Publications 2016 (Oct. 2015 – Sept. 2016)

Ubukata K, Chiba N, Hanada S, Morozumi M, Wajima T, Shouji M, Iwata S. Invasive Pneumococcal Diseases Surveillance Study Group.: Serotype Changes and Drug Resistance in Invasive Pneumococcal Diseases in Adults after Vaccinations in Children, Japan, 2010-2013. Emerg Infect Dis. 2015;21:1956-1965.
＊Shinjoh M, Sugaya N, Yamaguchi Y, Tomidokoro Y, Sekiguchi S, Mitamura K, Fujino M, Shiro H, Komiyama O, Taguchi N, Nakata Y, Yoshida N, Narabayashi A, Myokai M, Sato M, Furuichi M, Baba H, Fujita H, Sato A, Ookawara, I , Tsunematsu K, Yoshida M, Kono M, Tanaka F, Kawakami C, Kimiya T, Takahashi T, Iwata S. Keio Pediatric Influenza Research Group. Effectiveness of trivalent inactivated influenza vaccine in children estimated by a test-negative case-control design study based on influenza rapid diagnostic test. PLOS ONE. 2015;10:e0136539.
González-Juarbe N, Gilley RP, Hinojosa CA, Bradley KM, Kamei A, Gao G, Dube PH, Bergman MA, Orihuela CJ. Pore-Forming Toxins Induce Macrophage Necroptosis during Acute Bacterial Pneumonia. PLoS Pathog. 2015;11:e1005337.
Ishikawa K, Hamasuna R, Uehara S, Yasuda M, Yamamoto S, Hayami H, Takahashi S, Matsumoto T, Minamitani S, Kadota JI, Iwata S, Kaku M, Watanabe A, Sunakawa K, Sato J, Hanaki H, Tsukamoto T, Kiyota H, Egawa S, Deguchi T, Matsumoto M, Tanaka K, Arakawa S, Fujisawa M, Kumon H, Kobayashi K, Matsubara A, Wakeda H, Amemoto Y, Onodera S, Goto H, Komeda H, Yamashita M, Takenaka T, Fujimoto Y, Tsugawa M, Takahashi Y, Maeda H, Onishi H, Ishitoya S, Nishimura K, Mitsumori K, Ito T, Togo Y, Nakamura I, Ito N, Kanamaru S, Hirose T, Muranaka T, Yamada D, Ishihara S, Oka H, Inatomi H, Matsui T, Kobuke M, Kunishima Y, Kimura T, Ichikawa T, Kagara I, Matsukawa M, Takahashi K, Mita K, Kato M, Okumura K, Kawanishi H, Hashimura T, Aoyama T, Shigeta M, Koda S, Taguchi K, Matsuda Y.: Japanese nationwide surveillance in 2011 of antibacterial susceptibility patterns of clinical isolates from complicated urinary tract infection cases. J Infect Chemother. 2015;21:623-633.
Shoji K, Funaki T, Kasahara M, Sakamoto S, Fukuda A, Vaida F, Ito K, Miyairi I, Saitoh A. Risk Factors for Bloodstream Infection After Living-donor Liver Transplantation in Children. Pediatr Infect Dis J. 2015;34:1063-1068.
Kelley J, Tristram D, Yamada M, Grose C. Failure of a Single Varicella Vaccination to protect children with cancer from life-threatening breakthrough varicella. Pediatr Infect Dis J. 2015;34:1027-1029.
Nakagawa Y, Shimada Y, Kinai E, Kawasaki Y, Maruoka Y, Yamamoto K, Oka S. Long-handle toothbrush for haemophiliacs with severe elbow arthropathy. Haemophilia. 2015;21:e481-483.
Furuichi M, Ito K, Miyairi I. Characteristics of Stenotrophomonas maltophilia bacteremia in children. Pediatr Int. 2016;58:113-118.
＊Fujita H, Shinjoh M, Ishii T, Awazu M. Utility of fractional excretion of urea in the differential diagnosis of acute kidney injury in children. Pediatr Nephrol. 2016; 31:1349-1353.
Kinai E, Kato S, Hosokawa S, Sadatsuki M, Gatanaga H, Kikuchi Y, Lam NV, Ha DQ, Kinh NV, Liem NT, Oka S. High plasma concentrations of zidovudine (AZT) do not parallel intracellular concentrations of AZT-triphosphates in infants during prevention of mother-to-child HIV-1 transmission. J Acquir Immune Defic Syndr. 2016;72:246-253.
＊Matsui Y, Takenouchi T, Narabayashi A, Ohara K, Nakahara T, Takahashi T. Childhood Sjögren syndrome presenting as acute brainstem encephalitis. Brain Dev. 2016;38:158-62.
Miyairi I, Funaki T, Saitoh A. Immunization practices in solid organ transplant recipients. Vaccine. 2016;34:1958-1964.
Nakayama T, Kohdera U, Fujino M, Tanaka T, Yatabe K, Hashiguchi T, Sato T, Kino M. Appropriate needle lengths determined using ultrasonic echograms for intramuscular injections in Japanese infants. Open J Pediatr. 2016;6:163-170.
Nakayama T, Swada A, Ymaji Y, Ito T. Recombinant measles AIK-C vaccine strain expressing heterologous virus antigens. Vaccine. 2016;34:292-295.
Sato M, Kuroda M, Kasai M, Matsui H, Fukuyama T, Katano H, Tanaka-Taya K. Acute encephalopathy in an immunocompromised boy with astrovirus-MLB1 infection detected by next generation sequencing. J Clin Virol. 2016;78:66-70.
Sato M, Kubota N, Horiuchi A, Kasai M, Minami K, Matsui H. Frequency, clinical manifestations, and outcomes of Staphylococcus lugdunensis Bacteremia in children. J Infect Chemother. 2016;22:298-302.
＊Yasui Y, Yamaji Y, Sawada A, Ito T, Nakayama T. Cell fusion assay by expression of respiratory syncytial virus (RSV) fusion protein to analyze the mutation of palivizumab-resistant strains. J Virol Meth. 2016;231:1-8.
Funaki T, Inoue E, Miyairi I. Clinical characteristics of the patients with bacteremia due to Moraxella catarrhalis in children: a case-control study. BMC Infect Dis. 2016;16:73.
Hanada S, Iwata S, Kishi K, Morozumi M, Chiba N, Wajima T, Takata M, Ubukata K; Invasive Pneumococcal Diseases Surveillance Study Group.: Correction: Host Factors and Biomarkers Associated with Poor Outcomes in Adults with Invasive Pneumococcal Disease. PLoS One. 2016;11:e0153109.
Hanada S, Iwata S, Kishi K, Morozumi M, Chiba N, Wajima T, Takata M, Ubukata K; Invasive Pneumococcal Diseases Surveillance Study Group.: Host Factors and Biomarkers Associated with Poor Outcomes in Adults with Invasive Pneumococcal Disease. PLoS One. 2016;11:e0147877.
Higuchi A, Toriniwa H, Komiya T, Nakayama T. Recombinant measles AIK-C strain expressing the prM-E antigen of Japanese Encephalitis virus. PLOS ONE. 2016; DOI:10.1371/journal.pone.0150213.
Horner K, Yamada M, Zuccoli G, Rosenberg S, Greene S, Vellody K, Zuckerbraun NS. A 34-Day-Old with fever, cerebrospinal fluid pleocytosis, and Staphylococcus aureus bacteremia. Pediatrics. 2016;137.
Ito K, Kasahara M, Saitoh A, Honda H, Miyairi I. High rate of vaccine failure after administration of acellular pertussis vaccine pre- and post-liver transplantation in children at a children’s hospital in Japan. Transpl Infect Dis. 2016;18:150-154.
Okafuji T, Okafuji T, Nakayama T. Persistence of immunity acquired after a single dose of rubella vaccine in Japan. Jpn J Infect Dis. 2016;69:221–223.
Sawada A, Nakayama T. Experimental animal model for analyzing immunobiological responses following vaccination with formalin-inactivated respiratory syncytial virus. Microbiol Immunol. 2016;60:234-242.
Takahashi S, Hamasuna R, Yasuda M, Ishikawa K, Hayami H, Uehara S, Yamamoto S, Minamitani S, Kadota J, Iwata S, Kaku M, Watanabe A, Sato J, Hanaki H, Masumori N, Kiyota H, Egawa S, Tanaka K, Arakawa S, Fujisawa M, Kumon H, Wada K, Kobayashi K, Matsubara A, Matsumoto T, Eto M, Tatsugami K, Kuroiwa K, Ito K, Hosobe T, Hirayama H, Narita H, Yamaguchi T, Ito S, Sumii T, Kawai S, Kanokogi M, Kawano H, Chokyu H, Uno S, Monden K, Kaji S, Kawahara M, Takayama K, Ito M, Yoshioka M, Kano M, Konishi T, Kadena H, Nishi S, Nishimura H, Yamauchi T, Maeda S, Horie M, Ihara H, Matsumura M, Shirane T, Takeyama K, Akiyama K, Takahashi K, Ikuyama T, Inatomi H, Yoh M.: Nationwide surveillance of the antimicrobial susceptibility of Chlamydia trachomatis from male urethritis in Japan. J Infect Chemother. 2016;22:581-586.
Mikasa K, Aoki N, Aoki Y, Abe S, Iwata S, Ouchi K, Kasahara K, Kadota J, Kishida N, Kobayashi O, Sakata H, Seki M, Tsukada H, Tokue Y, Nakamura-Uchiyama F, Higa F, Maeda K, Yanagihara K, Yoshida K.: JAID/JSC Guidelines for the Treatment of Respiratory Infectious Diseases: The Japanese Association for Infectious Diseases/Japanese Society of Chemotherapy – The JAID/JSC Guide to Clinical Management of Infectious Disease/Guideline-preparing Committee Respiratory Infectious Disease WG. J Infect Chemother. 2016;22(7 Suppl):S1-S65.
Suzuki J, Kobayashi S, Osuka H, Kawahata D, Oishi T, Sekiguchi K, Hamada A, Iwata S.: Characterization of a human isolate of Tritrichomonas foetus (cattle/swine genotype) infected by a zoonotic opportunistic infection. J Vet Med Sci. 2016;78:633-640.
Suzuki S, Morino E, Ishii M, Namkoong H, Yagi K, Asakura T, Asami T, Fujiwara H, Uwamino Y, Nishimura T, Tasaka S, Betsuyaku T, Takasaki J, Iwata S, Hasegawa N.: Clinical characteristics of pulmonary Mycobacterium scrofulaceum disease in 2001-2011: A case series and literature review. J Infect Chemother. 2016;22:611-616.
Takahashi S, Ishii M, Namkoong H, Hegab AE, Asami T, Yagi K, Sasaki M, Haraguchi M, Sato M, Kameyama N, Asakura T, Suzuki S, Tasaka S, Iwata S, Hasegawa N, Betsuyaku T.: Pneumococcal Infection Aggravates Elastase-Induced Emphysema via Matrix Metalloproteinase 12 Overexpression. J Infect Dis. 2016;213:1018-1030.
