YOSHIURA Koh-ichiro

J-GLOBAL         Last updated: Jun 11, 2019 at 18:56
 
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Name
YOSHIURA Koh-ichiro
Affiliation
Nagasaki University
Section
Graduate School of Biomedical Sciences Atomic Bomb Disease Institute
Job title
Associate Prefessor
Degree
(BLANK)(Nagasaki University), (BLANK)(Nagasaki University), (BLANK)

Research Areas

 
 

Academic & Professional Experience

 
Apr 1990
 - 
Mar 1994
Graduate Scool of Medicine, Nagasaki Univesity
 
1994
 - 
1998
Research Associate, Deportment of Pediatrics, The Univ. of Iowa
 
1998
   
 
- Assistant Professor, Deportment of Human Genetics, Nagasaki Unive. School of Medicine
 
2003
   
 
- Associate Professor, Deportment of Human Genetics, Nagasaki Unive. Graduate School of Biomedical Sciences
 

Committee Memberships

 
2005
   
 
Japanese Society of Human Genetics  councilor
 

Awards & Honors

 
2001
Japan Society of Human Genetics, Encouraging prize
 

Published Papers

 
Yamashita Y, Nishikawa A, Iwahashi Y, Fujimoto M, Sasaki I, Mishima H, Kinoshita A, Hemmi H, Kanazawa N, Ohshima K, Imadome KI, Murata SI, Yoshiura KI, Kaisho T, Sonoki T, Tamura S.
Int J Hematol   109(6) 744-750   May 2019   [Refereed]
Morimoto Y, Yoshida S, Kinoshita A, Satoh C, Mishima H, Yamaguchi N, Matsuda K, Sakaguchi M, Tanaka T, Komohara Y, Imamura A, Ozawa H, Nakashima M, Kurotaki N, Kishino T, Yoshiura KI, Ono S.
Neurology   92(20) e2364-e2374   May 2019   [Refereed]
Shimizu H, Watanabe S, Kinoshita A, Mishima H, Nishimura G, Moriuchi H, Yoshiura KI, Dateki S.
J Hum Genet.   64(5) 467-471   May 2019   [Refereed]
Dateki S, Watanabe S, Mishima H, Shirakawa T, Morikawa M, Kinoshita E, Yoshiura KI, Moriuchi H.
J Hum Genet   64(4) 341-346   Apr 2019   [Refereed]
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.
Clin Epigenetics   10(1) 150-150   Dec 2018   [Refereed]
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.
Am J Med Genet A.   176(12) 2614-2622   Dec 2018   [Refereed]
Kiyota K, Yoshiura KI, Houbara R, Miyahara H, Korematsu S, Ihara K
European journal of medical genetics   61(10) 631-633   Oct 2018   [Refereed]
Sato S, Itonaga H, Taguchi M, Sawayama Y, Imanishi D, Tsushima H, Hata T, Moriuchi Y, Mishima H, Kinoshita A, Yoshiura KI, Miyazaki Y
International journal of hematology   108(2) 213-217   Aug 2018   [Refereed]
Kitajima M, Miura K, Inoue T, Murakami Y, Kitajima Y, Murakami N, Taniguchi K, Yoshiura K, Masuzaki H.
Gynecol Endocrinol   34(5) 381-384   May 2018   [Refereed]
Shirakawa T, Nakashima Y, Watanabe S, Harada S, Kinoshita M, Kihara T, Hamasaki Y, Shishido S, Yoshiura KI, Moriuchi H, Dateki S
CEN case reports   7(1) 94-97   May 2018   [Refereed]
Murakami Y, Miura K, Sato S, Higashijima A, Hasegawa Y, Miura S, Yoshiura KI, Masuzaki H
The journal of obstetrics and gynaecology research   44(5) 840-851   May 2018   [Refereed]
Koga T, Migita K, Sato T, Sato S, Umeda M, Nonaka F, Fukui S, Kawashiri SY, Iwamoto N, Ichinose K, Tamai M, Nakamura H, Origuchi T, Ueki Y, Masumoto J, Agematsu K, Yachie A, Yoshiura KI, Eguchi K, Kawakami A
Rheumatology (Oxford, England)   57(4) 718-726   Apr 2018   [Refereed]
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 of human genetics   63(3) 357-363   Mar 2018   [Refereed]
