Differentiation and time specific gene Identification by the mapping of transcriptional start site

• Project/Area Number: 16H05159
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Human genetics
• Research Institution: Nagasaki University
• Principal Investigator: YOSHIURA Koh-ichiro 長崎大学, 原爆後障害医療研究所, 教授 (00304931)
• Research Collaborator: KINOSHITA Akira ; MISHIMA Hiroyuki
• Project Period (FY): 2016-04-01 – 2019-03-31
• Project Status: Completed (Fiscal Year 2018)
• Budget Amount: ¥17,550,000 (Direct Cost: ¥13,500,000、Indirect Cost: ¥4,050,000); Fiscal Year 2018: ¥6,370,000 (Direct Cost: ¥4,900,000、Indirect Cost: ¥1,470,000); Fiscal Year 2017: ¥5,460,000 (Direct Cost: ¥4,200,000、Indirect Cost: ¥1,260,000); Fiscal Year 2016: ¥5,720,000 (Direct Cost: ¥4,400,000、Indirect Cost: ¥1,320,000)
• Keywords: 転写産物 / 5'末端 / switching 法 / 虹彩 / 眼 / 全長RNA / 新規遺伝子 / 5'転写開始点 / 次世代シーケンサー / 組織特異的転写物 / 細胞特異的転写物 / 転写開始点 / cDNA / tag カウント / switching / concatamerization

Outline of Final Research Achievements

We isolated a transcript playing key role for developing anterior segment of eyes. The transcription starts at the middle of exon coding known protein, so it was so difficult to identify the expression due to its amount of expression and its transcription start point. The protein coded by the short transcript is proved to be in gene edited mice eye harboring tag-peptides, and to be important for iris, epithelium of cornea in their early developing stage.
The switching method using reverse transcriptase from M-MLV, mouse moloney leukemia virus, is very effective method to identify 5’-end of transcript inhibiting concatemerizatio of switching oligo RNA and maxmizing the switching efficiency.

Academic Significance and Societal Importance of the Research Achievements

虹彩，角膜などの眼前方部の発生に重要な遺伝子転写産物を新規に同定することが出来た。学術的には，転写開始される場所を変えた新規遺伝子が，生体内で発生に重要な新たな機能を持つことを示した。つまり，まだまだ重要な転写産物が，身悪阻されている可能性を示している。
社会的には，角膜の発生に関わる初期段階に働くタンパク質を見つけたことで，角膜再生医療における重要タンパクの一つを発見したといえる。

Research Products

• [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
• [Journal Article] Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome. (2018)
  • Author(s): Dateki S, Kitajima T, Kihara T, Watanabe S, Yoshiura KI, Moriuchi H.
  • Journal Title: Hum Genome Var. Volume: 5 Issue: 1 Pages: 18014-18014
  • DOI: 10.1038/hgv.2018.14
  • Peer Reviewed
• [Journal Article] A novel heterozygous GLI2 mutation in a patient with congenital urethral stricture and renal hypoplasia/dysplasia leading to end-stage renal failure. (2018)
  • Author(s): Shirakawa T, Nakashima Y, Watanabe S, Harada S, Kinoshita M, Kihara T, Hamasaki Y, Shishido S, Yoshiura KI, Moriuchi H, Dateki S.
  • Journal Title: CEN Case Rep. Volume: 7 Issue: 1 Pages: 94-97
  • DOI: 10.1007/s13730-018-0302-9
  • Peer Reviewed
• [Journal Article] Reference values for circulating pregnancy-associated microRNAs in maternal plasma and their clinical usefulness in uncomplicated pregnancy and hypertensive disorder of pregnancy (2018)
  • Author(s): Murakami Y, Miura K, Sato S, Higashijima A, Hasegawa Y, Miura S, Yoshiura KI, Masuzaki H
  • Journal Title: Journal of Obstetrics and Gynaecology Research Volume: 印刷中 Issue: 5 Pages: 840-851
  • DOI: 10.1111/jog.13610
  • Peer Reviewed
• [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
• [Journal Article] Auto-immune disorders in a child with PIK3CD variant and 22q13 deletion. (2018)
  • Author(s): Kiyota K, Yoshiura KI, Houbara R, Miyahara H, Korematsu S, Ihara K.
  • Journal Title: Eur J Med Genet. Volume: 61 Issue: 10 Pages: 631-633
  • DOI: 10.1016/j.ejmg.2018.04.008
  • Peer Reviewed
• [Journal Article] Patients with SATB2-associated syndrome exhibiting multiple odontomas. (2018)
  • Author(s): Kikuiri T, Mishima H, Imura H, Suzuki S, Matsuzawa Y, Nakamura T, Fukumoto S, Yoshimura Y, Watanabe S, Kinoshita A, Yamada T, Shindoh M, Sugita Y, Maeda H, Yawaka Y, Mikoya T, Natsume N, Yoshiura KI.
