Publications 2017 (Oct. 2016 – Sept. 2017)

Seki Y, Onose A, Sugaya N. Influenza vaccine effectiveness in adults based on the rapid influenza diagnostic test results, during the 2015/16 season. J Infect Chemother. 2017;23:615-620.
Nakatsu S, Sagara H, Sakai-Tagawa Y, Sugaya N, Noda T, Kawaoka Y. Complete and Incomplete Genome Packaging of Influenza A and B Viruses. MBio. 2016;7(5). pii:e01248-16.
＊Mitani M, Ehara K, Araki K, Anzo M, Bamba M. Encephalopathy and pancreatitis in 3-year-old girl with Kawasaki disease. Pediatr Int. 2017;59:496-498.
Nakayama T. An inflammatory response is essential for the development of immunity-immunogenicity and immunotoxicity. Vaccine 2016; 34: 5815-5818.
Kubota M, Takeuchi K, Watanabe S, Ohno S, Matsuoka R, Kohda D, Nakakita SI, Hiramatsu H, Suzuki Y, Nakayama T, Terada T, Shimizu K, Shimizu N, Shiroishi M, Yanagi Y, Hashiguchi T. Trisaccharide containing α2,3-linked sialic acid is a receptor for mumps virus. Proc Natl Acad Sci U S A. 2016; 113: 1 579-11584.
ishikawa-Nakamura N, Okada T, Nishimura K, Iwai T, Ubukata K, Iwata S, Iwai A. An infant with concurrent serotype 6C invasive pneumococcal disease and infectious mononucleosis. J Infect Chemother. 2017 Jul 17. pii: S1341-321X(17)30140-X. doi:10.1016/j.jiac.2017.06.007. [Epub ahead of print]
Yanagihara K, Watanabe A, Aoki N, Matsumoto T, Yoshida M, Sato J, Wakamura T, Sunakawa K, Kadota J, Kiyota H, Iwata S, Kaku M, Hanaki H, Ohsaki Y, Fujiuchi S, Takahashi M, Takeuchi K, Takeda H, Ikeda H, Miki M, Nakanowatari S, Takahashi H, Utagawa M, Nishiya H, Kawakami S, Morino E, Takasaki J, Mezaki K, Chonabayashi N, Tanaka C, Sugiura H, Goto H, Saraya T, Kurai D, Katono Y, Inose R, Niki Y, Takuma T, Kudo M, Ehara S, Sato Y, Tsukada H, Watabe N, Honma Y, Mikamo H, Yamagishi Y, Nakamura A, Ohashi M, Seki M, Hamaguchi S, Toyokawa M, Fujikawa Y, Mitsuno N, Ukimura A, Miyara T, Nakamura T, Mikasa K, Kasahara K, Ui K, Fukuda S, Nakamura A, Morimura M, Yamashita M, Takesue Y, Wada Y, Sugimoto K, Kusano N, Nose M, Mihara E, Kuwabara M, Doi M, Watanabe Y, Tokuyasu H, Hino S, Negayama K, Mukae H, Kawanami T, Ota T, Fujita M, Honda J, Hiramatsu K, Aoki Y, Fukuoka M, Magarifuchi H, Nagasawa Z, Kaku N, Fujita J, Higa F, Tateyama M. Nationwide surveillance of bacterial respiratory pathogens conducted by the surveillance committee of Japanese Society of Chemotherapy, the Japanese Association for Infectious Diseases, and the Japanese Society for Clinical Microbiology in 2012: General view of the pathogens’ antibacterial susceptibility. J Infect Chemother. 2017 Jun 29. pii: S1341-321X(17)30133-2. doi:10.1016/j.jiac.2017.05.010. [Epub ahead of print]
Chiba N, Murayama SY, Morozumi M, Iwata S, Ubukata K. Genome Evolution to Penicillin Resistance in Serotype 3 Streptococcus neumoniae by Capsular Switching. Antimicrob Agents Chemother. 2017 Jun 19. pii: AAC.00478-17. doi: 10.1128/AAC.00478-17. [Epub ahead of print]
Morozumi M, Okada T, Tajima T, Ubukata K, Iwata S. Killing kinetics of minocycline, doxycycline and tosufloxacin against macrolide-resistant Mycoplasma pneumoniae. Int J Antimicrob Agents. 2017 Jun 1. pii: S0924-8579(17)30174-7. doi: 10.1016/j.ijantimicag.2017.02.027. [Epub ahead of print]
Watanabe S, Ohnishi T, Yuasa A, Kiyota H, Iwata S, Kaku M, Watanabe A, Sato J, Hanaki H, Manabe M, Suzuki T, Otsuka F, Aihara M, Iozumi K, Tamaki T, Funada Y, Shinozaki M, Kobayashi M, Okuda M, Kikyo G, Kikuchi K, Okada Y, Takeshima M, Kaneko O, Ogawa N, Ito R, Okuyama R, Shimada S, Shimizu T, Hatta N, Manabu M, Tsutsui K, Tanaka T, Miyachi Y, Asada H, Furukawa F, Kurokawa I, Iwatsuki K, Hide M, Muto M, Yamamoto O, Niihara H, Takagaki K, Kubota Y, Sayama K, Sano S, Furue M, Kanekura T. The first nationwide surveillance of antibacterial susceptibility patterns of pathogens isolated from skin and soft-tissue infections in dermatology departments in Japan. J Infect Chemother. 2017;23: 503-511.
Takesue Y, Kusachi S, Mikamo H, Sato J, Watanabe A, Kiyota H, Iwata S, Kaku M, Hanaki H, Sumiyama Y, Kitagawa Y, Mizuguchi T, Ambo Y, Konosu M, Ishibashi K, Matsuda A, Hase K, Harihara Y, Okabayashi K, Seki S, Hara T, Matsui K, Matsuo Y, Kobayashi M, Kubo S, Uchiyama K, Shimizu J, Kawabata R, Ohge H, Akagi S, Oka M, Wakatsuki T, Suzuki K, Okamoto K, Yanagihara K. Antimicrobial susceptibility of pathogens isolated from surgical site infections in Japan: Comparison of data from nationwide surveillance studies conducted in 2010 and 2014-2015. J Infect Chemother. 2017;23:339-348.
Ebara Y, Morozumi M, Sato M, Moritoki N, Toyofuku M, Takata M, Murata M, Ubukata K, Iwata S. Enhancement of bactericidal activity against group B streptococci with reduced penicillin susceptibility by uptake of gentamicin into cells resulting from combination with β-lactam antibiotics. J Infect Chemother. 2017;23:312-318.
Iwata S, Okada K, Kawana K; Expert Council on Promotion of Vaccination. Consensus statement from 17 relevant Japanese academic societies on the promotion of the human papillomavirus vaccine. Vaccine. 2017;35:2291-2292.
Sakata H, Kuroki H, Ouchi K, Tajima T, Iwata S ; World’s First Oral Carbapenem Study Group.Pediatric community-acquired pneumonia treated with a three-day course of tebipenem pivoxil. J Infect Chemother. 2017;23:307-311.
Uwamino Y, Sugita K, Iwasaki E, Fujiwara H, Nishimura T, Hasegawa N, Iwata S. The First Case Report of Acute Cholangitis and Bacteremia Due to Neisseria subflava. Intern Med. 2017;56:221-223.
Iwata S, Murata S, Han SR, Wakana A, Sawata M, Tanaka Y. Safety and Immunogenicity Study of a 9-Valent Human Papillomavirus Vaccine Administered to 9-To-15 Year-Old Japanese Girls. Jpn J Infect Dis. 2017;70:368-373.
Uwamino Y, Sugita K, Hasegawa N, Nishimura T, Fujiwara H, Iwata S. Rapid Detection and Typing of Carbapenemase Genes from Carbapenem-Resistant Enterobacteriaceae Isolates Collected in a Japanese Hospital Using the Xpert Carba-R Assay. Jpn J Infect Dis. 2017 ;70:124-125.
Kotani H, Sudo K, Hasegawa N, Fujiwara H, Hayakawa T, Iketani O, Yamaguchi M, Mochizuki M, Iwata S, Kato S. Possible involvement of distinct phylogenetic clusters of HIV-1 variants in the discrepancies between coreceptor tropism predictions based on viral RNA and proviral DNA. J Pharm Health Care Sci. 2016 ;2:31. . eCollection 2016.
Funatsu Y, Tasaka S, Asami T, Namkoong H, Fujiwara H, Iketani O, Yagi K, Kimizuka Y, Ishii M, Nishimura T, Ogata H, Iwata S, Betsuyaku T, Hasegawa N. Pharmacokinetics of intravenous peramivir in the airway epithelial lining fluid of healthy volunteers. Antivir Ther. 2016;21:621-625.
Morozumi M, Wajima T, Takata M, Iwata S, Ubukata K. Molecular Characteristics of Group B Streptococci Isolated from Adults with Invasive Infections in Japan. J Clin Microbiol. 2016;54:2695-2700.
Yagi K, Ishii M, Namkoong H, Fujii H, Asami T, Suzuki S, Asakura T, Mizoguchi K, Kamo T, Tasaka S, Iwata S, Kunkel SL, Hasegawa N, Betsuyaku T. Histone Deacetylase Inhibition Protects Mice Against Lethal Postinfluenza Pneumococcal Infection. Crit Care Med. 2016;44:e980-987.
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.
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.
Shinjoh M, Yamaguchi Y, Iwata S. Pediatric bacterial meningitis in Japan, 2013-2015 – 3-5 years after the wide use of Haemophilus influenzae type b and Streptococcus pneumoniae conjugated vaccines. J Infect Chemother. 2017;23:427-438.
＊Hosoda A, Gatayama R, Moriyama S, Ishii N, Yamada K, Matsuzaki Y, Shinjoh M. The first case of recurrent ultra late onset group B streptococcal sepsis in a 3-year-old child. IDCases. 2016;7:16-18.
Sugaya N, Shinjoh M, Kawakami C, Yamaguchi Y, Yoshida M, Baba H, Ishikawa M, Kono M, Sekiguchi S, Kimiya T, Mitamura K, Fujino M, Komiyama O, Yoshida N, Tsunematsu K, Narabayashi A, Nakata Y, Sato A, Taguchi N, Fujita H, Toki M, Myokai M, Ookawara I, Takahashi T. Trivalent inactivated influenza vaccine effective against influenza A(H3N2) variant viruses in children during the 2014/15 season, Japan. Euro Surveill. 2016; 21(42).
Kamidani S, Shoji K, Ogawa E, Funaki T, Mishina H, Miyairi I. High Rate of Febrile Seizures in Japanese Children with Occult Bacteremia. Pediatric Emergency Care. Accepted for publication.
Uda K, Sasaki Y, Shoji K, Miyairi I. Pulmonary Calcification in a Congenital Cytomegalovirus Infection. J Pediatr. Accepted for publication.
Nozawa H, Shoji K, Uda K, Nakamura T, Kubota M, Ishiguro A, Miyairi I.Pertussis without apparent cough in a disabled girl with a tracheostomy. J Infect Chemother. 2017 Jun. Tetsuka N, Yaguchi T, Machida H, Ito S, Miyairi I. Invasive pulmonaryaspergillosis due to azole-resistant Aspergillus lentulus. Pediatr Int. 2017;59:362-363.
