東京医科歯科大学小児科

東京医科歯科大学小児科は、日常的な小児医療から難病の治療まで、
患者様の立場に立った優しい医療を行っています。

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業績

2016年度 業績集

東京医科歯科大学大学院医歯学総合研究科年報 2016年

研究業績(原著論文)
  1. T Wada, Toma T, M Yasui, M Inoue, K Kawa, K Imai, T Morio, A Yachie. Different Clinical Phenotypes in 2 Siblings With X-Linked Severe Combined Immunodeficiency. J Investig Allergol Clin Immunol. 2016; 26(1); 63-65
  2. Tomohiro Kohmoto, Atsumi Tsuji, Kei-Ichi Morita, Takuya Naruto, Kiyoshi Masuda, Kenichi Kashimada, Keisuke Enomoto, Tomohiro Morio, Hiroyuki Harada, Issei Imoto. A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome. Hum Genome Var. 2016; 3; 16003
  3. Kotaro Kai, Maki Sumida, Yaeko Motoyoshi, Yuichi Ogawa, Katsuyuki Miki, Kazuhiro Iwadoh, Akihito Sannomiya, Toru Murakami, Ichiro Koyama, Kumiko Kitajima, Ichiro Nakajima, Tomohiro Morio, Shohei Fuchinoue. Successful Long-term Graft Survival of a Renal Transplantation Patient with Wiskott-Aldrich Syndrome. Intern. Med.. 2016; 55(13); 1761-1763
  4. Saito Y, Nishida N, Nomura K, Adachi Y, Kanegane H.. A case of myeloid sarcoma followed by acute myeloid leukemia (AMIL M0). J Hematol Oncol.. 2016; 53(3); 300-304
  5. Mami Miyado, Masafumi Inui, Maki Igarashi, Yuko Katoh-Fukui, Kei Takasawa, Akiko Hakoda, Junko Kanno, Kenichi Kashimada, Kenji Miyado, Moe Tamano, Tsutomu Ogata, Shuji Takada, Maki Fukami. The p.R92W variant of NR5A1/Nr5a1 induces testicular development of 46,XX gonads in humans, but not in mice: phenotypic comparison of human patients and mutation-induced mice. Biol Sex Differ. 2016; 7; 56
  6. Ayumi Kobayashi, Reiko Takasawa, Kei Takasawa, Masato Nishioka, Masahide Kaneko, Hiroshi Ono, Takanobu Maekawa, Tomohiro Morio, Masayuki Shimohira. An infant case of severe hypereosinophilia and systemic symptoms with multiple drug hypersensitivity and reactivation of cytomegalovirus and BK virus. Allergol Int. 2016. pii: S1323-8930(16)30156-3. (PMID: 27843080)
  7. Tsunehiko Kurokami, Yoshiyuki Tachibana, Motoko Kogure and Makiko Okuyama. Pitfalls in the Recognition and Diagnosis of Munchausen Syndrome by Proxy. Clinics Mother Child Health 2016,13:2
  8. Shiba N, Yohsida K, Shiraishi Y, Okuno Y, Yamato G, Hara Y, Nagata Y, Chiba K, Tanaka H, Terui K, Kato M, Park M-J, Ohki K, Shimada A, Takita J, Tomizawa D, Kudo K, Arakawa H, Adachi S, Taga T, Tawa A, Ito E, Horibe K, Sanada M, Miyano S, Ogawa S, Hayashi Y. Whole-exome sequencing reveals the spectrum of gene mutations and the clonal evolution patterns in paediatric acute myeloid leukaemia. Br J Haematol. 2016; 175(3):476-489.( PMID: 27470916)
  9. Tetsuhara K, Ishiguro A, Michihata N, Sensaki S, Kimura Y, Nakadate H, Tomizawa D, Matsumoto K. Pediatric Thromboembolism in Japan. Indian J Pediatr.2016; 83(10):1077-1081. (PMID: 27053184)