Wajima T, Morozumi M, Hanada S, Sunaoshi K, Chiba N, Iwata S, Ubukata K.: Molecular Characterization of Invasive Streptococcus dysgalactiae subsp. equisimilis, Japan. Emerg Infect Dis. 2016;22:247-254.
＊Yamaji Y, Yasui Y, Nakayama T. Development of acquired immunity following repeated respiratory syncytial virus infections in cotton rats. PLOS ONE. 2016;1/journal.pone.0155777.
Sano G, Itagaki T, Ishiwada N, Matsubara K, Iwata S, Nakamori Y, Matsuyama K, Watanabe K, Ishii Y, Homma S, Tateda K.: Characterization and Evaluation of Newly Developed Immune-Chromatographic Method Targeting Mycoplasma pneumoniae Ribosomal Protein L7/L12. J Med Microbiol. 2016 Aug 19. doi: 10.1099/jmm.0.000336. [Epub ahead of print]
Kamei A, Gao G, Neale G, Loh L, Vogel P, Thomas PG, Tuomanen EI, Murray PJ. Exogenous remodeling of lung resident macrophages protects against infectious consequences of bone marrow-suppressive chemotherapy. Proc Natl Acad Sci USA. (in press)
＊Mitani M, Furuichi M, Narumi S, Hasegawa T, Chiga M, Uchida S, Sato S. A KLHL3 Mutation-Carrying Patient with Pseudohypoaldosteronism Type II Complicated by Congenital Hypopituitarism. Clin Pediat Endocrinol (in press)
Furuichi M, Fujiwara T, Fukuda A, Kasahara M, Miyairi I. Fulminant hepatic failure as a risk factor for cytomegalovirus infection in children receiving preemptive therapy after living donor liver transplantation. Tranplantation. Accepted for publication.
Furuichi M, Miyairi I. Risk factors for persistent bacteremia in infants with catheter-related bloodstream infection due to coagulase-negative Staphylococcus in the neonatal intensive care unit. J Infect Chemother. Accepted for publication
Ong SG, Lee WH, Kodo K, Wu JC. MicroRNA-mediated regulation of differentiation and trans-differentiation in stem cells. Adv Drug Deliv Rev. 2015;88:3-15.
Ong SG, Huber BC, Lee WH, Kodo K, Ebert AD, Ma Y, Nguyen PK, Diecke S, Chen WY, Wu JC. Microfluidic Single-Cell Analysis of Transplanted Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes After Acute Myocardial Infarction. Circulation. 2015;132:762-771.
Kojima T, Yasuhara J, Kumamoto T, Shimizu H, Yoshiba S, Kobayashi T, Sumitomo N. Usefulness of the Red Blood Cell Distribution Width to Predict Heart Failure in Patients With a Fontan Circulation. Am J Cardiol. 2015;116:965-968.
Takahashi T, Sakakibara H, Morikawa Y, Miura M. Development of coronary artery lesions in indolent Kawasaki disease following initial spontaneous defervescence: a retrospective cohort study. Pediatr Rheumatol Online J. 2015;13:44.
Kodo K, Ong SG, Wu JC. Transformation to Inducible Pluripotent Stem Cells, In Stem Cell and Gene Therapy for Cardiovascular Disease (eds.) Perin E et al. Elsevier. 2015.p243-265.
Jung G, Fajardo G, Ribeiro AJ, Kooiker KB, Coronado M, Zhao M, Hu DQ, Reddy S, Kodo K, Sriram K, Insel PA, Wu JC, Pruitt BL, Bernstein D. Time-dependent evolution of functional vs. remodeling signaling in induced pluripotent stem cell-derived cardiomyocytes and induced maturation with biomechanical stimulation. FASEB J. 2016;30:1464-1479.
Riegler J, Ebert A, Qin X, Shen Q, Wang M, Ameen M, Kodo K, Ong SG, Lee WH, Lee G, Neofytou E, Gold JD, Connolly AJ, Wu JC. Comparison of Magnetic Resonance Imaging and Serum Biomarkers for Detection of Human Pluripotent Stem Cell-Derived Teratomas. Stem Cell Reports. 2016;6:176-187.
Kumamoto T, Sumitomo N, Kobayashi T, Yasuhara J, Shimizu H. Implantation of ileofemoral stents: A novel approach for bilateral occlusions of the iliofemoral vein in a patient with a Glenn operation. HeartRhythm Case Rep. 2016;2:138-141.
＊Terano C, Ishikura K, Miura M, Hamada R, Harada R, Sakai T, Hamasaki Y, Hataya H, Ando T, Honda M. Incidence of and risk factors for severe acute kidney injury in children with heart failure treated with renin-angiotensin system inhibitors. Eur J Pediatr. 2016;175:631-637.
Hayakawa I, Miura M. Giant coronary aneurysms in incomplete Kawasaki disease with early spontaneous defervescence. J Clin Rheumatol. 2016;22:40.
Fujita M, Sakabe M, Ioka T, Watanabe Y, Kinugasa-Katayama Y, Tsuchihashi T, Utset MF, Yamagishi H, Nakagawa O. Pharyngeal arch artery defects and lethal malformation of the aortic arch and its branches in mice deficient for the Hrt1/Hey1 transcription factor. Mech Dev. 2016;139:65-73.
Tokuda H, Murata M, Yashima F, Kudo M, Tsuruta H, Okamoto K, Maekawa Y, Sano M, Fukushima H, Shimizu H, Fukuda K. Periodic Protrusion of Right Coronary Cusp into Left Ventricular Outflow Tract Due to Detachment from the Aortic Annulus Complicated with Infective Endocarditis. Echocardiography. 2016;33:655-658.
＊Fukushima N, Nanao K, Fukushima H, Namera A, Miura M. A neonatal prolonged QT syndrome due to maternal use of oral tricyclic antidepressants. Eur J Pediatr. 2016;175:1129-1132.
＊Fukushima H, Takenouchi T, Kosaki K. Homozygosity for moyamoya disease risk allele leads to moyamoya disease with extracranial systemic and pulmonary vasculopathy. Am J Med Genet A. 2016;170:2453-2456.
Sano M, Kamitsuji S, Kamatani N, Tabara Y, Kawaguchi T, Matsuda F, Yamagishi H, Fukuda K. Genome-Wide Association Study of Absolute QRS Voltage Identifies Common Variants of TBX3 as Genetic Determinants of Left Ventricular Mass in a Healthy Japanese Population. PLoS One. 2016;11:e0155550.
Mori H, Park IS, Yamagishi H, Nakamura M, Ishikawa S, Takigiku K, Yasukochi S, Nakayama T, Saji T, Nakanishi T. Sildenafil reduces pulmonary vascular resistance in single ventricular physiology. Int J Cardiol. 2016;221:122-127.
Yamagishi H. Human Genetics / Truncus Arteriosus. In: Clinical Features, Human Genetics and Molecular Pathways of Congenital Heart Diseases: The Broken Heart (eds.) Sperling SR, Kelly RG, Driscoll DJ. Springer. 2016.p559-567.
Shibata A, Uchida K, Maeda J, Yamagishi H. Pulmonary arterial hypertension in patients with heterotaxy /polysplenia syndrome. In: Etiology and Morphogenesis of Congenital Heart Disease -From Gene Function and Cellular Interaction to Morphology- (eds.) Nakanishi T, Markwald RR, Baldwin HS, Keller BB, Srivastava D, Yamagishi H. Springer, 2016.p81-82(DOI 10.1007/978-4-431-54628-3_9.)
Yamagishi H, Kodo K, Maeda J, Uchida K, Tsuchihashi T, Shibata A, Ishizaki R, Yamagishi C, Srivastava D. A history and interaction of outflow progenitor cells implicated in “Takao syndrome”. In: Etiology and Morphogenesis of Congenital Heart Disease -From Gene Function and Cellular Interaction to Morphology- (eds.) Nakanishi T, Markwald RR, Baldwin HS, Keller BB, Srivastava D, Yamagishi H. Springer, 2016. p201-209 (DOI 10.1007/978-4-431-54628-3_26.)
Tsuchihashi T, Maeda J, Ishizaki R, Shibata A, Uchida K, Srivastava D, Yamagishi H. Modification of Cardiac Phenotype in Tbx1 Hypomorphic Mice. In: Etiology and Morphogenesis of Congenital Heart Disease -From Gene Function and Cellular Interaction to Morphology- (eds.) Nakanishi T, Markwald RR, Baldwin HS, Keller BB, Srivastava D, Yamagishi H. Springer, 2016. p215-217 (DOI 10.1007/978-4-431-54628-3_28.)
Uchida K, Nakazawa M, Yamagishi C, Mikoshiba K, Yamagishi H. Inositol Trisphosphate Receptors in the Vascular Development. In: Etiology and Morphogenesis of Congenital Heart Disease -From Gene Function and Cellular Interaction to Morphology- (eds.) Nakanishi T, Markwald RR, Baldwin HS, Keller BB, Srivastava D, Yamagishi H. Springer, 2016. p237-239 (DOI 10.1007/978-4-431-54628-3_32.)
Yamagishi H. Current Genetics in Congenital Heart Diseases –Perspective- In: Etiology and Morphogenesis of Congenital Heart Disease -From Gene Function and Cellular Interaction to Morphology- (eds.) Nakanishi T, Markwald RR, Baldwin HS, Keller BB, Srivastava D, Yamagishi H. Springer, 2016.p353-354
Kodo K, Ong SG, Jahanbani F, Termglinchan V, Hirono K, InanlooRahatloo K, Ebert A, Shukla P, Abilez O, Churko JM, Karakikes I, Jung G, Ichida F, Wu S, Snyder M, Bernstein D, Wu JC. iPSC-derived cardiomyocyotes reveal abnormal TGFb signaling in left ventricular non-compaction cardiomyopathy. Nat Cell Biol. 2016 (in press)
Kojima T, Yoshiba S, Kobayashi T, Kumamoto T, Cho A, Yasuhara J, Shimizu H, Sumitomo N. Successful emergent coil embolization of an inferior epigastric artery perforation in a neonate. JC Cases. 2016 (in press)
＊Kobayashi H, Mizuno Y, Takahashi T. A conservative follow-up of a fractured PICC (percutaneously inserted central venous catheter). Pediatr Int. (in press)
Miura M. Methylprednisolone pulse therapy for nonresponders to immunoglobulin therapy. In: Kawasaki disease: Current understanding of mechanism and evidence-based treatment (eds.) Kawasaki T, Saji T, Ogawa S, Hamaoka K, McCrindle B, Rowley A. Springer. 2016 (in press)
Miura M. Future research project for aortropathy. In:Aortopathy. Niwa K and Kaemmerer H. Springer. 2016 (in press)
＊Maeda J, Kosaki K, Shiono J, Kouno K, Aeba R, Yamagishi H. Variable severity of cardiovascular phenotypes in patients with an early-onset form of Marfan syndrome harboring FBN1 mutations in exons 24-32. Heart Vessels. 2016 (in press)
Nakau K, Sugimoto M, Oka H, Kajihama A, Maeda J, Yamagishi H, Kamiyama N, Tasaki Y, Kajino H, Azuma H. Pharmacokinetics of drug for pediatric pulmonary hypertension. Pediatr Int. 2016 (in press)
Uchida K, Nakazawa M, Yamagishi C, Mikoshiba K, Yamagishi H. Type 1 and 3 inositol trisphosphate receptors are required for extra-embryonic vascular development. Dev Biol. 2016 (in press) doi: 10.1016/j.ydbio.2016.08.007
Kawaida M, Abe T, Nakanishi T, Miyahara Y, Yamagishi H, Sakamoto M, Yamada T. A case of Timothy syndrome with adrenal medullary dystrophy. Pathology International. 2016 (in press) doi:10.1111/pin.12456
Hara K, Kinoshita M, Kin T, Arimitsu T, Matsuzaki Y, Ikeda K, Tomita H, Fujino A, Kuroda T. A neonate with intestinal volvulus without malrotation exhibiting early jaundice with a suspected fetal onset. The Turkish Journal of Pediatrics 2015;57:418-421.
