Publications 2008

  • Amano N, Hori N, Ishii T, Narumi S, Hachiya R, Nishimura G, Hasegawa T. Radiological evolution in IMAGe association; a case report. Am J Med Genet 146A: 2130-2133, 2008
  • Anzo M, Cobb LJ, Hwang DL, Mehta H, Said JW, Yakar S, LeRoith D, Cohen P. Targeted deletion of hepatic Igf1 in TRAMP mice leads to dramatic alterations in the circulating insulin-like growth factor axis but does not reduce tumor progression. Cancer Res 68: 3342-3349, 2008
  • Asakura Y, Toyota Y, Muroya K, Kurosawa K, Fujita K, Aida N, Kawame H, Kosaki K, Adachi M.Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome. Journal of Clinical Endocrinology and Metabolism, 2008, 93:920-924
  • da Rocha ST, Edwards CA, Ito M, Ogata T, Ferguson-Smith AC. Genomic imprinting at the mammalian Dlk1-Dio3 domain. Trends Genet 24: 306–16, 2008.
  • Dateki S, Fukami M, Sato N, Muroya K, Adachi M, Ogata T. OTX2 Mutation in a patient with anophthalmia, short stature, and partial GH deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters. J Clin Endocrinol Metab 2008;93: 3697-3702.
  • Depositario-Cabacar DT, Riviello JJ, Takeoka M. Present status of surgical intervention for children with intractable seizures. Curr Neurol Neurosci Rep. 2008;8(2):123-9.
  • Fukami M, Dateki S, Kato F, Hasegawa Y, Mochizuki H, Horikawa R, Ogata T. Identification and characterization of cryptic SHOX intragenic deletions in three patients with Leri-Weill dyschondrosteosis. J Hum Genet 53: 454–459,2008
  • Fukami M, Wada Y, Okada M, Kato F, Katsumata N, Baba T, Morohashi K, Laporte J, Kitagawa M, Ogata T. Mastermind-like domain-containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testosterone production, and contains the SF1 target sequence. J Biol Chem 283: 5525–5532,2008
  • Hayakawa K, Katsumata N, Hirano M, Yoshikawa K, Ogata T, Tanaka T, Nagamine T.　Determination of biotin (vitamin H) by the high-performance affinity chromatography with a trypsin-treated avidin-bound column. J Chromatogr B Anlyt Technol Biomed Life Sci 2008; 869 : 93–100.
  • Hayashi S, Mizuno S, Migita O, Okuyama T, Makita Y, Hata A, Imoto I, Inazawa J. The CASK gene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation. Am J Med Genet A. 2008; 146A: 2145-2151.
  • Higashihara E, Nishiyama T, Horie S, Marumo K, Mitarai T, Koyama T, Matsuyama T, Ito K, Yuno T. Hematuria: Definition and screening test methods.International Journal of Urology, 2008, 15; 281-284
  • Honda M. Peritoneal dialysis prescription suitable for children with anuria. Peritoneal Dialysis, 2008, 28; 153-158
  • Hosoki K, Ogata T, Kagami M, Tanaka T, Saitoh S. Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype. Eur J Hum Genet 16: 1019–1023,2008.
  • Ishikura K, Ikeda M, Hamasaki Y, Hataya H, Nishimura G, Hiramoto R, Honda M. Nephrotic state as a risk factor for developing posterior reversible encephalopathy syndrome in paediatric patients with nephrotic syndrome. Nephrol Dial Transplant, 2008, 23;2531-2536
  • Ishikura K, Ikeda M, Hattori S, Yoshikawa N, Sasaki S, Iijima K, Nakanishi K, Yata N, Honda M. Effective and safe treatment with cyclosporine in nephrotic children: A prospective, randomized multicenter trial. Kidney International, 2008, 73; 1167-1173
  • Iso M, Fukami M, Horikawa R, Azuma N, Kawashiro N, Ogata T. SOX10 Mutation in Waardenburg Syndrome Type II. Am J Med Genet 146A; 2162–2163, 2008.
