Journal Title
  
  Ryukyu.Med.J. 23
  
  Pages: 143-148
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-15590293
[Journal Article] Two novel mutations of the FGD1 gene in Japanese patients with Aarskog-Scott syndrome.2005
- Author(s)
  Yanagi et al.
- Journal Title
  
  Ryukyu Medical Journal 23
  
  Pages: 143-148
- Data Source
  KAKENHI-PROJECT-17590289
[Journal Article] Novel alternative splicing of human faciogenital dysplasia 1 gene.2004
- Author(s)
  Yanagi他
- Journal Title
  
  Congenit.Anom. 44・3
  
  Pages: 137-141
- NAID
  130008071957
- Data Source
  KAKENHI-PROJECT-15590293
[Journal Article] Novel alternative splicing of human faciogenital dysplasia 1 gene.2004
- Author(s)
  Yanagi 他
- Journal Title
  
  Congenit.Anom. 44・3
  
  Pages: 137-141
- NAID
  130008071957
- Data Source
  KAKENHI-PROJECT-16012251
[Journal Article] Novel alternative splicing of human faciogenital dysplasia 1 gene.2004
- Author(s)
  Yanagi他
- Journal Title
  
  Congenit.Anom. 44
  
  Pages: 137-141
- NAID
  130008071957
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-15590293
[Journal Article] Novel alternative splicing of human faciogenital dysplasia 1 gene.2004
- Author(s)
  Yanagi et al.
- Journal Title
  
