分子細胞生物学研究部

分子細胞生物学研究部

分子細胞生物学研究部
部長 岩田 岳
視覚生物学研究室 | 神経生物学研究室

研究部の紹介

はじめに

ヒトは外部情報の80%を視覚に依存しており、急速な高齢化と視覚を酷使する生活環境によって視覚障害者は増加すると予測されます。分子細胞生物学研究部では基礎研究者と眼科医が協力して、加齢黄斑変性、家族性の緑内障、遺伝性の網膜疾患群を対象に、原因・発症機序の解明と診断・治療法の開発を行っています。

研究対象疾患と研究内容

加齢黄斑変性

黄斑は角膜と水晶体によって収束した光が網膜上で結像する領域で、視細胞が集中する、視力を決定する重要な部位です。黄斑が障害される代表的な眼疾患として加齢黄斑変性がありますが、米国では失明率も最も高い難治性眼疾患であり、日本でも急速な高齢化によって患者数は増加しています。我々は加齢黄斑変性の初期病態が優性遺伝で観察される、世界的にも珍しいカニクイザルについて、発症原因の研究や薬効評価を行ってきました。
また、日本人の加齢黄斑変性患者は全ゲノム相関解析(GWAS)によって、染色体10番のARMS2-HTRA1領域と強く相関することを発見しました。我々は加齢黄斑変性の患者ではARMS2遺伝子下流の塩基配列の変化によって、分泌型セリンプロテアーゼHTRA1の転写活性が増加することを発見しました。HTRA1を全身で高発現したトランスジェニックマウスでは、加齢黄斑変性に類似した病態が各国研究者との共同研究によって確認されています。

家族性の緑内障と視神経萎縮症

緑内障は網膜神経節細胞の委縮によって発症する、患者数の最も多い眼疾患です。遺伝因子や環境因子が原因と考えられており、加齢にともなって有病率が上昇します。我々は主に家族性の緑内障や視神経萎縮症の原因遺伝子とその発症分子メカニズムの解明や治療法を開発しています。2020年には緑内障(X)と視神経萎縮症(MCAT)の新規原因遺伝子を発見しました。また、正常眼圧緑内障の原因遺伝子オプチニュリン(OPTN)のE50Kノックインマウスを作製し、加えて患者iPS細胞を用いて、病態を再現し、これを抑制する薬を発見しました。

遺伝性網膜疾患(36疾患)

厚生労働省と日本医療研究開発機構 (AMED)の委託研究事業の拠点班として、遺伝性網膜疾患を対象に国内38の大学病院や眼科施設と連携し、Japan Eye Genetics Consortiumを設立し、2011年~2019年までマルチオミックス研究(ゲノム解析、プロテオーム解析、トランスクリプトーム解析)を行ってきました。これまでの結果から日本人の8割の患者は欧米人とは異なる遺伝子変異によって発症していることが明らかになりました。日本人患者の遺伝情報と症例情報をデータベース化し、遺伝子診断や治療法の開発に役立てています。すでにRP1L1、C21orf2、CCT2、LRRTM4などの新規遺伝子を発見しました。
解明された多数の新規原因遺伝子については、その発症分子機序を解明するために、変異体タンパク質の機能解析、ノックインマウス、ノックアウトマウス、患者iPS細胞を用いた研究を行っています。

研究技法

症例情報、遺伝情報、血液・唾液検体の収集とデータベースの運用

厚生労働省、AMED研究事業、国立病院機構ネットワーク研究事業として、各大学や国立病院機構病院と連携して症例情報、遺伝情報、血液医・唾液検体を収集し、データベースに登録しています。データベースは難病プラットフォームデーターベースeCatchとGlobal Eye Genetics ConsortiumデータベースGenEyeを構築中です。

ゲノム解析

患者おより親族の血液・唾液検体からDNAを抽出し、次世代DNAシークエンス(全エクソーム解析、ショートリード全ゲノム解析、ロングリード全ゲノム解析によって、原因ゲノム変異の探索を行っています。JEGC研究班では患者、患者親族のゲノム解析を主体としており、より信頼性の高い結果をめざしています。

変異体タンパク質の機能解析

新規原因遺伝子の変異体タンパク質について、その構造変化、タンパク質機能への影響、タンパク質間相互作用、変異体の細胞内での状態を調べています。

患者iPS細胞の作製

我々が発見した新規原因遺伝子によって発症した患者の血液からiPS細胞を樹立し、網膜の細胞へと分化誘導することによって、患者の網膜を実験室で再現し、原因・発症機序解明と治療法の開発に利用しています。

ゲノム編集による疾患モデル動物の作製

ゲノム解析によって明らかにされた新規原因遺伝子についてはゲノム編集技術(ノックイン、ノックアウト)による遺伝子改変マウスおよびカニクイザルを作製し、患者と同じ病態を動物で再現し、その詳細な病理学的観察によって発症機序の解明と治療法の開発を行っています。

国際協力

Global Eye Genetics Consortiumの設立

日本人の原因遺伝子変異には、海外を起源としているものが多数含まれていると考えられています。2014年、我々は世界各国の眼科施設と連携して、Global Eye Genetics Consortium (GEGC)を設立しました。現在では約30カ国の眼科施設と情報交換を行い、データベースGenEyeを構築して、国際共同研究体制によるゲノム解析が進行中です。

GEGC全体会議 (ARVO、2016年5月3日、シアトル)
GEGC全体会議 (ARVO、2016年5月3日、シアトル)

国際学会の開催

≪International Society for Eye Research (ISER)は1968年にオックスフォード大学で開催されてから、2年おきにヨーロッパ、アメリカ大陸、アジア・太平洋地域の順番で開催されてきました。2016年、我々がホストとなってXXII ISERが20年ぶりに日本で開催されました。39か国から1020人が参加し、参加者の約85%が外国人、日本人の参加者も例年の3倍でした。本学会では緑内障、水晶体と白内障、角膜と眼表面、眼のイメージング、眼の免疫、網膜色素上皮と脈絡膜、網膜の細胞生物学、眼薬理学と治療法、網膜の発生、眼の遺伝学の分野について、過去最大の135セッションが開かれ、参加者からは近年の開催としては最も高い評価をいただきました。この学会後もAPAO、ARVO、WOC、ISERなどの国際眼科学会のプログラムや運営に関与しています。

ISER レセプション (京王プラザホテル、2016年9月27日、新宿)
ISER レセプション (京王プラザホテル、2016年9月27日、新宿)

研究部メンバー

部長 岩田 岳
秘書 照山 遊
主任研究員 須賀 晶子
研究員 潘 洋 (Pan, Yang)
研究補助員 峰松 尚子
派遣社員 山本 めぐみ (JAC)
客員研究員 吉武 和敏 (東京大学農学部)
客員研究員 伊藤 拓己 (東京大学農学部)
客員研究員 中山 真央
客員研究員 峯岸 ゆり子(有明がん研究所)
客員研究員 木村 至 (東海大学八王子病院)

連絡先

〒152-8902 東京都目黒区東が丘2-5-1
独立行政法人 国立病院機構 東京医療センター
臨床研究センター (感覚器センター)
分子細胞生物学研究部
岩田 岳
takeshi.iwata at kankakuki.go.jp

