Publications 2004

• Du W, Hattori Y, Hashiguchi A, Kondoh K, Hozumi N, Ikeda Y, Sakamoto M, Hata J, Yamada T. 2004. Tumor angiogenesis in the bone marrow of multiple myeloma patients and its alteration by thalidomide treatment. Pathol Int 54(5):285-294.
• Ekwa-Ekoba C, Diaz G, Carlson C, Hasegawa T, Lim K-c, Yabu J, Levy B, Schnapp L. 2004. Genomic organization and sequence variation of the human integrin subunit alpha 8 gene. Matrix Biol, 23:487-496.
• Fujimoto Y, Okuyama T, Iijima M, Tanaka T, Horikawa R, Yamada K, Ogata T. 2004. Genitourinary phenotype in XX patients with distal 9p monosomy. Mol Genet Metab 82(2):173-179.
• Fujita H, Omori S, Ishikura K, Hida M, Awazu M. 2004. Role of high glucose-stimulated ERK and p38 in renal tubular cells. Am J Physiol 286:F120-F126.
• Fujita H, Yoshii A, Maeda J, Kosaki K, Shishido S, Nakai H, Awazu M. 2004. Genitourinary anomaly in congenital varicella syndrome: Case report and review of the Literature. Pediatr Nephrol 19:554-557.
• Fukami M, Nishi Y, Hasegawa Y, Miyoshi Y, Okabe T, Haga N, Nagai T, Tanaka T, Ogata T. 2004. Statural growth in 31 Japanese patients with SHOX haploinsufficiency: support for a disadvantageous effect of gonadal estrogens. Endocrine Journal 51(2):197-200.
• Goto T, Mitsuhashi T, Takahashi T. Altered Patterns of Neuron Production in the p27Kip1 Knockout Mouse. Developmental Neuroscience (2004) 26: 208-17.
• Goto T, Aramaki M, Yoshihashi H, Nishimura G, Hasegawa Y, Takahashi T, Ishii T, Fukushima Y, Kosaki K. 2004. Large fontanelles are a shared feature of haploinsufficiency of RUNX2 and its co-activator CBFB. Congenit Anom, 44:225-9.
• Hamajima T, Ohki S, Imamine H, Mizuno H, Homma K, Hasegawa T. 2004. A case of preterm infant with 21-hydroxylase deficiency; the implication of the biochemical diagnosis by urinary pregnanetriolone using GCMS-SIM (gas chromatography mass spectrometry-selected ion monitoring). Clin Pediatr Endocrinol 13:65-70.
• Hanaki H, Kubo R, Nakano R, Kurihara m, Sunakawa K. 2004. Characterization of HMRZ86; novel chemical compound for detecting extended spectrum beta-lactamases. J Antimicrob Chemother 53(5):888-889.
• Hanaki H, Yamaguchi Y, Nomura s, Nagayama A, Sunakawa K. 2004. Rapid detection and differentiation method of VanA, VanB and VanC phenotypes in vancomycin-resistant enterococci. Int J Antimicrob Agents 23(5):502-505.
• Hasegawa K, Chiba N, Kobayashi R, Murayama SY, Iwata S, Sunakawa K, Ubukata K. 2004. Rapidly increasing prevalence of ホイ-lactamase-nonproducing, ampicillin-resistant Haemophilus influenzae type b in patients with meningitis. Antimicrob Agents Chemother 48:1509-1514.
• Hasegawa K, Yamamoto K, Chiba N, Kobayashi R, Nagai K, Jacobs MR, Appelbaum PC, Keisuke S. 2004. Diversity of ampicillin-resistance genes in Haemophilus influenzae in Japan and the United States . Microb Drug Resist 9:39-46.
• Hasegawa T, Fukami M, Sato N, Sasaki G, Fukutani K, Morohashi K, Ogata T. 2004. Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1. J Clin Endocrinol Metab, 89:5930-5935.
• Hokuto I, Ikegami M, Yoshida M, Takeda K, Akira S, Perl AK, Hull WM, Wert SE, Whitsett JA. 2004. Stat-3 is required for pulmonary homeostasis during hyperoxia. J Clin Invest 113(1):28-37.
• Homma K, Hasegawa T, Takeshita E, Watanabe K, Anzo M, Toyoura T, Jinno K, Ohashi T, Hamajima T, Takahashi Y, Takahashi T, Matsuo N. 2004. Elevated urine pregnanetriolone definitively establishes the diagnosis of classical 21-hydroxylase deficiency in term and preterm neonates. J Clin Endocrinol Metab, 89:6087-6091.
