Keiichi Ozono

Summary

Affiliation: Osaka University
Country: Japan

Publications

  1. ncbi request reprint Pediatric aspects of skeletal dysplasia
    Keiichi Ozono
    Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka 565 0871, Japan
    Pediatr Endocrinol Rev 10:35-43. 2012
  2. pmc Intractable itch relieved by 4-phenylbutyrate therapy in patients with progressive familial intrahepatic cholestasis type 1
    Yasuhiro Hasegawa
    Department of Pediatrics, Osaka University Graduate School of Medicine, 2 2 Yamada oka, Suita, Osaka 565 0871, Japan
    Orphanet J Rare Dis 9:89. 2014
  3. pmc An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 gene
    Kohji Miura
    Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan
    PLoS ONE 7:e42180. 2012
  4. ncbi request reprint Early induction of neuronal lipocalin-type prostaglandin D synthase after hypoxic-ischemic injury in developing brains
    Hidetoshi Taniguchi
    Department of Pediatrics, Osaka University Graduate School of Medicine, 2 2 Yamadaoka, Suita Shi, Osaka 565 0871, Japan
    Neurosci Lett 420:39-44. 2007
  5. ncbi request reprint Prostaglandin D2 protects neonatal mouse brain from hypoxic ischemic injury
    Hidetoshi Taniguchi
    Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka 565 0871, Japan
    J Neurosci 27:4303-12. 2007
  6. ncbi request reprint Drastic shift from positive to negative estrogen effect on bone morphogenetic protein signaling in pulmonary arterial endothelial cells under hypoxia
    Hiroaki Ichimori
    Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan
    Circ J 77:2118-26. 2013
  7. ncbi request reprint Lrp6 hypomorphic mutation affects bone mass through bone resorption in mice and impairs interaction with Mesd
    Takuo Kubota
    Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan
    J Bone Miner Res 23:1661-71. 2008
  8. ncbi request reprint Hematopoietic stem cell transplantation with reduced intensity conditioning from a family haploidentical donor in an infant with familial hemophagocytic lymphohistocytosis
    Hideaki Ohta
    Department of Pediatrics, Osaka University Graduate School of Medicine, Yamadaoka 2 2, Suita 565 0871, Japan
    Int J Hematol 94:285-90. 2011
  9. ncbi request reprint WT1 peptide immunotherapy for cancer in children and young adults
    Yoshiko Hashii
    Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan
    Pediatr Blood Cancer 55:352-5. 2010
  10. pmc Lysosomal storage causes cellular dysfunction in mucolipidosis II skin fibroblasts
    Takanobu Otomo
    Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka 565 0871, Japan
    J Biol Chem 286:35283-90. 2011