論文・出版

  • Pan Y, Iejima D, Nakayama M, Suga A, Noda T, Kaur I, Das T, Chakrabarti S, Guymer RH, DeAngelis MM, Yamamoto M, Baird PN, Iwata T. Binding of Gtf2i-β/ δ transcription factors to the ARMS2 gene leads to increased circulating HTRA1 in AMD patients and in vitro.J Biol Chem. 2021 Feb 23:100456. doi: 10. 1016/j.jbc.2021.100456. Online ahead of print.PMID: 33636181
  • Hayashi T, Mizobuchi K, Kameya S, Yoshitake K, Iwata T, Nakano T. A new PDE6A missense variant p.Arg544Gln in rod-cone dystrophy.Doc Ophthalmol. 2021 Feb 21. doi: 10.1007/s10633-021-09826-y. Online ahead of print. PMID: 336117603
  • Mawatari G, Fujinami K, Liu X, Yang L, Fujinami-Yokokawa Y, Komori S, Ueno S, Terasaki H, Katagiri S, Hayashi T, Kuniyoshi K, Miyake Y, Tsunoda K, Yoshitake K, Iwata T, Nao-I N; JEGC study group. Correction to: Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants.Hum Genome Var. 2020 Feb 10;7(1):3. doi: 10.1038/s41439-019-0086-2.PMID: 33558473
  • Owen LA, Shirer K, Collazo SA, Szczotka K, Baker S, Wood B, Carroll L, Haaland B, Iwata T, Katikaneni LD, DeAngelis MM. The Serine Protease HTRA-1 Is a Biomarker for ROP and Mediates Retinal Neovascularization.Front Mol Neurosci. 2020 Nov 17;13:605918. doi: 10.3389/fnmol.2020.605918. eCollection 2020.PMID: 33281553
  • Hayashi T, Kameya S, Mizobuchi K, Kubota D, Kikuchi S, Yoshitake K, Mizota A, Murakami A, Iwata T, Nakano T. Share Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese families.Sci Rep. 2020 Sep 28;10(1):15883. doi: 10.1038/s41598-020-72623-1.PMID: 32985515
  • Fujinami K, Liu X, Ueno S, Mizota A, Shinoda K, Kuniyoshi K, Fujinami-Yokokawa Y, Yang L, Arno G, Pontikos N, Kameya S, Kominami T, Terasaki H, Sakuramoto H, Nakamura N, Kurihara T, Tsubota K, Miyake Y, Yoshiake K, Iwata T, Tsunoda K; Japan Eye Genetics Consortium Study Group. RP2-associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype-phenotype association.Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):675-693. doi: 10.1002/ajmg.c.31830. Epub 2020 Sep 1. PMID: 328756844Cite
  • Liu X, Fujinami K, Kuniyoshi K, Kondo M, Ueno S, Hayashi T, Mochizuki K, Kameya S, Yang L, Fujinami-Yokokawa Y, Arno G, Pontikos N, Sakuramoto H, Kominami T, Terasaki H, Katagiri S, Mizobuchi K, Nakamura N, Yoshitake K, Miyake Y, Li S, Kurihara T, Tsubota K, Iwata T, Tsunoda K; Japan Eye Genetics Consortium. Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with GUCY2D-Associated Retinal Disorder.Transl Vis Sci Technol. 2020 May 11;9(6):2. doi: 10.1167/tvst.9.6.2. eCollection 2020 May.PMID: 32821499
  • Fujinami K, Oishi A, Yang L, Arno G, Pontikos N, Yoshitake K, Fujinami-Yokokawa Y, Liu X, Hayashi T, Katagiri S, Mizobuchi K, Mizota A, Shinoda K, Nakamura N, Kurihara T, Tsubota K, Miyake Y, Iwata T, Tsujikawa A, Tsunoda K; Japan Eye Genetics Consortium study group. Clinical and genetic characteristics of 10 Japanese patients with PROM1-associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population.Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):656-674. doi: 0.1002/ajmg.c.31826. Epub 2020 Aug 20.PMID: 328205936Cite
  • Yang L, Joo K, Tsunoda K, Kondo M, Fujinami-Yokokawa Y, Arno G, Pontikos N, Liu X, Nakamura N, Kurihara T, Tsubota K, Iwata T, Li H, Zou X, Wu S, Sun Z, Ahn SJ, Kim MS, Mun YS, Park KH, Robson AG, Miyake Y, Woo SJ, Sui R, Fujinami K; East Asia Inherited Retinal Disease Society Study Group. Spatial Functional Characteristics of East Asian Patients With Occult Macular Dystrophy (Miyake Disease); EAOMD Report No. 2.Am J Ophthalmol. 2020 Jul 21: S0002-9394(20)30382-2. doi: 10.1016/j.ajo.2020.07.025. Online ahead of print.PMID: 32707201
  • Hirose A, Katagiri S, Hayashi T, Matsuura T, Nagai N, Fujinami K, Iwata T, Tsunoda K. Progress of macular atrophy during 30 months’ follow-up in a patient with spinocerebellar ataxia type1 (SCA1).Doc Ophthalmol. 2020 Jul 9. doi: 10.1007/s10633-020-09782-z. Online ahead of print.PMID: 326480258Cite Fujinami-Yokokawa Y, Fujinami K, Kuniyoshi K, Hayashi T, Ueno S, Mizota A, Shinoda K, Arno G, Pontikos N, Yang L, Liu X, Sakuramoto H, Katagiri S, Mizobuchi K, Kominami T, Terasaki H, Nakamura N, Kameya S, Yoshitake K, Miyake Y, Kurihara T, Tsubota K, Miyata H, Iwata T, Tsunoda K; Japan Eye Genetics Consortium. Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association.Sci Rep. 2020 Jun 12;10(1): 9531. doi: 10.1038/s41598-020-65737-z.PMID: 32533067
  • Mizobuchi K, Hayashi T, Yoshitake K, Fujinami K, Tachibana T, Tsunoda K, Iwata T, Nakano T. Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings.Mol Genet Genomic Med. 2020 Aug;8(8):e1308. doi: 10.1002/mgg3.1308. Epub 2020 May 22.PMID: 32441891
  • Katagiri S, Hayashi T, Nakamura M, Mizobuchi K, Gekka T, Komori S, Ueno S, Terasaki H, Sakuramoto H, Kuniyoshi K, Kusaka S, Nagashima R, Kondo M, Fujinami K, Tsunoda K, Matsuura T, Kondo H, Yoshitake K, Iwata T, Nakano T. RDH5-Related Fundus Albipunctatus in a Large Japanese Cohort. Invest Ophthalmol Vis Sci. 2020 Mar 9;61(3):53. doi: 10.1167/iovs.61.3.53. PubMed PMID: 32232344.
  • Yang L, Fujinami K, Ueno S, Kuniyoshi K, Hayashi T, Kondo M, Mizota A, Naoi N, Shinoda K, Kameya S, Fujinami-Yokokawa Y, Liu X, Arno G, Pontikos N, Kominami T, Terasaki H, Sakuramoto H, Katagiri S, Mizobuchi K, Nakamura N, Mawatari G, Kurihara T, Tsubota K, Miyake Y, Yoshitake K, Iwata T, Tsunoda K; JEGC study group. Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency. Sci Rep. 2020 Mar 26;10(1):5497. doi: 10.1038/s41598-020-62119-3. PubMed PMID: 32218477; PubMed Central PMCID: PMC7099090.
  • Mabuchi F, Mabuchi N, Sakurada Y, Yoneyama S, Kashiwagi K, Iijima H, Yamagata Z, Takamoto M, Aihara M, Iwata T, Hashimoto K, Sato K, Shiga Y, Nishiguchi KM, Nakazawa T, Akiyama M, Kawase K, Ozaki M, Araie M; Japan Glaucoma Society Omics Group (JGS-OG). Genetic variants associated with the onset and progression of primary open-angle glaucoma. Am J Ophthalmol. 2020 Mar 23. pii: S0002-9394(20)30114-8. doi: 10.1016/j.ajo.2020.03.014. [Epub ahead of print] PubMed PMID: 32217119.