• Hu T, Yamagishi H, Maeda J, McAnally J, Yamagishi C, Srivastava D. 2004. Tbx1 regulates fibroblast growth factors in the anterior heart field through a reinforcing autoregulatory loop involving forkhead transcriotion factors. Development, 131:5941-5502.
• Ikeda M, Ito S, Honda M. 2004. Molecular and clinical studies of Dent’s disease in Japan:biochemical examination and renal ultrasonography do not predict carrier state. Pediatr Nephrol 19:485-489.
• Inou Y, Nakayama T, Yoshida N, Uejima H, Yuri K, Kamada M, Kumagai T, Sakiyama H, Miyata A, Ochiai H, Ihara T, Okafuji T, Nagai Tm, Suzuki E, Shimomura K, Ito Y, Miyazaki C. 2004. Molecular epidemiology of mumps virus in Japan and proposal of two new genotypes. J Med Virol 73:97-104.
• Ishii T, Sasaki G, Hasegawa T, Sato S, Matsuo N, Ogata T. 2004. Testosterone enanthate theapy is effective and independent of SRD5A2 and AR gene polymorphisms in 53 Japanese boys with micropenis. Am J Med Genet 172:319-324.
• Ishii T, Sasaki G, Sasaki R, Sato S, Matsuo N, Hasegawa T, Ogata T. 2004. Testosterone enanthate therapy is effective and independent of SRD5A2 and AR gene polymorphisms in 53 Japanese boys with micropenis. J Urol, 172:319-324.
• Kimura T, Sunakawa K, Matsuura N, Kubo H, Shimada S, Yago K. 2004. Population Pharmacokinetics of Arbekacin,Vancomycin and Panipenem in Neonates. Antimicrob Agents Chemother 48(4):1159-1167.
• Kiso M, Mitamura K, Sakai TY, Shiraishi K, Kawakami C, Kimura K, Hayden FG, Sugaya N, Kawaoka Y. 2004. Resistant influenza A viruses in children treated with oseltamivir: descriptive study. Lancet 364(9436):759-765.
• Kiyokawa N, Sekino T, Matsui T, Takenouchi H, Mimori K, Tang WR, Matsui J, Taguchi T, Katagiri YU, Okita H, Matsuo Y, Karasuyama H, Fujimoto J. 2004. Diagnostic importance of CD179a/b as markers of precursor B-cell lymphoblastic lymphoma. Mod Pathol 17(4):423-429.
• Kojima K, Kure S, Kamada F, Hao K, Ichinohe A, Sato K, Aoki Y, Suzuki Y, Kubota M, Horikawa R, Utsumi A, Miura M, Ogawa S, Kanazawa M, Kohno Y, Inokuchi M, Hasegawa T, Narisawa K, Matsubara Y. 2004. Genetic testing of glycogen storage disease type Ib in Japan : mutation spectrum in the G6PT1 gene and a rapid detection method for a prevalent W118R mutation. Mol Genet Metab 81:343-346.
• Komoda F, Sekine T, Inatomi J, Enomoto A, Endou H, Ota T, Matsuyama T, Ogata T, Ikeda M, Awazu M, Muroya K, Kamimaki I, Igarashi T. 2004. The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia. Pediatr Nephrol 19 (7):728-733.
• Kosaki K, Bird LM, Maeda J, Higuchi M, Jones MC, Matsumoto M. 2004. Marfanoid habitus with abnormal situs. Am J Med Genet 127A:310-312.
• Kosaki K, Ikeda K, Miyakoshi K, Ueno M, Kosaki R, Takahashi D, Tanaka M, Torikata C, Yoshimura Y, Takahashi T. 2004. Absent inner dynein arms in a fetus with familial hydrocephalus-situs abnormality. Am J Med Genet 129A(3):308-311.
• Kosaki K, Sato S, Hasegawa T, Matsuo N, Suzuki T, Ogata T. 2004. Premature ovarian failure in a female with proximal symphalangism and NOG mutation. Fertil Steril 81:1137-1139.
• Kosaki K, Tamura K, Sato R, Samejima H, Tanigawara Y, Takahashi T. 2004. A major influence of CYP2C19 genotype on the steady-state concentration of N-desmethylclobazam. Brain Dev, 26:530-4.