Detail Information

Publications82

  1. ncbi request reprint Pediatric aspects of skeletal dysplasia
    Keiichi Ozono
    Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka 565 0871, Japan
    Pediatr Endocrinol Rev 10:35-43. 2012
    ..In Japan as well as other countries, pediatrician treat larger numbers of patients with skeletal dysplasia with short stature and fragile bones compared to 20 years ago...
  2. pmc Intractable itch relieved by 4-phenylbutyrate therapy in patients with progressive familial intrahepatic cholestasis type 1
    Yasuhiro Hasegawa
    Department of Pediatrics, Osaka University Graduate School of Medicine, 2 2 Yamada oka, Suita, Osaka 565 0871, Japan
    Orphanet J Rare Dis 9:89. 2014
    ..We found a previously unidentified pharmacological effect of 4-phenylbutyrate (4PB) that increases the expression and function of BSEP. Here, we tested 4PB therapy in three patients with PFIC1...
  3. pmc An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 gene
    Kohji Miura
    Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan
    PLoS ONE 7:e42180. 2012
    ..Our findings reveal a critical role for NPR2 in skeletal growth in both humans and mice, and may provide a potential target for prevention and treatment of diseases caused by impaired production of cGMP...
  4. ncbi request reprint Early induction of neuronal lipocalin-type prostaglandin D synthase after hypoxic-ischemic injury in developing brains
    Hidetoshi Taniguchi
    Department of Pediatrics, Osaka University Graduate School of Medicine, 2 2 Yamadaoka, Suita Shi, Osaka 565 0871, Japan
    Neurosci Lett 420:39-44. 2007
    ..The expression of L-PGDS in degenerating neurons implies that L-PGDS functions as an early stress protein to protect against neuronal death in the HIE brain...
  5. ncbi request reprint Prostaglandin D2 protects neonatal mouse brain from hypoxic ischemic injury
    Hidetoshi Taniguchi
    Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka 565 0871, Japan
    J Neurosci 27:4303-12. 2007
    ..In conclusion, it is probable that PGD2 protected the neonatal brain from hypoxic-ischemic injury mainly via DP1 receptors by preventing endothelial cell degeneration...
  6. ncbi request reprint Drastic shift from positive to negative estrogen effect on bone morphogenetic protein signaling in pulmonary arterial endothelial cells under hypoxia
    Hiroaki Ichimori
    Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan
    Circ J 77:2118-26. 2013
    ....
  7. ncbi request reprint Lrp6 hypomorphic mutation affects bone mass through bone resorption in mice and impairs interaction with Mesd
    Takuo Kubota
    Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan
    J Bone Miner Res 23:1661-71. 2008
    ..These results indicate that Lrp6-mediated signaling controls postnatal bone mass, at least partly through the regulation of bone resorption. It is also suggested that the interaction with Mesd is critical for Lrp6 to function...
  8. ncbi request reprint Hematopoietic stem cell transplantation with reduced intensity conditioning from a family haploidentical donor in an infant with familial hemophagocytic lymphohistocytosis
    Hideaki Ohta
    Department of Pediatrics, Osaka University Graduate School of Medicine, Yamadaoka 2 2, Suita 565 0871, Japan
    Int J Hematol 94:285-90. 2011
    ..These results suggest that BMT with RIC from a family haploidentical donor may sufficiently restore immune regulation in infants, while lessening treatment-related mortality and long-term sequelae...
  9. ncbi request reprint WT1 peptide immunotherapy for cancer in children and young adults
    Yoshiko Hashii
    Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan
    Pediatr Blood Cancer 55:352-5. 2010
    ..These results suggest that WT1 vaccination has therapeutic potential, but any beneficial effect may be insufficient in the presence of gross residual disease...
  10. pmc Lysosomal storage causes cellular dysfunction in mucolipidosis II skin fibroblasts
    Takanobu Otomo
    Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka 565 0871, Japan
    J Biol Chem 286:35283-90. 2011
    ..Our results indicate that various cellular phenotypes in ML-II are caused by the deficiency of many lysosomal enzymes and massive accumulation of undigested substrates...
  11. ncbi request reprint Decrease in serum FGF23 levels after intravenous infusion of pamidronate in patients with osteogenesis imperfecta
    Taichi Kitaoka
    Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan
    J Bone Miner Metab 29:598-605. 2011
    ..This is the first evidence of a rapid fall in FGF23 levels following pamidronate infusion, raising the possibility that inhibition of bone resorption and/or direct effects of pamidronate may suppress secretion of FGF23...
  12. ncbi request reprint Endocrinological analysis of 122 Japanese childhood cancer survivors in a single hospital
    Yoko Miyoshi
    Department of Pediatrics, Osaka University Graduate School of Medicine, Suita City, Osaka, Japan
    Endocr J 55:1055-63. 2008
    ..Endocrinologists should participate in long-term follow-up of these survivors in collaboration with pediatric oncologists...
  13. ncbi request reprint Allogeneic hematopoietic stem cell transplantation against recurrent rhabdomyosarcoma
    Hideaki Ohta
    Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan
    J Pediatr Hematol Oncol 33:e35-8. 2011
    ..A graft-versus-tumor effect through allogeneic immune cells might produce a beneficial effect for high-risk RMS...
  14. ncbi request reprint Circulating levels of soluble alpha-Klotho are markedly elevated in human umbilical cord blood
    Yasuhisa Ohata
    Department of Pediatrics, Osaka University Graduate School of Medicine, Suita 565 0871, Japan
    J Clin Endocrinol Metab 96:E943-7. 2011
    ..Fetal serum levels of calcium and phosphate are higher than those in the maternal levels. Although α-Klotho is known to participate in calcium and phosphate metabolism in adults, its role in the perinatal period remains unknown...
  15. ncbi request reprint Lack of puberty despite elevated estradiol in a 46,XY phenotypic female with Frasier syndrome
    Yoko Miyoshi
    Department of Developmental Medicine, Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan
    Endocr J 53:371-6. 2006
    ..The possibility of this disease should be taken into consideration whenever we encounter a patient with steroid-resistant nephrotic syndrome and delayed puberty...