  • Kuniyoshi K, Hayashi T, Kameya S, Katagiri S, Mizobuchi K, Tachibana T, Kubota D, Sakuramoto H, Tsunoda K, Fujinami K, Yoshitake K, Iwata T, Nakano T, Kusaka S. Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2-Associated Retinopathy. Int J Mol Sci. 2020 Feb 16;21(4). pii: E1331. doi: 10.3390/ijms21041331. PubMed PMID: 32079136; PubMed Central PMCID: PMC7072995.
  • Mawatari G, Fujinami K, Liu X, Yang L, Fujinami-Yokokawa Y, Komori S, Ueno S, Terasaki H, Katagiri S, Hayashi T, Kuniyoshi K, Miyake Y, Tsunoda K, Yoshitake K, Iwata T, Nao-I N; JEGC study group. Correction to: Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants. Hum Genome Var. 2020 Feb 10;7:3. doi: 10.1038/s41439-019-0086-2. eCollection 2020. PubMed PMID: 32047640; PubMed Central PMCID: PMC7008114.
  • Hayashi T, Katagiri S, Mizobuchi K, Yoshitake K, Kameya S, Matsuura T, Iwata T, Nakano T. Heterozygous GGC repeat expansion of NOTCH2NLC in a patient with neuronal intranuclear inclusion disease and progressive retinal dystrophy. Ophthalmic Genet. 2020 Feb 10:1-3. doi: 10.1080/13816810.2020.1723119. [Epub ahead of print] PubMed PMID: 32039647.
  • Li H, Yuan S, Minegishi Y, Suga A, Yoshitake K, Sheng X, Ye J, Smith S, Bunkoczi G, Yamamoto M, Iwata T. Novel mutations in malonyl-CoA-acyl carrier protein transacylase provoke autosomal recessive optic neuropathy. Hum Mol Genet. 2020 Jan 9. pii: ddz311. doi: 10.1093/hmg/ddz311. [Epub ahead of print] PubMed PMID: 31915829.
  • Balikova I, Postelmans L, Pasteels B, Coquelet P, Catherine J, Efendic A, Hosoda Y, Miyake M, Yamashiro K; ANGEL study group members, Thienpont B, Lambrechts D; ANGEL study group members. Genetic biomarkers in the VEGF pathway predicting response to anti-VEGF therapy in age-related macular degeneration. BMJ Open Ophthalmol. 2019 Dec 17;4(1):e000273. doi: 10.1136/bmjophth-2019-000273. eCollection 2019. PubMed PMID: 31909188; PubMed Central PMCID: PMC6936450.
  • Mizobuchi K, Hayashi T, Katagiri S, Yoshitake K, Fujinami K, Yang L, Kuniyoshi K, Shinoda K, Machida S, Kondo M, Ueno S, Terasaki H, Matsuura T, Tsunoda K, Iwata T, Nakano T. Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies. Sci Rep. 2019 Nov 14;9(1):16851. doi: 10.1038/s41598-019-52660-1. PubMed PMID: 31728034.
  • Nakamura N, Tsunoda K, Mizuno Y, Usui T, Hatase T, Ueno S, Kuniyoshi K, Hayashi T, Katagiri S, Kondo M, Kameya S, Yoshitake K, Fujinami K, Iwata T, Miyake Y. Clinical Stages of Occult Macular Dystrophy Based on Optical Coherence Tomographic Findings. Invest Ophthalmol Vis Sci. 2019 Nov 1;60(14):4691 – 4700. doi: 10.1167/iovs.19-27486. PubMed PMID: 31725168.
  • Kubota D, Oishi N, Gocho K, Kikuchi S, Yamaki K, Igarashi T, Takahashi H, Ishida N, Iwata T, Mizota A, Kameya S. Novel homozygous in-frame deletion of GNAT1 gene causes golden appearance of fundus and reduced scotopic ERGs similar to that in Oguchi disease in Japanese family. Ophthalmic Genet. 2019 Nov 7:1-8. doi: 10.1080/13816810.2019.1686159. [Epub ahead of print] PubMed PMID: 31696758.
  • Maeda-Katahira A, Nakamura N, Hayashi T, Katagiri S, Shimizu S, Ohde H, Matsunaga T, Kaga K, Nakano T, Kameya S, Matsuura T, Fujinami K, Iwata T, Tsunoda K. Autosomal dominant optic atrophy with OPA1 gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort. Mol Vis. 2019 Oct 5;25:559-573. eCollection 2019. PubMed PMID: 31673222; PubMed Central PMCID: PMC6798706.
  • Mawatari G, Fujinami K, Liu X, Yang L, Yokokawa YF, Komori S, Ueno S, Terasaki H, Katagiri S, Hayashi T, Kuniyoshi K, Miyake Y, Tsunoda K, Yoshitake K, Iwata T, Nao-I N; JEGC study group. Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants. Hum Genome Var. 2019 Aug 2;6:34. doi: 10.1038/s41439-019-0065-7. eCollection 2019. PubMed PMID: 31645972; PubMed Central PMCID: PMC6804603.
  • Kameya S, Fujinami K, Ueno S, Hayashi T, Kuniyoshi K, Ideta R, Kikuchi S, Kubota D, Yoshitake K, Katagiri S, Sakuramoto H, Kominami T, Terasaki H, Yang L, Fujinami-Yokokawa Y, Liu X, Arno G, Pontikos N, Miyake Y, Iwata T, Tsunoda K; Japan Eye Genetics Consortium. Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance. Invest Ophthalmol Vis Sci. 2019 Aug 1;60(10):3432 – 3446. doi: 10.1167/iovs.19-26650. PubMed PMID: 31390656.
  • Tsunoda K, Fujinami K, Yoshitake K, Iwata T. Late-onset night blindness with peripheral flecks accompanied by progressive trickle-like macular degeneration. Doc Ophthalmol. 2019 Jul 8. doi: 10.1007/s10633-019-09705-7. [Epub ahead of print] PubMed PMID: 31286363.
  • Fujinami-Yokokawa Y, Pontikos N, Yang L, Tsunoda K, Yoshitake K, Iwata T, Miyata H, Fujinami K, Japan Eye Genetics Consortium OBO. Prediction of Causative Genes in Inherited Retinal Disorders from Spectral-Domain Optical Coherence Tomography Utilizing Deep Learning Techniques. J Ophthalmol. 2019 Apr 9;2019:1691064. doi: 10.1155/2019/1691064. eCollection 2019. PubMed PMID: 31093368; PubMed Central PMCID: PMC6481010.
  • Fujinami K, Yang L, Joo K, Tsunoda K, Kameya S, Hanazono G, Fujinami-Yokokawa Y, Arno G, Kondo M, Nakamura N, Kurihara T, Tsubota K, Zou X, Li H, Park KH, Iwata T, Miyake Y, Woo SJ, Sui R; East Asia Inherited Retinal Disease Society study group. Clinical and Genetic Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake Disease): East Asia Occult Macular Dystrophy Studies Report Number 1. Ophthalmology. 2019 Apr 25. pii: S0161-6420(19)30138-1. doi: 10.1016/j.ophtha.2019.04.032. [Epub ahead of print] PubMed PMID: 31028767.
  • Gan YJ, Fang AW, Liu C, Liu BJ, Yang FM, Guan JT, Lan CL, Dai XD, Li T, Cao Y, Ran Y, Gong XH, Jin ZB, Cui RZ, Iwata T, Qu J, Lu F, Chi ZL. Elevated Plasma Levels of Drebrin in Glaucoma Patients With Neurodegeneration. Front Neurosci. 2019 Apr 3;13:326. doi: 10.3389/fnins.2019.00326. eCollection 2019. PubMed PMID: 31001081; PubMed Central PMCID: PMC6456690.