Kawai M, Miyairi I, Ono H, Miyazaki O, Ishiguro A. Mycotic Aneurysm of Ductal Arteriosus in a Previously Healthy Infant. Indian J Pediatr. 2017;84:492-493.
Matsubara K, Hoshina K, Kondo M, Miyairi I, Yukitake Y, Ito Y, Minami K, Genkawa R. Group B streptococcal disease in infants in the first year of life: a nationwide surveillance study in Japan, 2011-2015. Infection. 2017:45(4):449-458.
Nishijima T, Teruya K, Shibata S, Yanagawa Y, Kobayashi T, Mizushima D, Aoki T, Kinai E, Yazaki H, Tsukada K, Genka I, Kikuchi Y, Oka S, Gatanaga H. Incidence and Risk Factors for Incident Syphilis among HIV-1-Infected Men Who Have Sex with Men in a Large Urban HIV Clinic in Tokyo, 2008-2015. PLoS One. 2016 Dec 16;11(12):e0168642.
Kinai E, Gatanaga H, Mizushima D, Nishijima T, Aoki T, Genka I, Teruya K, Tsukada K, Kikuchi Y, Oka S. Protease inhibitor-associated bone mineral density loss is related to hypothyroidism and bone turnover acceleration. J Infect Chemother 2017 Mar 5. pii:S1341-321X(16)30245-8. doi: 10.1016/j.jiac.2016.10.009. [Epub ahead of print]
Kinai E, Komatsu K, Sakamoto M, Taniguchi T, Nakao A, Igari H, Takada K, Watanabe A, Takahashi-Nakazato A, Takano M, Kikuchi Y, Oka S, for HIV-associated neurocognitive disorders in Japanese (J-HAND study group*). Association of age and time of disease with HIV-associated neurocognitive disorders: A Japanese nationwide multicenter study. J Neurovirol [in revision]
Kamei A, Gao G, Neale G, Loh LN, 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 U S A. 2016; 113(41):E6153-E6161.
Yamada M, Andrew J N. Two sides of the EBV coin: Long-term control of EBV after liver transplantation? Pediatric Transplantation. 2017; 21:5, e12943
Sato M, Kubota N, Katsuyama Y, Suzuki Y, Miyairi Y, Minami K, Kasai M. Case report of a 6-year-old girl with Mycoplasma hominis ventriculoperitoneal shunt infection. J Neurosurg Pediatr. 2017;19(5): 620-624
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. Transplantation. 2016;100(11):2404-2409.
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. 2016;22(12):785-789.
Furuichi M, Fukuda A, Sakamoto S, Kasahara M, Miyairi I. Characteristics and Risk Factors of Late-Onset Bloodstream Infection beyond Six months after Liver Transplantation in Children. Pediatr Infect Dis J. (in press)
Ohnishi T, Kawano A, Araki M, Hamahata Y, Usui M, Shimoyamada M, Tamame T, Akashi M, Sato S. Listeria monocytogenes Meningitis Complicating Rotavirus Gastroenteritis in an Immunocompetent Child. Keio J Med. 2017; 66 (2).
＊Mitani M, Furuichi M, Narumi S, Hasegawa T, Chiga M, Uchida S, Sato S. A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a KLHL3 mutation. Clin Pediat Endocrinol 2016;25;127-134.
Kimura M, Kohno T, Aizawa Y, Inohara T, Shiraishi Y, Katsumata Y, Egashira T, Fukushima H, Kosaki K, Fukuda K. A Novel SCN5A Mutation Found in a Familial Case of Long QT Syndrome Complicated by Severe Left Ventricular Dysfunction. Can J Cardiol. 2017;33(4):554.e5-554.e7.
Nagakura A, Morikawa Y, Sakakibara H, Miura M. Bradycardia Associated with Prednisolone in Children with Severe Kawasaki Disease. J Pediatr. 2017 (in press)
Sumitomo N, Horigome H, Miura M, Ono H, Ueda H, Takigiku K, Yoshimoto J, Ohashi N, Suzuki T, Sagawa K, Ushinohama H, Takahashi K, Miyazaki A, Sakaguchi H, Iwamoto M, Takamuro M, Tokunaga C, Nagano T; Heartful Investigators. Study design for control of HEART rate in inFant and child tachyarrhythmia with heart failure Using Landiolol (HEARTFUL): A prospective, multicenter, uncontrolled clinical trial. J Cardiol. 2017 (in press)
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 TGF􀀀 signaling in left ventricular non-compaction cardiomyopathy. Nat Cell Biol. 2016;18(10):1031-1042.
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. Journal of Cardiology Cases 14 (2016) 103-106.
＊Kobayashi H, Mizuno Y, Takahashi T. Conservative follow-up of fractured percutaneously inserted central venous catheter. Pediatr Int. 2016;58(12):1369-1370.
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. p175-179
Miura M. Future research projects on aortopathy in congenital heart anomalies. In: Aortopathy. Niwa K and Kaemmerer H. Springer. 2016. p325-333.
＊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. 2016:31:1717-1723
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. 2016:58:1112-1117
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. 2016:418:89-97.
Kawaida M, Abe T, Nakanishi T, Miyahara Y, Yamagishi H, Sakamoto M, Yamada T. A case of Timothy syndrome with adrenal medullary dystrophy. Pathol Int. 2016:66:587-592
Lee WH, Chen W, Shao NY, Xiao D, Qin X, Baker N, Bae HRM, Shukla P, Wu H, Kodo K, Ong SG, Wu JC. Comparison of Non-Coding RNAs in Exosomes and Functional Efficacy of Human Embryonic Stem Cell- Versus Induced Pluripotent Stem Cell-Derived Cardiomyocytes. Stem Cells. 2017 (in press) doi: 10.1002/stem.2669.
Kodo K, Shibata S, Miyagawa-Tomita S, Ong SG, Takahashi H, Kume T, Okano H, Matsuoka M, Yamagishi H. Regulation of Sema3c and the Interaction between Cardiac Neural Crest and Second Heart Field during Outflow Tract Development. Sci Rep. 2017 (in press)
Kanda T., Takeda A., Hirose H., Abe T., Urai H., Inokuchi M., Wakino S., Tokumura M., Itoh H., Kawabe H. Temporal trends in renal function and birth weight in Japanese adolescent males (1998-2015). Nephrology Dialysis Transplantation (in press)
＊Funata K,Shike T,Takenouchi T,Yamashita Y,Takahashi T. Respiratory arrest at the onset of idiopathic childhood occipital epilepsy of Gastaut. Brain Dev. 2017 Jul 19. pii: S0387-7604(17)30181-X. doi: 10.1016/j.braindev.2017.06.009. (in press).
＊Mitani M, Ehara K, Araki K, Anzo M, Bamba M. Encephalopathy and pancreatitis in 3-year-old girl with Kawasaki disease. Pediatr Int. 2017;59:496-498.
＊Hosoda A, Gatayama R, Moriyama S, Ishii N, Yamada K, Matsuzaki Y, Shinjoh M. The first case of recurrent ultra late onset group B streptococcal sepsis in a 3-year-old child. IDCases. 2016;7:16-18.
＊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;170:2453-2456.
＊Tominaga T, Sato T, Ichihashi Y, Awazu M. Transient Fanconi syndrome in two preterm infants with hydronephrosis and urinary tract infection. CEN Case Reports. 2017; 6:88–90.
＊Hosoda A, Gatayama R, Moriyama S, Ishii N, Yamada K, Matsuzaki Y, Shinjoh M. The first case of recurrent ultra late onset group B streptococcal sepsis in a 3-year-old child. IDCases. 2016;7:16-18.
＊Awazu M, Arai M, Ohashi S, Takahashi H, Sekine T, Ikeda K. Tubular dysfunction mimicking Dent’s disease in 2 infants born with extremely low birth weight. Case Reports in Nephrology and Dialysis. 2017;7:13-17.
＊Awazu M, Nagata M, Hida M. BMP7 dose-dependently stimulates proliferation and cadherin-11 expression via ERK and p38 in a murine metanephric mesenchymal cell line. Physiol Rep. (in press).
Kojima K, Nimtz J, Martin SW, Guertin SR, Cavenagh EC. Paravertebral calcification as a potential indicator for nonaccidental trauma. Journal of Radiology Case Report (in press)
Alsaedi H, Kojima K, Scott-Emuakpor A. Suspected sudden visual loss in a 2-year-old girl. Pediatrics in Review (in press) [Corresponding author]
Kojima K, Mckinley K, Donohue P, Sigal Y. The high prevalence of inappropriate feeding among infants presenting with an apparent life-threatening event. The Turkish Journal of Pediatrics (in press)
Nakai Y, Jeong JW, Brown EC, Rothermel R, Kojima K, Kambara T, Shah A, Mittal S, Sood S, Asano E. Three-and four-dimensional mapping of speech and language in patients with epilepsy. Brain 2017. doi: 1093/brain/awx051
Kojima K, Schein R, Karna P. Herpes simplex virus infection in a premature infnant and complications. NeoReviews 2017;18(5), e309-e311. doi:10.1542/neo.18-5-e309
Kojima K, Rosenberg M, English BK. Sore throat and fever in a 4-year-old boy. Pediatrics in Review 2016;37(9):397-8. doi: 10.1542/pir.2016-0006
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 (Oxf). 2016;85:669-671.
＊Mitani M, Furuichi M, Narumi S, Hasegawa T, Chiga M, Uchida S, Sato S. A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a KLHL3 mutation. Clin Pediat Endocrinol 2016;25;127-134.
Fujisawa Y, Fukami M, Hasegawa T, Uematsu A, Muroya K, Ogata T. Long-term clinical course in three patients with MAMLD1 mutations. Endocr J. 2016;63:835-839. Takagi M, Miyoshi T, Nagashima Y, Shibata N, Yagi H, Fukuzawa R, Hasegawa T. Novel Heterozygous Mutation in the Extracellular Domain of FGFR1 associated with Hartsfield. Hum Genome Var 2016;13:16034.
Nishina-Uchida N, Fukuzawa R, Ishii T, Anaka MR, Hasegawa T, Hasegawa Y. The distribution and cellular lineages of XX and XY cells in gonads associated with ovotesticular disorder of sexual development. Sex Dev 2016;10:185-190.
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 2016;61:765-769.
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. 2016;63:897-904.
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. 2016;33:1717-1722.
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 2016;61:839-842.
Luk HM, Ivan Lo FM, 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 2016;170:1938-1941.
Marchini A, Ogata T, Rappold GA. A track record on SHOX: from basic research to complex models and therapy. Endocr Rev 2016;37:417-448.
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 2016;30:765-784.
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 2016;25:139-141.
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. Endocrine J. 2016;30:983-990.
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. 2016;54:484-496.
＊Kobayashi H, Mizuno Y, Takahashi T. Conservative follow-up of fractured percutaneously inserted central venous catheter. Pediatr Int. 2016;58:1369-1379.
Goto M, Yamamoto Y, Ishii M, Nakamura A, Sano S, Kagami M, Fukami M, Saito R, Araki S, Kubo K, Kawagoe R, Kawada Y, Kusuhara K. Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia. Pediatr Int. 2016;58:1229-1231.