  • Journal Title: Am J Med Genet A. Volume: 176 Issue: 12 Pages: 2614-2622
  • DOI: 10.1002/ajmg.a.40670
  • Peer Reviewed
• [Journal Article] Comprehensive methylation analysis of imprinting-associated differentially methylated regions in colorectal cancer. (2018)
  • Author(s): Hidaka H, Higashimoto K, Aoki S, Mishima H, Hayashida C, Maeda T, Koga Y, Yatsuki H, Joh K, Noshiro H, Iwakiri R, Kawaguchi A, Yoshiura KI, Fujimoto K, Soejima H.
  • Journal Title: Clin Epigenetics Volume: 10 Issue: 1 Pages: 150-150
  • DOI: 10.1186/s13148-018-0578-9
  • Peer Reviewed / Open Access
• [Journal Article] Chromosomal analysis of myelodysplastic syndromes among atomic bomb survivors in Nagasaki. (2018)
  • Author(s): Horai M, Satoh S, Matsuo M, Iwanaga M, Horio K, Jo T, Takasaki Y, Kawaguchi Y, Tsushima H, Yoshida S, Taguchi M, Itonaga H, Sawayama Y, Taguchi J, Imaizumi Y, Hata T, Moriuchi Y, Haase D, Yoshiura KI, Miyazaki Y.
  • Journal Title: Br J Haematol. Volume: 180 Issue: 3 Pages: 381-390
  • DOI: 10.1111/bjh.15050
  • Peer Reviewed / Int'l Joint Research
• [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
• [Journal Article] A Hot-spot Mutation in CDC42 (p.Tyr64Cys) and Novel Phenotypes in a Third Patient with Takenouchi-Kosaki Syndrome. (2018)
  • Author(s): Motokawa M, Watanabe S, Nakatomi A, Kondoh T, Matsumoto T, Morifuji K, Sawada H, Nishimura T, Nunoi H, Yoshiura KI, Moriuchi H, Dateki S.
  • Journal Title: J Hum Genet. Volume: 63 Issue: 3 Pages: 387-390
  • DOI: 10.1038/s10038-017-0396-5
  • Peer Reviewed
• [Journal Article] MicroRNA-204-3p inhibits lipopolysaccharide-induced cytokines in familial Mediterranean fever via the phosphoinositide 3-kinase γ pathway (2017)
  • Author(s): Koga Tomohiro,Migita Kiyoshi,Sato Tomohito,Sato Shuntaro,Umeda Masataka,Nonaka Fumiaki,Fukui Shoichi,Kawashiri Shin-ya,Iwamoto Naoki,Ichinose Kunihiro,Tamai Mami,Nakamura Hideki,Origuchi Tomoki,Ueki Yukitaka,Masumoto Junya,Agematsu Kazunaga,Yachie Akihiro,Yoshiura Koh-ichiro,Eguchi Katsumi,Kawakami Atsushi
  • Journal Title: Rheumatology Volume: 57 Issue: 4 Pages: 718-726
  • DOI: 10.1093/rheumatology/kex451
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Sick sinus syndrome with HCN4 mutations shows early onset and frequent association with atrial fibrillation and left ventricular noncompaction. (2017)
  • Author(s): Ishikawa T, Horie M, et al.
  • Journal Title: Heart Rhythm Volume: 印刷中 Issue: 5 Pages: 717-724
  • DOI: 10.1016/j.hrthm.2017.01.020
  • Peer Reviewed / Open Access
• [Journal Article] Analysis of clinical symptoms and ABCC6 mutations in 76 Japanese patients with pseudoxanthoma elasticum. (2017)
  • Author(s): Iwanaga A, Okubo Y, Yozaki M, Koike Y, Kuwatsuka Y, Tomimura S, Yamamoto Y, Tamura H, Ikeda S, Maemura K, Tsuiki E, Kitaoka T, Endo Y, Mishima H, Yoshiura KI, Ogi T, Tanizaki H, Wataya-Kaneda M, Hattori T, Utani A.
  • Journal Title: Journal of Dermatology Volume: 印刷中 Issue: 6 Pages: 644-650
  • DOI: 10.1111/1346-8138.13727
  • Peer Reviewed / Open Access / Int'l Joint Research
• [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
• [Journal Article] Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation. (2017)
  • Author(s): Dateki S, Nakatomi A, Watanabe S, Shimizu H, Inoue Y, Baba H, Yoshiura KI, Moriuchi H.
  • Journal Title: J Hum Genet. Volume: 62 Issue: 7 Pages: 717-721
  • DOI: 10.1038/jhg.2017.33
  • Peer Reviewed
• [Journal Article] Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 Mutation. (2017)
  • Author(s): Seki A, Ishikawa T, Daumy X, Mishima H, Barc J, Sasaki R, Nishii K, Saito K, Urano M, Ohno S, Otsuki S, Kimoto H, Baruteau AE, Thollet A, Fouchard S, Bonnaud S, Parent P, Shibata Y, Perrin JP, Le Marec H, Hagiwara N, Mercier S, Horie M, Probst V, Yoshiura KI, Redon R, Schott JJ, Makita N.