  • Kutsuma T, Katagiri S, Hayashi T, Yoshitake K, Iejima D, Gekka T, Kohzaki K, Mizobuchi K, Baba Y, Terauchi R, Matsuura T, Ueno S, Iwata T, Nakano T. Novel biallelic loss-of-function KCNV2 variants in cone dystrophy with supernormal rod responses. Doc Ophthalmol. 2019 Mar 15. doi: 10.1007/s10633-019-09679-6. [Epub ahead of print] PubMed PMID: 30877594.
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  • Gyan Prakash and Takeshi Iwata (Eds), Advances in Vision Research Volume II, Essentials in Ophthalmology, Springer Nature, 2018
  • Katagiri S, Hayashi T, Yoshitake K, Murai N, Matsui Z, Kubo H, Satoh H, Matsufuji S, Takamura T, Yokoo T, Omori Y, Furukawa T, Iwata T, Nakano T. Compound heterozygous splice site variants in the SCLT1 gene highlight an additional candidate locus for Senior-Loken syndrome. Sci Rep. 2018 Nov 13;8(1):16733. doi: 10.1038/s41598-018-35152-6.
  • Nakanishi A, Ueno S, Hayashi T, Katagiri S, Ito Y, Kominami T, Fujinami K, Tsunoda K, Iwata T, Terasaki H. CHANGES OF CONE PHOTORECEPTOR MOSAIC IN AUTOSOMAL RECESSIVE BESTROPHINOPATHY. Retina. 2018 Oct 9. doi:10.1097/IAE.0000000000002363. [Epub ahead of print] PubMed PMID: 30308565.
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  • Inagaki S, Kawase K, Funato M, Seki J, Kawase C, Ohuchi K, Kameyama T, Ando S, Sato A, Morozumi W, Nakamura S, Shimazawa M, Iejima D, Iwata T, Yamamoto T, Kaneko H, Hara H. Effect of Timolol on Optineurin Aggregation in Transformed Induced Pluripotent Stem Cells Derived From Patient With Familial Glaucoma. Invest Ophthalmol Vis Sci. 2018 May 1;59(6):2293 – 2304.
  • Kawamura Y, Suga A, Fujimaki T, Yoshitake K, Tsunoda K, Murakami A, Iwata T. LRRTM4-C538Y novel gene mutation is associated with hereditary macular degeneration with novel dysfunction of ON-type bipolar cells. J Hum Genet. 2018 May 14. doi: 10.1038/s10038-018-0465-4. [Epub ahead of print] PubMed PMID: 29760528.
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  • Katagiri S, Hosono K, Hayashi T, Kurata K, Mizobuchi K, Matsuura T, Yoshitake K, Iwata T, Nakano T, Hotta Y. Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants. Mol Vis. 2018 Apr 9;24:286-296. eCollection 2018. PubMed PMID: 29681726; PubMed Central PMCID: PMC5893010.
  • Katagiri S, Hayashi T, Mizobuchi K, Yoshitake K, Iwata T, Nakano T. Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly). Ophthalmic Genet. 2018 Jun;39(3):357-365. doi: 10.1080/13816810.2018.1459737. Epub 2018 Apr 9. PubMed PMID: 29630435.
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  • Shiga Y, Akiyama M, Nishiguchi KM, Sato K, Shimozawa N, Takahashi A, Momozawa Y, Hirata M, Koichi M, Yamaji T, Iwasaki M, Tsugane S, Oze I, Mikami H, Naito M, Wakai K, Yoshikawa M, Miyake M, Yamashiro K; Japan Glaucoma Society Omics Group, Kashiwagi K, Iwata T, Mabuchi F, Takamoto M, Ozaki M, Kawase K, Aihara M, Araie M, Yamamoto T, Kiuchi Y, Nakamura M, Ikeda Y, Sonoda KH, Ishibashi T, Nitta K, Iwase A, Shirato S, Oka Y, Satoh M, Sasaki M, Fuse N, Suzuki Y, Cheng CY, Khor CC, Baskaran M, Perera S, Aung T, Vithana EN, Cooke Bailey JN, Kang JH, Pasquale LR, Haines JL; NEIGHBORHOOD consortium, Wiggs JL, Burdon KP, Gharahkhani P, Hewitt AW, Mackey DA, MacGregor S, Craig JE, Allingham RR, Hauser M, Ashaye A, Budenz DL, Akafo S, Williams SEI, Kamatani Y, Nakazawa T, Kubo M. Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma. Hum Mol Genet. 2018 Feb 14. doi: 10.1093/hmg/ddy053. [Epub ahead of print] PubMed PMID: 29452408.
  • Uno Y, Osada N, Sakurai S, Shimozawa N, Iwata T, Ikeo K. Development of genotyping method for functionally relavant variants of cytochromes P450 in cynomogus macaques. Journal of Veterinary Pharmacology and Therapeutics. 2018;41:e30-e34.
  • Khan KN, Kasilian M, Mahroo OAR, Tanna P, Kalitzeos A, Robson AG, Tsunoda K, Iwata T, Moore AT, Fujinami K, Michaelides M. Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy. Ophthalmology. 2018 Jan 5. pii: S0161-6420(17)32533-2. doi: 10.1016/j.ophtha.2017.11.020. [Epub ahead of print] PubMed PMID: 29310964.
  • Kominami A, Ueno S, Kominami T, Nakanishi A, Ito Y, Fujinami K, Tsunoda K, Hayashi T, Kikuchi S, Kameya S, Iwata T, Terasaki H. Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants. Ophthalmic Genet. 2018 Apr;39(2):255-262. doi: 10.1080/13816810.2017.1408846. Epub 2017 Dec 8. PubMed PMID: 29220607.
  • Fiorentino A, Fujinami K, Arno G, Robson AG, Pontikos N, Arasanz Armengol M, Plagnol V, Hayashi T, Iwata T, Parker M, Fowler T, Rendon A, Gardner JC, Henderson RH, Cheetham ME, Webster AR, Michaelides M, Hardcastle AJ; 100,000 Genomes Project, the Japan Eye Genetic Consortium and the UK Inherited Retinal Dystrophy Consortium. Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females. Hum Mutat. 2018 Jan;39(1):80-91. doi: 10.1002/humu.23349. Epub 2017 Oct 17. PubMed PMID: 28967191.
  • Shiga Y, Nishiguchi KM, Kawai Y, Kojima K, Sato K, Fujita K, Takahashi M, Omodaka K, Araie M, Kashiwagi K, Aihara M, Iwata T, Mabuchi F, Takamoto M, Ozaki M, Kawase K, Fuse N, Yamamoto M, Yasuda J, Nagasaki M, Nakazawa T; Japan Glaucoma Society Omics Group (JGS-OG). Genetic analysis of Japanese primary open-angle glaucoma patients and clinical characterization of risk alleles near CDKN2B-AS1, SIX6 and GAS7. PLoS One. 2017 Dec 20;12(12):e0186678. doi: 10.1371/journal.pone.0186678. eCollection 2017. PubMed PMID: 29261660.
  • Kato Y, Hanazono G, Fujinami K, Hatase T, Kawamura Y, Iwata T, Miyake Y, Tsunoda K. Parafoveal Photoreceptor Abnormalities in Asymptomatic Patients With RP1L1 Mutations in Families With Occult Macular Dystrophy. Invest Ophthalmol Vis Sci. 2017 Dec 1;58(14):6020 – 6029. doi: 10.1167/iovs.17-21969.
  • Shinozaki Y, Kashiwagi K, Namekata K, Takeda A, Ohno N, Robaye B, Harada T, Iwata T, Koizumi S. Purinergic dysregulation causes hypertensive glaucoma-like optic neuropathy. JCI Insight. 2017 Oct 5;2(19). pii: 93456.