  10. Takahashi H, Watanabe T, Kinoshita A, Yuza Y, Moritake H, Terui K, Iwamoto S, Nakayama H, Shimada A, Kudo K, Taki T, Yabe M, Matsushita H, Yamashita Y, Koike K, Ogawa A, Kosaka Y, Tomizawa D, Taga T, Saito AM, Horibe K, Nakahata T, Miyachi H, Tawa A, Adachi S. High event-free survival rate with minimum-dose-anthracycline treatment in childhood acute promyelocytic leukaemia: A nationwide prospective study by the Japanese Paediatric Leukaemia/Lymphoma Study Group. Br J Haematol. 2016; 176(3):437-443. (PMID: 27029412)
  11. Matsuo H, Nakamura N, Tomizawa D, Saito AM, Kiyokawa N, Horibe K, Nishinaka-Arai Y, Tokumasu M, Itoh H, Kamikubo Y, Nakayama H, Kinoshita A, Taga T, Tawa A, Taki T, Tanaka S, Adachi S. CXCR4 Overexpression is a Poor Prognostic Factor in Pediatric Acute Myeloid Leukemia With Low Risk: A Report From the Japanese Pediatric Leukemia/Lymphoma Study Group. Pediatr Blood Cancer 2016; 63(8):1394-1399. (PMID: 27135782)
  12. Keino D, Kinoshita A, Tomizawa D, Takahashi H, Ida K, Kurosawa H, Koike K, Ota S, Iwasaki N, Fujimura J, Yuza Y, Kiyotani C, Yamamoto S, Osumi T, Ueda T, Mochizuki S, Isoyama K, Hanada R, Tawa A, Manabe A, Toguchi Y, Ohara A. Residual disease detected by multidimensional flow cytometry shows prognostic significance in childhood acute myeloid leukemia with intermediate cytogenetics and negative FLT3-ITD: a report from the Tokyo Children's Cancer Study Group. Int J Hematol. 2016; 103(4):16-422.(PMID: 26781613)
  13. Taga T, Murakami Y, Tabuchi K, Adachi S, Tomizawa D, Kojima Y, Kato K, Koike K, Koh K, Kajiwara R, Hamamoto K, Yabe H, Kawa K, Atsuta Y, Kudo K. Role of second transplantation for children with acute myeloid leukemia following post-transplantation relapse. Pediatr Blood Cancer. 2016; 63(4):701-705. (PMID: 26670954)
  14. Shiba N, Ohki K, Kobayashi T, Hara Y, Yamato G, Tanoshima R, Ichikawa H, Tomizawa D, Park M-J, Sotomatsu M, Arakawa H, Horibe K, Adachi S, Taga T, Tawa A, Hayashi Y. High PRDM16 expression identifies a prognostic subgroup of pediatric acute myeloid leukemia correlated to FLT3-ITD, KMT2A-PTD, and NUP98-NSD1: the results of the Japanese Pediatric Leukaemia/Lymphoma Study Group AML-05 trial. Br J Haematol.2016; 172(4):581-591. (PMID: 26684393)
  15. Taga T, Watanabe T, Tomizawa D, Kudo K, Terui K, Moritake H, Kinoshita A, Iwamoto S, Nakayama H, Takahashi H, Shimada A, Taki T, Toki T, Ito E, Goto H, Koh K, Saito AM, Horibe, K, Nakahata T, Tawa A, Adachi S. Preserved high probability of overall survival with significant reduction of chemotherapy for myeloid leukemia of Down syndrome: A nationwide prospective study in Japan. Pediatr Blood Cancer. 2016; 63(2):248-254. (PMID: 26481183)
  16. Nagasawa M, Ono T, Aoki Y, Isoda T, Takagi M, Imai K, Kajiwara M, Morio T. A pediatric case of very late onset non-infectious pulmonary complication (LONIPC) after allogeneic hematopoietic stem cell transplantation. J Clin Exp Transplant. 2016; 1:104.(doi:10.4172/jcet.1000104)