  • Journal Title: J Am Coll Cardiol. Volume: 70 Issue: 3 Pages: 358-370
  • DOI: 10.1016/j.jacc.2017.05.039
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Fetiform teratoma was a parthenogenetic tumour arising from a mature ovum (2017)
  • Author(s): Miura K, Kurabayashi T, Satoh C, Sasaki K, Ishiguro T, Yoshiura KI and Masuzaki H
  • Journal Title: Journal of Human Genetics Volume: 印刷中 Issue: 9 Pages: 803-808
  • DOI: 10.1038/jhg.2017.45
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Effects of HLA-DRB1 alleles on susceptibility and clinical manifestations in Japanese patients with adult onset Still's disease. (2017)
  • Author(s): Asano T, Furukawa H, Sato S, Yashiro M, Kobayashi H, Watanabe H, Suzuki E, Ito T, Ubara Y, Kobayashi D, Iwanaga N, Izumi Y, Fujikawa K, Yamasaki S, Nakamura T, Koga T, Shimizu T, Umeda M, Nonaka F, Yasunami M, Ueki Y, Eguchi K, Tsuchiya N, Tohma S, Yoshiura KI, Ohira H, Kawakami A, Migita K.
  • Journal Title: Arthritis Res Ther. Volume: 19 Issue: 1 Pages: 199-199
  • DOI: 10.1186/s13075-017-1406-x
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Two consecutive successful live birth in woman with 17α hydroxylase deficiency by frozen-thaw embryo transfer under hormone replacement endometrium preparation. (2017)
  • Author(s): Kitajima M, Miura K, Inoue T, Murakami Y, Kitajima Y, Murakami N, Taniguchi K, Yoshiura KI, Masuzaki H.
  • Journal Title: Gynecol Endocrinol. Volume: 25 Issue: 5 Pages: 1-4
  • DOI: 10.1080/09513590.2017.1393512
  • Peer Reviewed
• [Journal Article] Postmortem genetic analysis of sudden unexpected death in infancy: neonatal genetic screening may enable the prevention of sudden infant death. (2017)
  • Author(s): Oshima Y, Yamamoto T, Ishikawa T, Mishima H, Matsusue A, Umehara T, Murase T, Abe Y, Kubo SI, Yoshiura KI, Makita N, Ikematsu K.
  • Journal Title: J Hum Genet. Volume: 62 Issue: 11 Pages: 989-995
  • DOI: 10.1038/jhg.2017.79
  • Peer Reviewed
• [Journal Article] SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. (2017)
  • Author(s): Shaw ND, Brand H, Kupchinsky ZA, Sato D, Okamoto N, Jacobsen C, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM Jr, Lin AE, Katsanis N, Jones PL, Crowley WF Jr, Davis EE, FitzPatrick DR, Talkowski ME. その他
  • Journal Title: Nature Genetics Volume: 49(2) Issue: 2 Pages: 238-248
  • DOI: 10.1038/ng.3743
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] De novo mutations in SMCHD1 abrogate nasal development. (2017)
  • Author(s): Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura K-i, Oufadem M, Beck TJ, McGowan R, Teo ASM, Cunningham ML, Sefiani A, Kayserili H, Murphy JM, Chatdokmaiprai C, Hillmer AM, Wattanasirichaigoon D, Lyonnet S, Magdinier F, Javed A, Blewitt ME, Amiel J, Wollnik B, Reversade B. その他
  • Journal Title: Nature Genetics Volume: 49(2) Issue: 2 Pages: 249-255
  • DOI: 10.1038/ng.3765
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Genetic variants in oxytocin receptor and arginine-vasopressin receptor 1A are associated with the neural correlates of maternal and paternal affection towards their child. (2017)
  • Author(s): Nishitani S, Ikematsu K, Takamura T, Honda S, Yoshiura KI, Shinohara K.
  • Journal Title: Horm Behav. Volume: 87 Pages: 47-56
  • DOI: 10.1016/j.yhbeh.2016.09.010
  • Peer Reviewed
• [Journal Article] Identification of 11p14.1-p15.3 deletion probably associated with short stature, relative macrocephaly, and delayed closure of the fontanelles. (2017)
  • Author(s): Dateki S, Watanabe S, Kinoshita F, Yoshiura KI, Moriuchi H.
  • Journal Title: Am J Med Genet. A. Volume: 173(1) Issue: 1 Pages: 217-220
  • DOI: 10.1002/ajmg.a.37978
  • Peer Reviewed
• [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
• [Journal Article] A significant association between rs8067378 at 17q12 and invasive cervical cancer originally identified by a genome-wide association study in Han Chinese is replicated in a Japanese population. (2016)
  • Author(s): Miura K, Mishima H, Yasunami M, Kaneuchi M, Kitajima M, Abe S, Higashijima A, Fuchi N, Miura S, Yoshiura KI, Masuzaki H.