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 of human genetics   63(3) 387-390   Mar 2018   [Refereed]
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
British journal of haematology   180(3) 381-390   Feb 2018   [Refereed]
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
Translational psychiatry   8(1) 41   Feb 2018   [Refereed]
Dateki S, Kitajima T, Kihara T, Watanabe S, Yoshiura KI, Moriuchi H
Human genome variation   5 18014   2018   [Refereed]
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 of human genetics   62(11) 989-995   Nov 2017   [Refereed]
Satoh C, Maekawa R, Kinoshita A, Mishima H, Doi M, Miyazaki M, Fukuda M, Takahashi H, Kondoh T, Yoshiura K-i.
Human Genome Variation   4 17045   Nov 2017   [Refereed]
A Novel Association between the 27-bp Deletion and 538G>A Mutation in the ABCC11 Gene.
Hori YS, Yamada A, Matsuda N, Ono Y, Starenki D, Sosonkina N, Yoshiura KI, Niikawa N, Ohta T
Human biology   89(4) 305-307   Oct 2017   [Refereed]
Miura K, Kurabayashi T, Satoh C, Sasaki K, Ishiguro T, Yoshiura KI, Masuzaki H
Journal of human genetics   62(9) 803-808   Sep 2017   [Refereed]
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
Arthritis research & therapy   19(1) 199   Sep 2017   [Refereed]
Dateki S, Nakatomi A, Watanabe S, Shimizu H, Inoue Y, Baba H, Yoshiura KI, Moriuchi H
Journal of human genetics   62(7) 717-721   Jul 2017   [Refereed]
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 of the American College of Cardiology   70(3) 358-370   Jul 2017   [Refereed]
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
The Journal of dermatology   44(6) 644-650   Jun 2017   [Refereed]
Ishikawa T, Ohno S, Murakami T, Yoshida K, Mishima H, Fukuoka T, Kimoto H, Sakamoto R, Ohkusa T, Aiba T, Nogami A, Sumitomo N, Shimizu W, Yoshiura KI, Horigome H, Horie M, Makita N
Heart rhythm   14(5) 717-724   May 2017   [Refereed]
Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, 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
Nature genetics   49(6) 969   May 2017   [Refereed]
Nikitski AV, Rogounovitch TI, Bychkov A, Takahashi M, Yoshiura KI, Mitsutake N, Kawaguchi T, Matsuse M, Drozd VM, Demidchik Y, Nishihara E, Hirokawa M, Miyauchi A, Rubanovich AV, Matsuda F, Yamashita S, Saenko VA
Thyroid : official journal of the American Thyroid Association   27(2) 224-235   Feb 2017   [Refereed]
Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, 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
Nature genetics   49(2) 238-248   Feb 2017   [Refereed]
Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura KI, Oufadem M, Beck TJ, McGowan R, Magee AC, Altmüller J, Dion C, Thiele H, Gurzau AD, Nürnberg P, Meschede D, Mühlbauer W, Okamoto N, Varghese V, Irving R, Sigaudy S, Williams D, Ahmed SF, Bonnard C, Kong MK, Ratbi I, Fejjal N, Fikri M, Elalaoui SC, Reigstad H, Bole-Feysot C, Nitschké P, Ragge N, Lévy N, Tunçbilek G, Teo AS, 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
Nature genetics   49(2) 249-255   Feb 2017   [Refereed]
Dateki S, Watanabe S, Kinoshita F, Yoshiura KI, Moriuchi H
American journal of medical genetics. Part A   173(1) 217-220   Jan 2017   [Refereed]
Nishitani S, Ikematsu K, Takamura T, Honda S, Yoshiura KI, Shinohara K