Shima H, Yatsuga S, Nakamura A, Sano S, Sasaki T, Katsumata N, Suzuki E, Hata K, Nakabayashi K, Momozawa Y, Kubo M, Okamura K, Kure S, Matsubara Y, Ogata T, Narumi S, Fukami M. NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty. Sex Dev. 2016;10:205-209.
Suzuki E, Shima H, Toki M, Narumi S, Ogata T, Kamimaki T, Fukami M. Complex X-chromosomal rearrangements in two women with ovarian dysfunction: Implications for chromothripsis/chromoanasynthesis-dependent and -independent origins of complex genomic alterations. Cytogenet Genome Res. 2016;150:86-92.
Miyado M, Inui M, Igarashi M, Katoh-Fukui Y, Takasawa K, Hakoda A, Kanno J, Kashimada K, Miyado K, Tamano M, Ogata T, Takada S, Fukami M. 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.
Montalbano A, Juergensen L, Roeth R, Weiss B, Fukami M, Fricke-Otto S, Binder G, Ogata T, Decker E, Nuernberg G, Hassel D, Rappold GA. Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency. EMBO Mol Med. 2016;8:1455-1469.
Fukami M, Seki A, Ogata T. SHOX Haploinsufficiency as a cause of syndromic and non-syndromic short stature. Mol Syndromol. 2016;7:3-11.
Maeda E, Higashi T, Hasegawa T, Yokoya S, Mochizuki T, Ishii T, Ito J, Kanzaki S, Shimatsu A, Takano K, Tajim T, Tanaka H, Tanahashi Y, Teramoto A, Nagai T, Hanew K, Horikawa R, Yorifuji T, Wada N, Tanaka T. Effects of financial support on treatment of adolescents with growth hormone deficiency: a retrospective study in Japan. BMC Health Serv Res. 2016;16:602
Hatano M, Takenaka Y, Inoue I, Homma K, Hasegawa T, Sasano H, Awata T, Katayama S. Feminizing adrenocortical cartinoma with distinct histopathological findings. Intern Med. 2016;55:3301-3307.
Saito K, Matsuzaki T, Iwasa T, Miyado M, Saito H, Kubota T, Irahara M, Ogata T, Fukami M. Blood allopregnanolone levels in women with polycystic ovary syndrome. Clin Endocrinol. 2016;85:151–152.
Eggermann T, Brioude F, Russo S, Lombardi MP, Bliek J, Maher ER, Larizza L, Prawitt D, Netchine I, Gonzales M, Grønskov K, Tümer Z, Monk D, Mannens M, Chrzanowska K, Walasek MK, Begemann M, Soellner L, Eggermann K, Tenorio J, Nevado J, Moore GE, Mackay DJ, Temple K, Gillessen-Kaesbach G, Ogata T, Weksberg R, Algar E, Lapunzina P. Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecularanalysis and genetic counseling. Eur J Hum Genet. 2016;24:784–793. Moritani M, Yokota I, Horikawa R, Urakami T, Nishii A, Kawamura T, Kikuchi N, Kikuchi T, Ogata T,Sugihara S, Amemiya S; Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes (JSGIT): Identification of monogenic gene mutations in Japanese subjects diagnosed with type 1B diabetes between >5 and 15.1 years of age. J Pediatr Endocrinol Metab 2016;229:1047–1054.
Asahina M, Endoh Y, Matsubayashi T, Hirano K, Fukuda T, Ogata T. Genomewide array comparative genomic hybridization in 55 Japanese normokaryotypic patients with non-syndromic intellectual disability. J Pediatr Neurol Disord. 2016;2:108.
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.
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 mutation in a 6-year-old girl. Eur J Pediatr. 2016;175:137-41.
Kagami M, Matsubara K, Nakabayashi K, Nakamura A, Sano S, Okamura K, Hata K, Fukami M, Ogata T. Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome. Genet Med. 2017;19:476-482.
Hiyama T, Utsunomiya AN, Matsumoto M, Fujikawa A, Lin CH, Hara K, Kagawa R, Okada S, Kobayashi M, Ishikawa M, Anzo M, Cho H, Takayasu S, Nigawara T, Daimon M, Sato T, Terui K, Ito E, Noda M. Adipsic hypernatremia without hypothalamic lesions accompanied by autoantibodies to subfornical organ. Brain Pathol. 2017;27:323-331.
Nagai K, Shima H, Kamimura M, Kanno J, Suzuki E, Ishiguro A, Narumi S, Kure S, Fujiwara I, Fukami M. Xp22.31 microdeletion due to microhomology-mediated break-induced replication in a boy with contiguous gene deletion syndrome. Cytogenet Genome Res. 2017;151:1-4.
Takagi M, Yagi H, Fukuzawa R, Narumi S, Hasegawa T. Syndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of ATRX. Hum Genome Var. 2017;4:17012.
Takagi M, Dobashi K, Nagahara K, Kato M, Nishimura G, Fukuzawa R, Narumi S, Hasegawa T. A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency. Am J Med Genet A. 2017;173:1071-1076.
Takagi M, Kamasaki H, Yagi H, Fukuzawa R, Narumi S, Hasegawa T. A novel heterozygous intronic mutation in POU1F1 is associated with combined pituitary hormone deficiency. Endocr J. 2017;64:229-234.
Ihara K, Fukano C, Ayabe T, Fukami M, Ogata T, Kawamura T, Urakami T, Kikuchi N, Yokota I, 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; Japanese Study Group of Insulin Therapy for Childhood Adolescent Diabetes (JSGIT). FUT2 Nonsecretor Status Links Type 1 Diabetes Susceptibility in Japanese children. Diabet Med. 2017;34:586-589.
Okuno M, Kasahara Y, Onodera M, Takubo N, Okajima M, Suga S, Watanabe N, Suzuki J, Ayabe T, Urakami T, Kawamura T, Kikuchi N, Yokota I, Kikuchi T, Amemiya S, Nakabayashi K, Hayashi K, Hata K, Matsubara Y, Ogata T, Fukami M, Sugihara S. Nucleotide substitutions in CD101, the human homolog of a diabetes susceptibility gene in non-obese diabetic mouse, in patients with type 1 diabetes. J Diabetes Investig. 2017;8:286-294.
Miyado M, Miyado K, Nakamura A, Fukami M, Yamada G, Oda SI. Expression patterns of Fgf8 and Shh in the developing external genitalia of Suncus murinus. Reproduction. 2017;152:187-195.
Igarashi M, Takasawa K, Hakoda A, Kanno J, Takada S, Miyado M, Baba T, Morohashi KI, Tajima T, Hata K, Nakabayashi K, Matsubara Y, Sekido R, Ogata T, Kashimada K, Fukami M. Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues. Hum Mutat. 2017;38:39-42.
Ohishi A, Nishimura G, Kato F, Ono H, Maruwaka K, Ago M, Suzumura H, Hirose E, Uchida Y, Fukami M, Ogata T. Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses. Am J Med Genet A. 2017;173:157–162.
Hattori A, Zukeran H, Igarashi M, Toguchi S, Toubaru Y, Inoue T, Katoh-Fukui Y, Fukami M. A novel C-terminally truncating NR5A1 mutation in dizygotic twins. Hum Genome Variat. 2017;4:17008
Ohtaka K, Fujisawa Y, Takada F, Hasegawa Y, Miyoshi T, Hasegawa T, Miyoshi H, Kameda H, Seo MK, Fukami M, Ogata T. FGFR1 Analyses in Four Patients with Hypogonadotropic Hypogonadism with Split-Hand/Foot Malformation: Implications for the Promoter Region. Hum Mutat. 2017;38:503-506.
Saito K, Miyado K, Yamatoya K, Kuwahara A, Inoue E, Miyado M, Fukami M, Ishikawa T, Saito T, Kubota T, Saito H. Increased incidence of post-term delivery and Cesarean section after frozen-thawed embryo transfer during a hormone replacement cycle. J Assist Reprod Genet. 2017;34:465-470.
Nishioka J, Shima H, Fukami M, Yatsuga S, Matsumoto T, Ushijima K, Kitamura M, Koga Y. The first Japanese case of central precocious puberty with a novel MKRN3 mutation. Hum Genome Var. 2017;4:17017.
Nakamura S, Miyado M, Saito K, Katsumi M, Nakamura A, Kobori Y, Tanaka Y, Ishikawa H, Yoshida A, Okada H, Hata K, Nakabayashi K, Okamura K, Ogata H, Matsubara Y, Ogata T, Nakai H, Fukami M. Next-generation sequencing for patients with non-obstructive azoospermia: implications for significant roles of monogenic/oligogenic mutations. Andrology. 2017;5:824-831.
Inoue T, Nakamura A, Fuke T, Yamazawa K, Sano S, Matsubara K, Mizuno S, Matsukura Y, Harashima C, Hasegawa T, Nakajima H, Tsumura K, Kizaki Z, Oka A, Ogata T, Fukami M, Kagami M. Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects. Clin Epigenetics. 2017;9:52.
Yamoto K, Saitsu H, Nakagawa N, Nakajima H, Hasegawa T, Fujisawa Y, Kagami M, Fukami M, Ogata T. De Novo IGF2 mutation on the paternal allele in a patient with silver-russell syndrome and ectrodactyly. Hum Mutat. 2017;38:953-958. Fukami M, Shima H, Suzuki E, Ogata T, Matsubara K, Kamimaki T. Catastrophic Cellular Events Leading to Complex Chromosomal Rearrangements in the Germline. Clin Genet. 2017;91:653-660.
Fukami M, Miyado M. Next generation sequencing and array-based comparative genomic hybridization for molecular diagnosis of pediatric endocrine disorders. Ann Pediatr Endocrinol Metab. 2017;22:90-94.
Kusano C, Takagi M, Hori N, Murotsuki J, Nishimura G, Hasegawa T. A novel mutation in the C-propeptide of COL2A1 causes atypical spondyloepiphyseal dysplasia cogenita. Hum Genome Variat 2017; 4:17003.
Yamada M, Shibata H, Masugi Y, Ishii T, Kameyama K, Ebinuma H, Hasegawa T. Histological Changes in Autoimmune Hepatitis with Graves’ Disease; A Child Case Report. Inter Med 2017 56;2139-2143.
Isojima T, Sakazume S, Hasegawa T, Ogata T, Nakanishi T, Nagai T, Yokoya S. Validation of auxological reference values for Japanese children with Noonan syndrome and comparison with growth in children with Turner syndrome. Clin Pediatr Endocrinol 2017;26:153-164.
Yorifuji T, Horikawa R, Hasegawa T, Adachi M, Soneda S, Minagawa M, Ida S, Yonekura T, Kinoshita Y, Kanamori Y, Kitagawa M, Shinakai M, Sasaki H, Nio M. Clinical practice guideline for congenital hyperinsulinism. Clin Pediatr Endocrinol 2017;26,:127-152.
Amano N, Narumi S, Hayashi M, Takagi M, Imai K, Nakamura T, Hachiya R, Sasaki G, Homma K, Ishii T, Hasegawa T. Genetic defects in pediatric-onset adrenal insufficiency in Japan. Eur J Endocrinol. 2017;177,:187-194.
Hasegawa Y, Ariyasu D, Izawa M, Igaki-Miyamoto J, Fukuma M, Hatano M, Yagi H, Goto M. Gradually increasing ethinyl estradiol for Turner syndrome may produce good final height but not ideal BMD. Endocr J. 2017;64:221-227.