  • Journal Title: J Hum Genet. Volume: 61(9) Issue: 9 Pages: 793-796
  • DOI: 10.1038/jhg.2016.50
  • NAID: 40020938176
  • Peer Reviewed
• [Journal Article] Clinical and histological findings of autosomal dominant renal-limited disease with LMX1B mutation. (2016)
  • Author(s): Konomoto T, Imamura H, Orita M, Tanaka E, Moritake H, Sato Y, Fujimoto S, Harita Y, Hisano S, Yoshiura KI, Nunoi H.
  • Journal Title: Nephrology (Carlton) Volume: 21(9) Issue: 9 Pages: 765-773
  • DOI: 10.1111/nep.12666
  • Peer Reviewed
• [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
• [Journal Article] Familial Mediterranean fever is no longer a rare disease in Japan. (2016)
  • Author(s): Migita K, Izumi Y, Jiuchi Y, Iwanaga N, Kawahara C, Agematsu K, Yachie A, Masumoto J, Fujikawa K, Yamasaki S, Nakamura T, Ubara Y, Koga T, Nakashima Y, Shimizu T, Umeda M, Nonaka F, Yasunami M, Eguchi K, Yoshiura K, Kawakami A.
  • Journal Title: Arthritis Res Ther. Volume: 18 Issue: 1 Pages: 175-175
  • DOI: 10.1186/s13075-016-1071-5
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Association between p53-binding protein 1 expression and genomic instability in oncocytic follicular adenoma of the thyroid (2016)
  • Author(s): Mussazhanova Z, Akazawa Y, Matsuda K, Shichijo K, Miura S, Otsubo R, Oikawa M, Yoshiura K, Mitsutake N, Rogounovitch T, Saenko V, Kozykenova Z, Zhetpisbaev B, Shabdarbaeva D, Sayakenov N, Amntayev B, Kondo H, Ito M, Nakashima M.
  • Journal Title: Endocrine Journal Volume: 63 Issue: 5 Pages: 457-467
  • DOI: 10.1507/endocrj.EJ15-0629
  • NAID: 130005154197
  • ISSN: 0918-8959, 1348-4540
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Genetic background of hyperphenylalaninemia in Nagasaki, Japan. (2016)
  • Author(s): Dateki S, Watanabe S, Nakatomi A, Kinoshita E, Matsumoto T, Yoshiura K, Moriuchi H.
  • Journal Title: Pediatr Int. Volume: 58(5) Issue: 5 Pages: 431-433
  • DOI: 10.1111/ped.12924
  • Peer Reviewed
• [Journal Article] Detailed analysis of 26 cases of 1q partial duplication/triplication 1 syndrome. (2016)
  • Author(s): Watanabe S, Shimizu K, Ohashi H, Kosaki R, Okamoto N, Shimojima K, Yamamoto T, Chinen Y, Mizuno S, Dowa Y, Shiomi N, Toda Y, Tashiro K, Shichijo K, Minatozaki K, Aso S, Minagawa K, Hiraki Y, Shimokawa O, Matsumoto T, Fukuda M, Moriuchi H, Yoshiura K, Kondoh T.
  • Journal Title: Am J Med Genet A Volume: 170A Issue: 4 Pages: 908-917
  • DOI: 10.1002/ajmg.a.37496
  • Peer Reviewed
• [Journal Article] Multiple Serum Cytokine Profiling to Identify Combinational Diagnostic Biomarkers in Attacks of Familial Mediterranean Fever. (2016)
  • Author(s): Koga T, Migita K, Sato S, Umeda M, Nonaka F, Kawashiri SY, Iwamoto N, Ichinose K, Tamai M, Nakamura H, Origuchi T, Ueki Y, Masumoto J, Agematsu K, Yachie A, Yoshiura K, Eguchi K, Kawakami A.