Hormones and behavior   87 47-56   Jan 2017   [Refereed]
Morimoto Y, Ono S, Imamura A, Okazaki Y, Kinoshita A, Mishima H, Nakane H, Ozawa H, Yoshiura KI, Kurotaki N
Human genome variation   4 17032   2017   [Refereed]
Otsuki Y, Ueda K, Satoh C, Maekawa R, Yoshiura KI, Iseki S
Plastic and reconstructive surgery. Global open   4(12) e1185   Dec 2016   [Refereed]
Matsuda K, Tateishi S, Akazawa Y, Kinoshita A, Yoshida S, Morisaki S, Fukushima A, Matsuwaki T, Yoshiura KI, Nakashima M
Diagnostic pathology   11(1) 101   Oct 2016   [Refereed]
Konomoto T, Imamura H, Orita M, Tanaka E, Moritake H, Sato Y, Fujimoto S, Harita Y, Hisano S, Yoshiura K, Nunoi H
Nephrology (Carlton, Vic.)   21(9) 765-773   Sep 2016   [Refereed]
Miura K, Mishima H, Yasunami M, Kaneuchi M, Kitajima M, Abe S, Higashijima A, Fuchi N, Miura S, Yoshiura K, Masuzaki H
Journal of human genetics   61(9) 793-796   Sep 2016   [Refereed]
Wada H, Matsuda K, Akazawa Y, Yamaguchi Y, Miura S, Ueki N, Kinoshita A, Yoshiura K, Kondo H, Ito M, Nagayasu T, Nakashima M
Endocrine pathology   27(3) 179-187   Sep 2016   [Refereed]
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
Arthritis research & therapy   18 175   Jul 2016   [Refereed]
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, Amantayev B, Kondo H, Ito M, Nakashima M
Endocrine journal   63(5) 457-467   May 2016   [Refereed]
Dateki S, Watanabe S, Nakatomi A, Kinoshita E, Matsumoto T, Yoshiura K, Moriuchi H
Pediatrics international : official journal of the Japan Pediatric Society   58(5) 431-433   May 2016   [Refereed]
2. Uchiyama Y, Nakashima M, Watanabe S, Miyajima M, Taguri M, Miyatake S, Miyake N, Saitsu H, Mishima H, Kinoshita A, Arai H, Yoshiura K, Matsumoto N.
Sci Rep   9(6) 22985-22985   Apr 2016   [Refereed]
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
American journal of medical genetics. Part A   170A(4) 908-917   Apr 2016   [Refereed]
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
Medicine   95(16) e3449   Apr 2016   [Refereed]
Hasegawa Y, Miura K, Higashijima A, Abe S, Miura S, Yoshiura K, Masuzaki H
Reproductive sciences (Thousand Oaks, Calif.)   22(12) 1569-1576   Dec 2015   [Refereed]
Yamamoto T, Mishima H, Mizukami H, Fukahori Y, Umehara T, Murase T, Kobayashi M, Mori S, Nagai T, Fukunaga T, Yamaguchi S, Yoshiura KI, Ikematsu K
Molecular genetics and metabolism reports   5 26-32   Dec 2015   [Refereed]
Tamura S, Higuchi K, Tamaki M, Inoue C, Awazawa R, Mitsuki N, Nakazawa Y, Mishima H, Takahashi K, Kondo O, Imai K, Morio T, Ohara O, Ogi T, Furukawa F, Inoue M, Yoshiura K, Kanazawa N
Clinical immunology (Orlando, Fla.)   160(2) 255-260   Oct 2015   [Refereed]
Tomoshige K, Matsumoto K, Tsuchiya T, Oikawa M, Miyazaki T, Yamasaki N, Mishima H, Kinoshita A, Kubo T, Fukushima K, Yoshiura K, Nagayasu T
Journal of human genetics   60(10) 597-603   Oct 2015   [Refereed]
Ohtsuka Y, Higashimoto K, Sasaki K, Jozaki K, Yoshinaga H, Okamoto N, Takama Y, Kubota A, Nakayama M, Yatsuki H, Nishioka K, Joh K, Mukai T, Yoshiura KI, Soejima H.
Clin Genet.   88(3) 261-266   Sep 2015   [Refereed]
Oikawa M, Yano H, Matsumoto M, Otsubo R, Shibata K, Hayashi T, Abe K, Kinoshita N, Yoshiura K, Nagayasu T
Breast cancer (Tokyo, Japan)   22(5) 529-535   Sep 2015   [Refereed]