  17. Nagasawa M, Mitsuiki N, Endo A, Aoki Y, Ono T, Isoda T, Takagi M, Kajiwara M, Shimizu N, Morio T. Sequential virus monitoring of pediatric patients with hematopoietic stem cell transplantation by multiplex PCR method. Transplantation Open. 2016; 1(1):17-24. (doi:10.15761/JTO.1000105)
  18. Uchimura I, Kaibara M, Nagasawa M, Hayashi Y. Effect of circulating tissue factor on the hypercoagulability in type 2 diabetes mellitus studied by rheometry and dielectric blood coagulometry. Biorheology. 2016; 53:209-219.  (PMID:27858671)
  19. Kamei K, Ogura M, Sato M, Sako M, Iijima K, Ito S. Risk factors for relapse and long-term outcome in steroid-dependent nephrotic syndrome treated with rituximab. Pediatr Nephrol 2016; 31: 89-95 (PMID: 26341251)
  20. Kamei K, Ishikura K. Rituximab treatment for refractory steroid-resistant nephrotic syndrome. Pediatr Nephrol 2016; 31: 337-338.(PMID: 26386588)
  21. Kamei K, Ogura M, Sato M, Ito S, Ishikura K. Evolution of IgA nephropathy into anaphylactoid purpura in six cases-further evidence that IgA nephropathy and Henoch-Schonlein purpura nephritis share common pathogenesis. Pediatr Nephrol 2016; 31: 779-785 (PMID: 26679340)
  22. Kamei K, Harada R, Hamada R, Sakai T, Hamasaki Y, Hataya H, Ito S, Ishikura K, Honda M. Proteinuria during Follow-Up Period and Long-Term Renal Survival of Childhood IgA Nephropathy. PLoS One 2016; 11: e0150885 (PMCID: PMC4792393)
  23. Tomohiro Udagawa, Tohaku Jo, Takeshi Yanagihara, Akira Shimizu, Jun Mitsui, Shoji Tsuji, Shinichi Morishita,Reiko Onai, Ken ichiro Miura, Shoichiro Kanda, Tuko Kajiho, Haruko Tsurumi, Akira Oka, Motoshi Hattori, Yutaka Harita. Altered expression of Crb2 in podocytes expands a variation of CRB2 mutations in steroid-resistant nephrotic syndrome. Pediatr Nephrol.2016. (PMID: 27942854)
  24. Sinpei Baba, Eri Takeshita, Hiroko Yamazaki, Tarashima M, Masayuki Sasaki. Disruption of the photoreceptor inner segment-outer segment junctions in a 6-year-old girl with Joubert syndrome. Neuroopthamology. 2016.19; 41(1); 19-23(PMID 28228833)
  25. Takishima S, Nakajima K, Nomura R, Tsuji-Hosokawa A, Matsuda N, Matsubara Y, Ono M, Miyai K, Takasawa K, Morio T, Hasegawa Y, Kashimada K. Lower body weight and BMI at birth were associated with early adiposity rebound in 21-hydroxylase deficiency patients. Endocr J. 2016;63(11):983-990. (PMID: 27545660)
  26. Kentaro Shirai, Yoshiaki Saito, Yoko Nishimura, Akiko Tamasaki, Hosihiro Maegaki. Stimulus-induced reflex epileptic spasms in 5p-syndrome. Brain Dev. 2016.38(2)261-265. (PMID:26298410)
  27. Yuki Aoki, Reiji Miyawaki, Kohsuke Imai, Masatoshi Takagi, Michiko Kajiwara, Yasuyoshi Ishiwata, Masato Yasuhara, Tomohiro Morio, Shuki Mizutani, Daisuke Tomizawa. Haploidentical Bone Marrow Transplantation With Clofarabine and Busulfan Conditioning for a Child With Multiple Recurrent Acute Lymphoblastic Leukemia. J. Pediatr. Hematol. Oncol.. 2016.01; 38(1); 39-41