  • Journal Title: Medicine (Baltimore) Volume: 95 Issue: 16 Pages: e3449-e3449
  • DOI: 10.1097/md.0000000000003449
  • Peer Reviewed / Open Access
• [Presentation] FAS遺伝子のcompound heterozygous frameshift mutationを有する腸管MALTリンパ腫の若年例 (2019)
  • Author(s): 小浴秀樹，山下友佑，田 志宣，金澤伸雄，大島孝一，三嶋博之，木下 晃，吉浦 孝一郎，園木 孝志
  • Organizer: 第2回 日本免疫不全・自己炎症学会総会・学術集会
• [Presentation] 中條西村症候群からプロテアソーム関連自己炎症／免疫不全症候群へ (2018)
  • Author(s): 金澤伸雄，中谷友美，原知之，稲葉豊，国本佳代，古川福実，神人正寿，金城紀子，水島恒裕，三嶋博之，木下晃，吉浦孝一郎，邊見弘明，改正恒康
  • Organizer: 第25回分子皮膚科学フォーラム
• [Presentation] 爆心地周辺被爆者の子孫における新規一塩基変化の検出 (2018)
  • Author(s): 蓬莱真喜子，三嶋博之，林田知佐，木下 晃，中根允文，松尾辰樹，鶴田一人，栁原克紀，佐藤信也，今西大介，今泉芳孝，波多智子，宮﨑泰司，吉浦孝一郎
  • Organizer: 第３回 放射線災害・医科学研究拠点カンファランス
• [Presentation] 低depth全ゲノムシーケンシングによるコピー数バリエーション検出の性能評価 (2018)
  • Author(s): 三嶋博之，吉浦孝一郎
  • Organizer: 日本人類遺伝学会第63回大会
• [Presentation] ROBO1遺伝子ホモ変異は，複合型下垂体機能低下症を伴う新たな症候群の原因か？ (2018)
  • Author(s): 伊達木澄人，渡辺 聡，吉浦孝一郎，森内浩幸
  • Organizer: 日本人類遺伝学会第63回大会
• [Presentation] 妊娠を契機に深部静脈血栓症を発症し，原因遺伝子を特定出来たAT-3欠乏症の1例 (2018)
  • Author(s): 長谷川ゆり，東島 愛，大橋和明，三浦清徳，吉浦孝一郎，増﨑英明
  • Organizer: 日本人類遺伝学会第63回大会
• [Presentation] KAT6Bヘテロ接合性変異によるGenitopatellar症候群の2例 (2018)
  • Author(s): 渡辺 聡，伊達木澄人，里 龍晴，木原敏晴，濱口 陽，吉浦孝一郎，森内浩幸
  • Organizer: 日本人類遺伝学会第63回大会
• [Presentation] CFAP43遺伝子の機能喪失性変異は正常圧水頭症のリスク因子の可能性がある (2018)
  • Author(s): 森本芳郎，小野慎治，吉田真太朗，三嶋博之，木下 晃，今村 明，黒滝直弘，小澤寛樹，木住野達也，吉浦孝一郎，山口尚宏
  • Organizer: 日本人類遺伝学会第63回大会
• [Presentation] ロングリードシーケンサーのみによるヒトゲノム構造異常の評価 (2018)
  • Author(s): 吉田真太朗，森本芳郎，小野慎治，三嶋博之，木下 晃，今村 明，黒滝直弘，小澤寛樹，木住野達也，吉浦孝一郎
  • Organizer: 日本人類遺伝学会第63回大会
• [Presentation] 新規LIG4遺伝子変異を導入したLIG4症候群モデルマウス (2018)
  • Author(s): 山下友佑，田村志宣，福田有里，小笹俊哉，金澤伸雄，邊見弘明，吉浦孝一郎改正恒康，園木孝志
  • Organizer: 第80回日本血液学会学術集会
• [Presentation] DNAからみた人の進化 (2018)
  • Author(s): 吉浦孝一郎
  • Organizer: 第72回日本人類学会大会
  • Invited
• [Presentation] 次世代シーケンサーを用いた近距離被ばく者世代間での新規突然変異検出 (2018)
  • Author(s): 蓬莱真喜子，三嶋博之，林田知佐，木下 晃，中根充文，松尾辰樹，鶴田一人，柳原克紀，佐藤信也，今西大介，今泉芳孝，波多智子，宮﨑泰司，吉浦孝一郎
  • Organizer: 日本放射線影響学会 第61回大会
• [Presentation] Analysis of mice varying a novel mutation in a proteasome subunit gene identified in an autoinflammatory disease -Proteasome-associated autoinflammation and immunodeficiency disease (PRAID) (2018)
  • Author(s): Toshiya Ozasa, Hiroaki Hemmi, Akira Kinoshita, Takashi Kato, Takashi Orimo, Izumi Sasaki, Yuri Fukuda-Ohta, Noriko Kinjo, Koh-Ichiro Yoshiura, Tsunehiro Mizushima, Nobuo Kanazawa, Tsuneyasu Kaisho.
  • Organizer: 第47回日本免疫学会学術集会
• [Presentation] Impaired development of dendritic cells in proteasome subunit mutant mice． (2018)
  • Author(s): Hiroaki Hemmi, Toshiya Ozasa, Akira Kinoshita, Takashi Kato, Takashi Orimo, Izumi Sasaki, Yuri Fukuda-Ohta, Noriko Kinjo, Koh-Ichiro Yoshiura, Tsunehiro Mizushima, Nobuo Kanazawa, Tsuneyasu Kaisho.
  • Organizer: 第47回日本免疫学会学術集会
• [Presentation] Next-generation sequencing targeting disease-associated candidate genes unveils novel missense mutations for long QT syndrome in Japanese patients. (2018)
  • Author(s): Ryo Watanabe, Naomasa Makita, Koh-ichiro Yoshiura, Toshihiro Tanaka for Japanese LQTS Deep Sequencing Consortium.
  • Organizer: 第1回日本循環器学会基礎研究フォーラム
• [Presentation] 顕著な睡眠障害，発達障害を有するCREBBP遺伝子のエクソン31の新規突然変異例． (2018)
  • Author(s): 福井香織，渡邊順子，吉浦孝一郎．
  • Organizer: 第40回日本小児遺伝学会学術集会
• [Presentation] Evans症候群および低ガンマグロブリン血症を発症した歌舞伎症候群の一例． (2018)
  • Author(s): 蒸野寿紀，南 弘一，鈴木啓之，森尾友宏，今井耕輔，三嶋博之，吉浦孝一郎，田村志宣，山下友佑，園木 孝志．
  • Organizer: 第1回日本免疫不全・自己炎症学会総会・学術集会
• [Presentation] Novel transcript of IPTR1 contributes to the development of anterior eye segment. (2018)
  • Author(s): Kinoshita A., Mishima H., Saitoh S., Yoshiura K.