  Congenit.Anom. 44
  
  Pages: 137-141
- NAID
  130008071957
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-15590293
[Presentation] A Japanese girl with a novel variant of PIK3R1 showed deterioration of insulin resistance to biguanide treatment.2020
- Author(s)
  Kumiko Yanagi, Suzuka Toguchi, Kazuhito Sato, Madoka Inoue, Kenji Naritomi, Yoichi Matsubara, Tadashi Kaname
- Organizer
  European Society of Human Genetics
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K09916
[Presentation] A novel variant within the G4 box of GNAI3, one of the catalytic domains of guanine nucleotide-binding, in a Japanese patient with Auriculocondylar syndrome 12020
- Author(s)
  Kumiko Yanagi, Noriko Morimoto, Nana Kobayashi, Yukimi Abe, Yoichi Matsubara, Tadashi Kaname
- Organizer
  American Society of Human Genetics
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K09916
[Presentation] A novel missense variant located within in GTP binding motif of GNAI32020
- Author(s)
  柳　久美子、守本倫子、磯まなみ、五十嵐ありさ、松原洋一、要　匡
- Organizer
  第43回日本分子生物学会
- Data Source
  KAKENHI-PROJECT-20K09916
[Presentation] JIP3をコードするMAPK8IP3のrecurrent de novo variantsは痙性麻痺、指摘障害、脳梁低形成を起こす2020
- Author(s)
  菊池敦夫、岩澤伸哉、柳久美子、小林康子、荻野谷和裕、松本浩、黒澤健司、落合正行、酒井康成、三宅紀子、新堀哲也、松本直通、要匡、青木洋子、東海林亙、呉繁夫
- Organizer
  第27回日本遺伝子診療学会
- Data Source
  KAKENHI-PROJECT-20K09916
[Presentation] Recognizable morphological characteristics of mandibular jaw distinguishing ARCND1 from other micrognathism Auriculocondylar2020
- Author(s)
  柳　久美子、守本倫子、松原洋一、要　匡
- Organizer
  日本人類遺伝学会第65回大会
- Data Source
  KAKENHI-PROJECT-20K09916
[Presentation] 疾患を対象とした可変追加型遺伝子診断パネルの作製と実践(Craniosynostosis, collagenopathy 220)2013
- Author(s)
  要匡、柳久美子、比嘉真紀、知念安紹、當間隆也、泉川良範、新川詔夫、吉浦孝一郎、成富研二
- Organizer
  日本人類遺伝学会第58回大会
- Place of Presentation
  江陽グランドホテル,仙台
- Data Source
  KAKENHI-PROJECT-23591506
[Presentation] Detection of variations and their frequencies of the CCR5 gene and its promoter region in Japanese and Okinawan population by NGS analysis using pooled DNAs Authors2013
- Author(s)
  T. Kaname, K. Yanagi, M. Higa, S. Song, Naritomi K
- Organizer
  The American Society of Human Genetics, 63rd Annual Meeting
- Place of Presentation
  Boston, MT, USA
- Data Source
  KAKENHI-PROJECT-23591506
[Presentation] Identificatbn of two novel mutations in the NOG gene in potients with Symphalangism syndrome. Authors2013
- Author(s)
  A. Ganaha, T. Kaname, K. Yanagi, K. Naritomi, M. Suzuki
- Organizer
  EUROPEAN Human Genetics CONFERENCE 2013
- Place of Presentation
  Paris, France
- Data Source
  KAKENHI-PROJECT-23591506
[Presentation] Detection and estimation of variations and their frequencies in a targeted genomic region in a specific population by NGS analysis using pooled DNAs2013
- Author(s)
  T. Kaname, K. Yanagi, M. Higa, A. Ganaha, K. Teruya, K. Sato, T. Hirano, Naritomi K.
- Organizer
  第36回日本分子生物学会年会
- Place of Presentation
  神戸ポートアイランド,神戸
- Data Source
  KAKENHI-PROJECT-23591506
[Presentation] ベンチトップ型次世代シーケンサを用いた遺伝子領域解析　―Aaarskog-Scott症候群原因関連遺伝子解析―2013
- Author(s)
  柳久美子
- Organizer
  日本人類遺伝学会第58回大会
- Place of Presentation
  仙台，宮城
- Data Source
  KAKENHI-PROJECT-23591506
[Presentation] Expression and cellular localization of the Trk-fused gene (TFG)2012
- Author(s)
  K. Yanagi, T. Kaname, Y. Sakiyama, H. Takashima, K. Naritomi
- Organizer
  第35回日本分子生物学会年会
- Place of Presentation
  福岡国際会議場,福岡
- Data Source
  KAKENHI-PROJECT-23591506
[Presentation] Distinct pathogenic substitution of IVS15+5G>A in the SLC26A4 gene in patients with enlarged vestibular aqueduct and Pendred syndrome in Okinawa islands2012
- Author(s)
  A. Ganaha, T. Kaname, K. Yanagi, K. Naritomi, S. Usami, M. Suzuki
- Organizer
  EUROPEAN Human Genetics CONFERENCE 2012
- Place of Presentation
  Nürnberg, Germany
- Data Source
  KAKENHI-PROJECT-23591506
[Presentation] Aarskog-Scott症候群におけるFGD1遺伝子変異解析2012
- Author(s)
  要匡、柳久美子、岡本伸彦、黒澤健司、泉川良範、福嶋義光、蒔田芳男、近藤郁子、塚原正人、Ayca Altincik、水野誠司、伊藤靖典、成富研二
- Organizer
  第19回日本遺伝子診療学会
- Place of Presentation
  三井ガーデンホテル千葉;千葉
- Data Source
  KAKENHI-PROJECT-23591506
[Presentation] Bohring-Opitz症候群およびOpitz C症候群における遺伝子変異2012
- Author(s)
  要匡、柳久美子、福嶋義光、蒔田芳男、水野誠司、吉浦孝一郎、新川詔夫、成富研二
- Organizer
  第52回日本先天異常学会学術集会
- Place of Presentation
  東京女子医科大学弥生記念講堂;東京
- Data Source
  KAKENHI-PROJECT-23591506