  28. Seiichi Hayakawa, Satoshi Okada, Miyuki Tsumura, Sonoko Sakata, Yoshitaka Ueno, Kohsuke Imai, Tomohiro Morio, Osamu Ohara, Kazuaki Chayama, Masao Kobayashi. A Patient with CTLA-4 Haploin- sufficiency Presenting Gastric Cancer. J. Clin. Immunol.. 2016.01; 36(1); 28-32
  29. Laura Gámez-Díaz, Dietrich August, Polina Stepensky, Shoshana Revel-Vilk, Markus G Seidel, Mitsuiki Noriko, Tomohiro Morio, Austen J J Worth, Jacob Blessing, Frank Van de Veerdonk, Tobias Feuchtinger, Maria Kanariou, Annette Schmitt-Graeff, Sophie Jung, Suranjith Seneviratne, Siobhan Burns, Bernd H Belohradsky, Nima Rezaei, Shahrzad Bakhtiar, Carsten Speckmann, Michael Jordan, Bodo Grimbacher. The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency. J. Allergy Clin. Immunol.. 2016.01; 137(1); 223-230
  30. Kei Takasawa, Yuichi Miyakawa, Atsushi Masamune, Kenichi Kashimada, Masayuki Shimohira. Acta Diabetol. 2016 Jun;53(3):507-10. doi: 10.1007/s00592-015-0834-9. Epub 2016 Jan 18 (PMID: 26782097 )
  31. T Muto, Y Takeda, S Tsukamoto, S Sakai, N Mimura, C Ohwada, M Takeuchi, E Sakaida, S Ota, T Iseki, N Shimizu, T Morio, C Nakaseko. Successful treatment of cytomegalovirus enteritis after unrelated allogeneic stem cell transplantation by the infusion of ex vivo-expanded CD4(+) lymphocytes derived from the recipient’s peripheral blood donor cells. Transpl Infect Dis. 2016.02; 18(1); 93-97
  32. Kei Takasawa, Sayaka Takeda, Masato Nishioka, Hiroshi Sakuma, Tomohiro Morio, Masayuki Shimohira. Steroid-responsive Status Epilepticus Caused by Human Parvovirus B19 Encephalitis. Pediatr. Infect. Dis. J.. 2016.02; 35(2); 227-228
  33. Yumiko Nakano, Takeshi Hayashi, Kentaro Deguchi, Kota Sato, Nozomi Hishikawa, Toru Yamashita, Yasuyuki Ohta, Yoshiki Takao, Tomohiro Morio, Koji Abe. Two young stroke patients associated with regular intravenous immunoglobulin (IVIg) therapy. J. Neurol. Sci.. 2016.02; 361; 9-12
  34. Kazuhiro Ikegame, Kohsuke Imai, Motoi Yamashita, Akihiro Hoshino, Hirokazu Kanegane, Tomohiro Morio, Katsuji Kaida, Takayuki Inoue, Toshihiro Soma, Hiroya Tamaki, Masaya Okada, Hiroyasu Ogawa. Allogeneic stem cell transplantation for X-linked agammaglobulinemia using reduced intensity conditioning as a model of the reconstitution of humoral immunity. J Hematol Oncol. 2016.02; 9(1); 9
  35. A Arai, C Sakashita, C Hirose, K-I Imadome, M Yamamoto, M Jinta, S Fujiwara, M Tomita, N Shimizu, T Morio, O Miura. Hematopoietic stem cell transplantation for adults with EBV-positive T- or NK-cell lymphoproliferative disorders: efficacy and predictive markers. Bone Marrow Transplant.. 2016.02; 51(6); 879-882