＊Arimitsu T, Minagawa Y, Takahashi T, Ikeda K. Assessment of Developing Speech Perception in Preterm Infants Using Near-Infrared Spectroscopy. NeoReviews. 2015;16:e481-e489
Igarashi M, Mikami H, Katsumi M, Miyado M, Izumi Y, Ogata T, Fukami M. SOX3 Overdosage Permits Normal Sex Development in Females with Random X Inactivation. Sex Dev. 2015;9:125-129.
Ruiz-Arana IL, Hübner A, Cetingdag C, Krude H, Grüters A, Fukami M, Biebermann H, Köhler B. A Novel Hemizygous Mutation of MAMLD1 in a Patient with 46,XY Complete Gonadal Dysgenesis. Sex Dev. 2015;9:80-85.
Okuno M, Ogata T, Nakabayashi K, Urakami T, Fukami M, Nagasaki K. Endocrinopathies in a Boy with Cryptic Copy-number Variations on 4q, 7q, and Xp. Hum Genome Var. 2015;2:15020.
Suzuki E, Izumi Y, Chiba Y, Horikawa R, Matsubara Y, Tanaka M, Ogata T, Fukami M, Naiki Y. Loss-of-Function SOX10 Mutation in a Patient with Kallmann Syndrome, Hearing Loss, and Iris Hypopigmentation. Horm Res Pediatr. 2015;84:212-216.
Katoh-Fukui Y, Igarashi M, Nagasaki K, Horikawa R, Nagai T, Tsuchiya T, Suzuki E, Miyado M, Hata K, Nakabayashi K, Hayashi K, Matsubara Y, Baba T, Morohashi K, Igarashi A, Ogata T, Takada S, Fukami M. Testicular Dysgenesis/Regression without Campomelic Dysplasia in Patients Carrying Missense Mutations and Upstream Deletion of SOX9. Mol Genet Genom Med. 2015;3:550-557.Kagami M, Kurosawa K, Miyazaki O, Ishino F, Matsuoka K, Ogata T: Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome). Eur J Hum Genet. 2015;23:1488-1498.
Kon M, Fukami M. Submicroscopic copy-number variations associated with 46,XY disorders of sex development Mol Cell Pediatr. 2015;2:7.
Sato T, Muroya K, Asakura Y, Yachie A, Nishimura G, Aida N, Machida J, Tanaka Y, Hasegawa T, Adachi M. Polyostotic osteolysis and hypophosphatemic rickets with elevated serum fibroblast growth factor 23: A case report. Am J Med Genet A. 2015;167A:2430-2434.
Fukami M, Naiki Y, Muroya K, Hamajima T, Soneda S, Horikawa R, Jinno T, Katsumi M, Nakamura A, Asakura Y, Adachi M, Ogata T, Kanzaki S; Japanese SHOX study group. Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature. J Hum Genet. 2015;60:553-556.
Igarashi M, Wada Y, Kojima Y, Miyado M, Nakamura M, Muroya K, Mizuno K, Hayashi Y, Nonomura K, Kohri K, Ogata T, Fukami M. Novel Splice Site Mutation in MAMLD1 in a Patient with Hypospadias. Sex Dev. 2015;9:130-135.
＊Matsubara K, Kagami M, Nakabayashi K, Hata K, Fukami M, Ogata T, Yamazawa K. Exploration of hydroxymethylation in Kagami-Ogata syndrome caused by hypermethylation of imprinting control regions. Clin Epigenetics. 2015;7:90.
Oto Y, Muroya K, Hanakawa J, Asakura Y, Adachi M. The ratio of serum free triiodothyronine to free thyroxine in children: a retrospective database survey of healthy short individuals and patients with severe thyroid hypoplasia or central hypothyroidism. Thyroid Res. 2015;8:10.
Minami I, Yoshimoto T, Tsujimoto K, Homma K, Hasegawa T, Ogawa Y. A CYP3A4 inhibitor counterscts the mitotane-induced adrenal insufficiency and resistant hypertention in adrenocortical carcinoma. AACE Clin Case Reports. 2016;2:e36-e40.
Takagi M, Kouwaki M, Kawase K, Shinohara H, Hasegawa Y, Yamada T, Fujiwara I, Sawai H, Nishimura G, Hasegawa T. A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly. Am J Med Genet. 2015;167A:2851-2854.
Sato T, Muroya K, Hanakawa J, Asakura Y, Tanaka Y, Murayama K, Ohtake A, Hasegawa T, Adachi M. Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review. Eur J Pediatr. 2015;174:1593-1602.
Ishii T, Matsuo N, Sato S, Ogata T, Tamai S, Anzo M, Kamimaki T, Sasaki G, Inokuchi M, Hori N, Amano N, Narumi S, Shibata H, Hasegawa T. Human chorionic gonadotropin stimulation test in prepubertal children with micropenis can accurately predict Leydig cell function in pubertal or postpubertal adolescents. Horm Res Paediatr. 2015;84:305-310.
Asakura Y, Abe K, Muroya K, Hanakawa J, Oto Y, Narumi S, Hasegawa T, Adachi M. Combined GH and TSH deficiency in a Japanese patient with a novel frameshift mutation in IGSF1. Hor Res Pediatr. 2015;84:349-354.
Sano S, Iwata H, Matsubara K, Fukami M, Kagami M, Ogata T. Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib. Endocr J. 2015;62:523-529.
Choi JH, Balasubramanian R, Lee PH, Shaw ND, Hall JE, Plummer L, Buck CL, Kottler ML, Jarzabek K, Wołczynski S, Quinton R, Latronico AC, Dode C, Ogata T, Kim HG, Layman LC, Gusella JF, Crowley WF Jr. Two Ancient Mutations in the GNRHR Gene Expand the Founder Allelic Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. J Clin Endocrinol Metab. 2015;100:E1378-1385.
Fujisawa Y, Napoli E, Wong S, Song G, Yamaguchi R, Matsui T, Nagasaki K, Ogata T, Giulivi C Impact of a novel homozygous mutation in nicotinamide nucleotide transhydrogenase on mitochondrial DNA integrity in a case of familial glucocorticoid deficiency. BBA Clinical. 2015;3:70-78.
Nagata E, Haga N, Ohtaka K, Fujisawa Y, Fukami M, Nishimura G, Ogata T: Femoral-Tibial-Digital Malformations in a Boy with the Japanese Founder Triplication of BHLHA9. Am J Med Genet A. 2015;167A:3226-3228.
Tanaka T, Igarashi Y, Ozono K, Ohyama K, Ogawa M, Osada H, Onigata K, Kanzaki S, Kohno H, Seino Y, Takahashi H, Tajima T, Tachibana K, Tanaka H, Nishi Y, Hasegawa T, Fujita K, Yorifuji T, Horikawa R, Yokoya S. Frequencies of spontaneous breast development and spontaneous menarche in Turner syndrome in Japan. Clin Pediatr Endocrinol. 2015;24:3167-173.
Nagasaki K, Minamitani K, Anzo M, Adachi M, Ishii T, Onigata K, Kusuda S, Harada S, Horikawa R, Minagawa M, Mizuno H, Yamagami Y, Fukushi M, Tajima T. Guidelines for Mass Screening of Congenital Hypothyroidism (2014 revision). Clin Pediatr Endocrinol. 2015;24:107-133.
Miyado M, Miyado K, Katsumi M, Saito K, Nakamura A, Shihara D, Ogata T, Fukami M. Parturition failure in mice lacking Mamld1. Sci Rep. 2015;5:14705.
Yeşiltepe Mutlu G, Kırmızıbekmez H, Nakamura A, Fukami M, Hatun Ş. A Novel De Novo GATA Binding Protein 3 Mutation in a Turkish Boy with Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome. J Clin Res Pediatr Endocrinol. 2015;7:344-348.
Tonoike A, Hori Y, Inoue-Murayama M, Konno A, Fujita K, Miyado M, Fukami M, Nagasawa M, Mogi K, Kikusui T. Copy number variations in the amylase gene AMY2B in Japanese native dog breeds. Anim Genet. 2015;46:580-583.
Miyatake S, Koshimizu E, Fujita A, Fukai R, Imagawa E, Ohba C, Kuki I, Makita Y, Ogata T, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N. Detecting copy number variations in whole exome sequencing data using exome hidden markov model – an expectation of “exome-first” approach. J Hum Genet. 2015;60:175-182.
Matsushita R, Isojima T, Takaya R, Satake E, Yamaguchi R, Kitsuda K, Nagata E, Sano S, Nakanishi T, Nakagawa Y, Ohzeki T, Ogata T, Fujisawa Y. Development of waist circumference percentiles for Japanese children and an examination of their screening utility for childhood metabolic syndrome. BMC Public Health. 2015;15:1121.
Takeda R, Takagi M, Miyai K, Shinohara H, Yagi H, Moritani M, Yokota I, Hasegawa Y. A case of a Japanese patient with neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene and successfully controlled with oral glibenclamide. Clin Pediatr Endocrinol. 2015;24:191-193.
Takagi M, Nishina N, Yagi H, Hasegawa Y. Functional Characterization of c.870+3_6delGAGT Splice Site Mutation in NR5A1. Hor Res Paediatr 2015;85:65-68.
Imamura H, Muroya K, Tanaka E, Konomoto T, Moritake H, Sato T, Kimura N, Takekoshi K, Nunoi H. Sporadic paraganglioma caused by de novo SDHB mutations in a 6-year-old girl. Eur J Pediatr. 2016;175:137-141
Inokuchi M, Matsuo N, Takayama J, Hasegawa T. Waist-to-height ratio centiles by age and sex for Japanese children based on the 1978-1981 cross-sectional national survey data. Int J Obe (Lond). 2016;40:65-70.