  • Izawa M, Aso K, Higuchi A, Ariyasu D, Hasegawa Y.  The rabge of 2.2 – 3.3 mg/gCr of pregnanetriol in the first morning urine sample as an index of optimal control in CYP21 deficiency. Clin Pediatr Endocrinol 17: 75-80, 2008
  • Izumi K, Kohta T, Kimura Y, Takahashi T, Ishiko A, Kosaki K. Tietz syndrome: Unique phenotype specific to mutations of MITF nuclear localization signal, Clin Genet, 2008, 74:93-95.
  • Izumi K, Yamashita Y, Aramaki M, Kosaki R, Hosokai N Takahashi T, Kosaki K. Neocentromere marker chromosome of distal 3q mimicking dup(3q) syndrome phenotype, American Journal of Medical Genetics, 2008,146:1967-1971.
  • Kagami M, Sekita Y, Nishimura G, Irie M, Kato F, Okada M, Yamamori S, Kishimoto H, Nakayama M, Tanaka Y, Matsuoka K, Takahashi T, Noguchi M, Tanaka Y, Masumoto K, Utsunomiya T, Kouzan H, Komatsu Y, Ohashi H, Kurosawa K, Kosaki K, Ferguson-Smith AC, Ishino F, Ogata T. Deletions imprinted region: implications for the development of paternal and maternal upd(14)-likeand epimutations affecting the human chromosome 14q32.2 phenotypes. Nat Genet 40: 237-242,2008
  • Kagami M, Yamazawa K, Matsubara K, Matsuo N, Ogata T. Placentomegaly in paternal uniparental disomy for human chromosome 14. Placanta 29: 760-761,2008
  • Kaku U, Kameyama K, Izawa M, Yamada M, Miyamato J, Suzuki T, Sasano H, Hasegawa Y. Ovarian histological findings in an adult patient with the steroidogenic acute regulatory protein (StAR) deficiency reveal the impairment of steroidogenesis by lipoid.　Endocr J 2008; 55: 1043-1049.
  • Kaku Y, Honda M. Standardized peritoneal equilibration test in Japanese children and the influence of long-term peritoneal dialysis. Peritoneal Dialysis, 2008, 28;150-152
  • Kikuchi A, Mori T, Fujimoto J, Kumagai M, Sunami S, Okimoto Y, Tsuchida M. utcome of childhood B-cell non-Hodgkin lymphoma and B-cell acute lymphoblastic leukemia treated with the Tokyo Children's Cancer Study Group NHL B9604 protocol. Leuk Lymphoma. 2008;49:757-62.
  • Kondoh K, Nakata Y, Yamaoka T, Itakura M, Hayashi M, Yamada K, Hata JI, Yamada T. Altered cellular immunity in transgenic mice with T cell-specific expression of human D4-guanine iphosphate-dissociation inhibitor (D4-GDI). Int Immunol. 2008. [Epub ahead of print]
  • Kosaki R, Migita O, Takahashi T, Kosaki K. Two distinctive classic genetic syndromes, 22q11.2 deletion syndrome and Angelman syndrome, occurring within the same family.  Am J Med Genet. 2008; 149A:702-5.
  • Kosaki R, Naito Y, Torii C, Takahashi T, Nakajima T, Kosaki K. Split hand foot malformation with whorl-like pigmentary pattern: Phenotypic expression of somatic mosaicism for the p63 mutation.  Am J Med Genet. 2008;146:2574-2577
  • Kosho T, Sakazume S, Kawame H, Wakui K, Wada T, Okoshi Y, Mikawa M, Hasegawa T, Matsuura N, Niikawa N, Matsumoto N, Fukushima Y. De novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment. Clin Dysmorphol 17: 31-34,2008
  • Kuji N, Yoshii T, Hamatani T, Hanabusa H, Yoshimura Y, Kato S. Buoyant density and sedimentation dynamics of HIV-1 in two density-gradient media for semen processing. Fertil Steril. 2008;90:1983-7.