Nomura R, Miyai K, Kuge R, Okura T, Goto M, Hasegawa Y. Free T3 to free T4 ratio less than 2.0 suggests low T3 syndrome rather than central hypothyroidism from the age of two to eighteen years. Endocr J. 2017;64:213-219.
Nakamura Y, Takagi M, Takeda R, Miyai K, Hasegawa Y. Hypertension is a characteristic complication of X-linked hypophosphatemia. Endocr J. 2017;64:283-289.
Ariyasu D, Yoshida H, Hasegawa Y. Endoplasmic Reticulum (ER) Stress and Endocrine Disorders. Int J Mol Sci. 2017;18:E382.
Higuchi S, Takagi M, Hasegawa Y. Use of liothyronine without levothyroxine in the treatment of mild consumptive hypothyroidism caused by hepatic hemangiomas. Endocr J. 2017;64:639-643.
Miyoshi Y, Yorifuji T, Horikawa R, Takahashi I, Nagasaki K, Ishiguro H, Fujiwara I, Ito J, Oba M, Fujisaki H, Kato M, Shimizu C, Kato T, Matsumoto K, Sago H, Takimoto T, Okada H, Suzuki N, Yokoya S, Ogata T, Ozono K. Childbirth and fertility preservation in childhood and adolescent cancer patients: a second national survey of Japanese pediatric endocrinologists. Clin Pediatr Endocrinol 2017; 26: 81–88.
Wakeling EL, Brioude F, Lokulo-Sodipe O, O’Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Grønskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I. Diagnosis and management of Silver-Russell syndrome: first international consensus statement. Nat Rev Endocrinol 2017;13:105-124.
＊Mitani M, Ehara K, Araki K, Anzo M, Bamba M. Encephalopathy and pancreatitis in 3-year-old girl with Kawasaki disease. Pediatr Int. 2017;59:496-498.
Adachi M, Oto Y, Muroya K, Hanakawa J, Asakura Y, Goto H. Partial lipodystrophy in patients who have undergone hematopoietic stem cell transplantation during childhood: An institutional cross-sectional survey. Clin Pediatr Endocrinol 2017;26:99-108.
＊Tominaga T, Sato T, Ichihashi Y, Amano N, Kobayashi Y, Awazu M. Transient Fanconi syndrome in two preterm infants with hydronephrosis and urinary tract infection. CEN Case Rep. 2017;6:88-90.
＊Yamada Y, Shima H, Shibata H, Ishii T, Hasegawa T, Shimada H. Severe hypertriglyceridemia during treatment of acute lymphoblastic leukemia associated with type III hyperlipoproteinemia. Pediatric Blood & Cancer (in press)
Isojima T, Hasegawa T, Yokoya S, Tanaka T. The response to growth hormone treatment in prepubertal children with growth hormone deficiency in Japan: Comparing three consecutive years of treatment data of The Foundation for Growth Science in Japan between the 1990s and 2000s. Endor J (in press)
＊Kizu R, Nishimura K, Sato R, Kosaki K, Tanaka T, Tanigawara Y, Hasegawa T. Population Pharmacokinetics of Diazoxide in Children with Hyperinsulinemic Hypoglycemia. Hor Res Peadiatr (in press)
Uchida N, Amano N, Yamaoka Y, Uematsu A, Sekine Y, Suzuki M, Watanabe J, Nishimoto K, Mukai K, Fukuzawa R, Hasegawa T, Ishii T. A novel case of somatic KCNJ5 mutation in pediatric-onset aldosterone-producing adenoma. J Endocrine Society (in press)
Shozu M, Ishikawa H, Horikawa R, Sakakibara H, Izumi S, Ohba T, Hirota Y, Ogata T, Osuga Y, Kugu K. Nomenclature of primary amenorrhea- A proposal document of the Japan Society of Obstetrics and Gynecology committee for the redefinition of primary amenorrhea. J Obstet Gynaecol Res (in press).
Sugisawa C, Higuchi S, Takagi M, Hasegawa Y, Taniyama M, Abe K, Hasegawa T, Narumi S. Homozygous DUOXA2 mutation (p.Tyr138*) in a girl with congenital hypothyroidism and her apparently unaffected brother: Case report and review of the literature. Endocr J. (in press)
Itonaga T, Goto H, Toujigamori M, Ohno Y, Korematsu S, Izumi T, Narumi S, Hasegawa T, Ihara K. Three-Quarters Adrenalectomy for Infantile-Onset Cushing Syndrome due to Bilateral Adrenal Hyperplasia in McCune-Albright Syndrome. Horm Res Paediatr. (in press)
Fukami M, Suzuki E, Izumi Y, Torii T, Narumi S, Igarashi M, Miyado M , Katsumi M, Fujisawa Y, Nakabayashi K, Hata K, Umezawa A, Matsubara Y, Yamauchi J, Ogata T. Paradoxical gain-of-function mutant of the G-protein coupled receptor PROKR2 promotes early puberty. J Cell Mol Med. (in press)
Shima H, Ishii A, Wada Y, Kizawa J, Yokoi T, Azuma N, Matsubara Y, Suzuki E, Nakamura A, Narumi S, Fukami M. SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadism. Endocr J. (in press)
Ushijima K, Fukami M, Ayabe T, Narumi S, Okuno M, Nakamura A, Takahashi T, Ihara K, Ohkubo K, Tachikawa E, Nakayama S, Arai J, Kikuchi N, Kikuchi T, Kawamura T, Urakami T, Hata K, Nakabayashi K, Matsubara Y, Amemiya S, Ogata T, Yokota I, Sugihara S; Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes. Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin-requiring antibody-negative type 1 diabetes. Pediatr Diabetes. (in press)
Dateki S, Kagami M, Matsubara K, Izumi K, Watanabe S, Nakatomi A, Kondoh T, Fukami M, Moriuchi H. Maternally-derived 15q11.2-q13.1 Duplication and H19-DMR Hypomethylation in a Patient with Silver-Russell Syndrome. J Hum Genet. (in press)
Miyado M, Yoshida K, Miyado K, Katsumi M, Saito K, Nakamura S, Ogata T, Fukami M. Knockout of Murine Mamld1 Impairs Testicular Growth and Daily Sperm Production but Permits Normal Postnatal Androgen Production and Fertility. Int J Mol Sci. (in press)
Hattori A, Katoh-Fukui Y, Nakamura A, Matsubara K, Kamimaki T, Tanaka H, Dateki S, Adachi M, Muroya K, Yoshida S, Ida S, Mitani M, Nagasaki K, Ogata T, Suzuki E, Hata K, Nakabayashi, K, Matsubara Y, Narumi S, Tanaka T, Fukami M. Next Generation Sequencing-Based Mutation Screening of 86 Patients with Idiopathic Short Stature. Endocr J. (in press)
＊Kagami M, Nagasaki K, Kosaki R, Horikawa R, Naiki Y, Saitoh S, Tajima T, Yorifuji T, Numakura C, Mizuno S, Nakamura A, Matsubara K, Fukami M, Ogata T.Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients. Genet Med. (in press)
Sakakibara A, Hashimoto Y, Kawakita R, Hosokawa Y, Nagahara K, Hasegawa Y, Hoshino S, Nagasaka H, Yorifuji T. Diagnosis of congenital hyperinsulinism: Biochemical profiles during hypoglycemia. Pediatr Diabetes. (in press)
Hosokawa Y, Kawakita R, Yokoya S, Ogata T, Ozono K, Arisaka O, Hasegawa Y, Kusuda S, Masue M, Nishibori H, Sairenchi T, Yorifuji T. Efficacy and safety of octreotide for the treatment of congenital hyperinsulinism: a prospective, open-label clinical trial and an observational study in Japan using a nationwide registry. Endocr J. (in press)
Kuge R, Morikawa Y, Hasegawa Y. Relationship between Uric Acid and Dehydration in Children with Gastroenteritis. Pediatr Int. (in press)
Onda Y, Sugihara S, Ogata T, Yokoya S, Yokoyama T, Tajima N; Type 1 Diabetes (T1D) Study Group: Incidence and prevalence of childhood-onset type 1 diabetes in Japan: The T1D Study. Diabet Med. (in press)
Kitaoka T, Tajima T, Nagasaki K, Kikuchi T, Yamamoto K, Michigami T, Okada S, Fujiwara I, Kokaji M, Mochizuk Hi, Ogata T, Tatebayashi K, Watanabe A, Yatsuga S, Kubota T, Ozono K. Safety and Efficacy of Treatment with Asfotase Alfa in Patients with Hypophosphatasia (HPP): Results from Japanese Physician-Initiated Clinical Trial Clin Endocrinol. (in press)
＊Takeda R, Takagi M, Shinohara H, Futagawa H, Narumi S, Hasegawa T, Nishimura G, Yoshihashi H. Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica. Eur J Med Genet. (in press)
Handa A, Muroya K, Ishii T, Nishimura G. Additional Report on Moreno-Nishimura-Schmidt Overgrowth Syndrome. Am J Med Genet. (in press).
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. 2016;36:10908-10919.
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. 2016;38:959-963.
＊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;31:1257-1264.
Ouyang Q, Nakayama T, Baytas O, Davidson SM, Yang C, Schmidt M, Lizarraga SB, Mishra S, El-Quessny M, Niaz S, Gul Butt M, Imran Murtaza S, Javed A, Chaudhry HR, Vaughan DJ, Hill RS, Partlow JN, Yoo SY, Lam AT, 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 USA. 2016;113:E5598-E5607.
Jayaraman D, Kodani A, Gonzalez DM, Mancias JD, Mochida GH, Vagnoni C, Johnson J, Krogan N, Harper JW, Reiter JF, Yu TW, Bae BI, Walsh CA. Microcephaly proteins Wdr62 and Aspm define a mother centriole complex regulating centriole biogenesis, apical complex, and cell fate. Neuron. 2016;92:813-28.
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. 2016;138(3).
＊Takenouchi T, Kosaki K. Jacobsen syndrome, Braddock-Carey syndrome, and Beyond: Reflections on intellectual disability accompanied with thrombocytopenia. Am J Med Genet. 2016;170:2578-2579.
＊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;170:3249-3252. (Featured as Cover Image) ＊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;170:2587-2590.
＊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;170:2453-2456.
Ueda K, Serajee F, Huq AHM. Exome Sequencing Identifying Dual Mutations in Calcium Signaling Genes GNAO1 and ATP2B3 in a Patient with Early Infantile Epileptic Encephalopathy. J Pediatr Neurol. 2016.
Ueda K, Serajee F. Narcolepsy without Cataplexy Mimicking Psychiatric Illness. J Pediatr Neurol. 2016.
＊Kojima K, Rosenberg M, English BK. Sore throat and fever in a 4-year-old boy. Pediatr Rev. 2016;37:397-8.
Fujimura K, Mitsuhashi T, Takahashi T. Adverse Effects of Prenatal and Early Postnatal Exposure to Antiepileptic Drugs: Validation From Clinical and Basic Researches. Brain Dev. 2017;39:635-643.
Enokizono M, Aida N, Niwa T, Osaka H, Naruto T, Kurosawa K, Ohba C, Suzuki T, Saitsu H, Goto T, Matsumoto N. Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: a milder form of without typical molar tooth sign and vermian hypoplasia. J Neurol Sci. 2017;376:7-12.