  • Organizer: The 2nd International Symposium of the Network-type Joint Usage/Research Center for Radiation Disaster Medical Science,
  • Int'l Joint Research
• [Presentation] Identification of novel long QT syndrome-associated mutations by targeted sequencing analyses. (2017)
  • Author(s): Watanabe R., Ohno S., Aiba T., Ishikawa T., Nakano Y., Mishima H., Minamino N., Makiyama T., Tanaka Y., Murata H., Hayashi M., Iwasaki Y., Watanabe A., Tachibana M., Morita H., Miyamoto Y., Yoshiura K., Tsunoda T., Watanabe H., Kurabayashi M., Nogami A., Kihara Y., Makita N., Shimizu W., Horie M., Tanaka T.
  • Organizer: European Human Genetics Conference
  • Int'l Joint Research
• [Presentation] De novo gain-of-function mutations in the epigenetic regulator SMCHD1 cause Bosma arhinia microphthalmia syndrome. (2017)
  • Author(s): Gordon C. T., Xue S., Yigit G., Filali H., Chen K., Rosin N., Yoshiura K., Oufadem M., Beck T., Dion C., Sefiani A., Kayserili H., Murphy J., Chatdokmaiprai C., Hillmer A., Wattanasirichaigoon D., Lyonnet S., Magdinier F., Javed A., Blewitt M., Amiel J., Wollnik B., Reversade B.
  • Organizer: European Human Genetics Conference
  • Int'l Joint Research
• [Presentation] A case of epileptic encephalopathy combined with various involuntary movement, sever psychomotor retardation with KCNA2 gene mutation. (2017)
  • Author(s): 里龍晴，原口康平，森山薫，渡辺聡，神村直久，吉浦孝一郎，森内浩幸．
  • Organizer: 第59回日本小児神経学会学術集会
• [Presentation] 全エクソーム解析で判明したosteogenesis imperfectaの１例． (2017)
  • Author(s): 三春範夫，吉浦孝一郎，佐々木晃，正路貴代．
  • Organizer: 第２4回遺伝性疾患に関する出生前診断研究会
• [Presentation] A Heterozygous FLNB Mutation in a Japanese Boy with Spondylocarpotarsal Synostosis Syndrome and his Mother with Short Stature. (2017)
  • Author(s): Hitomi Shimizu, Satoshi Watanabe, Hiroyuki Moriuchi, Koh-ichiro Yoshiura, Sumito Dateki.
  • Organizer: 10th International Joint Meeting of Pediatric Endocrinology
  • Int'l Joint Research
• [Presentation] 低身長を契機に診断に至ったSpondylocarpotarsal synostosisの1幼児例． (2017)
  • Author(s): 清水日智，渡辺聡，中富明子，吉浦孝一郎，森内浩幸，伊達木澄人．
  • Organizer: 第51回日本小児内分泌学会学術集会
• [Presentation] Identification of I287S homozygous mutation in the MLX gene in an infant with non-alcoholic steatohepatitis: A case report. (2017)
  • Author(s): Yoriko Watanabe, Satoshi Watanabe, Chisei Sato, Sachiko Ogasawara, Jun Akiba, Masayoshi Kage, Hirohisa Yano, Kaori Fukui, Tatsuki Mizuochi, Shoji Yano, Kiyoshi Hayasaka, Yushiro Yamashita, Takumi Kawaguchi, Takuji Torimura, Koh-ichiro Yoshiura.
  • Organizer: American Society of Human Genetics Annual Meeting 2017
  • Int'l Joint Research
• [Presentation] BCORナンセンス変異にもとづくOFCD症候群の一例． (2017)
  • Author(s): 鳥尾倫子，古賀のりこ，赤峰哲，吉浦孝一郎，酒井康成，大賀正一．
  • Organizer: 日本人類遺伝学会 第62回大会
• [Presentation] De novo mutations in the C-terminal region of ITPR1 cause aniridia, cerebellar ataxia and intellectual disability, Gillespie syndrome. (2017)
  • Author(s): Shinji Saitoh, Akira Kinoshita, Kana Hosoki, Hiroyuki Mishima, Kiyotaka Tomiwa, Naoko Ishihara, Yutaka Negishi, Naoko Asahina, Hideaki Shiraishi, Koh-ichiro Yoshiura.