Misc

 
Kanazawa N, Arima K, Ida H, Yoshiura K, Furukawa F
Nihon Rinsho Men'eki Gakkai kaishi = Japanese journal of clinical immunology   34(5) 388-400   2011   [Refereed]
[Monogenic inheritance disorder].
Yoshiura K
Nihon rinsho. Japanese journal of clinical medicine   68 Suppl 8 7-12   Aug 2010   [Refereed]
[Positional cloning of disease gene].
Yoshiura K, Niikawa N
Nihon rinsho. Japanese journal of clinical medicine   63 Suppl 12 421-426   Dec 2005   [Refereed]
Genomic structure, sequence, and mapping of human FGF8, with exclusion of its role in craniosynostosis/limb defect syndrome. (共著)
American Journal of Medical Genetics   45 425-428   1997

Books etc

 
Genetics and Genomics in Medicine
YOSHIURA Koh-ichiro (Part:Joint Translation)
Mar 2016   
Color Atlas of Genetics
NIIKWA Norio/ YOSHIURA Koh-ichiro (Part:Joint Translation)
Mar 2009   

Conference Activities & Talks

 
Impaired development of dendritic cells in proteasome subunit mutant mice.
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.
10 Dec 2018   
A case of neonatal-onset proteasome-associated autoinflammatory syndrome resembling but distinct from Nakajo-Nishimura syndrome.
Noriko Kinjo, Hiroyuki Mishima, Akira Kinoshita, Koh-Ichiro Yoshiura, Tsunehiro Mizushima, Jun Hamazaki, Shigeo Murata, Nobuo Kanazawa.
10 Dec 2018   
Analysis of mice varying a novel mutation in a proteasome subunit gene identified in an autoinflammatory disease -Proteasome-associated autoinflammation and immunodeficiency disease (PRAID).
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.
10 Dec 2018   
Evaluation of copy-number variation detection techniques using shallo-depth whole genome sequencing
Mishima H., Yoshiura K-i.
THe 63rd Meeting of Japanese Society of Human Genetics   10 Oct 2018   
Novel transcript of IPTR1 contributes to the development of anterior eye segment.
Kinoshita A., Mishima H., Saitoh S., Yoshiura K.
The 2nd International Symposium of the Network-type Joint Usage/Research Center for Radiation Disaster Medical Science   3 Feb 2018   
2018. Frb 3-4
Identification of I287S homozygous mutation in the MLX gene in an infant with non-alcoholic steatohepatitis: A case report.
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.
American Society of Human Genetics Annual Meeting 2017   17 Oct 2017   
2017. Oct 17-21
A Heterozygous FLNB Mutation in a Japanese Boy with Spondylocarpotarsal Synostosis Syndrome and his Mother with Short Stature.
Hitomi Shimizu, Satoshi Watanabe, Hiroyuki Moriuchi, Koh-ichiro Yoshiura, Sumito Dateki.
10th International Joint Meeting of Pediatric Endocrinology   14 Sep 2017   
2017. Sep.p 14-17
De novo gain-of-function mutations in the epigenetic regulator SMCHD1 cause Bosma arhinia microphthalmia syndrome.
Gordon CT, Xue S, Yigit G, Filali1 H, Chen K, Rosin N, Yoshiura K, Oufadem1 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.
European Human Genetics Conference   27 May 2017   
2017. May 27-30
Identification of novel long QT syndrome-associated mutations by targeted sequencing analyses.
Watanabe R., Ohno S., Aiba T., Ishikawa T., Nakano Y., Aizawa Y., Hayashi K., Murakoshi N., Nakajima T., Yagihara N., Shigemizu D., Mishima H., Sudo T., Higuchi C., Takahashi A., Sekine A., 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.
European Human Genetics Conference   27 May 2017   
2017. May 27-30
Normal ranges of plasma concentrations of pregnancy-associated microRNAs during pregnancy.
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.