Kuge R, Komori K, Miyama S. Recurrent lingual abscess in a child. Pediatr Infect Dis J. 2017;36:694-695.
Evrony GD, Cordero DR, Shen J, Partlow JN, Yu TW, Rodin RE, Hill RS, Coulter ME, Lam AN, Jayaraman D, Gerrelli D, Diaz DG, Santos C, Morrison V, Galli A, Tschulena U, Wiemann S, Martel MJ, Spooner B, Ryu SC, Elhosary PC, Richardson JM, Tierney D, Robinson CA, Chibbar R, Diudea D, Folkerth R, Wiebe S, Barkovich AJ, Mochida GH, Irvine J, Lemire EG, Blakley P, Walsh CA. Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome. Genome Res. 2017;27:1323-1335.
Nariai H, Beal J, Galanopoulou AS, Mowrey WB, Bickel S, Sogawa Y, Jehle R, Shinnar S, Moshé SL. Scalp EEG Ictal gamma and beta activity during infantile spasms: Evidence of focality. Epilepsia. 2017;58:882-892.
Goenka A, Jain V, Nariai H, Spiro AJ, Steinschneider M. Extended clinical spectrum of Anti NMDA receptor encephalitis in children: A case series. Pediatr Neurol. 2017;72:51-55.
Xu J, Marshall JJ, Fernandes HB, Nomura T, Copits BA, Procissi D, Mori S, Wang L, Zhu Y, Swanson GT, Contractor A. Complete Disruption of the Kainate Receptor Gene Family Results in Corticostriatal Dysfunction in Mice. Cell Rep. 2017;18:1848-1857.
＊Takenouchi T, Miwa T, Sakamoto Y, Sakaguchi Y, Uehara T, Takahashi T, Kosaki K. Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene. Am J Med Genet. 2017;173:1631-1634.
＊Takenouchi T, Kuchikata T, Yoshihashi H, Fujiwara M, Uehara T, Miyama S, Yamada S, Kosaki K. Diagnostic use of computational retrotransposon detection: Successful definition of pathogenetic mechanism in a ciliopathy phenotype. Am J Med Genet. 2017;173:1353-1357. (Featured as Cover Image)
＊Gabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, Rosenfeld JA, Shao Y, Craigen WJ, Schaaf CP, Rodriguez-Buritica D, Farach L, Friedman J, Thulin P, McLean SD, Nugent KM, Morton J, Nicholl J, Andrieux J, Stray-Pedersen A, Chambon P, Patrier S, Lynch SA, Kjaergaard S, Tørring PM, Brasch-Andersen C, Ronan A, van Haeringen A, Anderson PJ, Powis Z, Brunner HG, Pfundt R, Schuurs-Hoeijmakers JHM, van Bon BWM, Lelieveld S, Gilissen C, Nillesen WM, Vissers LELM, Gecz J, Koolen DA, Testa G, de Vries BBA. YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction. Am J Hum Genet. 2017;100:907-925.
Kajita H, Sakamoto Y, Takenouchi T, Miwa T, Takahashi T. Is that cranial deformity really due to sleeping position? Pediatr Int. 2017;59:494-496.
Tsuda K, Mukai T, Iwata S, Shibasaki J, Tokuhisa T, Ioroi T, Sano H, Yutaka N, Takahashi A, Takeuchi A, Takenouchi T, Araki Y, Sobajima H, Tamura M, Hosono S, Nabetani M, Iwata O; Baby Cooling Registry of Japan Collaboration Team. Therapeutic hypothermia for neonatal encephalopathy: a report from the first 3 years of the Baby Cooling Registry of Japan. Sci Rep. 2017;7:39508.
Olson HE, Kelly M, LaCoursiere CM, Pinsky R, Tambunan D, Shain C, Ramgopal S, Takeoka M, Libenson MH, Julich K, Loddenkemper T, Marsh ED, Segal D, Koh S, Salman MS, Paciorkowski AR, Yang E, Bergin AM, Sheidley BR, Poduri A. Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression. Ann Neurol. 2017;81:419-429.
El Achkar CM, Rosen-Sheidley B, O’Rourke D, Takeoka M, Poduri A. Compound heterozygosity with PRRT2: Pushing the phenotypic envelope in genetic epilepsies. Epilepsy & Behavior Case Reports. 2017;doi:10.1016/j.ebcr.2016.12.001.
Ueda K, Serajee F, Huq AHM. A mutation in the ACTA1 gene manifesting nemaline myopathy with CNS lesions. J Clin Neurol 2017;13:300-302. Ueda K, Jiang H. Spastic diplegia with nonperinatal asphyxia in pediatric population. Int Phys Med Rehab J. 2017;1:00020.
＊Kojima K, Schein R, Karna P. Herpes simplex virus infection in a premature infnant and complications. NeoReviews 2017;18:e309-e311.
＊Nakai Y, Jeong JW, Brown EC, Rothermel R, Kojima K, Kambara T, Shah A, Mittal S, Sood S, Asano E. Three-and four-dimensional mapping of speech and language in patients with epilepsy. Brain. 2017;140:1351-1370.
Ikeda A, Yamashita S, Tsuyusaki Y, Tanaka M, Tanaka Y, Hashiguchi A, Goto T. Peripheral nerve pathology at fixed stage in spinal muscular atrophy with respiratory distress type1 (SMARD1). Brain Dev. (in press)
Tomari T, Suzuki H, Miyama S. Intermittent erythema in an acute neuromuscular disorder. Pediatr Neurol. (in press)
Nakayama T, Wu J, Galvin-Parton P, Weiss J, Andriola MR, Hill RS, Vaughan DJ, El-Quessny M, Barry BJ, Partlow JN, Barkovich AJ, Ling J, Mochida GH. Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy. Hum Mutat. 2017 (in press)
Nariai H, Duberstein S, Shinnar S. Treatment of Epileptic Encephalopathies: Current State of the Art. J Child Neurol. 2017 (in press)
＊Sakaguchi Y, Uehara T, Suzuki H, Kosaki K, Takenouchi T. Truncating mutation in CSNK2B and myoclonic epilepsy. Hum Mutat. 2017 (in press)
＊Sakaguchi Y, Takenouchi T, Uehara T, Kishi K, Takahashi T, Kosaki K. Co-occurrence of Sturge-Weber Syndrome and Klippel-Trenaunay-Weber Syndrome Phenotype: Consideration of the Historical Aspect. Am J Med Genet. 2017 (in press)
＊Funata K, Shike T, Takenouchi T, Yamashita Y, Takahashi T. Respiratory arrest at the onset of idiopathic childhood occipital epilepsy of Gastaut. Brain Dev. 2017 (in press)
＊Takenouchi T, Minatogawa M, Tsuyusaki Y, Iwasaki F, Uehara T, Kurosawa K, Kosaki K, Curry CJ. Expansion of the phenotype of Kosaki overgrowth syndrome. Am J Med Genet. 2017 (in press)
＊Ohto T, Enokizono T, Tanaka R, Tanaka M, Suzuki H, Sakai A, Imagawa K, Fukushima H, Fukushima T, Sumazaki R, Uehara T, Takenouchi T, Kosaki K. A novel BBS10 mutation identified in a patient of Bardet-Biedl syndrome with violent emotional outbreak. Hum Genome Var. 2017 (in press)
＊Enokizono T, Ohto T, Tanaka R, Tanaka M, Suzuki H, Sakai A, Imagawa K, Fukushima H, Iwabuti A, Fukushima T, Sumazaki R, Uehara T, Takenouchi T, Kosaki K. Preaxial Polydactyly in an Individual with Wiedemann-Steiner Syndrome caused by a Novel Nonsense Mutation in KMT2A. Am J Med Genet. 2017 (in press)
Guerriero RM, Patel A, Walsh B, Baumer FM, Shah AS, Peters J, Rodan LH, Agrawal PB, Pearl PL, Takeoka M. Reversible retinopathy and systemic manifestations in P5P dependent epilepsy. Pediatr Neurol. (in press)
Tarui T, Madan M, Farhat N, Kitano R, Tanritanir A, Graham G, Gagoski B, Craig A, Rollins C, Ortinau C, Iyer V, Pienaar R, Bianchi DW, Grant PE, Im K. Disorganized patterns of sulcal position in fetal brains with agenesis of corpus callosum. Cereb Cortex. 2017 (in press)
Tarui T, Kim A, Flake A, McClain L, Stratigis J, Fried I, Newman R, Slonim DK, Bianchi DW. Amniotic fluid transcriptomics reflects novel disease mechanisms in fetuses with myelomeningocele. Am J Obstet Gynecol. 2017 (in press)
Ueda K, Serajee F, Rajlich J, Taraman S, Steckling L, Huq AHM. Sibling response to initial antiepileptic medication predicts treatment success. Epilepsy Res. 2017 (in press) Ueda K, Serajee F, Huq AHM. Clinical benefit of NMDA receptor antagonists in a patient with ATP1A2 gene mutation. Pediatrics. 2017 (in press)
Ueda K, Sood S, Asano E, Kumar A, Luat AF. Elimination of medically intractable epileptic drop attacks following endoscopic total corpus callosotomy in Rett syndrome. Childs Nerv Syst. 2017 (in press)
Thusang K, Ueda K, Agarwal R. Type III spinal cord arteriovenous malformation with good post-surgical outcome. Pediatr Neurol. 2017 (in press)
＊Kojima K, Nimtz J, Martin SW, Guertin SR, Cavenagh EC. Paravertebral calcification as a potential indicator for nonaccidental trauma. J Radiol Case Rep. (in press)
＊Kojima K, Mckinley K, Donohue P, Sigal Y. The high prevalence of inappropriate feeding among infants presenting with an apparent life-threatening event. Turk J Pediatr. (in press)
＊Alsaedi H, Kojima K, Scott-Emuakpor A. Suspected sudden visual loss in a 2-year-old girl. Pediatr Rev. (in press)
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;31:2127-2136.
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;4:1227-1231.
＊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 A. 2016;170: 3249-3252.
Okubo Y, Nochioka K, Sakakibara H, Hataya H, Terakawa T, Testa M, Sundel RP. Nationwide epidemiological survey of childhood IgA vasculitis associated hospitalization in the USA. Clin Rheumatol. 2016;35: 2749-2756.
Hirano D, Ishikura K, Uemura O, Ito S, Wada N, Hattori M, Ohashi Y, Hamasaki Y, Tanaka R, Nakanishi K, Kaneko T, Honda M; Pediatric CKD Study Group in Japan in conjunction with the Committee of Measures for Pediatric CKD of the Japanese Society of Pediatric Nephrology. 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. Nephrol Dial Transplant. 2016;31: 1895-1900.
Hattori M, Iwano M, Sako M, Honda M, Okada H, Akioka Y, Ashida A, Kawasaki Y, Kiyomoto H, Terada Y, Hirano D, Fujieda M, Fujimoto S, Masaki T, Maruyama S, Mastuo S. Transition of adolescent and young adult patients with childhood-onset chronic kidney disease from pediatric to adult renal services: a nationwide survey in Japan. Clin Exp Nephrol. 2016; 20: 918-925.