  36. Kei Takasawa; Sayaka Takeda; Masato Nishioka; Hiroshi Sakuma; Tomohiro Morio; Masayuki Shimohira. Steroid-responsive Status Epilepticus Caused by Human Parvovirus B19 Encephalitis. Pediatr Infect Dis J. 2016 Feb;35(2):227-8. (PMID: 26756268)
  37. Amit Rawat, Kohsuke Imai, Deepti Suri, Anju Gupta, Swapnil Bhisikar, Biman Saikia, Ranjana W Minz, Shobha Sehgal, Surjit Singh. Ataxia Telangiectasia Masquerading as Hyper IgM Syndrome. Indian J Pediatr. 2016.03; 83(3); 270-271
  38. Katsutsugu Umeda, Souichi Adachi, Yasuo Horikoshi, Kohsuke Imai, Kiminori Terui, Mikiya Endo, Tetsuo Mitsui, Keisuke Kato, Katsuyoshi Koh, Ryosuke Kajiwara, Rieko Ito, Yoshitoshi Otsuka, Masami Inoue, Eiichi Ishii, Hiromasa Yabe. Allogeneic hematopoietic stem cell transplantation for Chediak-Higashi syndrome. Pediatr Transplant. 2016.03; 20(2); 271-275
  39. Hiroshi Moritake, Masatoshi Takagi, Mariko Kinoshita, Osamu Ohara, Shojiro Yamamoto, Sayaka Moriguchi, Hiroyuki Nunoi. Autoimmunity Including Intestinal Behçet Disease Bearing the KRAS Mutation in Lym- phocytes: A Case Report. Pediatrics. 2016.03; 137(3); 1-5
  40. Okada M, Sato M, Ogura M, Kamei K, Matsuoka K, Ito S. Central venous catheter infection-related glomerulonephritis under long-term parenteral nutrition: a report of two cases. BMC Res Notes. 2016 Mar 31;9:196. (PMID:27036403)
  41. Masakatsu Yanagimachi, Takashi Ohya, Tomoko Yokosuka, Ryosuke Kajiwara, Fumiko Tanaka, Hiroaki Goto, Takehiro Takashima, Tomohiro Morio, Shumpei Yokota. The Potential and Limits of Hematopoietic Stem Cell Transplantation for the Treatment of Autosomal Dominant Hyper-IgE Syndrome. J. Clin. Immunol.. 2016.04; 36(5); 511-5161112016年業績
  42. Julie Toubiana, Satoshi Okada, Julia Hiller, Matias Oleastro, Macarena Lagos Gomez, Juan Carlos Al- dave Becerra, Marie Ouachée-Chardin, Fanny Fouyssac, Katta Mohan Girisha, Amos Etzioni, Joris Van Montfrans, Yildiz Camcioglu, Leigh Ann Kerns, Bernd Belohradsky, Stéphane Blanche, Aziz Bousfiha, Carlos Rodriguez-Gallego, Isabelle Meyts, Kai Kisand, Janine Reichenbach, Ellen D Renner, Sergio Rosen- zweig, Bodo Grimbacher, Frank L van de Veerdonk, Claudia Traidl-Hoffmann, Capucine Picard, Laszlo Marodi, Tomohiro Morio, Masao Kobayashi, Desa Lilic, Joshua D Milner, Steven Holland, Jean-Laurent Casanova, Anne Puel. Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype: an international survey of 274 patients from 167 kindreds. Blood. 2016.04; 127(25); 3154-3164
  43. Chika Kobayashi, Masayuki Nagasawa, Noriko Mitsuiki, Akifumi Endo, Yuki Aoki, Toshiaki Ono, Kohsuke Imai, Masatoshi Takagi, Michiko Kajiwara, Tomohiro Morio.. Recombinant Human SolubleThrom- bomodulin is Effective for Severe Childhood EBV-HLH. 2016.05; 2(1); 1-4