• Kouprina N, Pavlicek A, Mochida GH, Solomon G, Gersch W, Yoon YH, Collura R, Ruvolo M, Barrett JC, Woods CG, Walsh CA, Jurka J, Larionov V. 2004. Accelerated Evolution of the ASPM Gene Controlling Brain Size Begins Prior to Human Brain Expansion. PLoS Biol 2(5):E126.
• Kumagai T, Nagai T, Okui T, Tsutsumi H, Nagata N, Yano S, Nakayama T, Okuno Y, Kamiya H. 2004. Poor immune responses to influenza vaccination in infants. Vaccine 22:3404-3410.
• Matsuoka S, Awazu M. 2004. Masked hypertension in pediatric patients. Pediatr Nephrol 19:651-654.
• Matsuyama T, Awazu M, Oikawa T, Inatomi J, Sekine T, Igarashi T. 2004. Molecular and clinical studies of Dent’s disease in Japan :biochemical examination and renal ultrasonography do not predict carrier state. Clin Nephrol 61:231-237.
• Miura M, Katada Y, Ishihara J. 2004. Time interval of measles vaccination in patients with Kawasaki disease treated with additional intravenous immune globulin. Eur J Pediatr 163:25-29.
• Miura M, Mochizuki T, Fukushima H, Ishihara J. 2004. A case of Kawasaki disease accompanied by Henoch-Schonlein purpura. J Clin Exp Rheumatol 22:377-378.
• Miura M, Ohki H, Tsuchihashi T, Yamagishi H, Katada Y, Yamada K, Yamashita Y, Sugaya A, Komiyama O, Shiro H. 2004. Coronary risk factors in Kawasaki disease treated with additional gamma-globulin. Arch Dis Child 89:776-780.
• Miyama S, Goto T. 2004. Leptomeningeal angiomatosis presenting with infantile spasms. Pediatr Neurol, 31:353-356.
• Mizuno H, Ohro Y, Sugiyama Y, Ito T, Hasegawa T, Homma K, Ueshiba H, Makoto O, Togari H. 2004. Transient hyper17-OHPnemia unremated to cross-reactions with residual fetal adrenal cortex products. Hor Res 61:242-245.
• Mochida GH, Rajab A, Eyaid W, Lu A, Al-Nouri D, Kosaki K, Noruzinia M, Sarda P, Ishihara J, Bodell A, Apse K, Walsh CA. 2004. Broader geographical spectrum of Cohen syndrome due to COH1 mutations. J Med Genet 41(6):e87.
• Mochida GH, Walsh CA. 2004. Genetic basis of developmental malformations of the cerebral cortex. Arch Neurol 61(5):637-640.
• Naiki Y, Nanao K, Hasegawa Y. 2004. Adrenocorticotropic hormone and 17-hydroxyprogesterone levels during high-dose glucocorticoid supplement for the management of clitoroplasty of CYP21A2 deficiency. Endocr J 51(3):367-373.
• Nakamura T, Matsui M, Uchida K, Futatsugi A, Kusakawa S, Matsumoto N, Nakamura K, Manabe T, Taketo MM, Mikoshiba K. 2004. M (3) muscarinic acetylcholine receptor plays a critical role in parasympathetic control of salivation in mice. J Physiol 558(Part 2):561-575.
• Nakayama T, Hattori M, Uchida K, Nakamura T, Tateishi Y, Bannai H, Iwai M, Michikawa T, Inoue T, Mikoshiba K. 2004. The regulatory domain of the inositol 1,4,5-trisphosphate receptor is necessary to keep the channel domain closed: possible physiological significance of specific cleavage by caspase 3. Biochem J 377(Part 2):299-307.
• Nakayama T, Kumagai T. 2004. Gelatin allegy. Pediatrics 113:170-171.
• Nishimura G, Hasegawa T, Kinoshita E, Tanaka Y, Kurosawa K, Yoshimoto M. 2004. A newly recognized syndrome of metaphyseal undermodeling, spondylar dysplasia and overgrowth: report of three sporadic patients. Am J Med Genet 128A:204-208.
• Ogata T, Fukami M. 2004. Clinical features in SHOX haploinsufficiency: diagnostic and therapeutic implications. Growth, Genetics and Hormones Journal 20(2):17-23.
• Ohashi Y, Hasegawa Y, Murayama K, Ogawa M, Hasegawa T, Kawai M, Sakata N, Yoshida K, Kamata H, Imai K, Kumagai I, Murakami K, Hasegawa H, Noguchi S, Nonaka I, Yamaguchi S, Nishio I. 2004. A new diagnostic test for very-long-chain acyl-CoA dehydrogenase deficiency using immunohistochemstry. Neurology 62:2209-2213.