  • Mabuchi F, Mabuchi N, Takamoto M, Sakurada Y, Yoneyama S, Kashiwagi K, Iijima H, Yamagata Z, Aihara M, Iwata T, Araie M. Japan Glaucoma Society Omics Group (JGS-OG). Genetic Variant Near PLXDC2 Influences the Risk of Primary Open-angle Glaucoma by Increasing Intraocular Pressure in the Japanese Population. J Glaucoma. 2017 Sep 19.
  • Yamashiro K, Mori K, Honda S, Kano M, Yanagi Y, Obana A, Sakurada Y, Sato T, Nagai Y, Hikichi T, Kataoka Y, Hara C, Koyama Y, Koizumi H, Yoshikawa M, Miyake M, Nakata I, Tsuchihashi T, Horie-Inoue K, Matsumiya W, Ogasawara M, Obata R, Yoneyama S, Matsumoto H, Ohnaka M, Kitamei H, Sayanagi K, Ooto S, Tamura H, Oishi A, Kabasawa S, Ueyama K, Miki A, Kondo N, Bessho H, Saito M, Takahashi H, Tan X, Azuma K, Kikushima W, Mukai R, Ohira A, Gomi F, Miyata K, Takahashi K, Kishi S, Iijima H, Sekiryu T, Iida T, Awata T, Inoue S, Yamada R, Matsuda F, Tsujikawa A, Negi A, Yoneya S, Iwata T, Yoshimura N. A prospective multicenter study on genome wide associations to ranibizumab treatment outcome for age-related macular degeneration. Sci Rep. 2017;7:9196.
  • Mabuchi F, Mabuchi N, Sakurada Y, Yoneyama S, Kashiwagi K, Iijima H, Yamagata Z, Takamoto M, Aihara M, Iwata T, Kawase K, Shiga Y, Nishiguchi KM, Nakazawa T, Ozaki M, Araie M; Japan Glaucoma Society Omics Group (JGS-OG). Additive effects of genetic variants associated with intraocular pressure in primary open-angle glaucoma. PLoS One. 2017;12(8):e0183709.
  • Hayashi T, Sasano H, Katagiri S, Tsunoda K, Kameya S, Nakazawa M, Iwata T, Tsuneoka H. Heterozygous deletion of the OPA1 gene in patients with dominant optic atrophy. Jpn J Ophthalmol. 2017 Jul 1. doi: 10.1007/s10384-017-0522-0.
  • Ueno S, Nakanishi A, Sayo A, Kominami T, Ito Y, Hayashi T, Tsunoda K, Iwata T, Terasaki H. Differences in ocular findings in two siblings: one with complete and other with incomplete achromatopsia. Doc Ophthalmol. 2017 Apr;134(2):141-147.
  • Shim MS, Takihara Y, Kim K-Y, Iwata T, Yue BYJT, Inatani M, Weinreb RN, Perkins GA, and Ju W-K. Mitochondrial pathogenic mechanism and degradation in optineurin E50K mutation-mediated retinal ganglion cell degeneration. Sci Rep. 2017 Jan 19;7:40460.
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  • Gyan Prakash, Takeshi Iwata. Foundation of Asian Eye Genetics Consortium (AEGC), Advances in Vision Research Volume I, Essentials in Ophthalmology, Springer, 2017;1:1-8.
  • Akiyama G, Matsumoto CS, Shinoda K, Terauchi G, Matsumoto H, Watanabe E, Iwata T, Mizota A, Miyake Y. Intraoperative electrophysiological evaluations of macular function during peripheral scleral indentation. Sci Rep. 2016 Oct 20;6:35164.
  • Ueno S, Nakanishi A, Kominami T, Ito Y, Hayashi T, Yoshitake K, Kawamura Y, Tsunoda K, Iwata T, Terasaki H. In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant. Jpn J Ophthalmol. 2016 Oct 7.
  • Minegishi Y, Nakayama M, Iejima D, Iwata T. Significance of Optineurin Mutations in Glaucoma and Other Diseases. Prog Ret Eye Res 2016;S1350-9462(16)30061-1.
  • Minegishi Y, Sheng X, Yoshitake K, Sergeev Y, Iejima D, Shibagaki Y, Monma N, Ikeo K, Furuno M, Zhuang W, Liu Y, Rong W, Hattori A, Iwata T. CCT2 Mutations Evoke Leber Congenital Amaurosis due to Chaperone Complex Instability. Sci Rep 2016;6:33742.
  • Iwata T. Establishment of the Indian Chapter for Asian Eye Genetics Consortium. Indian J Ophthalmol. 2016;64:484
  • Fujinami K, Kameya S, Kikuchi S, Ueno S, Kondo M, Hayashi T, Shinoda K, Machida S, Kuniyoshi K, Kawamura Y, Akahori M, Yoshitake K, Katagiri S, Nakanishi A, Sakuramoto H, Ozawa Y, Tsubota K, Yamaki K, Mizota A, Terasaki H, Miyake Y, Iwata T, Tsunoda K. Novel RP1L1 Variants and Genotype-Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular Dystrophy. Invest Ophthalmol Vis Sci. 2016;57:4837-46
  • Suga A, Mizota A, Kato M, Kuniyoshi K, Yoshitake K, Sultan W, Yamazaki M, Shimomura Y, Ikeo K, Tsunoda K, Iwata T. Identification of novel mutations in the LRR-cap domain of C21orf2 in Japanese patients with retinitis pigmentosa and cone-rod dystrophy. Invest Ophthalmol Vis Sci 2016;57:4255 – 4263
  • Kuniyoshi K, Hayashi T, Sakuramoto H, Mishima H, Tsuneoka H, Tsunoda K, Iwata T, Shimomura Y. New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome. Jpn J Ophthalmol. 2016 Aug 13.
  • Yagura K, Shinoda K, Matsumoto S, Terauchi G, Kawashima M, Watanabe E, Matsumoto H, Iwata T, Mizota A, Miyake Y. Electroretinographic evaluations of retinal function before, just after, and after intravitreal injections. Sci Rep 2016 Aug 5;6:31104. doi: 10.1038/srep31104.
  • Nakanishi A, Ueno S, Hayashi T, Katagiri S, Kominami T, Ito Y, Gekka T, Masuda Y, Tsuneoka H, Shinoda K, Hirakata A, Inoue M, Fujinami K, Tsunoda K, Iwata T, Terasaki H. Clinical and genetic findings of autosomal recessive bestrophinopathy in Japanese cohort. Am J Ophthalmol. 2016;S0002-9394:30198-2
  • Biswas P, Chavali VR, Agnello G, Stone E, Chakarova C, Duncan JL, Kannabiran C, Homsher M, Bhattacharya SS, Naeem MA, Kimchi A, Sharon D, Iwata T, Riazuddin S, Reddy GB, Hejtmancik JF, Gerogiou G, Riazuddin SA, Ayyagari R. A missense mutation in the ASRGL1 gene is involved in causing autosomal recessive retinal degeneration. Hum Mol Genet. 2016
  • Kuniyoshi K, Muraki-Oda S, Ueyama H, Toyoda F, Sakuramoto H, Ogita H, Irifune M, Yamamoto S, Nakao A, Tsunoda K, Iwata T, Ohji M, Shimomura Y. Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia. Jpn J Ophthalmol. 2016;60:187-97
  • Katagiri S, Hayashi T, Yoshitake K, Akahori M, Ikeo K, Gekka T, Tsuneoka H, Iwata T. RPE65 mutations in two Japanese families with Leber congenital amaurosis. Ophthalmic Genetics 2016;37:161-169
  • Nakanishi A, Ueno S, Kawano K, Ito Y, Kominami T, Yasuda S, Kondo M, Tsunoda K, Iwata T, Terasaki H. Pathologic Changes of Cone Photoreceptors in Eyes With Occult Macular Dystrophy. Invest Ophthalmol Vis Sci. 2015;56:7243-9