[Presentation] Novel mutations of the FGD1 gene in 16 patients with Aarskog-Scott syndrome2012
- Author(s)
  T. Kaname, K. Yanagi, N. Okamoto, K. Kurosawa, Y. Izumikawa, Y. Fukushima, Y. Makita, M. Tsukahara, A. Altincik, S. Mizuno, K. Naritomi
- Organizer
  The American Society of Human Genetics, 62nd Annual Meeting
- Place of Presentation
  San Francisco, CA, USA
- Data Source
  KAKENHI-PROJECT-23591506
[Presentation] G-band染色により核型46,XY,der(3)der(7), inv ins(3;7) (q21;q32q21.1)とされた裂手裂足患児の転座切断点解析2012
- Author(s)
  柳久美子、要匡、小口良子、當間隆也、泉川良範、吉浦孝一郎、新川詔夫、成富研二
- Organizer
  日本人類遺伝学会第57回大会
- Place of Presentation
  京王プラザホテル,東京
- Data Source
  KAKENHI-PROJECT-23591506
[Presentation] Expression and cellular localization of the Trk-fused gene (TFG)．2012
- Author(s)
  K Yanagi
- Organizer
  第35回日本分子生物学会年会
- Place of Presentation
  福岡
- Data Source
  KAKENHI-PROJECT-23591506
[Presentation] G-band 染色により核型46,XY,der(3)der(7), inv ins(3;7) (q21;q32q21.1)とされた裂手裂足患児の転座切断点解析2012
- Author(s)
  柳久美子
- Organizer
  日本人類遺伝学会第57回大会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23591506
[Presentation] Mutation screening test of Faciogenital dysplasia 1 gene in Japanese patients with Aarskog-Scott syndrome2011
- Author(s)
  柳久美子
- Organizer
  第34回日本分子生物学会年会
- Place of Presentation
  パシフィコ横浜(神奈川)
- Data Source
  KAKENHI-PROJECT-21591329
[Presentation] 免疫グロブリンスーパーファミリーCD96の細胞外マトリックスタンパク質との反応性の検討2011
- Author(s)
  要匡、柳久美子、森田この美、池松真也、成富研二
- Organizer
  第84回日本生化学会大会
- Place of Presentation
  京都国際会館;京都
- Data Source
  KAKENHI-PROJECT-23591506
[Presentation] Screening of mutations in the FGD1 gene in Japanese patients with Aarskog-Scott syndrome2011
- Author(s)
  K. Yanagi, T. Kaname, K. Naritomi
- Organizer
  第34回日本分子生物学会年会
- Place of Presentation
  パシフィコ横浜,横浜
- Data Source
  KAKENHI-PROJECT-23591506
[Presentation] Mutation screening test of Faciogenital dysplasia 1 gene in Japanese patients with Aarskog-Scott syndrome2011
- Author(s)
  柳　久美子
- Organizer
  第34回日本分子生物学会年会
- Place of Presentation
  パシフィコ横浜（神奈川）
- Data Source
  KAKENHI-PROJECT-23591506
[Presentation] Aarskog-Scott症候群患児におけるFGD1遺伝子変異(続報)2011
- Author(s)
  柳久美子
- Organizer
  日本人類遺伝学会第56回大会
- Place of Presentation
  幕張メッセ(千葉)
- Data Source
  KAKENHI-PROJECT-21590362
[Presentation] Aarskog-Scott症候群患児におけるFGD1遺伝子変異(続報)2011
- Author(s)
  柳久美子
- Organizer
  日本人類遺伝学会第55回大会
- Place of Presentation
  幕張メッセ(千葉)
- Data Source
  KAKENHI-PROJECT-21590362
[Presentation] Mutation screening test of Faciogenital dysplasia 1 gene in Japanese patients with Aarskog-Scott syndrome2011
- Author(s)
  K Yanagi
- Organizer
  第34回日本分子生物学会
- Place of Presentation
  パシフィコ横浜(神奈川)
- Data Source
  KAKENHI-PROJECT-21590362
[Presentation] Detection of a mutation in Lenz microphthalmia family by exome sequencing2011
- Author(s)
  T. Kaname, K. Yanagi, Y. Muramatsu, T. Tohma, H. Hanafusa, K. Morita, S. Ikematsu, Y. Itagaki, K. Kurosawa, S. Mizuno, K. Yoshiura, K. Naritomi
- Organizer
  The American Society of Human Genetics, 60th Annual Meeting Montreal
- Place of Presentation
  Quebec, Canada
- Data Source
  KAKENHI-PROJECT-23591506
[Presentation] Aarskog-Scott症候群におけるFGD1遺伝子変異2011
- Author(s)
  柳久美子、要匡、岡本伸彦、塚原正人、黒澤健司、泉川良範、福嶋義光、蒔田芳男、近藤郁子、Ayca Altincik、水野誠司、伊藤靖典、成富研二
- Organizer
  日本人類遺伝学会第56回大会
- Place of Presentation
  幕張メッセ,千葉
- Data Source
  KAKENHI-PROJECT-23591506
[Presentation] Opitz C様症候群(Bohring-Opitz症候群)におけるASXL1遺伝子変異2011
- Author(s)
  要匡、柳久美子、福嶋義光、水野誠司、吉浦孝一郎、新川詔夫、成富研二
- Organizer
  日本人類遺伝学会第56回大会
- Place of Presentation
  幕張メッセ,千葉
- Data Source
  KAKENHI-PROJECT-23591506
[Presentation] Aarskog-Scott症候群におけるFGD1遺伝子変異（続報）2011
- Author(s)
  柳　久美子
- Organizer
  日本人類遺伝学会第56回大会
- Place of Presentation
  幕張メッセ（千葉）
- Data Source
  KAKENHI-PROJECT-23591506
[Presentation] Mutation screening test of Faciogenital dysplasia 1 gene in Japanese patients with Aarskog-Scott syndrome2011
- Author(s)
  柳久美子
- Organizer
  第34回日本分子生物学会年会
- Place of Presentation
  パシフィコ横浜(神奈川)
- Data Source
  KAKENHI-PROJECT-21590362
[Presentation] Lenz小眼球症候群を呈する一家系の原因遺伝子解析2011
- Author(s)
  要匡、柳久美子、當間隆也、村松友佳子、森田この美、池松真也、板垣裕輔、水野誠司、吉浦孝一郎、成富研二
- Organizer
  第18回出生前診断研究会
- Place of Presentation
  佐賀大医学部臨床大講堂;佐賀
- Year and Date
  2011-10-01
- Data Source
  KAKENHI-PROJECT-23591506