Ito J, Narumi S, Nishizawa K, Kamimaki T, Hori N, Hasegawa T. A novel mutation of THRB Gene in a Japanese family with resistance to thyroid hormone. Clin Pediatr Endocrinol. 2016;25:19-22.
Isojima T, Sakatsume S, Hasegawa T, Ogata T, Nakanishi T, Nagai T, Yokoya S. Growth references for Japanese individuals with Noonan syndrome. Pediatr Res. 2016;79:543-548.
＊Hosokawa M, Shibata H, Ishii T, Fujino A, Kuroda T, Kosaki K, Kameyama K, Hasegawa T. A case of mature teratoma with a falsely high serum estradiol value measured with an immunoassay. J Pediatr Endocrinol Metab. 2016;29:737-739.
Yoshizawa-Ogasawara A, Abe K, Ogikubo S, Narumi S, Hasegawa T, Satoh M. Transient congenital hypothyroidism caused by compound heterozygous mutations affecting the NADPH-oxidase domain of DUOX2. J Pediatr Endocrinol Metab. 2016;29:363-371.
Saito T, Nagasaki K, Nishimura G, Wada M, Nyuzuki H, Takagi M, Hasegawa T, Amano N, Murotsuki J, Sawai H, Yamada T, Sato S, Saitoh A. Criteria for Radiological Diagnosis of Hypochondroplasia in Neonates. Pediatr Radiol. 2016;46:513-518.
＊Koyama Y, Homma K, Fukami M, Miwa M, Ikeda K, Ogata T, Murata M, Hasegawa T. Classic and non-classic 21-hydroxylase deficiency can be discriminated from P450 oxidoreductase deficiency in Japanese infants by urinary steroid metabolites. Clin Pediatr Endocrinol. 2016;25:37-44.
Takagi M, Takahashi M, Ohtsu Y, Sato T, Narumi S, Arakawa H, Hasegawa T. A novel mutation in HESX1 causes combined pituitary hormone deficiency without septo optic dysplasia phenotypes. Endocrine J. 2016;63:405-410.
Saito K, Matsuzaki T, Iwasa T, Miyado M, Saito H, Hasegawa T, Homma K, Inoue E, Miyashiro Y, Kubota T, Irahara M, Ogata T, Fukami M. Steroidogenic pathway involved in androgen biosynthesis in eumenorrheic women and patients with polycystic ovary syndrome. J Steroid Biochem Mol Biol. 2016;158:31-37.
Hanew K, Tanaka T, Horikawa R, Hasegawa T, Fujita K, Yokoya S. Women with Turner syndrome are at high risk of lifestyle-related disease –From questionnaire surveys by the Foundation for Growth Science in Japan. Endocrine J. 2016;63:449-456.
Yagi H, Takagi M, Narumi S, Hasegawa T, Nishimura G, Hasegawa Y. Stippled calcification in an infant with a recurrent SRCAP gene mutation. Am J Med Gent A.2016; 170A:1088-1091.
Sato T, Muroya K, Hanakawa J, Yamashita S, Nozawa K, Masudo K, Yamanaka T, Asakura Y, Hasegawa T. Adachi M. Potential utility of cinacalcet as a treatment for CDC73-related primary hyperparathyroidism: a case report. Clin Pediatr Endocrinol. 2016;25:91-98.
Narumi S, Amano N, Ishii T, Katsumata N, Muroya K, Adachi M, Toyoshima K, Tanaka Y, Fukuzawa R, Miyako K, Kinjo S, Ohga S, Ihara K, Inoue H, Kinjo T, Hara T, Kohno M, Yamada S,Urano H, Kitagawa Y, Tsugawa K, Higa A, Miyawaki M, Okutani T, Kizaki Z, Hamada H, Kihara M, Shiga K, Yamaguchi T, Kenmochi M, Kitajima H, Fukami M, Shimizu A, Kudoh J, Shibata S, Okano H, Miyake N, Mastumoto N, Hasegawa T. SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7. Nat Genet. 2016;48:792-797.
Ishii T, Fukuzawa R, Sato T, Muroya K, Adachi M, Ihara K, Igaki J, Hasegawa Y, Sato S, Mitsui T, Hasegawa T. Gonadal macrophage infiltration in congenital lipoid adrenal hyperplasia. Eur J Endocrinol. 2016;175:127-132.
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. J Hum Genet. 2016;61:585-591.
Takagi M, Shimizu N, Suzuki E, Shinohara H, Narumi S, Hasegawa T, Nishimura G, Hasegawa Y. Whole exome sequencing identified a novel COL2A1 mutation that causes mild spondylo-epiphyseal dysplasia mimicking autosomal dominat brachyolmia. Am J Med Genet A. 2016;170:795-798.
＊Fujita H, Shinjoh M, Ishii T, Awazu M. Utility of fractional excretion of urea in the differential diagnosis of acute kidney injury in children. Pediatr Nephrol. 2016;31:1349-1353
Matsubara K, Murakami N, Fukami M, Kagami M, Nagai T, Ogata T. Risk assessment of medically assisted reproduction and advanced maternal ages in the development of Prader-Willi syndrome due to UPD(15)mat. Clin Genet. 2016;89:614-619.
Kon M, Saito K, Mitsui T, Miyado M, Igarashi M, Moriya K, Nonomura K, Shinohara N, Ogata T, Fukami M. Copy-Number Variations of the Azoospermia Factor Region or SRY Are Not Associated with the Risk of Hypospadias. Sex Dev. 2016;10:12-15.
Maruo Y, Nagasaki K, Matsui K, Mimura Y, Mori A, Fukami M, Takeuchi Y. Natural course of congenital hypothyroidism by dual oxidase 2 mutations from the neonatal period through puberty Eur J Endocrinol. 2016;174:453-463.
Saito K, Matsuzaki T, Iwasa T, Miyado M, Saito H, Hasegawa T, Homma K, Inoue E, Miyashiro Y, Kubota T, Irahara M, Ogata T, Fukami M. Steroidogenic pathways involved in androgen biosynthesis in eumenorrheic women and patients with polycystic ovary syndrome. J Steroid Biochem Mol Biol. 2016;158:31-37.
Fujisawa Y, Sakaguchi K, Ono H, Yamaguchi R, Kato F, Kagami M, Fukami M, Ogata T. Combined Steroidogenic Characters of Fetal Adrenal and Leydig Cells in Childhood Adrenocortical Carcinoma. J Steroid Biochem Mol Biol. 2016;159:86-93.
Okuno M, Yorifuji T, Kagami M, Ayabe T, Urakami T, Kawamura T, Kikuchi N, Yokota I, Kikuchi T, Amemiya S, Suzuki J, Ogata T,Sugihara S, Fukami M, and The Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes (JSGIT). Chromosome 6q24 methylation defects are uncommon in childhood-onset non-autoimmune diabetes mellitus patients born appropriate- or large-for-gestational age. Clin Pediatr Endocrinol. 2016;25:99-102.
Saito K, Matsuzaki T, Iwasa T, Miyado M, Saito H, Kubota T, Irahara M, Ogata T, Fukami M. Blood allopregnanolone in patients with polycystic ovary syndrome. Clin Endocrinol. 2016;85:151-152.
Yokoi T, Nishina S, Fukami M, Ogata T, Hosono K, Hotta Y, Azuma N. Genotype-phenotype correlation of PAX6 gene mutations in aniridia. Hum Genome Var. 2016;3:15052.
Nakamura A, Hamaguchi E, Horikawa R, Nishimura Y, Matsubara K, Sano S, Nagasaki K, Matsubara Y, Umezawa A, Tajima T, Ogata T, Kagami M, Okamura K, Fukami M. Complex Genomic Rearrangement within the GNAS Region Associated with Familial Pseudohypoparathyroidism Type 1b. J Clin Endocrinol Metab. 2016;101:2623-2627.
Yaoita M, Niihori T, Mizuno S, Okamoto N, Hayashi S, Watanabe A, Yokozawa M, Suzumura H, Nakahara A, Nakano Y, Hokosaki T, Ohmori A, Sawada H, Migita O, Mima A, Lapunzina P, Santos F, Garcia S, Ogata T, Kawame H, Kurosawa K, Ohashi H, Inoue S, Matsubara Y, Kure S, Aoki Y. Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. Hum Genet. 2016;135:209-222.
Asahina M, Endoh Y, Matsubayashi T, Fukuda T, Ogata T. Novel RAB3GAP1 compound heterozygous mutations in Japanese siblings with Warburg Micro syndrome. Brain Dev. 2016;38:337-340.
Ogata T, Kagami M. Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region. J Hum Genet. 2016;61:87-94.
Miyoshi Y, Yorifuji T, Horikawa R, Takahashi I, Nagasaki K, Ishiguro H, Fujiwara I, Ito J, Oba M, Kawamoto H, Fujisaki H, Kato M, Shimizu C, Kato T, Matsumoto K, Sago H, Takimoto T, Okada H, Suzuki N, Yokoya S, Ogata T, Ozono K. Gonadal function, fertility, and reproductive medicine in childhood and adolescent cancer patients: a national survey of Japanese pediatric endocrinologists. Clin Pediatr Endocrinol. 2016;25:45-57.
Hachiya R, Shiihashi T, Shirakawa I, Iwasaki Y, Matsumura Y, Oishi Y, Nakayama Y, Miyamoto Y, Manabe I, Ochi K, Tanaka M, Goda N, Sakai J, Suganami T, Ogawa Y. The H3K9 methyltransferase Setdb1 regulates TLR4-mediated inflammatory responses in macrophages. Sci Rep.2016;6:28845.
Shimada A, Takagi M, Nagashima Y, Miyai K, Hasegawa Y. A Novel Mutation in OTX2 Causes Combined Pituitary Hormone Deficiency, Bilateral Microphthalmia, and Agenesis of the Left Internal Carotid Artery. Horm Res Paediatr. 2016;86:62-69.
Higuchi S, Takagi M, Shimomura S, Nishimura G, Hasegawa Y. A Japanese familial case of Schmid metaphyseal chondrodysplasia with a novel mutation in COL10A1. Clin Pediatr Endocrinol. 2016;25:107-110.
Nagahara K, Harada Y, Futami T, Takagi M, Nishimura G, Hasegawa Y. A Japanese familial case of hypochondroplasia with a novel mutation in FGFR3. Clin Pediatr Endocrinol. 2016 25:103-106.
Goto M, Shibata N, Hasegawa Y. Efficacy of single serum cortisol reading obtained between 9 AM and 10 AM as an index of adrenal function in children treated with glucocorticoids or synthetic adrenocorticotropic hormone. Clin Pediatr Endocrinol. 2016; 25:83-89.
Fukuma M, Ariyasu D, Hatano M, Yaji H, Hasegawa Y. Early-onset urological disorders due to Wolfram syndrome: A case of neonatal onset. Clin Pediatr Endocrinol. 2016; 25:67-69.