  44. Yuki Tsujita, Kanako Mitsui-Sekinaka, Kohsuke Imai, Tzu-Wen Yeh, Noriko Mitsuiki, Takaki Asano, Hi- denori Ohnishi, Zenichiro Kato, Yujin Sekinaka, Kiyotaka Zaha, Tamaki Kato, Tsubasa Okano, Takehiro Takashima, Kaoru Kobayashi, Mitsuaki Kimura, Tomoaki Kunitsu, Yoshihiro Maruo, Hirokazu Kane- gane, Masatoshi Takagi, Kenichi Yoshida, Yusuke Okuno, Hideki Muramatsu, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Seiji Kojima, Seishi Ogawa, Osamu Ohara, Satoshi Okada, Masao Kobayashi, Tomohiro Morio, Shigeaki Nonoyama. Phosphatase and tensin homolog (PTEN) mutation can cause activated phosphatidylinositol 3-kinase δ syndrome-like immunodeficiency. J. Allergy Clin. Immunol.. 2016.06; 138(6); 1672-1680
  45. Takasawa K, Miyakawa Y, Masamune A, Kashimada K, Shimohira M. Fibrocalculous pancreatic diabetes in a Japanese girl with severe motor and intellectual disabilities. Acta Diabetologica. 2016.06; 53(3); 507-510
  46. Elodie Elkaim, Benedicte Neven, Julie Bruneau, Kanako Mitsui-Sekinaka, Aurelie Stanislas, Lucie Heurtier, Carrie L Lucas, Helen Matthews, Marie-Céline Deau, Svetlana Sharapova, James Curtis, Janine Reichen- bach, Catherine Glastre, David A Parry, Gururaj Arumugakani, Elizabeth McDermott, Sara Sebnem Kilic, Motoi Yamashita, Despina Moshous, Hicham Lamrini, Burkhard Otremba, Andrew Gennery, Tanya Coul- ter, Isabella Quinti, Jean-Louis Stephan, Vassilios Lougaris, Nicholas Brodszki, Vincent Barlogis, Takaki Asano, Lionel Galicier, David Boutboul, Shigeaki Nonoyama, Andrew Cant, Kohsuke Imai, Capucine Picard, Sergey Nejentsev, Thierry Jo Molina, Michael Lenardo, Sinisa Savic, Marina Cavazzana, Alain Fischer, Anne Durandy, Sven Kracker. Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study. J. Allergy Clin. Immunol.. 2016.07; 138(1); 210-218.e9
  47. Shima H, Tanaka T, Kamimaki T, Dateki S, Muroya K, Horikawa R, Kanno J, Adachi M, Naiki Y, Tanaka H, Mabe H, Yagasaki H, Kure S, Matsubara Y, Tajima T, Kashimada K, Ishii T, Asakura Y, Fujiwara I, Soneda S, Nagasaki K, Hamajima T, Kanzaki S, Jinno T, Ogata T, Fukami M; Japanese SHOX study group.. Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis. Journal of human genetics. 2016.07; 61(7); 585-591
  48. Shigeru Takishima, Keisuke Nakajima, Risa Nomura, Atsumi Tsuji-Hosokawa, Nozomi Matsuda, Yohei Matsubara, Makoto Ono, Kentaro Miyai, Kei Takasawa, Tomohiro Morio, Yukihiro Hasegawa, Kenichi Kashimada. Lower body weight and BMI at birth were associated with early adiposity rebound in 21- hydroxylase deficiency patients. Endocr. J.. 2016.08; 63(11); 983-990
  49. Katsutsugu Umeda, Souichi Adachi, Shiro Tanaka, Mizuka Miki, Keiko Okada, Yoshiko Hashii, Masami Inoue, Yuko Cho, Katsuyoshi Koh, Hiroaki Goto, Ryosuke Kajiwara, Nobuyuki Hyakuna, Koji Kato, Tomohiro Morio, Hiromasa Yabe, . Comparison of second transplantation and donor lymphocyte infusion for donor mixed chimerism after allogeneic stem cell transplantation for nonmalignant diseases. Pediatr Blood Cancer. 2016.08; 63(12); 2221-2229