The international Congress of Human Genetics (ICHG2016)   3 Apr 2016   
2016. Apr 03-07
Circulation levels of C19Mc-cluster microRNAs in pregnant women with abruptio placenta.
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.
The international Congress of Human Genetics (ICHG2016)   3 Apr 2016   
2016. Apr 03-07
Aberrant methylation at imprinted DMRs is associated with placental mesenchymal dysplasia.
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.
The international Congress of Human Genetics (ICHG2016)   3 Apr 2016   
2016. Apr 03-07
Mutaions in the patients with Nakajo Nishimura Syndrome-like autoinflammatory diseases.
Akira Kinoshita, Nobuo Kanazawa, Noriko Kinjo, Hiroyuki Mishima, Koh-ichiro Yoshiura.
The international Congress of Human Genetics (ICHG2016)   3 Apr 2016   
2016. Apr 03-07
Bio-Virtuso: A package of Docker containers for multiple source data retrieval, RDF conversion, and triplestore deployment in a simplified manner.
Hiroyuki Mishima, Koh-ichiro Yoshiura.
The international Congress of Human Genetics (ICHG2016)   3 Apr 2016   
2016. Apr 03-07
Evaluation of genome-wide association study-identified SNPs at 4q12, 17q12, and 6p21.32 with cervical cancer susceptibility in a Japanese population.
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.
The international Congress of Human Genetics (ICHG2016)   3 Apr 2016   
2016. Apr 03-07
An infantile case of hepatomegaly, lactic acidosis, hypoglycemia, ketosis, and hyperlipidemia of unknown etiology.
Watanabe Y, Seki Y, Yanagi T, Mizouchi T, Takeuchi T, Iwamoto J, YoshinoM, Watanabe S, Inokuchi T, Yano S, Yoshiura K, Matsuishi T.
American Society of Human Genetics, 63rd Annual Meeting   22 Oct 2013   
2013. Oct 22-26
Biogem, Ruby UCSC API, and Bioruby.
Hiroyuki Mishima, Raoul J.P. Bonnal, Naohisa Goto, Francesco Strozzi, Toshiaki Katayama, Pjotr Prins
20th Annual International Conference on Intelligent Systems for Molecular Biology   15 Jul 2012   
2012. Jul 15-17
Biogem, Ruby UCSC API, and Bioruby.
Hiroyuki Mishima, Raoul J.P. Bonnal, Naohisa Goto, Francesco Strozzi, Toshiaki Katayama, Pjotr Prins
The 13th Annual Bioinformatics Open Source Conference   13 Jul 2012   
2012. Jul 13-14
A mutation detected by exome sequencing and phenotypic variability in a family with Lenz microphthalmia syndrome.
Tadashi Kaname, Kumiko Yanagi, Yukako Muramatsu, Takaya Tohma, Hiroaki Hanafusa, Konomi Morita, Shinya Ikematsu, Yusuke Itagaki, Hiroko Taniai, Kenji Kurosawa, Seiji Mizuno, Koichiro Yoshiura, Kenji Naritomi.
EUROPEAN Human Genetics CONFERENCE 2012   26 Mar 2012   
2012. Jun 23-26
Detection of a mutation in Lents micropthalmia family by exome sequencing.
T. Kaname, K. Yanagi, Y. Muramatsu, T. Tohma, H. Hanafusa, K. Morita, S. Ikematsu, Y. Itagaki, S. Mizuno, K. Yoshiura, K. Naritomi.
12th International Congress of Human Genetics and The American Society of Human Genetics, 61st Annual Meeting,   11 Oct 2011   
2011. Oct 11-15
Identification of novel schizophrenia loci by homozygosity mapping using DNA microarrayanalysos.
N. Kurotaki, H. Mishima, S. Ono, A. Imamura, S. Tasaki, T. Kikuchi, N. Nishida, K. Tokunaga, K. Yoshiura, H. Ozawa.
12th International Congress of Human Genetics and The American Society of Human Genetics, 61st Annual Meeting,   11 Oct 2011   
2011. Oct 11-15
Re-sequencing analysis of candidate region for a neurodegenerative disorder by massively parallel sequencing.
T. Kaname, A. Tsujino, K. Yanagi, K. Hayashi, M. Tsukahara, K. Fujimori, I. Kikuzato, M. Teruya, Y. Imada, M. Nezuo, S. Yano, Y. Sato, Y. Miwa, T. Niikawa, K. Yoshiura, K. Naritomi