  • Kuroda T, Morikawa N, Matsuoka K, Fujino A, Honna T, Nakagawa A, Kumagai M, Masaki H, Saeki M. Prognostic significance of circulating tumor cells and bone marrow micrometastasis in advanced neuroblastoma. J Pediatr Surg. 2008;43:2182-5.
  • Matsuzaki Y, Besnard V, Clark JC, Xu Y, Wert SE, Ikegami M, Whitsett JA.STAT3 regulates ABCA3 expression and influences lamellar body formation in alveolar type II cells. Am J Respir Cell Mol Biol. 2008 May;38(5):551-8. Epub 2007 Dec 20.
  • Miura M, Kohno K, Ohki H, Yoshiba S, Sugaya A, Satoh M. Effects of methylprednisolone pulse on cytokine levels in Kawasaki disease patients unresponsive to intravenous immunoglobulin. European Journal of Pediatrics 2008 167:1119-1123
  • Miyagawa Y, Okita H, Nakaijima H, Horiuchi Y, Sato B, Taguchi T, Toyoda M, Katagiri YU, Fujimoto J, Hata J, Umezawa A, Kiyokawa N. Inducible expression of chimeric EWS/ETS proteins confers Ewing's family tumor-like phenotypes to human mesenchymal progenitor cells. Mol Cell Biol. 2008;28:2125-37.
  • Miyairi I, DeVincenzo JP. Human genetic factors and respiratory syncytial virus disease severity. Clin Microbiol Rev. 2008;21:686-703.
  • Miyama S, Goto T, Inoue Y, Yamakawa K. Monozygotic twins with severe myoclonic epilepsy in infancy discordant for clinical features. Pediatr Neurol. 2008;39(2):120-2.
  • Miyashita N, Ouchi K, Kawasaki K, Komura H, Kawai Y, Tsumura N, Bannai H, Iwata S, Oka M. Comparison of serological tests for detection of immunoglobulin M antibodies to Chlamydophila pneumoniae. Respirology. 2008, 13:427-431.
  • Miyashita N, Ouchi K, Kishi F, Tabuchi M, Tsumura N, Bannai H, Iwata S, Tanaka T, Oka M. Rapid and simple diagnosis of Chlamydophila pneumoniae pneumonia by an immunochromatographic test for detection of immunoglobulin M antibodies. Clin Vaccine Immunol. 2008, 15:1128-1131.
  • Morozumi M, Iwata S, Hasegawa K, Chiba N, Takayanagi R, Matsubara K, Nakayama E, Sunakawa K, Ubukata K. (Acute Respiratory Diseases Study Group.) Increased macrolide resistance of Mycoplasma pneumoniae in pediatric patients with community-acquired pneumonia. Antimicrob Agents Chemother. 2008, 52:348-350.
  • Nagasaki K, Narumi S, Asami T, Kikuchi T, Hasegawa T, Uchiyama M. Mutation of a gene for thyroid transcription factor-1 (TTF1) in a patient with clinical features of resistance to thyrotropin. Endocrine J 2008;55: 875-878.
  • Nakata Y, Kondoh K, Fukushima S, Hashiguchi A, Du W, Hayashi M, Fujimoto J, Hata J, Yamada T. Mutated D4-guanine diphosphate-dissociation inhibitor is found in human leukemic cells and promotes leukemic cell invasion. Exp Hematol. 2008;36:37-50/
  • Narumi S, Omori T, Mitamura K, Yamashita Y, Nakao A, Cho H. Correspondence between computed tomography and endoscopy in Menetrier's disease. Pediatr Int 50: 245-247,2008
  • Nishiyama A, Wakasugi N, Kirikae T, Quy T, Ha LD, Ban VV, Long HT, Keicho N, Sasazuki T, Kuratsuji T. Risk factors for SARS infection within hospitals in Hanoi, Vietnam. Jpn J Infect Dis. 2008; 61:388-390.
  • Ogata T, Fukami M, Wada Y. MAMLD1 (CXorf6) is a new gene for hypospadias. Clin Pediatr Endocrinol 2008;17:87-93.