Yokota K, Nozu K, Minamikawa S, Yamamura T, Nakanishi K, Kaneda H, Hamada R, Nozu Y, Shono A, Ninchoji T. Morisada N, Ishimori S, Fujimura J, Horinouchi T, Kaito H, Nakanishi K, Morioka I, Taniguchi-Ikeda M, Iijima K. Female X-linked Alport syndrome with somatic mosaicism. Clin Exp Nephrol. 2016 Oct 31. [Epub ahead of print]
Hamasaki Y, Komaki F, Ishikura K, Hamada R, Sakai T, Hataya H, Ogata K, Ando T, Honda M. Nephrotoxicity in children with frequently relapsing nephrotic syndrome receiving long-term cyclosporine treatment Pediatr Nephrol. 2017;32: 1383-1390.
Uemura O, Yokoyama H, Ishikura K, Gotoh Y, Sato H, Sugiyama H, Honda M, Matsuo S. Performance in adolescents of the two Japanese serum creatinine based estimated glomerular filtration rate equations, for adults and paediatric patients: A study of the Japan Renal Biopsy Registry and Japan Kidney Disease Registry from 2007 to 2013. Nephrology (Carlton). 2017;22: 494-497.
Nakano M, Uemura O, Honda M, Ito T, Nakajima Y, Saitoh S. Development of tandem mass spectrometry-based creatinine measurement using dried blood spot for newborn mass screening. Pediatr Res. 2017 May 17. [Epub ahead of print]
Terano C, Ishikura K, Hamada R, Yoshida Y, Kubota W, Okuda Y, Shinozuka S, Harada R, Iyoda S, Fujimura Y, Hamasaki Y, Hataya H, Honda M. Practical issues in using eculizumab for children with atypical hemolytic uremic syndrome in the acute phase: a review of 4 patients. Nephrology (Carlton). 2017 Apr 7. [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. 2017;21: 651-657.
Nishimura N , Kasahara M, Ishikura K, Nakagawa S. Current status of pediatric transplantation in Japan. J Intensive Care . 2017;5: 48.
Sato M, K;amei K, Ogura M, Ishikura K, Ito S. Relapse of nephrotic syndrome during post-rituximab peripheral blood B-lymphocyte depletion. Clin Exp Nephrol. 2017 Apr 22. [Epub ahead of print]
Kanazawa H, Fukuda A, Sato M, Ishimori S, Sasaki K, Uchida H, Shigeta T, Mali VP, Sakamoto S, Ishikura K, Kasahara M. Successful resumption of peritoneal dialysis following living donor liver transplantation in children with end-stage renal disease. Pediatric Transplantation. 2017;21: e12897.
Hayakawa I, Sakakibara H, Atsumi Y, Hataya H, Terakawa T. Tachycardia may prognosticate life- or organ-threatening diseases in children with abdominal pain. Am J Emerg Med. 2017; 35: 819-822.
Yoshikawa T, Kamei K, Nagata H, Saida K, Sato M, Ogura M, Ito S, Miyazaki O, Urushihara M, Kondo S, Sugawara N, Ishizuka K, Hamasaki Y, Shishido S, Morisada N, Iijima K, Nagata M, Yoshioka T, Ogata K, Ishikura K. Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports. Nephrology (Carlton). 2017;22: 566-571.
Suzuki S, Kotani T, Mori K, Kawamura K, Ohtake A. Preoperative urinary tract obstruction in scoliosis patients. Pediatr Int. 2017;59: 48-52.
Higuchi Y, Kubo T, Mitsuhashi T, Nakamura N, Yokota I, Komiyama O, Kamimaki I, Yamamoto S, Uchida Y, Watanabe K, Yamashita H, Tanaka S, Iguchi K, Ichimi R, Miyagawa S, Takayanagi T, Koga H, Shukuya A, Saito A, Horibe K. Clinical epidemiology and treatment of febrile and afebrile convulsions with mild gastroenteritis: a multicenter study. Pediatr Neurol. 2017; 67:78-84
＊Awazu M, Arai M, Ohashi S, Takahashi H, Sekine T, Ikeda K. Tubular dysfunction mimicking Dent’s disease in 2 infants born with extremely low birth weight. Case Reports in Nephrology and Dialysis. 2017;7:13-17.
Asada N, Tsukahara T, Furuhata M, Noda S, Naganum K, Hashiguchi A, Awazu M. Polycythemia and peritubular capillary rarefaction in two adolescents born very prematurely. Pediatr Nephrol. 2017;32:1275-1278, 2017.
＊Tominaga T, Sato T, Ichihashi Y, Amano N, Kobayashi Y, Awazu M. Transient Fanconi syndrome in two preterm infants with hydronephrosis and urinary tract infection. CEN Case Rep. 2017;6:88-90.
＊Awazu M, Nagata M, Hida M. BMP7 dose-dependently stimulates proliferation and cadherin-11 expression via ERK and p38 in a murine metanephric mesenchymal cell line. Physiol Rep. 2017;5:e13378.
Awazu M. Mitogen-activated protein kinases in the development of normal and diseased kidneys. Child Kidney Dis. 2017;21:1-7.
Fujita H, Matsuoka S, Awazu M. Masked isolated nocturnal hypertension in children and young adults. Pediatr Cardiol. (in press)
Shima H, Isshiki K, Yamada Y, Yamazaki F, Takahashi T, Shimada H. Successful haploidentical BMT with post-transplant cyclophosphamide for refractory autoimmune pancytopenia after cord blood transplant in pediatric myelodysplastic syndrome. Bone Marrow Transplant. 2017;52:653-655.
Shima H, Kiyokawa N, Miharu M, Tanizawa A, Kurosawa H, Watanabe A, Ito M, Tono C, Yuza Y, Muramatsu H, Hotta N, Okada M, Hamamoto K, Kajiwara R, Saito AM, Horibe K, Mizutani S, Adachi S, Ishii E, Shimada H. Flow cytometric analysis as an additional predictive tool of treatment response in chronic-phase CML children treated with imatinib. Pediatr Blood Cancer. 2017 Feb 24. [Epub ahead of print]
Kodama Y, Manabe A, Kawasaki H, Kato I, Kato K, Sato A, Matsumoto K, Kato M, Hiramatsu H, Sano H, Kaneko T, Oda M, Saito AM, Adachi S, Horibe K, Mizutani S, Ishii E, Shimada H. Salvage therapy for children with relapsed or refractory Philadelphia chromosome-positive acute lymphoblastic leukemia. Pediatr Blood Cancer. 2017;64(8).
＊Yamada Y, Shima H, Shibata H, Ishii T, Hasegawa T, Shimada H. Severe hypertriglyceridemia during treatment of acute lymphoblastic leukemia associated with type III hyperlipoproteinemia. Pediatr Blood Cancer. 2017 Apr 1. [Epub ahead of print]
Yamada Y, Osumi T, Imadome KI, Takahashi E, Ohye T, Yoshikawa T, Tomizawa D, Kato M, Matsumoto K. Transmission of chromosomally integrated human herpesvirus 6 via cord blood transplantation. Transpl Infect Dis. 2017;19. Epub.
Osumi T, Kato M, Ouchi-Uchiyama M, Tomizawa D, Kataoka K, Fujii Y, Seki M, Takita J, Ogawa S, Uchiyama T, Ohki K, Kiyokawa N. Blastic transformation of juvenile myelomonocytic leukemia caused by the copy number gain of oncogenic KRAS. Pediatr Blood Cancer. 2017;64(9). Epub.
Kato M, Ishimaru S, Seki M, Yoshida K, Shiraishi Y, Chiba K, Kakiuchi N, Sato Y, Ueno H, Tanaka H, Inukai T, Tomizawa D, Hasegawa D, Osumi T, Arakawa Y, Aoki T, Okuya M, Kaizu K, Kato K, Taneyama Y, Goto H, Taki T, Takagi M, Sanada M, Koh K, Takita J, Miyano S, Ogawa S, Ohara A, Tsuchida M, Manabe A. Long-term outcome of 6-month maintenance chemotherapy for acute lymphoblastic leukemia in children. Leukemia. 2017;31:580-584.
Kobayashi R, Tanaka F, Nakazawa A, Ueyama JI, Sunami S, Mitsui T, Koga Y, Mori T, Osumi T, Fukano R, Ohki K, Sekimizu M, Fujita N, Kamei M, Mori T; Lymphoma Committee and Japanese Pediatric Leukemia/Lymphoma Study Group. Pediatric follicular lymphoma in Japan. Int J Hematol. 2017;105:849-853
Osumi T, Tanaka F, Mori T, Fukano R, Tsurusawa M, Oshima K, Nakazawa A, Kobayashi R. Primary mediastinal large B-cell lymphoma in Japanese children and adolescents. Int J Hematol. 2017;105:440-444.
Kobayashi R, Mitsui T, Fujita N, Osumi T, Aoki T, Aoki K, Suzuki R, Fukuda T, Miyamoto T, Kato K, Nakamae H, Goto H, Eto T, Inoue M, Mori T, Terui K, Onizuka M, Koh K, Koga Y, Ichinohe T, Sawada A, Atsuta Y, Suzumiya J. Outcome differences between children and adolescents and young adults with non-Hodgkin lymphoma following stem cell transplantation. Int J Hematol. 2017;105:369-376.
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;63:1794-9.
Hirabayashi S, Ohki K, Nakabayashi K, Ichikawa H, Momozawa Y, Okamura K, Yaguchi A, Terada K, Saito Y, Yoshimi A, Ogata-Kawata H, Sakamoto H, Kato M, Fujimura J, Hino M, Kinoshita A, Kakuda H, Kurosawa H, Kato K, Kajiwara R, Moriwaki K, Morimoto T, Nakamura K, Noguchi Y, Osumi T, Sakashita K, Takita J, Yuza Y, Matsuda K, Yoshida T, Matsumoto K, Hata K, Kubo M, Matsubara Y, Fukushima T, Koh K, Manabe A, Ohara A, Kiyokawa N; Tokyo Children’s Cancer Study Group (TCCSG). ZNF384-related fusion genes define a subgroup of childhood B-cell precursor acute lymphoblastic leukemia with a characteristic immunotype. Haematologica. 2017;102:118-129.
Kato I, Nishinaka Y, Nakamura M, Akarca AU, Niwa A, Ozawa H, Yoshida K, Mori M, Wang D, Morita M, Ueno H, Shiozawa Y, Shiraishi Y, Miyano S, Gupta R, Umeda K, Watanabe K, Koh K, Adachi S, Heike T, Saito MK, Sanada M, Ogawa S, Marafioti T, Watanabe A, Nakahata T, Enver T. Hypoxic adaptation of leukemic cells infiltrating the CNS affords a therapeutic strategy targeting VEGFA. Blood. 2017;129:3126-312.
Aoki T, Koh K, Arakawa Y, Mori M, Oguma E, Hanada R. Reversible Cerebral Vasoconstriction Syndrome during Chemotherapy for Acute Lymphoblastic Leukemia. J Pediatr. 2017 Jan;180:284.
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;32:845-50.
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;22:1725-1728.