  • Organizer: 日本人類遺伝学会 第62回大会
• [Presentation] Targeted deep sequencing reveals novel mutations in Japanese long QT syndrome patients. (2017)
  • Author(s): Watanabe R, Ohno S, Aiba T, Ishikawa T, Nakano Y, Mishima H, Sudo T, Higuchi C, Minamino N, Makiyama T, Tanaka Y, Murata H, Hayashi M, Iwasaki Y, Watanabe A, Tachibana M, Morita H, Miyamoto Y, Yoshiura K, sunoda T, Watanabe H, Kurabayashi M, Nogami A, Kihara Y, Makita N, Shimuzu W, Horie M, Tanaka T.
  • Organizer: 日本人類遺伝学会 第62回大会
• [Presentation] A case suspected of mitochondrial complex III deficiency carrying BCS1L mutation presented with Fanconi syndrome． (2017)
  • Author(s): Kanako Ishii, Vlad Tocan, Noriko Oyama, Naoko Toda, Kazuhiro Okubo, Yoshito Ishizaki, Koh-ichiro Yoshiura, Shouichi Ohga.
  • Organizer: 日本人類遺伝学会 第62回大会
• [Presentation] Identification of I285S homozygous mutation on the MLX gene in an infant with non-alcoholic steatohepatitis． (2017)
  • Author(s): Yoriko Watanabe, Satoshi Watanabe, Chisei Satoh, Sachiko Ogasawara, Jun Akiba, Masayoshi Kage, Hirohisa Yano, Kaori Fukui, Tatsuki Mizuochi, Shoji Yano, Kiyoshi Hayasaka, Yushiro Yamashita, Takumi Kawaguchi, Takuji Torimura, Koh-ichiro Yoshiura.
  • Organizer: 日本人類遺伝学会 第62回大会
• [Presentation] Genetic and clinical analyses in Japanese Patients with Sitosterolemia. (2017)
  • Author(s): Hitomi Shimizu, Hideki Motomura, Satoshi Watanabe, Hiroyuki Mishima, Hiroyuki Moriuchi, Koh-ichiro Yoshiura, Sumito Dateki.
  • Organizer: 日本人類遺伝学会 第62回大会
• [Presentation] Gene-based rare variants association test implicates PLA2G4E as a risk gene for panic disorder. (2017)
  • Author(s): Yoshiro Morimoto, Shintaro Yoshida, Akira Kinoshita, Hiroyuki Mishima, Naohiro Yamaguchi, Akira Imamura, Naohiro Kurotaki, Hiroki Ozawa, Koh-ichiro Yoshiura, Shinji Ono.
  • Organizer: 日本人類遺伝学会 第62回大会
• [Presentation] MicroRNA-204-3p inhibits TLR4-related cytokines in family Mediterranean fever by targeting the PI3K signaling. (2017)
  • Author(s): Tomohiro Koga, Kiyoshi Migita, Shuntaro Sato, Kiyonori Miura, Hideki Masuzaki, Koh-ichiro Yoshiura, Atsushi Kawakami.
  • Organizer: 日本人類遺伝学会 第62回大会
• [Presentation] Novel transcript of ITPR1 contributes to the development of anterior eye segment. (2017)
  • Author(s): Akira Kinoshita, Kaname Ohyama, Susumu Tanimura, Katsuya Matsuda, Miroyuki Mishima, Masahiro Nakajima, Shinji Saitoh, Koh-ichiro Yoshiura.
  • Organizer: 日本人類遺伝学会 第62回大会
• [Presentation] 胆道閉鎖症I cyst型を合併した歌舞伎症候群の1例． (2017)
  • Author(s): 石原 潤，水落建輝，高木祐吾，江田慶輔，進藤亮太，弓削康太郎，福井香織，渡邊順子，橋詰直樹，石井信二，深堀 優，浅桐公男，八木 実，吉浦孝一郎．
  • Organizer: 第44回日本胆道閉鎖症研究会
• [Presentation] 脂肪萎縮性糖尿病に先天性難聴を合併し、PIK3R1遺伝子に新生突然変異を認めSHORT症候群と診断した一例． (2017)
  • Author(s): 大久保一宏，石井加奈子，大山紀子，トカン ヴラッド，戸田尚子，海老原 健，吉浦孝一郎，井原健二，大賀正一．
  • Organizer: 第51回日本小児内分泌学会
• [Presentation] PIK3R1遺伝子に新生突然変異を認めSHORT症候群と診断した脂肪萎縮性糖尿病の一例． (2017)
  • Author(s): 大久保一宏，石井加奈子，大山紀子，トカン ヴラッド，戸田尚子，海老原健，吉浦孝一郎、井原健二，大賀正一．
  • Organizer: 第27回臨床内分泌代謝Update
• [Presentation] Evaluation of genome-eide association study-identified SNPs at 4q12, 17q12, and 6p21.32 with cervical cancer susceptibility in a Japanese population. (2016)
  • Author(s): Kiyonori Miura, Hiroyuki Mishima, Shuhei Abe, Yuko Murakami, Naoki Fuchi, Ai Higashijima, Yuri Hasegawa, Shoko Miura, Masako Masuzaki, Masanori Kaneuchi, Koh-ichiro Yoshiura, Hideaki Masuzaki.