• Oishi T, Iwata S, Nonoyama M, Tsuji A, Sunakawa K. 2004. Double-blind comparative study on the care of the neonatal umbilical cord using 80% ethanol with or without chlorhexidine. J Hosp Infect 58:34-37.
• Sasaki G, Ishii T, Sato S, Hoshino K, Morikawa Y, Kodama H, Matsuo N, Takahashi T, Hasegawa T. 2004. Multiple polypoid masses in gastrointestinal tract in patient with Menkes disease on copper-histidine therapy. Eur J Pediatr, 163:745-746.
• Sato N, Katsumata N, Kagami M, Hasegawa T, Hori N, Kawakita S, Minowada S, Shimotsuka A, Shishida Y, Yokozawa M, Yasuda T, Nagasaki K, Hasegawa D, Hasegawa Y, Tachibana K, Naiki Y, Horikawa R, Tanaka T, Ogata T. 2004. Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients. J Clin Endocrinol Metab 89:1079-1088.
• Sato N, Katsumata N, Kagami M, Hasegawa T, Hori N, Kawakita S, Minowada S, Shimotsuka A, Shishida Y, Yokozawa M, Yasuda T, Nagasaki K, Hasegawa D, Hasegawa Y, Tachibana K, Naiki Y, Horikawa R, Tanaka T, Ogata T. 2004. Longitudinal auxological study in female with SHOX haploinsufficiency and normal ovarian function. J Clin Endocrinol Metab 89:1079-1088.
• Sekino T, Kiyokawa N, Taguchi T, Takenouchi H, Matsui J, Tang WR, Suzuki T, Nakajima H, Saito M, Ohmi K, Katagiri YU, Okita H, Nakao H, Takeda T, Fujimoto J. 2004. Characterization of a shiga-toxin 1-resistant stock of vero cells. Microbiol Immunol 48(5):377-387.
• Shiihata T, Kato M, Kimura T, Hayasaka K, Yamamori S, Ogata T. 2004. Craniosynostosis with extra copy of MSX2 in a patient with partial 5q-trisomy. Am J Med Genet 128A(2):214-216.
• Shimada H, Mori T, Shimasaki N, Shimizu K, Takahashi T, Kosaki K. 2004. Somatic PTPN11 mutation with a heterogeneous clonal origin in children with juvenile myelomonocytic leukemia. Leukemia 18(6):1142-1144.
• Shimada H, Shimizu K, Mimaki S, Sakiyama T, Mori T, Shimasaki N, Yokota J, Nakachi K, Ohta T, Ohki M. 2004. First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability. Hum Genet 115(5):372-376.
• Shimasaki N, Mori T, Shimada H, Sugita M, Higuchi M, Mukai M, Morio T, Okamoto S. 2004. Epstein-Barr virus-associated posttransplant lymphoproliferative disorder after a cord blood stem cell transplantation presenting with pulmonary nodules. J Pediatr Hematol Oncol 26(2):124-127.
• Sugita M, Mori T, Shimada H, Shimasaki N, Morikawa Y, Takahashi T. 2004. Colocolic intussusception associated with pneumatosis cystoides intestinalis after cord blood stem cell transplantation. J Pediatr Gastroenterol Nutr 38(5):549-551.
• Taguchi T, Kiyokawa N, Takenouch H, Matsui J, Tang WR, Nakajima H, Suzuki K, Shiozawa Y, Saito M, Katagiri YU, Takahashi T, Karasuyama H, Matsuo Y, Okita H, Fujimoto J. 2004. Deficiency of BLNK hampers PLC-gamma2 phosphorylation and Ca2+ influx induced by the pre-B-cell receptor in human pre-B cells. Immunology 112(4):575-582.
• Takahashi T, Kinsman S, Makris N, Grant E, Haselgrove C, McInerney S, Kennedy DN, Takahashi T, Fredrickson K, Mori S, Caviness VS. 2004. Holoprosencephaly–topologic variations in a Liveborn series: a general model based upon MRI analysis. J Neurocytol 33(1):23-35.
• Takenouchi H, Kiyokawa N, Taguchi T, Matsui J, Katagiri YU, Okita H, Okuda K, Fujimoto J. 2004. Shiga toxin binding to globotriaosyl ceramide induces intracellular signals that mediate cytoskeleton remodeling in human renal carcinoma-derived cells. J Cell Sci 117(Pt 17):3911-3922.