  50. Takuya Wakamiya, Tatsunori Hokosaki, Shin-Ichi Tsujimoto, Keisuke Kadota, Yusuke Nakano, Shigeo Watanabe, Mari Iwamoto, Masakatsu Yanagimachi, Shuichi Ito. Effect of VKORC1, CYP2C9, CFP4F2, and GGCX Gene Polymorphisms on Warfarin Dose in Japanese Pediatric Patients. Mol Diagn Ther. 2016.08; 20(4); 393-400
  51. A Hayashi, R Tanoshima, S-I Tsujimoto, M Yanagimachi, M Takeuchi, K Sasaki, J Ikeda, R Kajiwara, S Ito, H Takahashi. Crizotinib treatment for refractory pediatric acute myeloid leukemia with RAN-binding protein 2-anaplastic lymphoma kinase fusion gene. Blood Cancer J. 2016.08; 6(8); e456
  52. Shumpei Yokota, Yasuhiko Itoh, Tomohiro Morio, Hideki Origasa, Naokata Sumitomo, Minako Tomobe, Kunihiko Tanaka, Seiji Minota. Tocilizumab in systemic juvenile idiopathic arthritis in a real-world clinical setting: results from 1 year of postmarketing surveillance follow-up of 417 patients in Japan. Ann. Rheum. Dis.. 2016.09; 75(9); 1650-1660
  53. Takeshi Sato, Tsubasa Okano, Mari Tanaka-Kubota, Shunsuke Kimura, Satoshi Miyamoto, Shintaro Ono, Motoi Yamashita, Noriko Mitsuiki, Masatoshi Takagi, Kohsuke Imai, Michiko Kajiwara, Takasuke Ebato, Shohei Ogata, Hirotsugu Oda, Osamu Ohara, Hirokazu Kanegane, Tomohiro Morio. Novel compound heterozygous mutations in a Japanese girl with Janus kinase 3 deficiency. Pediatr Int. 2016.09; 58(10); 1076-1080
  54. Akaike S, Kamoi K, Tezsuka M, Tomizawa D, Yoshimura R, Takagi M, Ohno-Matsui K. Ocular mani- festation in myeloid/NK cell precursor acute leukemia: a case report. Diagnosed by flow cytometry and PCR from aqueous humor. Medicine (Baltimore). 2016.09; 95(38); e4967
  55. Surjit Singh, Amit Rawat, Deepti Suri, Anju Gupta, Ravinder Garg, Biman Saikia, Ranjana Walker Minz, Shobha Sehgal, Koon-Wing Chan, Yu Lung Lau, Chikako Kamae, Kenichi Honma, Noriko Nak- agawa, Kohsuke Imai, Shigeaki Nonoyama, Koichi Oshima, Noriko Mitsuiki, Osamu Ohara. X-linked agammaglobulinemia: Twenty years of single-center experience from North West India. Ann. Allergy Asthma Immunol.. 2016.10; 117(4); 405-411
  56. Miki Murakoshi, Kei Takasawa, Masato Nishioka, Masahiro Asakawa, Kenichi Kashimada, Takanobu Yoshimoto, Toshiyuki Yamamoto, Kazuhiro Takekoshi, Yoshihiro Ogawa, Masayuki Shimohira. Abdominal paraganglioma in a young woman with 1p36 deletion syndrome. Am J Med Genet A. 2017 Feb;173(2):495-500. doi: 10.1002/ajmg.a.38020. Epub 2016 Oct 24. (PMID: 27774766)
  57. Daiei Kojima, Hideki Muramatsu, Yusuke Okuno, Shinsuke Kataoka, Norihiro Murakami, Yoshihiro Tana- hashi, Kyogo Suzuki, Tamaki Kato, Yuko Sekiya, Nozomu Kawashima, Atsushi Narita, Nobuhiro Nishio, Asahito Hama, Kohsuke Imai, Shigeaki Nonoyama, Yoshiyuki Takahashi, Seiji Kojima. Successful T-cell reconstitution after unrelated cord blood transplantation in a patient with complete DiGeorge syndrome. J. Allergy Clin. Immunol.. 2016.11; 138(5); 1471-1473.e4