The American Society of Human Genetics, 59th Annual Meeting   2 Nov 2010   
2010 Nov 2-6
Frequency of 27-bp deletion mutation, another earwax determinant, in ABCC11 among the Japanese population.
A. Yamada, Y. Hori, Y. Ono, N. Matsuda, D. Starenki, N. Sosonkina, K. Yoshiura, T. Ohta, N. Niikawa
The American Society of Human Genetics, 59th Annual Meeting   2 Nov 2010   
2010 Nov 2-6
A case of mesenchymal diaplasia.
Miura K, Yamasaki K, Miura S, Nakayama D, Yoshiura K, Nakayama M, Masuzaki H
20th ISUOG World Congress   10 Oct 2010   
2010., Oct 10-14
Resequencing of the whole candidate region for 16q22-linked spinocerebellar ataxia in Japanese individuals using next-generation sequencing.
Kaname T, Tsukahara M, Yanagi K, Fujimori K, Kikuzato I, Teruya M, Imada Y, Nezuo M, Yabo S, Sato Y, Miwa Y, Hirano T, Hirano R, Takashima H, Yoshiura K, Niikawa N, Naritomi K.
The American Society of Human Genetics, 59th Annual Meeting   20 Oct 2009   
2009. Oct 20-27
Brain arteriovenous malformation maps to 5p13-q14, 15q11-q13 and 18p11: Linkage analysis with clipped fingernail DNA on SNP array.
Kuniba H, Oikawa M, Kondoh T, Kinoshita A, Moriuchi H, Nagayasu T, Niikawa N, Yoshiura K.
The American Society of Human Genetics, 59th Annual Meeting   20 Oct 2009   
2009. Oct 20-27
Microarray-based analysis using cell-free mRNA inpregnant women has a potential to estimate a placental status.
Miura K, Miura S, Yamasaki K, Shimada T, Higashijima A, Abe S, Yoshiura K, Niikawa N, Masuzaki H.
The American Society of Human Genetics, 59th Annual Meeting   20 Oct 2009   
2009. Oct 20-27
DNA array-based copy number analysis in chorionic cillus samples (CVS) of spontaneous abortions with normal karyotypes.
Yamada T, Ohra T, Hosoki K, Shimada S, Morikawa M, Yamada T, Yoshiura K, Minakami H, Niikawa N
The American Society of Human Genetics, 59th Annual Meeting   20 Oct 2009   
2009. Oct 20-27
Intracystic papillary carcinoma of breast harbors significant genomic alteration compared with intracystic papilloma: Genome-wide copy number and LOH analysis using high-density single-nucleotide polymorphism arrays.
Oikawa M, Nagayasu T, Yano H, Hayashi T, Abe N, Yoshiura K, Niikawa N,
The American Society of Human Genetics, 59th Annual Meeting   20 Oct 2009   
2009. Oct 20-27
The difference of HPV (human papillomavirus) DNA genotypes may influence the speed of caricinogenesis in cervical squamous intraepithelial lesions among Japanese patients.
Yakamaski K, Miura K, Miura S, Shimada T, Fujishita A, Samashima T, Murakami M, Yoshiura K, Masuzaki H.
The American Society of Human Genetics, 59th Annual Meeting   20 Oct 2009   
2009. Oct 20-27
A missense mutation in alternatively spliced exon 8A encoding immunoglobulin domain IIIb of FGFR1 causes Kallmann syndrome.
Kiyonori Miura, Shoko Miura, Kentaro Yamasaki, Koh-ichiro Yoshiura, Hideaki Masuzaki
The 2008 EAUHGS Symposium & the 8th EAUHGS Annual Meeting   19 Jul 2008   
2008. Jul 19
A strong association of axillary osmidrosis with genotype of the ABCC11 gene defining the earwax type.
M. Tsuda, N. Miwa, M. Nakashima, M. Nakano, M. Nakashima, K. Yoshiura, T. Ohta, N. Niikawa.
The European Human Genetics Conference 2008   31 May 2008   
2008. May 3-8
Functional analysis of CD96, a causative gene for a form of C (Opitz trigonocephaly) syndrome.
T. Kaname, K. Yanagi, Y. Chinen, Y. Makita, N. Okamoto, K. Kurosawa, H. Maehara, Y. Fukushima, A. Bohring, J. M. Opitz, K. Yoshiura, N. Niikawa, K. Naritomi