  • Iejima D, Nakayama M, Iwata T, HTRA1 Overexpression Induces the Exudative Form of Age-Related Macular Degeneration. Age-Related Macular Degeneration. J Stem Cells 2015;10:193-203
  • Katagiri S, Hayashi T, Ohkuma Y, Sekiryu T, Takeuchi T, Gekka T, Kondo M, Iwata T, Tsuneoka H. Mutation analysis of BEST1 in Japanese patients with Best’s vitelliform macular dystrophy. Br J Ophthalmol. 2015;99:1577-82
  • Katagiri S, Hayashi T, Yoshitake K, Sergeev Y, Akahori M, Furuno M, Nishino J, Ikeo K, Tsunoda K, Tsuneoka H, Iwata T. Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K). Ophthalmic Genet. 2015;36:137-44
  • Kato Y, Tsunoda K, Fujinami K, Iwata T, Saga M, Oguchi Y. Association of Retinal Artery and Other Inner Retinal Structures With Distribution of Tapetal-like Reflex in Oguchi’s Disease. Invest Ophthalmol Vis Sci. 2015;56:2162-72
  • Iwata T. Author Response: Postnatal Overexpression of the Human ARMS2 Gene Does Not Induce Abnormalities in Retina and Choroid in Transgenic Mouse Models. Invest Ophthalmol Vis Sci. 2015; 56:1389
  • Kuniyoshi K, Sakuramoto H, Yoshitake K, Ikeo K, Furuno M, Tsunoda K, Kusaka S, Shimomura Y, Iwata T. Reduced rod electroretinograms in carrier parents of two Japanese siblings with autosomal recessive retinitis pigmentosa associated with PDE6B gene mutations. Doc Ophthalmol. 2015;131:71-9
  • Iejima D, Itabashi T, Kawamura Y, Noda T, Yuasa S, Fukuda K, Oka C, Iwata T. High-Temperature Requirement A Serine Peptidase 1 Gene is Transcriptionally Regulated by Insertion/Deletion Nucleotides Located at the 3 Prime End of Age-Related Maculopathy Susceptibility 2 Gene in Patients with Age-Related Macular Degeneration. The Journal of Biological Chemistry 2015;290:2784-97
  • Kuniyoshi K, Ikeo K, Sakuramoto H, Furuno M, Yoshitake K, Hatsukawa Y, Nakao A, Kusaka S, Shimomura Y, Iwata T. Novel nonsense and splice site mutations in CRB1 gene in two Japanese patients with early-onset retinal dystrophy Documenta Ophthalmologica. Documenta Ophthalmologica 2015;130:49-55
  • Katagiri S, Hayashi T, Akahori M, Itabashi T, Nishino J, Yoshitake K, Furuno M, Ikeo K, Okada T, Tsuneoka H and Iwata T. RHO mutations (p.W126L and p.A346P) in two Japanese families with autosomal dominant retinitis pigmentosa. Journal of Ophthalmology 2014;2014:210947. doi: 10.1155/2014/210947
  • Gallenberger M, Kroeber M, Koch M, März L, Fuchshofer R, Iwata T, Braunger BM, Tamm ER. Heterozygote Wdr36-deficient mice do not develop glaucoma. Experimental Eye Research 2014;128:83-91
  • Nakayama M, Iejima D, Akahori M, Kamei J, Goto A, Iwata T. Overexpression of Htra1 and exposure to mainstream cigarette smoke leads to choroidal neovascularization and subretinal deposits in aged mice. Investigative Ophthalmology and Visual Science 2014;55:6514 – 6523
  • Katagiri S, Akahori M, Sergeev Y, Yoshitake K, Ikeo K, Furuno M, Hayashi T, Kondo M, Ueno S, Tsunoda K, Shinoda K, Kuniyoshi K, Tsurusaki Y, Matsumoto N, Tsuneoka H, Iwata T. Whole exome analysis identifies frequent CNGA1mutations in Japanese population with autosomal recessive retinitis pigmentosa. PLoS One 2014;9(9):e108721
  • Katagiri S, Hayashi T, Yoshitake K, Akahori M, Ikeo K, Gekka T, Tsuneoka H, Iwata T. Novel C8orf37 mutations in patients with early-onset retinal dystrophy, macular atrophy, cataracts, and high myopia. Ophthalmic Genetics 2014;12:1-8
  • Tanito M, Hara K, Akahori M, Harata A, Itabashi T, Takai Y, Kaidzu S, Ohira A, Iwata T. Lack of association of LOXL1 gene variants in Japanese patients with central retinal vein occlusion without clinically detectable pseudoexfoliation material deposits. Acta Ophthalmologica 2014; Aug 12
  • Matsumoto CS, Shinoda K, Matsumoto H, Funada H, Sasaki K, Minoda H, Iwata T, Mizota A. Pattern visually evoked potentials elicited by organic electro-luminescence screen. BioMed Research International 2014:606951
  • Matsumoto CS, Nakagomi R, Matsumoto H, Minoda H, Shinoda K, Iwata T, Mizota A. Binocular interaction of visually evoked cortical potentials elicited by dichoptic binocular stimulation Journal of Vision 2014;14(11). pii4
  • Matsumoto CS, Shinoda K, Matsumoto H, Seki K, Nagasaka E, Iwata T, Mizota A. What monitor can replace cathode ray tube for visual stimulation to elicit multifocal electroretinograms? Journal of Vision 2014;14(9) pii:2
  • Kobayashi H, Okamoto H, Murakami A, Iwata T. Plasma Proteome Analysis On Cynomolgus Monkey (Macaca fascicularis) Pedigrees With Early Onset Drusen Formation. Journal of Experimental Animals 2014;63:305-310
  • Kuniyoshi K, Sakuramoto H, Yoshitake K, Abe K, Ikeo K, Furuno M, Tsunoda K, Kusaka S, Shimomura Y, Iwata T. Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/severe early childhood onset retinal dystrophy with RDH12 mutation. Documenta Ophthalmologica 2014;128:219-228
  • Katagiri S, Akahori M, Hayashi T, Yoshitake K, Gekka T, Ideo K, Tsuneoka H, Iwata T. Autosomal recessive cone-rod dystrophy associated with compound heterozygous mutations in the EYS gene. Documenta Ophthalmologica 2014;128:211 – 2117
  • Ohkuma Y, Hayashi T, Sakai T, Watanabe A, Yamada H, Akahori M, Itabashi T, Iwata T, Noda T, Tsuneoka H.: Retinal angiomatous proliferation associated with risk alleles of ARMS2/HTRA1 gene polymorphisms in Japanese patients. Journal of Clinical Ophthalmology 2014;8:143-8
  • Iwata T, Animal Models for Eye Diseases, Handbook of Laboratory Animal Science III, (Editor: Hau J and Schapiro SJ) CRC Press 2014;195-217
  • 赤堀正和、岩田岳、黄斑ジストロフィー、特集 ゲノムと網膜関連疾患の関与を探る(編集:山城健児)、RETINA Medicine、先端医学社 2014;3:33-37
  • Katagiri S, Yoshitake K, Akahori M, Hayashi T, Furuno M, Nishino J, Ikeo K, Tsuneoka H, Iwata T. Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alstrom Syndrome. Molecular Vision 2013;19:2393-406
  • Sakuramoto H, Kuniyoshi K, Tsunoda K, Akahori M, Iwata T, Shimomura Y. Two siblings with late-onset cone-rod dystrophy and no visible macular degeneration. Journal of Clinical Ophthalmology. 2013;7:1703-11