  • Organizer: The international Congress of Human Genetics (ICHG2016)
  • Place of Presentation: Kyoto International Conference Center, Japan. （京都府，京都市）
  • Year and Date: 2016-04-03
  • Int'l Joint Research
• [Presentation] Bio-Virtuso: A package of Docker containers for multiple source data retrieval, RDF conversion, and triplestore deployment in a simplified manner. (2016)
  • Author(s): Hiroyuki Mishima, Koh-ichiro Yoshiura.
  • Organizer: The international Congress of Human Genetics (ICHG2016)
  • Place of Presentation: Kyoto International Conference Center, Japan.（京都府，京都市）
  • Year and Date: 2016-04-03
  • Int'l Joint Research
• [Presentation] Mutaions in the patients with Nakajo Nishimura Syndrome-like autoinflammatory diseases. (2016)
  • Author(s): Akira Kinoshita, Nobuo Kanazawa, Noriko Kinjo, Hiroyuki Mishima, Koh-ichiro Yoshiura.
  • Organizer: The international Congress of Human Genetics (ICHG2016)
  • Place of Presentation: Kyoto International Conference Center, Japan.（京都府，京都市）
  • Year and Date: 2016-04-03
  • Int'l Joint Research
• [Presentation] Aberrant methylation at imprinted DMRs is associated with placental mesenchymal dysplasia. (2016)
  • Author(s): Saori Aoki, Ken Higashimoto, Hidenori Hidaka, Hidetaka Watanabe, Yasufumi Ohtauka, Mishima Hiroyuki, Koh-ichiro Yoshiura, Hitomi Yatsuki, Kenichi Nishioka, Keiichiro Joh, Takashi Ohba, Hidetaka Katabuchi, Hidenobu Soejima.
  • Organizer: The international Congress of Human Genetics (ICHG2016)
  • Place of Presentation: Kyoto International Conference Center, Japan.（京都府，京都市）
  • Year and Date: 2016-04-03
  • Int'l Joint Research
• [Presentation] Circulation levels of C19Mc-cluster microRNAs in pregnant women with abruptio placenta. (2016)
  • Author(s): Yuri Hasegawa, Kiyonori Miura, Ai Higashijima, Yuko Murakami, Ozora Tsukamoto, Shuhei Abe, Naoki Fuchi, Shoko Miura, Atsushi Yoshida, Hiroyuki Mishima, Akira Kinoshita, Koh-ichiro Yoshiura, Hideaki Masuzaki.
  • Organizer: The international Congress of Human Genetics (ICHG2016)
  • Place of Presentation: Kyoto International Conference Center, Japan.（京都府，京都市）
  • Year and Date: 2016-04-03
  • Int'l Joint Research
• [Presentation] Normal ranges of plasma concentrations of pregnancy-associated microRNAs during pregnancy. (2016)
  • Author(s): Yuko Murakami, Kiyonori Miura, Ai Higashijima, Naoki Fuchi, Shuhei Abe, Yuri Hasegawa, Atsushi Yoshida, Masanori Kaneuchi, Yuko Murakami, Ozora Tsukamoto, Shoko Miura, Hiroyuki Mishima, Akira Kinoshita, Koh-ichiro Yoshiura, Hideaki Masuzaki.
  • Organizer: The international Congress of Human Genetics (ICHG2016)
  • Place of Presentation: Kyoto International Conference Center, Japan.（京都府，京都市）
  • Year and Date: 2016-04-03
  • Int'l Joint Research
• [Presentation] 長崎大学における Initiative on Rare and Undiagnosed Disease in Pediatrics (IRUD-P)解析についての報告． (2016)
  • Author(s): 吉浦孝一郎，木下 晃，三嶋博之，林田知佐，近藤達郎，渡邊順子，伊達木澄人，要 匡，松原洋一
  • Organizer: 1.第一回放射線災害・医科学研究拠点カンファランス
  • Place of Presentation: 長崎大学良順会館専斎ホール（長崎県，長崎市）
• [Presentation] IRUD-P 解析プログラムで判明したFG症候群を疑われた家族発症例の原因変異． (2016)
  • Author(s): 前川隆太，佐藤智生，吉浦孝一郎，近藤達郎
  • Organizer: 2.第二十三回遺伝性疾患に関する出生前診断研究会
  • Place of Presentation: 長崎大学良順会館ボードインホール（長崎県，長崎市）
• [Book] 遺伝子医学 (2019)
  • Author(s): 吉浦孝一郎，吉田輝彦，近藤直人，西原広史，武藤 学，田澤義明，島田能史，若井俊文，大熊ひとみ，米盛 勧，山本寛斉，豊岡伸一，小杉眞司，高橋研太，池田貞勝，目黒牧子，川本祥子，井ノ上逸郎，矢部一郎，関島良樹，三宅紀子，江口真希，原田直樹，涌井敬子，秋山奈々，鶴岡智子，西垣昌和，中林一彦，山田教弘，鎌谷洋一郎，柴田有花
  • Total Pages: 166
  • Publisher: メディカルドゥ
  • ISBN: 9784944157297