  • Ogata T, Kagami M, Ferguson-Smith AC. Molecular mechanisms regulating phenotypic outcome in paternal and maternal uniparental disomy for chromosome 14. Epigenetics 3 181–187, 2008.
  • Ogata T, Kagami M. Molecular mechanisms leading to the phenotypic development in paternal and maternal uniparental disomy for chromosome 14. Clin Pediatr Endocrinol 2008;17: 103-111.
  • Ogata T, Wada Y, Fukami M. MAMLD1 (CXorf6): a new gene for hypospadias. Sex Dev 2008;2: 244-150
  • Omori S, Kitagawa H, Koike J, Fujita H, Hida M, Pringle KC, Awazu M. Activated ERK correlates with cyst formation and TGF-ß expression in obstructive uropathy in fetal lambs. Kidney Int, 2008; 73:1031-1037.
  • Rotenberg A, Depositario-Cabacar D, Bae EH, Harini C, Pascual-Leone A, Takeoka M. Transient suppression of seizures by repetitive transcranial magnetic stimulation in a case of Rasmussen's encephalitis. Epilepsy Behav. 2008;13(1):260-2.
  • Sasaki G, Ishii T, Jeyasuria P, Jo Y, Bahat A, Orly J, Hasegawa T, Parker KL. Complex role of the mitochondrial targeting signal in the function of steroidogenic acute regulatory protein revealed by bacterial artificial chromosome transgenesis in vivo. Mol Endocrinol 22: 951-964, 2008
  • Sekita Y, Wagatsuma H, Nakamura K, Ono R, Kagami M, Wakisaka N, Hino T, Ogura A, Ogata T, Yokoyama M, Kaneko-Ishino T, Ishino F. Suzuki-Migishima R, Kohda T. Essential role of Rtl1 in the feto-maternal interface of mouse placenta. Nat Genet 40: 243–248,2008.
  • Shiga M, Saito M, Hattori M, Torii C, Kosaki K, Kiyono T, Suda N. Characteristic phenotype of immortalized periodontal cells isolated from a Marfan syndrome type I patient. Cell Tissue Res, 2008; 331:461-472.
  • Shimasaki N, Mori T, Torii C, Sato R, Shimada H, Tanigawara Y, Kosaki K, Takahashi T. Influence of MTHFR and RFC1 polymorphisms on toxicities during maintenance chemotherapy for childhood acute lymphoblastic leukemia or lymphoma. J Pediatr Hematol Oncol. 2008;30:347-52.
  • Shimazaki K, Jirawuthiworavong GV, Nguiyen EV, Awazu M, Levinson RD, Gordon LK. Tubulointerstitial nephritis and uveitis syndrome: a case with an autoimmune reactivity against retinal and renal antigens. Ocul Immunol Inflamm, 2008;16:51-53. 
  • Shinjoh M, Miyairi I, Hoshino K, Takahashi T, Nakayama T. Effective and safe immunizations with live-attenuated vaccines for children after living donor liver transplantation. Vaccine 2008; 26: 6859-6863.
  • Shiozawa Y, Takenouchi H, Taguchi T, Saito M, Katagiri YU, Okita H, Shimizu T, Yamashiro Y, Fujimoto J, Kiyokawa N. Human osteoblasts support hematopoietic cell development in vitro. Acta Haematol. 2008;120:134-45.
  • Sugawara K, Saito S, Ohno K, Okuyama T, Sakuraba H. Structural study on mutant aha-L-iduronidases: insight into mucopolysaccharidosis type I. J Hum Genet. 2008; 53: 467-474.
  • Sugaya N, Tamura D, Yamazaki M, Ichikawa M, Kawakami C, Kawaoka Y,  Mitamura K. Comparison of the clinical effectiveness of oseltamivir and zanamivir against influenza virus infection in children. Clin Infect Dis. 2008; 47(3):339-45.