  58. Minoru Asada, Shuki Mizutani, Masatoshi Takagi, Hidenori Suzuki. Antipsychotics promote neural dif- ferentiation of human iPS cell-derived neural stem cells. Biochem. Biophys. Res. Commun.. 2016.11; 480(4); 615-621
  59. Shin-Ichi Tsujimoto, Masakatsu Yanagimachi, Reo Tanoshima, Kevin Y Urayama, Fumiko Tanaka, Noriko Aida, Hiroaki Goto, Shuichi Ito. Influence of ADORA2A gene polymorphism on leukoencephalopathy risk in MTX-treated pediatric patients affected by hematological malignancies. Pediatr Blood Cancer. 2016.11; 63(11); 1983-1989
  60. Hiroshi Moritake, Megumi Obara, Yusuke Saito, Ayako Kashimada, Masatoshi Takagi, Megumi Funakoshi- Tago, Tomofusa Fukuyama, Mikio Yoshioka, Akira Inoue, Hiroyuki Komatsu, Hideki Nishitoh, Hiroaki Kataoka, Hiroyuki Nunoi. A mouse model reveals that Mfsd2a is critical for unfolded protein response upon exposure to tunicamycin. Hum. Cell. 2016.11;
  61. Akifumi Endo, Daisuke Tomizawa, Yuki Aoki, Tomohiro Morio, Shuki Mizutani, Masatoshi Takagi. EWSR1/ELF5 induces acute myeloid leukemia by inhibiting p53/p21 pathway. Cancer Sci.. 2016.12; 107(12); 1745-1754
  62. Mayu Ishibashi, Tomoko Yokosuka, Masakatsu D Yanagimachi, Fuminori Iwasaki, Shin-Ichi Tsujimoto, Koji Sasaki, Masanobu Takeuchi, Reo Tanoshima, Hiromi Kato, Ryosuke Kajiwara, Fumiko Tanaka, Hiroaki Goto, Shumpei Yokota. Clinical Courses of Two Pediatric Patients with Acute Megakaryoblastic Leukemia Harboring the CBFA2T3-GLIS2 Fusion Gene. Turk J Haematol. 2016.12; 33(4); 331-334
  63. Stefanie Eggers, Simon Sadedin, Jocelyn A. van den Bergen, Gorjana Robevska, Thomas Ohnesorg, Jacqueline Hewitt, Luke Lambeth, Aurore Bouty, Ingrid M. Knarston, Tiong Yang Tan, Fergus Cameron, George Werther, John Hutson, Michele O’Connell, Sonia R. Grover, Yves Heloury, Margaret Zacharin, Philip Bergman, Chris Kimber, Justin Brown, Nathalie Webb, Matthew F. Hunter, Shubha Srinivasan, Angela Titmuss, Charles F. Verge, David Mowat, Grahame Smith, Janine Smith, Lisa Ewans, Carolyn Shalhoub, Patricia Crock, Chris Cowell, Gary M. Leong, Makato Ono, Antony R. Lafferty, Tony Huynh, Uma Visser, Catherine S. Choong, Fiona McKenzie, Nicholas Pachter, Elizabeth M. Thompson, Jennifer Couper, Anne Baxendale, Jozef Gecz, Benjamin J. Wheeler, Craig Jefferies, Karen MacKenzie, Paul Hofman, Philippa Carter, Richard I. King, Csilla Krausz, Conny M. A. van Ravenswaaij-Arts, Leendert Looijenga, Sten Drop, Stefan Riedl, Martine Cools, Angelika Dawson, Achmad Zulfa Juniarto, Vaman Khadilkar, Anuradha Khadilkar, Vijayalakshmi Bhatia, Vũ Chí Dũng, Irum Atta, Jamal Raza, Nguyen thi Diem Chi, Tran Kiem Hao, Vincent Harley, Peter Koopman, Garry Warne, Sultana Faradz, Alicia Oshlack, Katie L. Ayers and Andrew H. Sinclair. Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort. Genome Biol. 2016;17(1):243. (PMID: 27899157)
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