Fukano R, Sunami S, Sekimizu M, Takimoto T, Mori T, Mitsui T, Mori T, Saito AM, Watanabe T, Ohshima K, Fujimoto J, Nakazawa A, Kiyokawa N, Kobayashi R, Horibe K, Tsurusawa M. Clinical Features and Prognosis According to Immunophenotypic Subtypes Including the Early T-Cell Precursor Subtype of T-Lymphoblastic Lymphoma in the Japanese Pediatric Leukemia/Lymphoma Study Group ALB-NHL03 Study. J Pediatr Hematol Oncol. 2017 May 22. [Epub ahead of print]
Keino D, Kondoh K, Ohyama R, Morimoto M, Mori T, Ito M, Kinoshita A. Hypocellular acute myeloid leukemia treated with bone marrow transplantation. Pediatr Int. 2017;59:490-493.
Yamato G, Shiba N, Yoshida K, Shiraishi Y, Hara Y, Ohki K, Okubo J, Okuno H, Chiba K, Tanaka H, Kinoshita A, Moritake H, Kiyokawa N, Tomizawa D, Park MJ, Sotomatsu M, Taga T, Adachi S, Tawa A, Horibe K, Arakawa H, Miyano S, Ogawa S, Hayashi Y. ASXL2 mutations are frequently found in pediatric AML patients with t(8;21)/ RUNX1-RUNX1T1 and associated with a better prognosis. Genes Chromosomes Cancer. 2017;56:382-393.
Hara Y, Shiba N, Ohki K, Tabuchi K, Yamato G, Park MJ, Tomizawa D, Kinoshita A, Shimada A, Arakawa H, Saito AM, Kiyokawa N, Tawa A, Horibe K, Taga T, Adachi S, Taki T, Hayashi Y. Prognostic impact of specific molecular profiles in pediatric acute megakaryoblastic leukemia in non-Down syndrome. Genes Chromosomes Cancer. 2017;56:394-404.
Nagao A, Hanabusa H. Brief Report: The Impact of Ledipasvir/Sofosbuvir on HIV-Positive and HIV-Negative Japanese Hemophilia Patients With 1, 4, and Mixed-Genotype HCV. J Acquir Immune Defic Syndr. 2017;74:418-422.
Giangrande P, Andreeva T, Chowdary P, Ehrenforth S, Hanabusa H, Leebeek FW, Lentz SR, Nemes L, Poulsen LH, Santagostino E, You CW, Clausen WH, Jönsson PG, Oldenburg J; Pathfinder™2 Investigators. Clinical evaluation of glycoPEGylated recombinant FVIII: Efficacy and safety in severe haemophilia A. Thromb Haemost. 2017;117:252-261.
Fujii T, Hanabusa H, Shima M, Morinaga T, Fukutake K. Analysis of the Japanese subgroup in LEOPOLD II: a phase 2/3 study of BAY 81-8973, a new recombinant factor VIII product. Int J Hematol. 2017;105:280-286.
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. 2017;23:59-66.
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. 2017;44:e3-e4.
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. 2017;19:208-213.
Farge T, Saland E, de Toni F, Aroua N, Hosseini M, Perry R, Bosc C, Sugita M, Stuani L, Fraisse M, Scotland S, Larrue C, Boutzen H, Féliu V, Nicolau-Travers ML, Cassant-Sourdy S, Broin N, David M, Serhan N, Sarry A, Tavitian S, Kaoma T, Vallar L, Iacovoni J, Linares LK, Montersino C, Castellano R, Griessinger E, Collette Y, Duchamp O, Barreira Y, Hirsch P, Palama T, Gales L, Delhommeau F, Garmy-Susini BH, Portais JC, Vergez F, Selak M, Danet-Desnoyers G, Carroll M, Récher C, Sarry JE. Chemotherapy-Resistant Human Acute Myeloid Leukemia Cells Are Not Enriched for Leukemic Stem Cells but Require Oxidative Metabolism. Cancer Discov. 2017;7:716-735
Cruz NM, Sugita M, Ewing-Crystal N, Lam L, Galetto R, Gouble A, Smith J, Hassane DC, Roboz GJ, Guzman ML. Selection and characterization of antibody clones are critical for accurate flow cytometry-based monitoring of CD123 in acute myeloid leukemia. Leuk Lymphoma. 2017 Aug 10:1-5. [Epub ahead of print]
Shimasaki N, Coustan-Smith E, Kamiya T, Campana D.Expanded and armed natural killer cells for cancer treatment. Cytotherapy. 2016;18:1422-1434.
Mimura K, Kua LF, Shimasaki N, Shiraishi K, Nakajima S, Siang LK, Shabbir A, So J, Yong WP, Kono K. Upregulation of thioredoxin-1 in activated human NK cells confers increased tolerance to oxidative stress. Cancer Immunol Immunother. 2017;66:605-613.
Yeap WH, Wong KL, Shimasaki N, Teo EC, Quek JK, Yong HX, Diong CP, Bertoletti A, Linn YC, Wong SC. CD16 is indispensable for antibody-dependent cellular cytotoxicity by human monocytes. Sci Rep. 2016;6:34310.
Koh S, Shimasaki N, Bertoletti A. Redirecting T Cell Specificity Using T Cell Receptor Messenger RNA Electroporation. Methods Mol Biol. 2016;1428:285-96.
Yoshihara H, Kumamoto T, Ono R, Akahane K, Nozaki T, Kobayashi S, Kikuta A, Matsumoto S, Hasegawa D, Ogawa C, Manabe A. Haploidentical hematopoietic cell transplantation for disseminated Ewing sarcoma. Pediatr Int. 2017;59:223-226.
Daida A, Yoshihara H, Inai I, Hasegawa D, Ishida Y, Urayama KY, Manabe A. Risk Factors for Hospital-acquired Clostridium difficile Infection Among Pediatric Patients With Cancer. J Pediatr Hematol Oncol. 2017 Apr;39(3):e167-e172
Zhang J, McCastlain K, Yoshihara H, Xu B, Chang Y, Churchman ML, Wu G, Li Y, Wei L, Iacobucci I, Liu Y, Qu C, Wen J, Edmonson M, Payne-Turner D, Kaufmann KB, Takayanagi SI, Wienholds E, Waanders E, Ntziachristos P, Bakogianni S, Wang J, Aifantis I, Roberts KG, Ma J, Song G, Easton J, Mulder HL, Chen X, Newman S, Ma X, Rusch M, Gupta P, Boggs K, Vadodaria B, Dalton J, Liu Y, Valentine ML, Ding L, Lu C, Fulton RS, Fulton L, Tabib Y, Ochoa K, Devidas M, Pei D, Cheng C, Yang J, Evans WE, Relling MV, Pui CH, Jeha S, Harvey RC, Chen IL, Willman CL, Marcucci G, Bloomfield CD, Kohlschmidt J, Mrózek K, Paietta E, Tallman MS, Stock W, Foster MC, Racevskis J, Rowe JM, Luger S, Kornblau SM, Shurtleff SA, Raimondi SC, Mardis ER, Wilson RK, Dick JE, Hunger SP, Loh ML, Downing JR, Mullighan CG; St. Jude Children’s Research Hospital–Washington University Pediatric Cancer Genome Project. Deregulation of DUX4 and ERG in acute lymphoblastic leukemia. Nat Genet. 2016 Dec;48(12):1481-1489
＊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;31:1717-23. 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. 2016;56:217-25.
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;170:1863-67. 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. 2017;44:102-03.
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. 2016:92:270-80.
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;17:52.
＊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;170:2587-90.
＊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;170:3249-52.
＊Takenouchi T, Kosaki K. Jacobsen syndrome, Braddock-Carey syndrome, and beyond: Reflections on intellectual disability accompanied with thrombocytopenia. Am J Med Genet. 2016;170:2578-79.
Tsutsumi M, Yokoi S, Miya F, Miyata M, Kato M, Okamoto N, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S, Kurahashi H. Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy. Eur J Hum Genet. 2016;24:1702-06.
Hamada N, Negishi Y, Mizuno M, Miya F, Hattori A, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Tabata H, Saitoh S, Nagata KI. Role of a heterotrimeric G-protein, Gi2, in the corticogenesis: possible involvement in periventricular nodular heterotopia and intellectual disability. J Neurochem. 2017;140:82-95.
Kimura M, Fujisawa T, Aizawa Y, Matsuhashi N, Ito S, Nakajima K, Kashimura S, Kunitomi A, Katsumata Y, Nishiyama T, Kimura T, Nishiyama N, Yuasa S, Takatsuki S, Kosaki K, Fukuda K. An RyR2 mutation found in a family with a short-coupled variant of torsade de pointes. Int J Cardiol. 2017;227:367-69.
Kosaki R, Terashima H, Kubota M, Kosaki K. Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation. Am J Med Genet A. 2017;173:250-53.
＊Okuno H, Nakabayashi K, Abe K, Ando T, Sanosaka T, Kohyama J, Akamatsu W, Ohyama M, Takahashi T, Kosaki K, Okano H. Changeability of the fully methylated status of the 15q11.2 region in induced pluripotent stem cells derived from a patient with Prader-Willi syndrome. Congenit Anom (Kyoto). 2017;57:96-103.
＊Kimura M, Kohno T, Aizawa Y, Inohara T, Shiraishi Y, Katsumata Y, Egashira T, Fukushima H, Kosaki K, Fukuda K. A Novel SCN5A Mutation Found in a Familial Case of Long QT Syndrome Complicated by Severe Left Ventricular Dysfunction. Can J Cardiol. 2017;33:554.e5-e7.
Negishi Y, Miya F, Hattori A, Johmura Y, Nakagawa M, Ando N, Hori I, Togawa T, Aoyama K, Ohashi K, Fukumura S, Mizuno S, Umemura A, Kishimoto Y, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Nakanishi M, Saitoh S. A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. BMC Med Genet. 2017;18:4.
＊Takenouchi T, Kuchikata T, Yoshihashi H, Fujiwara M, Uehara T, Miyama S, Yamada S, Kosaki K. Diagnostic Use of Computational Retrotransposon Detection: Successful Definition of Pathogenetic Mechanism in Ciliopathy Phenotype. Am J Med Genet A. 2017;173:1353-57.
Mutai H, Watabe T, Kosaki K, Ogawa K, Matsunaga T. Mitochondrial mutations in maternally inherited hearing loss. BMC Med Genet. 2017;18:32.
Okamoto N, Miya F, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K. Novel MCA/ID syndrome with ASH1L mutation. Am J Med Genet A. 2017;173:1644-48.
＊Takenouchi T, Miwa T, Sakamoto Y, Sakaguchi Y, Uehara T, Takahashi T, Kosaki K. Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene. Am J Med Genet A. 2017;173:1631-34.
Baynam G, Broley S, Bauskis A, Pachter N, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Schofield L, Helmholz P, Palmer R, Kung S, Walker CE, Molster C, Lewis B, Mina K, Beilby J, Pathak G, Poulton C, Groza T, Zankl A, Roscioli T, Dinger ME, Mattick JS, Gahl W, Groft S, Tifft C, Taruscio D, Lasko P, Kosaki K, Wilhelm H, Melegh B, Carapetis J, Jana S, Chaney G, Johns A, Owen PW, Daly F, Weeramanthri T, Dawkins H, Goldblatt J. Initiating an undiagnosed diseases program in the Western Australian public health system. Orphanet J Rare Dis. 2017;12:83. doi: 10.1186/s13023-017-0619-z.