Christiansen JS, Backeljauw PF, Bidlingmaier M, Biller BMK, Boguszewski MCS, Casanueva FF, Chanso P, Chatelain P, Choong CS, Clemmons DR, Cohen LE, Cohen P, Frystyk J, Grimberg A, Hasegawa Y, Haymond MW, Ho K, Hoffman AR, Holly JM, Horikawa R, Hoybye C, Jorgensen JOL, Johannsson G, Juul A, Katznelson L, Kopchick JJ, Lee K-o, Lee KW, Luo X-p, Melmed S, Miller, B Misra M, Popović V, Rosenfeld RG, Ross J, Ross RJ, Saenger, P Strasburger CJ, Thorner MO, Werner H, Yuen KC: Growth Hormone Research Society Perspective on the Development of Long-Acting Growth Hormone Preparations. Euro J Endocrinol. 2016;174:c1-8.
＊Fukushima N, Nanao K, Fukushima H, Namera A, Miura M. A neonatal prolonged QT syndrome due to maternal use of oral tricyclic antidepressants. Eur J Pediatr. 2016;175:1129-32.
Takagi M, Shinohara H, Nagashima Y, Hasegawa Y, Narumi S, Hasegawa T. A Novel Dominant Negative Mutation in the Intracellular Domain of GHR is Associated with Growth Hormone Insensitivity. Clin Endocrinol (in press)
＊Mitani M, Furuichi M, Narumi S, Hasegawa T, Chiga M, Uchida S, Sato S. A KLHL3 Mutation-Carrying Patient with Pseudohypoaldosteronism Type II Complicated by Congenital Hypopituitarism. Clin Pediat Endocrinol (in press)
Ogata T, Muroya K, Hasegawa T. Long-term clinical course in three patients with MAMLD1 mutations. Endocrine J (in press)
Takagi M, Miyoshi T, Nagashima Y, Shibata N, Yagi H, Hasegawa T, Fukuzawa R. Hartsfield Syndrome due to a Novel Heterozygous Mutation in the Extracellular Domain of FGFR1 Hum Genome Var (in press)
Hiyama T, Utsunomiya A, Matsumoto M, Fujikawa A, Lin C-H, Hara K, Kagawa R, Okada S, Kobayashi M, Ishikawa M, Anzo M, Cho H, Takayasu S, Nigawara T, Daimon M, Sato T, Yerui K, Ito E, Noda M. Adipsic hypernatremia without hypothalamic lesions accompanied by autoantibodies to subfornical organ. Brain Pathol (in press)
Fukuzawa R, Nishina-Uchida N, Ishii T, Hasegawa Y, Anaka M, Hasegawa T. The distribution and cellular lineages of XX and XY cells in gonads associated with ovotesticular disorder of sexual development. Sex Dev (in press).
Sano S, Matsubara K, Nagasaki K, Kikuchi T, Nakabayashi K, Hata K, Fukami M, Kagami M, Ogata T. Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus methylation defects: a female-dominant phenomenon. J Hum Genet (in press)
Naiki Y, Miyado M, Horikawa R, Katsumata N, Onodera M, Pang S, Ogata T, Fukami M. Extra-Adrenal Induction of Cyp21a1 Ameliorates Systemic Steroid Metabolism in a Mouse Model of Congenital Adrenal Hyperplasia. Endocr J. (in press)
Ayabe T, Fukami M, Ogata T, Kawamura T, Urakami T, Kikuchi N, Yokota I, Ihara K, Takemoto K, Mukai T, Nishii A, Kikuchi T, Mori T, Shimura N, Sasaki G, Kizu R, Takubo N, Soneda S, Fujisawa T, Takaya R, Kizaki Z, Kanzaki S, Hanaki K, Matsuura N, Kasahara Y, Kosaka K, Takahashi T, Minamitani K, Matsuo S, Mochizuki H, Kobayashi K, Koike A, Horikawa R, Teno S, Tsubouchi K, Mochizuki T, Igarashi Y, Amemiya S, Sugihara S. Variants associated with autoimmune Type 1 diabetes in Japanese children: implications for age-specific effects of cis-regulatory haplotypes at 17q12-q21. Diabet Med. (in press)
Miyamichi D, Asahina M, Nakajima J, Sato M, Hosono K, Nomura T, Negishi T, Miyake N, Hotta Y, Ogata T, Matsumoto N. Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism. J Hum Genet (in press)
Luk H-M, Lo F-M I, Sano S, Matsubara K, Nakamura A, Ogata T, Kagami M. Silver-Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis. Am J Med Genet A (in press)
Marchini A, Ogata T, Rappold GA. A track record on SHOX: from basic research to complex models and therapy. Endocr Rev (in press)
Yanase T, Tajima T, Katabami T, Iwasaki Y, Tanahashi Y, Sugawara A, Hasegawa T, Mune T, Oki Y, Nakagawa Y, Miyamura N, Shimizu C, Otsuki M, Nomura M, Akehi Y, Tanabe M, Kasayama S. Diagnosis and treatment of adrenal insufficiency including adrenal crisis: a Japan Endocrine Society clinical practice guideline. Endorine J (in press)
Takagi M, Takeda R, Yagi H, Ariyasu D, Fukuzawa R, Hasegawa T. A case of transient neonatal diabetes due to a novel mutation in ABCC8. Clin Pediatr Endocrinol (in press).
Takishima S, Nakajima K, Nomura R, Tsuji-Hosokaw a 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. Endocrine J. (in press)
Hatano M, Migita T, Ohishi T, Shima Y, Ogawa Y, Morohashi K-I, Hasegawa Y, Shibasaki F. SF-1 deficiency causes lipid accumulation in Leydig cells via suppression of STAR and CYP11A1. Endocrine. (in press)
＊Kobayashi H, Mizuno Y, Takahashi T. A conservative follow-up of a fractured PICC (percutaneously inserted central venous catheter). Pediatr Int. (in press)
＊Takenouchi T, Kosaki R, Niizuma T, Hata K, Kosaki K. Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay. Am J Med Genet A. 2015;167A:2822-5.
Harini C, Nagarajan E, Kimia AA, de Carvalho RM, An S, Bergin AM, Takeoka M, Pearl PL, Loddenkemper T. Utility of initial EEG in first complex febrile seizure. Epilepsy Behav. 2015;52(Pt A):200-4.
Aravamuthan BR, Sánchez Fernández I, Zurawski J, Olson H, Gorman M, Takeoka M. Pediatric anti-Hu-associated encephalitis with clinical features of Rasmussen encephalitis. Neurol Neuroimmunol Neuroinflamm. 2015;2:e150.
＊Shinjoh M, Sugaya N, Yamaguchi Y, Tomidokoro Y, Sekiguchi S, Mitamura K, Fujino M, Shiro H, Komiyama O, Taguchi N, Nakata Y, Yoshida N, Narabayashi A, Myokai M, Sato M, Furuichi M, Baba H, Fujita H, Sato A, Ookawara, I , Tsunematsu K, Yoshida M, Kono M, Tanaka F, Kawakami C, Kimiya T, Takahashi T, Iwata S. Keio Pediatric Influenza Research Group. Effectiveness of trivalent inactivated influenza vaccine in children estimated by a test-negative case-control design study based on influenza rapid diagnostic test. PLOS ONE. 2015;10:e0136539.:
＊Arimitsu T, Minagawa Y, Takahashi T, Ikeda K. Assessment of Developing Speech Perception in Preterm Infants Using Near-Infrared Spectroscopy. NeoReviews. 2015;16:e481-e489
Nakashima M, Kouga T, Lourenço CM, Shiina M, Goto T, Tsurusaki Y, Miyatake S, Miyake N, Saitsu H, Ogata K, Osaka H, Matsumoto N. De novo DNM1 mutations in two cases of epileptic encephalopathy. Epilepsia. 2016;57:e18-23.
＊Matsui Y, Takenouchi T, Narabayashi A, Ohara K, Nakahara T, Takahashi T. Childhood Sjögren syndrome presenting as acute brainstem encephalitis. Brain Dev. 2016;38:158-62.
Mitsuhashi T, Takahashi T. Proliferation and differentiation characteristics of neural stem cells during course of cerebral cortical histogenesis. Congenit Anom (Kyoto). 2016;56:6-11.
Hayakawa I, Miyama S, Inoue N, Sakakibara H, Hataya H, Terakawa T. Epidemiology of pediatric convulsive status epilepticus with fever in the emergency department: A cohort study of 381 consecutive cases. J Child Neurol. 2016;31:1257-64.
Al-Maawali A, Barry BJ, Rajab A, El-Quessny M, Seman A, Coury SN, Barkovich AJ, Yang E, Walsh CA, Mochida GH, Stoler JM. Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. Am J Med Genet A. 2016;170A:435-40.
Nariai H, Price DE, Jada A, Weintraub L, Weidenheim KM, Gomes WA, Levy AS, Abbott R, Malbari F. Prenatally diagnosed aggressive intracranial immature teratoma-clinicopathological correlation. Fetal Pediatr Pathol. 2016;35:260-4.
Nariai H, Mittelmann E, Farmakidis C, Zampolin RL, Robbins MS. Bithalamic dysfunction in Wernicke’s encephalopathy. Einstein J Biol Med. 2016;E1-3 (published online)
Straub C, Noam Y, Nomura T, Yamasaki M, Yan D, Fernandes HB, Zhang P, Howe JR, Watanabe M, Contractor A, Tomita S. Distinct Subunit Domains Govern Synaptic Stability and Specificity of the Kainate Receptor. Cell Rep. 2016;16:531-44.
Kawabata S, Takano M, Numasawa-Kuroiwa Y, Itakura G, Kobayashi Y, Nishiyama Y, Sugai K, Nishimura S, Iwai H, Isoda M, Shibata S, Kohyama J, Iwanami A, Toyama Y, Matsumoto M, Nakamura M, Okano H. Grafted Human iPS Cell-Derived Oligodendrocyte Precursor Cells Contribute to Robust Remyelination of Demyelinated Axons after Spinal Cord Injury. Stem Cell Reports. 2016;6:1-8.
Abe Y, Sakai T, Okumura A, Akaboshi S, Fukuda M, Haginoya K, Hamano S, Hirano K, Kikuchi K, Kubota M, Lee S, Maegaki Y, Sanefuji M, Shimozato S, Suzuki M, Suzuki Y, Takahashi M, Watanabe K, Mizuguchi M, Yamanouchi H. Manifestations and characteristics of congenital adrenal hyperplasia-associated encephalopathy. Brain Dev. 2016;38:638-47.
＊Takenouchi T, Okamoto N, Ida S, Uehara T, Kosaki K. Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia. Am J Med Genet A. 2016;170A:852-5.
Pinto AL, Chen L, Friedman R, Grant PE, Poduri A, Takeoka M, Prabhu SP, Sahin M. Sturge-Weber syndrome: brain magnetic resonance imaging and neuropathology findings. Pediatr Neurol. 2016;58:25-30.