[Presentation] Aarskog-Scott症候群におけるFGD1遺伝子変異2011
- Author(s)
  柳久美子
- Organizer
  日本人類遺伝学会第56回大会
- Place of Presentation
  幕張メッセ(千葉)
- Data Source
  KAKENHI-PROJECT-21591329
[Presentation] Opitz三角頭蓋症候群原因遺伝子CD96のPCR—HRM法による変異スキャニングシステム2011
- Author(s)
  要匡、森田この美、柳久美子、花房宏昭、吉浦孝一郎、池松真也、成富研二
- Organizer
  第51回日本先天異常学会学術集会
- Place of Presentation
  シェーンバッハ・サボー;東京
- Data Source
  KAKENHI-PROJECT-23591506
[Presentation] The development of high-throughput gene scanning system for autism spectrum disorders by a PCR coupled high-resolution melting curve analysis2010
- Author(s)
  Yanagi, Kumiko
- Organizer
  60th the American Society of Human Genetics Annual meeting
- Place of Presentation
  Washington Convention Center, Washington DC (USA)
- Data Source
  KAKENHI-PROJECT-21591329
[Presentation] 高精度融解曲線法を用いた自閉症スペクトラム感受性遺伝子のスキャンニング2010
- Author(s)
  柳久美子
- Organizer
  日本人類遺伝学会第55回大会
- Place of Presentation
  埼玉:大宮ソニックシティ
- Data Source
  KAKENHI-PROJECT-21590362
[Presentation] The development of high-throughput gene scanning system for autism spectrum disorders by a PCR coupled high-resolution melting curve analysis.2010
- Author(s)
  Kumiko Yanagi
- Organizer
  American Society of Human Genetics (ASHG)60th Annual Meeting
- Place of Presentation
  Washington, DC, United States
- Data Source
  KAKENHI-PROJECT-21590362
[Presentation] 高精度融解曲線法を用いた自閉症スペクトラム感受性遺伝子のスキャンニング2010
- Author(s)
  柳久美子
- Organizer
  日本人類遺伝学会第55回大会
- Place of Presentation
  大宮ソニックシティ(埼玉)
- Data Source
  KAKENHI-PROJECT-21590362
[Presentation] The development of high-throughput gene scanning system for autism spectrum disorders by a PCR coupled high-resolution melting curve analysis2010
- Author(s)
  K Yanagi
- Organizer
  American Society of Human Genetics(ASHG) 60th Annual Meeting
- Place of Presentation
  Washington, DC, United States
- Data Source
  KAKENHI-PROJECT-21590362
[Presentation] 自閉症スペクトラム感受性遺伝子、NLGN3およびNLGN4のハイスループット解析法の確立2009
- Author(s)
  柳久美子
- Organizer
  日本人類遺伝学会第54回大会
- Place of Presentation
  品川プリンスホテル(東京)
- Data Source
  KAKENHI-PROJECT-21590362
[Presentation] A PCR coupled high-resolution melting analysis for reliable gene scanning of the faciogenital dysplasia gene, FGD12009
- Author(s)
  Kaname T, Yanagi K, Chinen Y, Naritomi K
- Organizer
  European Human Genetics Conference 2009
- Place of Presentation
  Vienna, Austria
- Data Source
  KAKENHI-PROJECT-21590362
[Presentation] 自閉症スペクトラム感受性遺伝子、NLGN3およびNLGN4のハイスループット解析法の確立2009
- Author(s)
  柳久美子, 要匡, 福嶋義光, 成富研二
- Organizer
  日本人類遺伝学会第54回大会
- Place of Presentation
  東京(品川)
- Data Source
  KAKENHI-PROJECT-21590362
[Presentation] High-throughput variation scanning system of responsible genes for X-1 inked autistic disorder spectrum, NLGN3 and NLGN4, by a PCR coupled high-resolution melting curve analysis2009
- Author(s)
  Tanaka K, Kaname T, Maehara H, Fukushima Y, Naritomi K, Yanagi K
- Organizer
  59^<th> the American Society of Human Genetics, Annual meeting
- Place of Presentation
  Hawaii, USA
- Data Source
  KAKENHI-PROJECT-21590362
[Presentation] PCR-高解像度融解曲線分析法による遺伝子スキャニングシステムの構築2009
- Author(s)
  要匡, 柳久美子, 福嶋義光, 吉浦孝一郎, 新川詔夫, 成富研二
- Organizer
  第16回日本遣伝子診療学会
- Place of Presentation
  札幌
- Data Source
  KAKENHI-PROJECT-21590362
[Presentation] LightCycler 480システムを用いた高精度融解曲線分析法によるFGD1遺伝子全エクソンに対するジェノタイプ分析系の確立2008
- Author(s)
  柳久美子, 他
- Organizer
  日本人類遺伝学会第53回大会
- Place of Presentation
  横浜(パシフイコ横浜)
- Data Source
  KAKENHI-PROJECT-19659267
[Presentation] Comparison of DNA dyes, SYTO9, LCGreen Plus and EvaGreen and Investigation of Amplicon Length for DNA Amplification for High-Resolution Melting Analysis using LightCycler[○! R]480 System2008
- Author(s)
  Yanagi, et al.
- Organizer
  58th Annual Meeting of the American Society of Human Genetics
- Place of Presentation
  Philadelphia, USA
- Data Source
  KAKENHI-PROJECT-19659267
[Presentation] Comparison of DNA dyes, SYTO9, LCGreen Plus and EvaGreen and Investigation of Amplicon Length for DNA Amplification for High-Resolution Melting Analysis using LightCycler[○! R]480 System2008
- Author(s)
  Yanagi, et al.
- Organizer
  The 8th Annual Meeting of the East Asian Union of Human Genetics Societies (EAUHGS)
- Place of Presentation
  Sapporo(大学共同利用施設ACU)
- Year and Date
  2008-07-19
- Data Source
  KAKENHI-PROJECT-19659267