  • Nakamura N, Tsunoda K, Fujinami K, Shinoda K, Tomita K, Hatase T, Usui T, Akahori M, Iwata T, Miyake Y. [Long-term observation over ten years of four cases of cone dystrophy with supernormal rod electroretinogram]. Nihon Ganka Gakkai Zasshi. 2013;117:629-40
  • Fujinami K, Tsunoda K, Nakamura N, Kato Y, Noda T, Shinoda K, Tomita K, Hatase T, Usui T, Akahori M, Itabashi T, Iwata T, Ozawa Y, Tsubota K, Miyake Y. Molecular characteristics of four Japanese cases with KCNV2 retinopathy: report of novel disease-causing variants. Molecular Vision 2013;19:1580-90
  • Minegishi Y, Iejima D, Kobayashi H, Chi Z-L, Kawase K, Yamamoto T, Seki T, Yuasa S, Fukuda K, Iwata T. Enhanced optineurin E50K-TBK1 interaction evokes protein insolubility and initiates familial primary open-angle glaucoma. Human Molecular Genetics 2013;22:3559-67
  • 岩田岳、日米の眼研究の架け橋 Jin H. Kinoshita先生を偲んで (編集:堀田喜裕)、あたらしい眼科、メディカル葵出版 2013;30:1417-8
  • 岩田岳、古野正朗、池尾一穂、全エクソーム解析による遺伝性網脈絡膜疾患の原因遺伝子探索、エクソーム解析 ‐成果と将来‐ (編集:松本直道)、医学のあゆみ、医歯薬出版株式会社 2013;245:401-407
  • 岩田岳、眼疾患をきたす遺伝子変化、第117回日眼評議員会指名講演:「眼疾患と遺伝子」をより理解するために、日本の眼科、公益社団法人日本眼科医会 2013;84:265-269
  • 岩田岳、Optineurinと正常眼圧緑内障、Digestシリーズ (編集:本庶佑)、Medical Science Digest、ニューサイエンス社 2013;39:2-4
  • 岩田岳、緑内障の遺伝子とその機能解析、緑内障の病態と疫学、高齢者の視覚障害とそのケア(編集:小口芳久)、公益財団法人長寿科学振興財団、2013;107-118
  • Chen CJ, Scholl HP, Birch DG, Iwata T. Miller NR, Goldberg MF. Characterizing the phenotype and genotype of a family with occult macular dystrophy. JAMA Ophthalmology 2012;130:1554-9
  • Thakkinstian A, McEvoy M, McKay GJ, Chakravarthy U, Chakrabati S, Kaur I, Silvetri G, Francis P, Iwata T, Akahori M, Farwick A, Euijung R, Edward A, Seddon JM, Attia J. The association between complement component 2/complement factor B polymorphisms and age-related macular degeneration: A HuGE review and meta-analysis. American Journal of Epedemiology 2012;176:361-372
  • Kabuto T, Takahashi H, Goto-Fukuura Y, Igarashi T, Akahori M, Kameya S, Iwata T, Mizota A, Yamaki K, Miyake Y, Takahashi H. A new mutation in the RP1L1 gene in a patient with occult macular dystrophy associated with a depolarizing pattern of focal macular electroretinograms. Molecular Vision 2012;18:1031-9
  • Tsunoda K, Usui T, Hatase T, Yamai S, Fujinami K, Hanazono G, Shinoda K, Ohde H, Akahori M, Iwata T, Miyake Y. Clinical characteristics of occult macular dystrophy in a large family with mutation of RP1L1 gene. Retina 2012;32:1135-47
  • Hara K, Akahori M, Tanito M, Kaidzu S, Ohira A, Iwata T. Analysis of LOXL1 gene variants in Japanese patients with branch retinal vein occlusion. Molecular Vision 2011;17:3309-13
  • Fujinami K, Akahori M, Fukui M, Tsunoda K, Iwata T, Miyake Y. Stargardt disease with preserved central vision: identification of a putative novel mutation in ATP-binding cassette transporter gene. Acta Ophthalmologica 2011;89(3):e297-8. doi: 10.1111/j.1755-3768.2009.01848.x
  • Jin ZB, Okamoto S, Osakada F, Homma K, Assawachananont J, Hirami Y, Iwata T, Takahashi M. Modeling retinal degeneration using patient-specific induced pluripotent stem cells. PLoS One 2011;6(2):e17084
  • 岩田岳、眼科と補体、補体への招待、メディカルビュー社 2011;189-193
  • 岩田岳、視力・色覚を司る黄斑の生理機能と黄斑変性の分子メカニズム、視覚・聴覚のNeuroscience、実験医学、羊土社 2011;29:526-532
  • Shen X, Ying H, Qiu Y, Park J-S, Shyam R, Chi Z-L, Iwata T, Yue BYJT. Processing of optineurin in neuronal cells. The Journal of Biological Chemistry 2011;286:3618-29
  • Akahori M, Tsunoda K, Miyake Y, Fukuda Y, Ishiura H, Tsuji S, Hatase T, Nakamua M, Ohde H, Itabashi T, Okamoto H, Takada Y, and Iwata T. Dominant mutations in RP1L1 gene are responsible for occult macular dystrophy. The American Journal of Human Genetics 2010;87:424-429
  • Chi Z-L, Yoshida T, Lambris JD, and Iwata T. Suppression of drusen formation by compstatin, a peptide inhibitor of complement C3 activation, on Cynomolgus monkey with early-onset macular degeneration. Currrent Topics on Complement and Eye Disease, Advances in Experimental Medicine and Biology 2010;703:127-135
  • Chi Z-L, Yasumoto F, Sergeev Y, Minami M, Obazawa M, Kimura I, Takada Y, and Iwata T. Mutant WDR36 directly affects axon growth of retinal ganglion cells leading to progressive retinal degeneration in mice. Human Molecular Genetics 2010;19:3806 – 3815
  • Chi Z-L, Akahori, A, Obazawa M, Minami M, Noda T, Nakaya N, Tomarev S, Kawase K, Yamamoto T, Noda S, Sasaoka M, Shimazaki A, Takada Y, and Iwata T. Overexpression of optineurin E50K disrupts Rab8 interaction and leads to a progressive retinal degeneration in mice. Human Molecular Genetics 2010;19:2605 – 2615
  • Okamoto H, Umeda S, Nozawa T, Suzuki MT, Yoshikawa Y, Matsuura ET, and Iwata T. Comparative proteomic analyses of macular versus peripheral retina in Cynomogus monkeys (Macaca fascicularis). Experimental Animal 2010;59:171-178
  • Fujikawa K, Iwata T, Inoue K, Akahori M, Kadotani H, Fukaya M, Watanabe M, Chang Q, Barnett EM, and Swat W. Vav2 and Vav3 as candidate disease gene for spontaneous glaucoma in mice and human. PLoS One 2010;5:e9050
  • Goto A, Akahori A, Okamoto H, Minami M, Terauchi N, Haruhata Y, Obazawa M, Noda T, Honda M, Mizota A, Tanaka M, Hayashi T, Tanito M, Ogata N, and Iwata T. Genetic analysis of typical wet-type age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese population. Journal of Ocular Biology, Disease, and Informatics 2009;2:164-175
  • 岩田岳、緑内障遺伝子改変動物の基礎、眼薬理 2009;23:67-70
  • 岩田岳、眼疾患バイオマーカーの探索、医療 2008;62:512-515
  • Tanito M, Minami M, Akahori M, Kaidzu S, Takai Y, Ohira A, and Iwata T. LOXL1 variants in elderly Japanese patients with exfoliation syndrome/glaucoma, primary open-angle glaucoma, normal tension glaucoma, and cataract. Molecular Vision 2008;14:1898-1905
  • Kaidzu S, Tanito M, Ohira A, Umeda S, Suzuki M, Yoshikawa Y, and Iwata T. Immunohistochemical analysis of aldehyde-modified proteins in drusen in cynomolgus monkeys (Macaca fascicularis). Experimental Eye Research 2008;86:856-859