Kojima K, Anzai R, Ohba C, Goto T, Miyauchi A, Thöny B, Saitsu H, Matsumoto N, Osaka H, Yamagata T. A female case of aromatic L-amino acid decarboxylase deficiency responsive to MAO-B inhibition. Brain Dev. (in press)
＊Kojima K, Rosenberg M, English K. Sore throat and fever in a 4-year-old boy. Pediatr Rev. (in press)
Ouyang Q, Nakayama T, Baytas O, Davidson SM, Yang C, Schmidt M, Lizarraga SB, Mishra S, EI-Quessny M, Niaz S, Butt MG, Murtaza SI, Javed A, Chaudhry HR, Vaughan DJ, Hill RS, Partlow JN, Yoo SY, Lam ATN, Nasir R, Al-Saffar M, Barkovich AJ, Schwede M, Nagpal S, Rajab A, DeBerardinis RJ, Housman DE, Mochida GH, Morrow EM. Mutations in Mitochondrial Enzyme GPT2 Cause Metabolic Dysfunction and Neurological Disease with Developmental and Progressive Features. Proc Natl Acad Sci. 2016 (in press)
Sato R, Takanashi J, Tsuyusaki Y, Kato M, Saitsu H, Matsumoto N, Takahashi T. Association between Invisible Basal Ganglia and ZNF335 Mutations: a Case Report. Pediatrics. (in press)
＊Takenouchi T, Miura K, Uehara T, Mizuno S, Kosaki K. Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype. Am J Med Genet. 2016 (in press)
＊Takenouchi T, Kosaki K. Jacobsen Syndrome, Braddock-Carey Syndrome and Beyond: Reflections on Intellectual Disability Accompanied with Thrombocytopenia. Am J Med Genet. 2016 (in press)
＊Takenouchi T, Yoshihashi H, Sakaguchi Y, Uehara T, Honda M, Takahashi T, Kosaki K, Miyama S. Hirschsprung Disease as a Yet Undescribed Phenotype in a Patient with ARID1B Mutation. Am J Med Genet. 2016 (in press)
＊Fukushima H, Takenouchi T, Kosaki K. Homozygosity for moyamoya disease risk allele leads to moyamoya disease with extracranial systemic and pulmonary vasculopathy. Am J Med Genet. 2016;170:2453-6
Fujimura K, Mitsuhashi T, Shibata S, Shimozato S, Takahashi T. In utero exposure to valproic acid induces neocortical dysgenesis via dysregulation of neural progenitor cell proliferation/differentiation. J Neurosci. (in press)
Yoshikawa N, Nakazato H, Sasaki S, Nakanishi K, Matsuyama T, Ito S, Hamasaki Y, Yata N, Ando T, Iijima K, Honda M. Morbidity in children with frequently relapsing nephrosis: 10-year follow-up of a randomized controlled trial. Pediatr Nephrol. 2015;30:459-68.
Yanagihara T, Hamada R, Ishikura K, Uemura O, Matsuyama T, Takahashi S, Honda M. Urinary screening and urinary abnormalities in 3-year-old children in Japan.Pediatr Int. 2015;57:354-358.
Matsushita S, Ishikura K, Okamoto S, Okuda Y, Nagaoka Y, Harada R, Hamada R, Sakai T, Hamasaki Y, Hataya H, Ando T, Ogata K, Honda M, Long-term morbidity of IgA nephropathy in children evaluated with newly proposed remission criteria in Japan. Clin Exp Nephrol. 2015;19:1149-1156.
Yoshino A, Honda M, Sasaki N, Hataya H, Ishikura K, Sakazume S, Tanaka Y, Nagai T. Selection of infants who potentially have congenital anomalies of the kidney and urinary tract from a large cohort for a more thorough examination. Clin Exp Nephrol. 2015;19: 678-682.
Uemura O, Nagai T, Ishikura K, Ito S, Hataya H, Gotoh Y, Fujita N, Akioka Y, Kaneko T, Honda M. Reference glomerular filtration rate levels in Japanese children: using the creatinine and cystatin C based estimated glomerular filtration rate. Clin Exp Nephrol. 2015; 19:683-687.
Hirano D, Ishikura K, Uemura O, Ito S, Wada N, Hattori M, Ohashi Y, Hamasaki Y, Tanaka R, Nakanishi K, Kaneko T, Honda M. Association between low birth weight and childhood-onset chronic kidney disease in Japan: a combined analysis of a nationwide survey for paediatric chronic kidney disease and the National Vital Statistics Report.Pediatric CKD Study Group in Japan in conjunction with the Committee of Measures for Pediatric CKD of the Japanese Society of Pediatric Nephrology.Nephrol Dial Transplant. 2015 Dec 29 [Epub ahead of print]
Uda K, Hataya H. Ulceration at Bacillus Calmette-Guérin Inoculation Site in a Patient with Kawasaki Disease. Journal of Pediatrics. 2015;167:1167.
Hayakawa I, Hataya H, Yamanouchi H, Sakakibara H, Terakawa T. Neonatal Staphylococcus lugdunensis urinary tract infection. Pediatr Int. 2015;57:783-785.
Kamei K, Ishikura K. Rituximab treatment for refractory steroid-resistant nephrotic syndrome. Pediatr Nephrol. 2016;31:337-8.
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;15:11(3).
＊Terano C, Ishikura K, Miura M, Hamada R, Harada R, Sakai T, Hamasaki Y, Hataya H, Ando T, Honda M. Incidence of and risk factors for severe acute kidney injury in children with heart failure treated with renin-angiotensin system inhibitors. Eur J Pediatr. 2016; 175:631-637.
Ishikura K, Uemura O, Hamasaki Y, Nakai H, Ito S, Harada R, Hattori M, Ohashi Y, Tanaka R, Nakanishi K, Kaneko T, Iijima K, Honda M; Pediatric CKD Study Group in Japan in conjunction with the Committee of Measures for Pediatric CKD of the Japanese Society for Pediatric Nephrology. Insignificant impact of VUR on the progression of CKD in children with CAKUT. Pediatr Nephrol. 2016;31:105-112.
Inaba A, Hamasaki Y, Ishikura K, Hamada R, Sakai T, Hataya H, Komaki F, Kaneko T, Mori M, Honda M. Long-term outcome of idiopathic steroid-resistant nephrotic syndrome in children. Pediatr Nephrol. 2016;31:425-434.
Inaba A, Hamasaki Y, Ishikura K, Kaneko T. Long-term outcome of idiopathi steroid-resistant nephrotic syndrome in children: response to comments. Pediatr Nephrol. 2016;31:511-512.
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.
Kato H, Nangaku M, Hataya H, Sawai T, Ashida A, Fujimaru R, Hidaka Y, Kaname S, Maruyama S, Yasuda T, Yoshida Y, Ito S, Hattori M, Miyakawa Y, Fujimura Y, Okada H, Kagami S. Clinical guides for atypical hemolytic uremic syndrome in Japan. Pediatr Int. 2016;58:549-555.
Ito N, Hataya H, Saida K, Amano Y, Hidaka Y, Motoyoshi Y, Ohta T, Yoshida Y, Terano C, Iwasa T, Kubota W, Takada H, Hara T, Fujimura Y, Ito S. Efficacy and safety of eculizumab in childhood atypical hemolytic uremic syndrome in Japan. Clin Exp Nephrol. 2016;20: 265-272.
Uemura O, Nagai T, Ishikura K, Ito S, Honda M. Mean and standard deviation of reference glomerular filtration rate values in Japanese children. Clin Exp Nephrol. 2016;20: 317-318.
Kato H, Nangaku M, Hataya H, Sawai T, Ashida A, Fujimaru R, Hidaka Y, Kaname S, Maruyama S, Yasuda T, Yoshida Y, Ito S, Hattori M, Miyakawa Y, Fujimura Y, Okada H, Kagami S. Clinical guides for atypical hemolytic uremic syndrome in Japan. Clin Exp Nephrol. 2016;20:536-543.
Okuda Y, Ishikura K, Terano C, Harada R, Hamada R, Hataya H, Ogata K, Honda M. Irreversible severe kidney injury and anuria in a 3-month-old girl with atypical haemolytic uraemic syndrome under administration of eculizumab. Nephrology (Carlton). 2016;21: 261-265.
Hayakawa I, Hataya H, Kaneko T. Choledocholithiases in a child with Hemoglobin Evans [alpha2 62(E11) Val→Met]. Clin Case Rep. 2016;4:661-663.
Fujita H, Matsuoka S, Awazu M. White-Coat and Reverse White-Coat Effects Correlate with 24-h Pulse Pressure and Systolic Blood Pressure Variability in Children and Young Adults. Pediatr Cardiol. 2016;37:345-352.
＊Fujita H, Shinjoh M, Ishii T, Awazu M. Utility of fractional excretion of urea in the differential diagnosis of acute kidney injury in children. Pediatr Nephrol. 2016; 31:1349-1353.
Ozaki KI, Awazu M, Tamiya M, Iwasaki Y, Harada A, Kugisaki S, Tanimura S, Kohno M.Targeting the ERK signaling pathway as a potential treatment for insulin resistance and type 2 diabetes. Am J Physiol Endocrinol Metab. 2016 Feb 9 [Epub ahead of print]
＊Hayakawa I, Miyama S, Inoue N, Sakakibara H, Hataya H, Terakawa T. Epidemiology of Pediatric Convulsive Status Epilepticus With Fever in the Emergency Department: A Cohort Study of 381 Consecutive Cases. J Child Neurol. 2016 Jun [Epub ahead of print]
Sakai T, Murakami Y, Okuda Y, Hamada R, Hamasaki Y, Ishikura K, Hataya H, Honda M. Prolonged respiratory disorder predicts adverse prognosis in infants with end-stage kidney disease. Pediatr Nephrol. 2016 Jun. [Epub ahead of print]
Okubo Y, Nochioka K, Hataya H, Sakakibara H, Terakawa T, Testa M. Burden of Obesity on Pediatric Inpatients with Acute Asthma Exacerbation in the United States. J Allergy Clin Immunol Pract. 2016 Jun [Epub ahead of print]
Kikunaga K, Ishikura K,Terano C, Sato M, Komaki F, Hamasaki Y, Sasaki S, Iijima K, Yoshikawa N, Nakanishi K, Nakazato H, Matsuyama T, Ando T, Ito S, Honda M. High incidence of idiopathicnephrotic syndrome in East Asian children: a nationwide survey in Japan (JP-SHINE Study). Clin Exp Nephrol 2016 (in press)
Nagao A, Oka T, Hanabusa H. Switching to low dose of plasma-derived factor VIII/vWF concentrates with Confact(®) -F as salvage immune tolerance induction in haemophilia A patients with inhibitors: five case reports from Japan. Haemophilia. 2015;21:e425-7.