• Tamame T, Hori N, Homma H, Yoshida R, Inokuchi M, Kosaki K, Takahashi T, Hasegawa T. 2004. Hyperinsulinemic hypoglucemia in a newborn infant with trisomy 13. Am J Med Genet 129A:321-322.
• Tanaka Y, Matsuyama T, Ishikura K, Hataya H, Ikeda M, Honda M. 2004. Cholesterol ester transfer protein in children on peritoneal dialysis. Pediatr Nephrol 24:286-288.
• Tang WR, Kiyokawa N, Eguchi T, Matsui J, Takenouchi H, Honma D, Yasue H, Enosawa S, Mimori K, Itagaki M, Taguchi T, Katagiri YU, Okita H, Amemiya H, Fujimoto J. 2004. Development of novel monoclonal antibody 4G8 against swine leukocyte antigen class I alpha chain. Hybrid Hybridomics 23(3):187-191.
• Tanigaki S, Miyakoshi K, Tanaka M, Hattori Y, Matsumoto T, Ueno K, Uehara K, Nishimura O, Minegishi K, Ishimoto H, Shinmoto H, Ikeda K, Yoshimura Y. 2004. Pulmonary hypoplasia: prediction with use of ratio of MR imaging-measured fetal lung volume to US-estimated fetal body weight. Radiology 232(3):767-772.
• Tokumura M, Yoshiba S, Tanaka T, Nanri S, Watanabe H. 2004. Prescribed exercise training improves exercise capacity of convalescent children and adolescents with anorexia nervosa. Eur J Pediatr 162:430-443.
• Tokumura M, Kimura K, Nanri S, Tanaka T, Fujita H. 2004. Height-specific body mass index reference curves for Japanese children and adolescents 5-17 years of age. Pediatr Int, 46:525-530.
• Ubukata K, Chiba N, Hasegawa K, Kobayashi R, Iwata S, Sunakawa K. 2004. Antibiotic susceptibility in relation to penicillin-binding protein genes and serotype distribution of Streptococcus pneumoniae strains responsible for meningitis in Japan, 1999-2002. Antimicrob Agents Chemother 48:1488-1494.
• Yata N, Ikeda M, Ishikura K, Hataya H, Matsuyama T, Banba M, Hasegawa O, Honda M. 2004. Typical MPGN With Few Urinary Abnormalities. Am J Kidney Dis 43:918-922.
• Yahagi N, Kosaki R, Ito T, Mitsuhashi T, Shimada H, Tomita M, Takahashi T, Kosaki K. Position-specific expression of Hox genes along the gastrointestinal tract. Congenital Anomalies (2004) 44:18-26.
• Yorifuji T, Kurokawa K, Mamada M, Imai T, Kawai M, Nishi Y, Shishido S, Hasegawa Y, Nakahata T. 2004. Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys:Phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1b gene due to germline mosaicism. J Clin Endocrinol Metab 89(6):2905-2908.
• Yoshida R, Hasegawa T, Hasegawa Y, Nagai T, Kinoshita E, Tanaka Y, Kanegane H, Ohyama K, Onishi T, Hanew K, Okuyama T, Hoikawa R, Tanaka T, Ogata T. 2004. Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome. J Clin Endocrinol Metab 89:3359-3364.
• Yoshida R, Miyama M, Nagai T, Yamazaki T, Ogata T. 2004. A 3 bp deletion mutation of PTPN11 in an infant with severe Noonan syndrome including hydrops fetalis and juvenile myelomonocytic leukemia. Am J Med Genet 128A(1):63-66.
• Yoshida R, Nagai T, Hasegawa T, Kinoshita E, Tanaka T, Ogata T. 2004. Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome. Am J Med Genet, 130A:432-434.
• Yoshino A, Honda M, Ikeda M, Tsuchida S, Hataya H, Sakazume S, Tanaka Y, Shishido S, Nakai H. 2004. Merit of the cuff-shaving procedure in children with tunnel infection. Pediatr Nephrol, 19:1267-1272.
• Watanabe M, Sueoka K, Sasagawa I, Nakabayashi A, Yoshimura Y, Ogata T. 2004. Association of male infertility with Pro185Ala polymorphism in the aryl hydrocarbon receptor repressor gene: implication for the susceptibility to dioxins. Fertil Steril, 82:1067-1071.