  • 岩田岳、緑内障の動物モデル(2)-マウスモデル、その他-、あたらしい眼科、株式会社メディカル葵出版 2007;24:1049
  • 岩田岳、緑内障の動物モデル(1)-霊長類モデル、ラットモデル-、あたらしい眼科、株式会社メディカル葵出版 2007;24:909
  • Iwata T. Complement Activation of Drusen in Primate Model (Macaca fascicularis) for Age-Related Macular Degeneration. Currrent Topics in Innate Immunity, Advances in Experimental Medicine and Biology, Springer 2007;251-259
  • Iwata T. and Tomarev S. Animal Models for Eye Diseases and Therapeutics, Source Book of Biomedical Research, Humana Press Inc. 2007;279-287
  • 岩田岳、網膜・硝子体のプロテオーム解析、日本の眼科、公益社団法人日本眼科医会 2007;78:577-582
  • Yoshida T, Wan AD, Zhang H, Sakamoto R, Okamoto H, Minami M, Obazawa M, Mizota A, Tanaka M, Saito Y, Takagi I, Hoh J, and Iwata T. HTRA1 Promoter Polymorphism Predisposes Japanese to AMD. Molecular Vision 2007;13:545-548
  • Shibuya M, Okamoto H, Nozawa T, Utsumi J, Reddy VN, Echizen H, Tanaka Y, and Iwata T. Proteomic & Transcriptomic Analyses of Retinal Pigment Epithelial Cells Exposed to REF-1/TFPI-2, a Growth Promoting Factor. Investigative Ophthalmology and Visual Science 2007;48:516-521
  • 岩田岳、我が国の先端的眼科研究の立場から -失明を防ぐための多面的なアプローチ-、バイオサイエンスとインダストリー 2006;64:625-629
  • 岩田岳、加齢黄斑変性の遺伝子研究の最前線、特集:網膜脈絡膜変性疾患のアップデート、あたらしい眼科、株式会社メディカル葵出版 2006;23:1125-1131
  • Darmanin C, Iwata T, Carper DA and El-Kabbani O. Discovery of potential sorbitol dehydrogenase inhibitors from virtual screening. Journal of Medical Chemistry 2006;59:558-560
  • Okamoto H, Umeda S, Obazawa M, Minami M, Noda T, Mizota A, Honda M, Tanaka M, Koyama R, Takagi I, Sakamoto Y, Saito Y, Miyake Y, and Iwata T. Complement Factor H Polymorphisms in Japanese Population with Age-Related Macular Degeneration. Molecular Vision 2006;12:156-158
  • Hejtmancik JF, Kantorow M, and Iwata T. Models of Age Related Vision Problems, Handbook of Models for Human Aging. Academic Press, Elsevier Inc. 2006;812-828
  • Izumi K, Kurosaka D, Iwata T, Oguchi Y, Tanaka Y, Mashima Y, and Tsubota K. Involvement of Insulin-like Growth Factor-I and Insulin-like Growth Factor Binding Protein-3 in Corneal Fibroblasts during Corneal Wound Healing. Investive Ophthalmology and Visual Science 2006;47:591-598
  • 岩田岳、遺伝子解析の現状、またその行方は? 打倒!加齢黄斑変性、眼科インストラクションコース株式会社メディカルビュ – 2005;20-23
  • Umeda S, Suzuki MT , Okamoto H, Ono F, Mizota A, Terao K, Yoshikawa Y, Tanaka Y, and Iwata T. Molecular composition of drusen and possible involvement of anti-retinal autoimmunity in two different forms of macular degeneration in cynomolgus monkey (Macaca fascicularis). FASEB Journal 2005;19:1683-1685
  • Umeda S, Ayyagari R, Allikmets R, Suzuki MT, Karoukis AJ, Ambasudhan R, Zernant J, Okamoto H, Ono F, Terao K, Atsushi M, Yoshikawa Y, Tanaka Y, and Iwata T. Early onset macular degeneration with drusen in a cynomolgus monkey (Macaca fascicularis) pedigree caused by a novel gene mutation. Investive Ophthalmology and Visual Science 2005;46:683-691
  • 岩田岳、真島行彦、インベーダー法を用いた緑内障の遺伝子解析」 Bio Medical Quick Review Net  記事番号 4001 http://www.medicaldo.co.jp/application_r.html 株式会社メディカルデゥ 2004
  • Funayama T, Ishikawa K, Ohtake Y, Tanino T, Kurosaka D, Kimura I, Sohma K, Suzuki K, Ideta H, Nakamoto K, Yasuda N, Fujimaki T, Murakami A, Asaoka R, Hotta Y, Kimura A, Tanihara H, Kanemoto T, Mishima H, Fukuchi T, Abe H, Iwata T, Oguchi Y, Kudoh J, Shimizu N, and Mashima Y. Variants in Optineurin Gene and their Association with Tumor Necrosis Factor-alpha (-857C>T) Polymorphisms in Japanese Patients with Glaucoma. Investigative Ophthalmology and Visual Science 2004;45:4359 – 4367
  • Ishikawa K, Funayama T, Ohtake Y, Tanino T, Kurosaka D, Suzuki K, Ideta H, Fujimaki T, Tanihara H, Asaoka R, Naoi N, Yasuda N, Iwata T, and Mashima Y. Novel MYOC Gene Mutation, Phe369Leu, in Japanese Patients with Primary Open-Angle Glaucoma Detected by Denaturing High-Performance Liquid Chromatography. Journal of Glaucoma 2004;13:466-471
  • Niizeki H, Matsunaga T, Iwata T, Shimizu T, Kurimoto I, Naruse T, Inoko H, Streilein J W. The MICA5.1 allele is not associated with susceptibility to effects of ultraviolet-B radiation on induction of contact hypersensitivity. Journal of Dermatology Science 2004;35:221-223
  • Obazawa M, Mashima Y, Sanuki N, Noda S, Kudoh J, Shimizu N, Tanaka Y, and Iwata T. Comparable Analysis of Porcine Optineurin and Myocilin Expression in Trabecular Meshwork Cells and Astrocytes from Optic Nerve Head. Investigative Ophthalmology and Visual Science 2004;45:2652 – 2659
  • Tanaka Y, Utsumi J, Matsui M, Sudo T, Nakamura N, Mutoh M, Kajita A, Sone S, Kigasawa K, Shibuya M, Reddy VN, Zhang Q, and Iwata T. Purification, Molecular Cloning, and Expression of a Novel Growth Promotive Factor for Retinal Pigment Epithelial Cells, REF-1/TFPI-2. Investigative Ophthalmology Visual Science 2004;45:245-252
  • 岩田岳、渋谷昌彦、REF-1の機能解析: Applied Biosystems 1700 ケミルミネッセントマイクロアレイアナライザを用いた網膜色素上皮細胞増殖因子 REF-1 の機能解析 バイオビート http://www.appliedbiosystems.co.jp/website/jp/biobeat/top.jsp 日本アプライドバイオシステムズ株式会社 2004
  • Izumi K, Mashima Y, Obazawa M, Ohtake Y, Tanino T, Miyata H, Tanaka Y, and Iwata T. Variants of Myocilin Gene in Japanese Patients With Normal Tension Glaucoma. Ophthalmic Research 2003;35:345-350
  • Zhang Q, Mashima Y, Noda S, Imamura Y, Kudoh J, Shimizu N, Nishiyama T, Umeda S, Tanaka Y, and Iwata T. Characterization of AOC2 Gene Encoding a Copper-binding Amine Oxidase Expressed Specifically in Retina. Gene 2003;318:45-53
  • Umeda S, Suzuki MT, Yoshikawa Y, Iwata F, Fujiki K, Kanai A, Sanuki N, Tanaka Y, and Iwata T. Cloning and Characterization of ELVLO4 Gene in Cynomolgus (Macaca fascicularis) Monkey. Experimental Animal 2003;52:(2)
  • Darmanin C, Iwata T, Carper DA, Sparrow LG, Chung R P-T and El-Kabbani O. Expression, purification and preliminary crystallographic analysis of human sorbitol dehydrogenase. Acta Crystallographica 2003;D59:558-560
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