Tokumasu M, Murata C, Shimada A, Ohki K, Hayashi Y, Saito AM, Fujimoto J, Horibe K, Nagao M, Itoh H, Kamikubo Y, Nakayama H, Kinoshita A, Tomizawa D, Taga T, Tawa A, Tanaka S, Heike T, Adachi S. Adverse prognostic impact of KIT mutations in childhood CBF-AML: the results of the Japanese Pediatric Leukemia/Lymphoma Study Group AML-05 trial. Leukemia. 2015;29:2438-41.
Keino D, Tsuzuki Y, Mori T, Kakuage S, Nakano M, Asoh K, Mori T, Kinoshita A, Yamamoto H. Infective endocarditis associated with acute leukemia: Report of two cases. Pediatr Int. 2015;57:1017-20.
Morimoto A, Shioda Y, Imamura T, Kudo K, Kawaguchi H, Sakashita K, Yasui M, Koga Y, Kobayashi R, Ishii E, Fujimoto J, Horibe K, Bessho F, Tsunematsu Y, Imashuku S. Intensified and prolonged therapy comprising cytarabine, vincristine and prednisolone improves outcome in patients with multisystem Langerhans cell histiocytosis: results of the Japan Langerhans Cell Histiocytosis Study Group-02 Protocol Study. Int J Hematol. 2016;104:99-109.
Shima M, Hanabusa H, Taki M, Matsushita T, Sato T, Fukutake K, Fukazawa N, Yoneyama K, Yoshida H, Nogami K. Factor VIII-Mimetic Function of Humanized Bispecific Antibody in Hemophilia A. N Engl J Med. 2016;374:2044-53.
Young G, Collins PW, Colberg T, Chuansumrit A, Hanabusa H, Lentz SR, Mahlangu J, Mauser-Bunschoten EP, Négrier C, Oldenburg J, Patiroglu T, Santagostino E, Tehranchi R, Zak M, Karim FA. Nonacog beta pegol (N9-GP) in haemophilia B: A multinational phase III safety and efficacy extension trial (paradigm™4). Thromb Res. 2016;141:69-76.
Negrier C, Young G, Abdul Karim F, Collins PW, Hanabusa H, Colberg T, Goldman B, Walsh CE; paradigm™ 2 and 4 Investigators. Recombinant long-acting glycoPEGylated factor IX (nonacog beta pegol) in haemophilia B: assessment of target joints in multinational phase 3 clinical trials. Haemophilia. 2016;22:507-13.
Santagostino E, Martinowitz U, Lissitchkov T, Pan-Petesch B, Hanabusa H, Oldenburg J, Boggio L, Negrier C, Pabinger I, von Depka Prondzinski M, Altisent C, Castaman G, Yamamoto K, Álvarez-Roman MT, Voigt C, Blackman N, Jacobs I; PROLONG-9FP Investigators Study Group. Long-acting recombinant coagulation factor IX albumin fusion protein (rIX-FP) in hemophilia B: results of a phase 3 trial. Blood. 2016;127:1761-9.
Nolan B, Mahlangu J, Perry D, Young G, Liesner R, Konkle B, Rangarajan S, Brown S, Hanabusa H, Pasi KJ, Pabinger I, Jackson S, Cristiano LM, Li X, Pierce GF, Allen G. Long-term safety and efficacy of recombinant factor VIII Fc fusion protein (rFVIIIFc) in subjects with haemophilia A. Haemophilia. 2016;22:72-80.
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;63:1394-9.
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;174:437-43.
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;103:416-22.
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 in Down Syndrome: A Nationwide Prospective Study in Japan. Pediatr Blood Cancer. 2016;63:248-54.
Tsurusawa M, Watanabe T, Gosho M, Mori T, Mitsui T, Sunami S, Kobayashi R, Fukano R, Tanaka F, Fujita N, Inada H, Sekimizu M, Koh K, Kosaka Y, Komada Y, Saito AM, Nakazawa A, Horibe K; lymphoma committee of the Japanese Pediatric Leukemia/lymphoma Study Group. Randomized study of granulocyte colony stimulating factor for childhood B-cell non-Hodgkin lymphoma: a report from the Japanese pediatric leukemia/lymphoma study group B-NHL03 study. Leuk Lymphoma. 2016;57:1657-64.
Sunami S, Sekimizu M, Takimoto T, Mori T, Mitsui T, Fukano R, Saito AM, Watanabe T, Ohshima K, Fujimoto J, Nakazawa A, Kobayashi R, Horibe K, Tsurusawa M. Prognostic Impact of Intensified Maintenance Therapy on Children With Advanced Lymphoblastic Lymphoma: A Report From the Japanese Pediatric Leukemia/Lymphoma Study Group ALB-NHL03 Study. Pediatr Blood Cancer. 2016;63:451-7.
Imamura T, Kiyokawa N, Kato M, Imai C, Okamoto Y, Yano M, Ohki K, Yamashita Y, Kodama Y, Saito A, Mori M, Ishimaru S, Deguchi T, Hashii Y, Shimomura Y, Hori T, Kato K, Goto H, Ogawa C, Koh K, Taki T, Manabe A, Sato A, Kikuta A, Adachi S, Horibe K, Ohara A, Watanabe A, Kawano Y, Ishii E, Shimada H. Characterization of pediatric Philadelphia-negative B-cell precursor acute lymphoblastic leukemia with kinase fusions in Japan. Blood Cancer J. 2016;6:e419.
Aoki T, Koh K, Ikeda Y, Sekinaka Y, Akiyama K, Mori M, Arakawa Y, Hanada R. Addition of High-Dose Cytarabine to Fludarabine-Based Conditioning for Hematopoietic Stem Cell Transplantation for Treating Fanconi Anemia Patients with Advanced Myeloid Malignancy: A Single-Center Experience and Literature Review. Biol Blood Marrow Transplant. 2016;22:1725-8.
Aoki T, Koh K, Kawano Y, Mori M, Arakawa Y, Kato M, Hanada R. Safety of Live Attenuated High-Titer Varicella-Zoster Virus Vaccine in Pediatric Allogeneic Hematopoietic Stem Cell Transplantation Recipients. Biol Blood Marrow Transplant. 2016;22:771-5.
Attarbaschi A, Carraro E, Abla O, Barzilai-Birenboim S, Bomken S, Brugieres L, Bubanska E, Burkhardt B, Chiang AK, Csoka M, Fedorova A, Jazbec J, Kabickova E, Krenova Z, Lazic J, Loeffen J, Mann G, Niggli F, Miakova N, Osumi T, Ronceray L, Uyttebroeck A, Williams D, Woessmann W, Wrobel G, Pillon M. Non-Hodgkin’s lymphoma and pre-existing conditions: spectrum, clinical characteristics and outcome in 213 children and adolescents. Haematologica. 2016 (in press)
Osumi T, Mori T, Fujita N, Saito AM, Nakazawa A, Tsurusawa M, Kobayashi R. Relapsed/refractory pediatric B-cell non-Hodgkin lymphoma treated with rituximab combination therapy: A report from the Japanese Pediatric Leukemia/Lymphoma Study Group. Pediatr Blood Cancer. 2016 [Epub ahead of print]
Shimasaki N, Coustan-Smith E, Kamiya T, Campana D. Expanded and armed natural killer cells for cancer treatment. Cytotherapy. 2016 [Epub ahead of print]
Yoshihara H, Kamiya T, Hosoya Y, Hasegawa D, Ogawa C, Asanuma H, Mizuno R, Hosoya R, Manabe A. Ewing sarcoma/primitive neuroectodermal tumor of the kidney treated with chemotherapy including ifosfamide. Pediatr Int. 2016 [Epub ahead of print]
Tanaka Y, Kawashima H, Mori M, Fujiogi M, Suzuki K, Amano H, Morita K, Arakawa Y, Koh K, Oguma E, Iwanaka T, Uchida H. Contraindications and image-defined risk factors in laparoscopic resection of abdominal neuroblastoma. Pediatr Surg Int. 2016 [Epub ahead of print]
Shinkoda Y, Shirahata A, Fukutake K, Takamatsu J, Shima M, Hanabusa H, Mugishima H, Takedani H, Kawasugi K, Taki M, Matsushita T, Tawa A, Nogami K, Higasa S, Kosaka Y, Fujii T, Sakai M, Migita M, Uchiba M, Kawakami K, Sameshima K, Ohashi Y, Saito H. A phase III clinical trial of a mixture agent of plasma-derived factor VIIa and factor X (MC710) in haemophilia patients with inhibitors. Haemophilia. 2016 [Epub ahead of print]
Yamaguchi T, Itoh M, Umezawa Y, Asahina A, Hanabusa H, Nakagawa H. Acquired hemophilia A and fulminant diabetes mellitus possibly caused by adalimumab in a patient with psoriatic arthritis. J Dermatol. 2016 [Epub ahead of print]
Carcao M, Zak M, Abdul Karim F, Hanabusa H, Kearney S, Lu MY, Persson P, Rangarajan S, Santagostino E. Nonacog beta pegol in previously treated children with hemophilia B: results from an international open-label phase 3 trial. J Thromb Haemost. 2016 [Epub ahead of print]
Inoue O, Kuji N, Ito H, Yamada M, Hamatani T, Oyadomari A, Kato S, Hanabusa H, Isaka K, Tanaka M. Clinical efficacy of a combination of Percoll continuous density gradient and swim-up techniques for semen processing in HIV-1 serodiscordant couples. Asian J Androl. 2016 [Epub ahead of print]
Miya F, Kato M, Shiohama T, Okamoto N, Saitoh S, Yamasaki M, Shigemizu D, Abe T, Morizono T, Boroevich KA, Kosaki K, Kanemura Y, Tsunoda T. A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutations. Sci Rep. 2015;5:9331.
Negishi Y,Miya F,Hattori A,Mizuno K,Hori I ,Ando N, Okamoto N,Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S. Truncating mutation in NFIA causes brain malformation and urinary tract defects. Hum Genome Var. 2015;2:15007.
Nakajiri T, Kobayashi K, Okamoto N, Oka M, Miya F, Kosaki K, Yoshinaga H. Late-onset epileptic spasms in a female patient with a CASK mutation. Brain Dev. 2015;37:919-923.
Akazawa Y, Inaba Y, Hachiya A, Motoki N, Matsuzaki S, Minatoya K, Morisaki T, Morisaki H, Kosaki K, Kosho T, Koike K. Reversible cerebral vasoconstriction syndrome and posterior reversible encephalopathy syndrome in a boy with Loeys-Dietz syndrome. Am J Med Genet. 2015;167:2435-2439.
Taruscio D, Groft SC, Cederroth H, Melegh B, Lasko P, Kosaki K, Baynam G, McCray A, Gahl WA. Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs. Mol Genet Metab. 2015;116:223-225.
Umeno J, Hisamatsu T, Esaki M, Hirano A, Kubokura N, Asano K, Kochi S, Yanai S, Fuyuno Y, Shimamura K, Hosoe N, Ogata H, Watanabe T, Aoyagi K, Ooi H, Watanabe K, Yasukawa S, Hirai F, Matsui T, Iida M, Yao T, Hibi T, Kosaki K, Kanai T, Kitazono T, Matsumoto T. A hereditary enteropathy caused by mutations in the SLCO2A1 gene, encoding a prostaglandin transporter. PLoS Genet. 2015;11:e1005581.