The European Human Genetics Conference 2008   31 May 2008   
2008. May 3-8
Linkage analysis and mutation analysis in Paroxysmal kinesigenic choreoatetosis (PKC).
Taeko Kikuchi, Naohiro Kurotaki, Akira Imamura, Koh-ichiro Yoshiura, Norio Niikawa, Hiroki Ozawa.
American Psychiatric Association, 161st annual meeting   3 May 2008   
2008. May 3-8
Identification of the earwax gene, ABCC11, and its function.
The international symposium in the 7th Annual Meeting of the East Asian union of Human Genetic Society   7 Dec 2007   
2007. Dec 07-08
Search for genomic alterations in monozygotic twins dfscordant for cleft lip and palate.
Kimani JW, Yoshiura K, Murray JC.
The American Society of Human Genetics, 57th Annual Meeting   23 Oct 2007   
2007. Oct 23-27
Circulation cell-free placental mRNA in the maternal plasma as a predictive marker for twin-twin transfusion syndrome.
Miura K,Y oshiura K, Miura S, Nakayama D, Niikawa N, Masuzaki H.
The American Society of Human Genetics, 57th Annual Meeting   23 Oct 2007   
2007. Oct 23-27
Novel CHMP4B mutations underlie autosomal dominant cataracts linked to chromosome 20q.
Shiels A, Bennett TM, Knopf HLS, Yamada K, Yoshiura K, Niikawa N, Shim S, Hanson PI.
The American Society of Human Genetics, 57th Annual Meeting   23 Oct 2007   
2007. Oct 23-27
Genomic strategy identifies Stratifin (SFN) and WD-Repeat Domain 65 (WDR65) as candidate genes for cleft lip and palate.
Kaname T, Yanagi K, Chinen Y, Makita Y, Okamoto N, Maehara H, Owan I, Kanaya F, Oike Y, Yamamoto T, Kurosawa K, Fukushima Y, Opitz JM, Yoshiura K, Niikawa N, Naritomi K.
The American Society of Human Genetics, 57th Annual Meeting   23 Oct 2007   
2007. Oct 23-27
Origin and mechanisms of formation of Fwtus-infetu: Two cases with genotype and methylation analysus.
Miura S, Miura K, Yoshiura K, Hirahara F, Yamanaka M, Niikawa N, Masuzaki H.
The American Society of Human Genetics, 57th Annual Meeting   23 Oct 2007   
2007. Oct 23-27
Angelman syndrome in a boy with familial 15q11.2 microdeletion detected by microarray CGH.
Shimokawa O., Miyake N., Harada N., Sosonkina N., Ohta T., Saitho S., Iwakoshi M., Yoshiura K., Niikawa N., Matsumoto N.
The American Society of Human Genetics 55th Annual Meeting   25 Oct 2005   
2005. Doct 25-29
No causative genomic aberrations by BAC microarray CGH in forty patients with Kabuki make-up syndrome.
Miyake N., Shimokawa O., Harada N., Yoshiura K., Niikwa N., Matsumoto N.
The American Society of Human Genetics 55th Annual Meeting   25 Oct 2005   
2005. Doct 25-29
LRP5, low density lipoprotein receptor-related protein 5, is a bone-mineral-density determinant.
Mizuguchi T, Watanabe Y, Tsukamoto K, Tomita H, Niikawa N, Yoshiura K
4 Nov 2003   
2003. Nov 04-08
Familial isolated congenital anosmia with morphologically normal olfactory bulb in two unrelated Iranian families.
Mohsen Ghadami, Keyvan Majidzadeh-Ardabili, Saeid Morovvati, Gen Nishimura, Norio Niikawa, Koh-ichiro Yoshiura
4 Nov 2003   
2003. Nov 04-08
A novel gene is disrupted at a 14q13 breakpoint of t(2;14)(p23.3;q13) in a patient with mirror-image polydactyly of hands and feet.
Koh-ichiro YOSHIURA, Shinji KNODO, Hirobumi SUGAWARA, Naoki HARADA, Naomichi MATSUMOTO, Hirofumi Ohashi1, Tohru Ohta, Tatsuya KISHINO, Yoshimitsu FUKUSHIMA, Norio NIIKAWA.
戦略的基礎研究推進事業 (CREST) シンポジウム「メンデル細胞遺伝学」   30 Mar 2002   
2002. Mar 30

Research Grants & Projects

 
Drug discovery of Osteoporosis
TGF-β1 plays important role for bone metabolism
Cloning of the gene for cleft lip & palat