1. KANAME Tadashi (40264288)

# of Collaborated Projects: 9 results

# of Collaborated Products: 43 results
2. NARITOMI Kennji (20101446)

# of Collaborated Projects: 7 results

# of Collaborated Products: 29 results
3. HANEJI Norio (30274228)

# of Collaborated Projects: 4 results

# of Collaborated Products: 0 results
4. HAYASHI Yoshio (00127854)

# of Collaborated Projects: 3 results

# of Collaborated Products: 0 results
5. 石丸直澄 (60314879)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
6. 中村隆範 (70183887)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
7. 浜野弘規 (10238074)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
8. 斎藤一郎 (60147634)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
9. 守本倫子 (40286555)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
10. 石谷太 (40448428)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
11. MANO Syuhei

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
12. KIMURA Ryousuke

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
13. NISHIDA Nao

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
14. 菊地信介

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
15. 内山徹

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
16. 太田博樹

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
17. 石田肇

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

YANAGI Kumiko 柳 久美子

柳 久美子 ヤナギ クミコ

YANAGAI Kumiko 柳 久美子

Research Projects

Research Products

Co-Researchers

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

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Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

High-throughput screening system for genes associated with autism spectrum disorderPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

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Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

[Book] Midkine : From embryogenesis to pathogenesis and medication2012

YANAGI Kumiko 柳久美子

柳久美子ヤナギクミコ

YANAGAI Kumiko 柳久美子