Yokoi S, Ishihara N, Miya F, Tsutsumi M, Yanagihara I, Fujita N, Yamamoto H, Kato M, Okamoto N, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Kojima S, Saitoh S, Kurahashi H, Natsume J. TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis. Sci Rep. 2015;5:15165.
＊Takenouchi T, Kosaki R, Niizuma T, Hata K, Kosaki K. Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay. Am J Med Genet. 2015;167:2822-2825.
Nozaki F, Kusunoki T, Okamoto N, Yamamoto Y, Miya F, Tsunoda T, Kosaki K, Kumada T, Shibata M, Fujii T. ALDH18A1-related cutis laxa syndrome with cyclic vomiting. Brain Dev. 2016;38:678-684.
＊Hosokawa M, Shibata H, Ishii T, Fujino A, Kuroda T, Kosaki K, Kameyama K, Hasegawa T．A case of mature teratoma with a falsely high serum estradiol value measured with an immunoassay. J Pediatr Endocrinol Metab. 2016;29:737-739.
Masuda K, Kobayashi Y, Kimura T, Umene K, Misu K, Nomura H, Hirasawa A, Banno K, Kosaki K, Aoki D, Sugano K. Characterization of the STK11 splicing variant as a normal splicing isomer in a patient with Peutz-Jeghers syndrome harboring genomic deletion of the STK11 gene. Hum Genome Var. 2016;3:16002.
Kunitomi A, Yuasa S, Sugiyama F, Saito Y, Seki T, Kusumoto D, Kashimura S, Takei M, Tohyama S, Hashimoto H, Egashira T, Tanimoto Y, Mizuno S, Tanaka S, Okuno H, Yamazawa K, Watanabe H, Oda M, Kaneda R, Matsuzaki Y, Nagai T, Okano H, Yagami K, Tanaka M, Fukuda K. H1foo has a pivotal role in qualifying induced pluripotent stem cells. Stem Cell Reports. 2016;6:825-833.
Uehara DT, Hayashi S, Okamoto N, Mizuno S, Chinen Y, Kosaki R, Kosho T, Kurosawa K, Matsumoto H, Mitsubuchi H, Numabe H, Saitoh S, Makita Y, Hata A, Imoto I, Inazawa J. SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements. J Hum Genet. 2016;61:335-43.
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 KI, Kondoh T. Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome. Am J Med Genet. 2016;170:908-917.
Wada Y, Kakiuchi S, Mizuguchi K, Nakamura T, Ito Y, Sago H, Kosaki R. A female newborn having mosaicism with near-tetraploidy and trisomy 18. Am J Med Genet. 2016;170:1262-1267.
＊Takenouchi T, Okamoto N, Ida S, Uehara T, Kosaki K. Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia. Am J Med Genet. 2016;170:852-855.
＊Fukushima H, Takenouchi T, Kosaki K. Homozygosity for moyamoya disease risk allele leads to moyamoya disease with extracranial systemic and pulmonary vasculopathy. Am J Med Genet. 2016;170:2453-6.
Ishimaru D, Gotoh M, Takayama S, Kosaki R, Matsumoto Y, Narimatsu H, Sato T, Kimata K, Akiyama H, Shimizu K, Matsumoto K. Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas. BMC Genet. 2016 (in press)
＊Takenouchi T, Miura K, Uehara T, Mizuno S, Kosaki K. Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype. Am J Med Genet. 2016 (in press)
＊Takenouchi T, Yoshihashi H, Sakaguchi Y, Uehara T, Honda M, Takahashi T, Kosaki K, Miyama S. Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutation. Am J Med Genet. 2016 (in press)
＊Takenouchi T, Kosaki K. Jacobsen syndrome, Braddock-Carey syndrome, and beyond: Reflections on intellectual disability accompanied with thrombocytopenia. Am J Med Genet. 2016 (in press)
＊Maeda J, Kosaki K, Shiono J, Kouno K, Aeba R, Yamagishi H. Variable severity of cardiovascular phenotypes in patients with an early-onset form of Marfan syndrome harboring FBN1 mutations in exons 24-32. Heart Vessels. 2016 (in press)
Sato C, Ogawa T, Tsuge R, Shiga M, Tsuji M, Baba Y, Kosaki K, Moriyama K. Systemic and maxillofacial characteristics of eleven Japanese children with Russell-Silver syndrome. Congenit Anom (Kyoto). 2016 (in press)
Sakiyama T, Umegaki-Arao N, Sasaki T, Kosaki K, Amagai M, Kubo A. Case of dominant dystrophic epidermolysis bullosa with amniotic band syndrome. J Dermatol. 2016 (in press)
Ouchi T, Morikawa S, Shibata S, Fukuda K, Okuno H, Fujimura T, Kuroda T, Ohyama M, Akamatsu W, Nakagawa T, Okano H. LNGFR+THY-1+ human pluripotent stem cell-derived neural crest-like cells have the potential to develop into mesenchymal stem cells. Differentiation 2016 (in press)
Hori I, Miya F, Ohashi K, Negishi Y, Hattori A, Ando N, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S. Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. Am J Med Genet. 2016 (in press)
Mashima R, Sakai E, Kosuga M, Okuyama T. Levels of enzyme activities in six lysosomal storage diseases in Japanese neonates determined by liquid chromatography-tandem mass spectrometry. Mol Genet Metab Rep. 2016;9:6-11.
Nakazawa Y, Kawai T, Uchiyama T, Goto F, Watanabe N, Maekawa T, Ishiguro A, Okuyama T, Otsu M, Yamada M, Hershfield MS, Ariga T, Onodera M. Effects of enzyme replacement therapy on immune function in ADA deficiency patient. Clin Immunol. 2015;161:391-393.
Mashima R, Okuyama T. The role of lipoxygenases in pathophysiology; new insights and future perspectives. Redox Biol. 2015;6:297-310.
Kosuga M, Mashima R, Hirakiyama A, Fuji N, Kumagai T, Seo JH, Nikaido M, Saito S, Ohno K, Sakuraba H, Okuyama T. Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase.Mol Genet Metab. 2016;118:190-197.
Mashima R, Sakai E, Tanaka M, Kosuga M, Okuyama T. The levels of urinary glycosaminoglycans of patients with attenuated and severe type of mucopolysaccharidosis II determined by liquid chromatography-tandem mass spectrometry.Mol Genet Metab Rep. 2016;7:87-91.
Mashima R, Tanaka M, Sakai E, Nakajima H, Kumagai T, Kosuga M, Okuyama T. A selective detection of lysophosphatidylcholine in dried blood spots for diagnosis of adrenoleukodystrophy by LC-MS/MS.Mol Genet Metab Rep. 2016;18:16-19.
Tatsuno M, Shioda Y, Iwafuchi H, Yamazaki S, Iijima K, Takahashi C, Ono H, Uchida K, Okamura O, Matubayashi M, Okuyama T, Matsumoto K, Yoshioka T, Nakazawa A. BRAF V600 mutations in Langerhans cell histiocytosis with a simple and unique assay.Diagn Pathol. 2016;19:11:39.
Noguchi A, Nakamura K, Murayama K, Yamamoto S, Komatsu H, Kizu R, Takayanagi M, Okuyama T, Endo F, Takasago Y, Shoji Y, Takahashi T. Clinical and genetic features of Japanese patients with lysinuric protein intolerance.Pediatr Int. 2016 Feb 10.
Kamemura N, Takashima M, Morita H, Matsumoto K, Saito H, Kido H. Measurement of allergen-specific IgA in stool of neonates, infants and toddlers by protection against degradation of immunoglobulins and allergens. J Med Invest. 2015;62:137-144.
Kubo T, Wawrzyniak P, Morita H, Sugita K, Wanke K, Kast JI, Altunbulakli C, Rückert B, Jakiela B, Sanak M, Akdis M, Akdis CA. CpG-DNA enhances the tight junction integrity of the bronchial epithelial cell barrier. J Allergy Clin Immunolo. 2015;136:1413-6.e1-8.
Horimukai K, Morita K, Narita M, Kondo M, Kabashima S, Inoue E, Sasaki T, Niizeki H, Saito H, Matsumoto K, Ohya Y. Transepidermal water loss measurement during infancy can predict the subsequent development of atopic dermatitis regardless of filaggrin mutations. Allegol Int. 2016;65:103-8.
Morita H, Saito H, Matsumoto K, Nakae S. Regulatory roles of mast cells in immune responses. Semin Immunopathol. 2016.(in press)
Hiraishi Y, Nambu A, Shibui A, Nakanishi W, Yamaguchi S, Morita H, Iikura M, McKenzie AN, Matsumoto K, Sudo K, Yamasoba T, Nagase T, Nakae S. TIM-3 is not essential for development of airway inflammation induced by house dust mite antigens. Allergol Int. 2016. (in press)
Takeda T, Unno H, Morita H, Futamura K, Emi-Sugie M, Arae K, Shoda T, Okada N, Igarashi A, Inoue E, Kitazawa H, Nakae S, Saito H, Matsumoto K, Matsuda A. Platelets constitutively express interleukin-33 protein and modulate eosinophilic airway inflammation. J Allergy Clin Immunol. 2016.(in press)
Shibui A, Takamori A, Tolba ME, Nambu A, Shimura E, Yamaguchi S, Sanjoba C, Suto H, Okumura K, Sugano S, Morita H, Saito H, Matsumoto K, Nakae S. IL-25, IL-33 and TSLP receptor are not critical for development of experimental murine malaria. Biochem Biophys Res Commun. 2016. (in press)
Shoda T, Matsuda A, Arai K, Shimizu H, Morita H, Orihara K, Okada N, Narita M, Ohya Y, Saito H, Matsumoto K, Nomura I. Sera of infantile eosinophilic gastroenteritis patients showed specific elevation of both thymic stromal lymphopoietin and interleukin-33. J Allergy Clin Immunol 2016. (in press)
Hishikawa K, Fujinaga H, Nagata C, Higuchi M, Ito Y. Semilobar Holoprosencephaly with Congenital Oropharyngeal Stenosis in a Term Neonate. AJP Rep. 2015;5:e109-110
Handa A, Fujita K, Yamamoto Y, Komori K, Miyakawa T. Tracheal Tumor. J Pediatr. 2016;173:262-262
＊Yasui Y, Yamaji Y, Sawada A, Ito T, Nakayama T. Cell fusion assay by expression of respiratory syncytial virus (RSV) fusion protein to analyze the mutation of palivizumab-resistant strains. J Virol Meth. 2016;231:1-8.
＊Yamaji Y, Yasui Y, Nakayama T. Development of acquired immunity following repeated respiratory syncytial virus infections in cotton rats. PLOS ONE. 2016;1/journal.pone.0155777.