  • Suzuki K, Haraguchi R, Ogata T, Barbieri O, Alegria O, Vieux-Rochas M, Nakagata N, Ito M, Mills A, Kurita T, Levi G, Yamada G. Abnormal urethra formation as a model for hypospadias of the split-hand-foot malformation (SHFM). Eur J Hum Genet16: 36–44,2008
  • Takahashi T, Fukuyama Y (eds). Biology of Seizure Susceptibility in Developing Brain. Progress in Epileptic Disorders Series, Vol. 6. John Libbey Eurotext, Montrouge (Paris), 2008.
  • Tanaka R, Hanabusa H, Kinai E, Hasegawa N, Negishi M, Kato S.  Intracellular Efavirenz levels in peripheral blood mononuclear cells from HIV-infected individuals.  Antimicrob Agents Chemother. 2008;52: 782-785
  • Tanaka R, Hanabusa H, Kinai E, Hasegawa N, Negishi M, Kato S. Free in PMC Intracellular efavirenz levels in peripheral blood mononuclear cells from human immunodeficiency virus-infected individuals. Antimicrob Agents Chemother. 2008;52:782-5.
  • Tsuji A, Hirasawa K, Arakuma T, Izumi K, Kobori K, Sunohara K, Yoshizawa N, Watanabe H, Izumiya H. A 12-year-old boy with acute gastroenteritis caused by Edwardsiella trada 04:H4. Journal of Infection and Chemotherapy 2008 14: 433-435
  • Vorapong Chaichanamongkol, Ikeda M, Ishikura K , Hamasaki Y, Hataya H, Satoh H, Asanuma H, Shishido S, Honda M. An infantile case of Hinman syndrome with severe acute renal failure. Clinical and Experimental Nephrology, 2008, 12; 309-311
  • Wada Y, Fukami M, Ogata T. MAMLD1: a new gene for hypospadias. J Jap Soc Reproduct Endocrinol 2008;13: 37–42.
  • Yagihashi T, Kato M, Izumi K, Kosaki R, Yago K, Tsubota K, Sato Y, Okubo M, Watanabe G, Takahashi T, Kosaki K. Case report: Adult phenotype of Mulvihill-Smith syndrome.  Am J Med Genet. 2008;149A:496-500.
  • Yamazawa K, Kagami M, Fukami M, Matsubara K, Ogata T. Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR. J Hum Genet 2008;53: 950–955.
  • Yamazawa K, Kagami M, Nagai T, Kondoh T, Onigata K, Maeyama K, Hasegawa T, Hasegawa Y, Yamazaki T, Mizuno S, Miyoshi Y, Miyagawa S, Horikawa R, Matsuoka K, Ogata T. Molecular and clinical findings and their correlations in Silver-Russell syndrome: implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2-H19 domain in bodies and placentas. J Mol Med 2008;86: 1171-1181. 
  • Yamazawa K, Kagami M, Ogawa M, Horikawa R, Ogata T. Placental hypoplasia in maternal uniparental disomy for chromosome. Am J Med Genet A 146: 514-516,2008
  • Yanagi T，Akiyama M, Sakai K, Nagasaki A, Ozawa N, Kosaki R, Sago H, Shimizu H. DNA-based prenatal exclusion of harlequin ichthyosis.J Am Acad Dermatol 58:653-6. 2008
  • Yoshida N, Fujino M, Miyata A, Nagai T, Kamada M, Sakiyama H, Ihara T, Kumagai T, Okafuji T, Okafuji T, Nakayama T.　Mumps virus reinfectionis not a rare event confirmed by reverse transcription loop-mediated isothermal amplification. J Med Virol 2008; 80: 517-523.
  • Yoshida R, Ogata T, Masawa N, Nagai T. Hepatoblastoma in a patient with PTPN11 mutation positive Noonan syndrome. Pediatr Blood Cancer 50; 1274-1276,2008
  • Yoshida R, Ogata T. A novel A461S mutation of PTPN11 in a female with LEOPARD syndrome. Clin Pediatr Endocrinol 2008;17: 121–122.