Kato K, Miya F, Hori I, Ieda D, Ohashi K, Negishi Y, Hattori A, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S. A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate. J Hum Genet. 2017 (in press)
＊Gabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, Rosenfeld JA, Shao Y, Craigen WJ, Schaaf CP, Rodriguez-Buritica D, Farach L, Friedman J, Thulin P, McLean SD, Nugent KM, Morton J, Nicholl J, Andrieux J, Stray-Pedersen A, Chambon P, Patrier S, Lynch SA, Kjaergaard S, Tørring PM, Brasch-Andersen C, Ronan A, van Haeringen A, Anderson PJ, Powis Z, Brunner HG, Pfundt R, Schuurs-Hoeijmakers JHM, van Bon BWM, Lelieveld S, Gilissen C, Nillesen WM, Vissers LELM, Gecz J, Koolen DA, Testa G, de Vries BBA. YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction. Am J Hum Genet. 2017;100:907-25
Hori I, Otomo T, Nakashima M, Miya F, Negishi Y, Shiraishi H, Nonoda Y, Magara S, Tohyama J, Okamoto N, Kumagai T, Shimoda K, Yukitake Y, Kajikawa D, Morio T, Hattori A, Nakagawa M, Ando N, Nishino I, Kato M, Tsunoda T, Saitsu H, Kanemura Y, Yamasaki M, Kosaki K, Matsumoto N, Yoshimori T, Saitoh S. Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement. Sci Rep. 2017;7:3552
Okamoto N, Miya F, Hatsukawa Y, Suzuki Y, Kawato K, Yamamoto Y, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K. Siblings with optic neuropathy and RTN4IP1 mutation. J Hum Genet. 2017 (in press)
＊Takenouchi T, Minatogawa M, Tsuyusaki Y, Iwasaki F, Uehara T, Kurosawa K, Kosaki K, Curry CJ. Expansion of the phenotype of Kosaki overgrowth syndrome. Am J Med Genet. 2017 (in press)
＊Kizu R, Nishimura K, Sato R, Kosaki K, Tanaka T, Tanigawara Y, Hasegawa T. Population Pharmacokinetics of Diazoxide in Children with Hyperinsulinemic Hypoglycemia. Horm Res Paediatr. 2017 (in press)
＊Sakaguchi Y, Takenouchi T, Uehara T, Kishi K, Takahashi T, Kosaki K. Co-occurrence of Sturge-Weber syndrome and Klippel-Trenaunay-Weber syndrome phenotype:Consideration of the historical aspect. Am J Med Genet A. 2017 (in press)
＊Enokizono T, Ohto T, Tanaka R, Tanaka M, Suzuki H, Sakai A, Imagawa K, Fukushima H, Iwabuti A, Fukushima T, Sumazaki R, Uehara T, Takenouchi T, Kosaki K. Preaxial polydactyly in an individual with Wiedemann-Steiner Syndrome caused by a novel nonsense mutation in KMT2A. Am J Med Genet. 2017(in press)
＊Sakaguchi Y, Uehara T, Suzuki H, Kosaki K, Takenouchi T. Truncating mutation in CSNK2B and myoclonic epilepsy. Human Mutation. 2017(in press)
Okamoto N, Tsuchiya Y, Miya F, Tsunoda T, Yamashita K, Boroevich KA, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K, Kitagawa D. A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology. Am J Med Genet A. 2017(in press)
＊Ohto T, Enokizono T, Tanaka R, Tanaka M, Suzuki H, Sakai A, Imagawa K, Fukushima H, Fukushima T, Sumazaki R, Uehara T, Takenouchi T, Kosaki K. A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak. Hum Genome Var. 2017(in press)
Ohta S, Yaguchi T, Okuno H, Chneiweiss H, Kawakami Y, Okano H. CHD7 promotes proliferation of neural stem cells mediated by MIF. Mol Brain. 2016 ;9(1):96.
Veraitch O, Mabuchi Y, Matsuzaki Y, Sasaki T, Okuno H, Tsukashima A, Amagai M, Okano H, Ohyama M. Induction of hair follicle dermal papilla cell properties in human induced pluripotent stem cell-derived multipotent LNGFR (+) THY-1 (+) mesenchymal cells. Sci Rep. 2017;7: 42777.
＊Kimiya T, Sekiguchi S, Yagihashi T, Arai M, Takahashi H, Takahashi T. A sedation protocol with fasting and shorter sleep leads to MRI success. Pediatr Int. 2016 (in press)
＊Kagami M, Nagasaki K, Kosaki R, Horikawa R, Naiki Y, Saitoh S, Tajima T, Yorifuji T, Numakura C, Mizuno S, Nakamura A, Matsubara K, Fukami M, Ogata T.Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients. Genet Med. (in press)
＊Takeda R, Takagi M, Shinohara H, Futagawa H, Narumi S, Hasegawa T, Nishimura G, Yoshihashi H. Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica. Eur J Med Genet. (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;170:2453-2456.
Takano H, Ishihara T, Kosuga M, Okuyama T. A Senile Case of Late-onset Pompe’s Disease. Intern Med. 2016;55(18):2723-2725.
Matsubara Y, Miyazaki O, Kosuga M, Okuyama T, Nosaka S. Cerebral magnetic resonance findings during enzyme replacement therapy in mucopolysaccharidosis. Pediatr Radiol. 2017 Jul 21.
Matsuoka T, Miwa Y, Tajika M, Sawada M, Fujimaki K, Soga T, Tomita H, Uemura S, Nishino I, Fukuda T, Sugie H, Kosuga M, Okuyama T, Umeda Y. Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state. Mol Genet Metab Rep. 2016;18;9:98-105.
Mashima R, Okuyama T. Enzyme activities of α-glucosidase in Japanese neonates with pseudodeficiency alleles. Mol Genet Metab Rep. 2017;12:110-114.
Yamamoto T, Shimojima K, Matsufuji M, Mashima R, Sakai E, Okuyama T. Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan. Brain Dev. 2017;39:422-425. Saito S, Ohno K, Okuyama T, Sakuraba H. Structural Basis of Mucopolysaccharidosis Type II and Construction of a Database of Mutant Iduronate 2-Sulfatases. PLoS One. 2016 Oct 3;11(10):e0163964.
Yoshida M, Adachi Y, Sasaki M, Akashi M, Itazawa T, Odajima H, Akasawa A. Ultraviolet index is associated with childhood eczema prevalence: Sex and age differences. Pediatr Allergy Immunol. 2017: 28: 391-393.
Akashi M, Yasudo H, Narita M, Nomura I, Akasawa A, Ebisawa M, Takahashi T, Ohya Y. Randomized controlled trial of oral immunotherapy for egg allergy in Japanese patients. Pediatr Int. 2017: 59: 534-539.
Morita H, Suzuki H, Orihara K, Motomura K, Matsuda A, Ohya Y, Saito H, Nomura I, Matsumoto K. Food protein-induced enterocolitis syndromes with and without bloody stool have distinct clinicopathological features. J Allergy Clin Immunol. 2017 (in press)
Trabanelli S, Chevalier M, Usatorre A, Gomez-Cadena A, Salome B, Lecciso M, Salvestrini V, Verdeil G, Racle J, Papayannidis C, Morita H, Pizzitola I, Grandciement C, Bohner P, Bruni E, Girotra M, Pallavi R, Falvo P, Leibundgut E, Baerlocher G, Carlo-Stella C, Taurino D, Santoro A, Spinelli O, Rambaldi A, Giarin E, Basso G, Tresoldi C, Ciceri F, Gfeller D, Akdis CA, Mazzarella L, Minucci S, Pelicci P, Marcenaro E, McKenzie AJ, Vanhecke D, Coukos G, Mavillio D, Curti A, Derre L, Jandus C. Tumor-derived PGD2 and NKp30-B7H6 engagement drives and immunosuppressive ILC2-MDSC axis. Nat Commun. 2017 (in press)
Motomura K, Okada N, Morita H, Hara M, Tamari M, Orimo K, Matsuda G, Imadome KI, Matsuda A, Nagamatsu T, Fujieda M, Sago H, Saito H, Matsumoto K. A Rho-associated coiled-coil containing kinase (ROCK) inhibitor, Y-27632, enhances adhesion, viability and differentiation of human term placenta-derived trophoblasts in vitro. PLoS One. 2017;12:e0177994.
Morita H, Nakae S, Saito H, Matsumoto K. IL-33 in clinical practice: Size matters? J Allergy Clin Immunol. 2017;140:381-383.
Li S, Morita H, Rückert B, Boonpiyathad T, Neumann A, Akdis CA. Type 3 innate lymphoid cells induce proliferation of CD94+ natural killer cells. J Allergy Clin Immunol. 2017 (in press)
Sugita K, Steer CA, Martinez-Gonzalez I, Altunblakli C, Morita H, Castro-Giner F, Kubo T, Wawrzyniak P, Rückert B, Sudo K, Nakae S, Matsumoto K, O’Mahony L, Akdis M, Takei F, Akdis CA. Type 2 innate lymphoid cells disrupt bronchial epithelial barrier integrity by targeting tight junctions through IL-13 in asthmatic patients. J Allergy Clin Immunol. 2017 (in press)
Toyama S, Okada N, Matsuda A, Morita H, Saito H, Fujisawa T, Nakae S, Karasuyama H, Matsumoto K. Human eosinophils constitutively express a unique serine protease, PRSS33. Allergol Int. 2017;66:463-471.
Morita H, Moro K, Koyasu S. Innate lymphoid cells in allergic and nonallergic inflammation. J Allergy Clin Immunol. 2016;138:1253-1264.
AkdiM, Aab A, Altunbulakli C, Azkur K, Costa RA, Crameri R, Duan S, Eiwegger T, Eljaszewicz A, Ferstl R, Frei R, Garbani M, Globinska A, Hess L, Huitema C, Kubo T, Komlosi Z, Konieczna P, Kovacs N, Kucuksezer UC, Meyer N, Morita H, Olzhausen J, O’Mahony L, Pezer M, Prati M, Rebane A, Rhyner C, Rinaldi A, Sokolowska M, Stanic B, Sugita K, Treis A, van de Veen W, Wanke K, Wawrzyniak M, Wawrzyniak P, Wirz OF, Zakzuk JS, Akdis CA. Interleukins (from IL-1 to IL-38), interferons, transforming growth factor 􀀀, and TNF-􀀀: Receptors, functions, and roles in diseases. J Allergy Clin Immunol. 2016;138:984-1010.
Morita H, Saito H, Matsumoto K, Nakae S. Regulatory roles of mast cells in immune responses. Semin Immunopathol. 2016;38:623-9.
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;65:459-465.
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;38:1395-1403.
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;138:200-303.
Ohno M, Fuchimoto Y, Hsu HC, Higuchi M, Komura M, Yamaoka T, Umezawa A, Enosawa S, Kuroda T. Airway reconstruction using decellularized tracheal allografts in a porcine model. Pediatr Surg Int. 2017 doi: 10.1007/s00383-017-4138-8.
Ochiai D, Miyakoshi K, Koinuma G, Matsumoto T, Tanaka M. Prenatal sonographic images of left pulmonary artery sling. Eur J Obstet Gynecol Reprod Biol. 2017;211:217-218.
Kimiya T, Sekiguchi S, Yagihashi T, Arai M, Takahashi H, Takahashi T. A sedation protocol with fasting and shorter sleep leads to MRI success. Pediatrics International. 2017 Jul 21. doi: 10.1111/ped.13371. [Epub ahead of print]