  16. ncbi request reprint [Cyclophosphamide pulse therapy effective for childhood-onset refractory multiple sclerosis: a case report]
    Tae Ikeda
    Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka
    No To Hattatsu 45:49-52. 2013
    ..Although only a few studies have indicated the efficacy of cyclophosphamide pulse therapy for childhood MS, we consider careful use of cyclophosphamide could be one of the options for refractory childhood MS...
  17. ncbi request reprint Retropharyngeal neuroblastoma in an infant: management without surgery
    Risa Matsumura
    Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan
    J Pediatr Hematol Oncol 32:e160-3. 2010
    ..Thus, it might be better to treat unresectable, localized disease accompanied by life-threatening symptoms with chemotherapy alone...
  18. ncbi request reprint Allogeneic hematopoietic stem cell transplantation with reduced intensity conditioning for a child with recurrent anaplastic large cell lymphoma
    Hideaki Ohta
    Department of Pediatrics, Osaka University Graduate School of Medicine, Yamadaoka 2 2, Suita, Japan
    Int J Hematol 92:190-3. 2010
    ..He is well and free of disease 25 months after HSCT, which implies that reduced intensity conditioning may allow a sufficient graft-versus-lymphoma effect against ALCL while lessening treatment-related toxicities...
  19. ncbi request reprint Pediatric post-transplant diffuse large B cell lymphoma after cardiac transplantation
    Shigenori Kusuki
    Department of Pediatrics, Osaka University Graduate School of Medicine, Yamadaoka 2 2, Suita 565 0871, Japan
    Int J Hematol 89:209-13. 2009
    ..CyA dose was maintained at reduced levels during chemotherapy and later minimized with introduction of everolimus. The child is free of both PTLD and allograft rejection 41 months after the diagnosis of PTLD...
  20. ncbi request reprint Localized donor cells in brain of a Hunter disease patient after cord blood stem cell transplantation
    Ken Araya
    Department of Pediatrics, Osaka University Graduate School of Medicine, 2 2 Yamadaoka, Suita, Osaka 565 0871, Japan
    Mol Genet Metab 98:255-63. 2009
    ..This is the first neuropathological report documenting the distribution of donor-derived cells in the brain after CBSCT into a Hunter disease patient...
  21. ncbi request reprint SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome
    Natsuko Hashimoto
    Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan
    J Hum Genet 56:846-51. 2011
    ..Changes in regulatory sequences in the promoter region or genes other than SLC2A1 might be responsible for onset of Glut1-DS in the other four patients (33%) without SLC2A1 mutation...
  22. ncbi request reprint Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in alpha-dystroglycanopathies
    Mariko Taniguchi
    Division of Clinical Genetics, Department of Medical Genetics, Osaka University Graduate School of Medicine, 2 2 Yamadaoka, Suita, Osaka 565 0871, Japan
    Hum Mol Genet 15:1279-89. 2006
    ..Although severe necrotic degeneration or wasting of skeletal muscle fibers is the main cause of congenital muscular dystrophies, maturational delay of muscle fibers also underlies the etiology of secondary alpha-DGpathies...
  23. ncbi request reprint Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form
    Mohammad Arif Hossain
    Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan
    Gene 534:144-54. 2014
    ....
  24. ncbi request reprint Humoral immunity is involved in the development of pericentral fibrosis after pediatric live donor liver transplantation
    Hiroyuki Yamada
    Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan
    Pediatr Transplant 16:858-65. 2012
    ..These results further imply that suppression of cellular immunity alone is insufficient to prevent PCF. We therefore suggest that suppression of both humoral and cellular immunity in combination would be required for prevention of PCF...
  25. ncbi request reprint Detection and characterization of two novel mutations in the HNF4A gene in maturity-onset diabetes of the young type 1 in two Japanese families
    Makoto Fujiwara
    Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan
    Horm Res Paediatr 79:220-6. 2013
    ..Here we report two novel HNF4A mutations in two Japanese families with MODY1...
  26. ncbi request reprint Low serum concentrations of anti-Müllerian hormone are common in 53 female childhood cancer survivors
    Yoko Miyoshi
    Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan
    Horm Res Paediatr 79:17-21. 2013
    ..We evaluated the effects of cancer treatments on the ovarian function of Japanese female CCSs by measuring serum levels of anti-Müllerian hormone (AMH) and gonadotropin...
  27. ncbi request reprint Intermittent oral trimethoprim/sulfamethoxazole on two non-consecutive days per week is effective as Pneumocystis jiroveci pneumonia prophylaxis in pediatric patients receiving chemotherapy or hematopoietic stem cell transplantation
    Yasuhisa Ohata
    Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan
    Pediatr Blood Cancer 52:142-4. 2009
    ..There were no breakthrough cases of PCP. We therefore conclude our prophylaxis regimen is effective against PCP in immunocompromised children...
  28. ncbi request reprint Clinical aspects and adrenal functions in eleven Japanese children with X-linked adrenoleukodystrophy
    Yoko Miyoshi
    Department of Pediatrics, Osaka University Graduate School of Medicine, 2 2 Yamadaoka, Suita City, Osaka, Japan
    Endocr J 57:965-72. 2010
    ..Addison's form might be overlooked in Japan; therefore, X-ALD should be suspected in patients with adrenocortical insufficiency...
  29. ncbi request reprint LEOPARD-type SHP2 mutant Gln510Glu attenuates cardiomyocyte differentiation and promotes cardiac hypertrophy via dysregulation of Akt/GSK-3β/β-catenin signaling
    Hidekazu Ishida
    Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan
    Am J Physiol Heart Circ Physiol 301:H1531-9. 2011
    ....
  30. ncbi request reprint Serum fibroblast growth factor 23 is a useful marker to distinguish vitamin D-deficient rickets from hypophosphatemic rickets
    Takuo Kubota
    Department of Pediatrics, Graduate School of Medicine, Osaka, Japan
    Horm Res Paediatr 81:251-7. 2014
    ..In the present study we evaluated the utility of serum FGF23 levels in the diagnosis of DR and during its treatment...
  31. ncbi request reprint Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation
    Chengzhe Xu
    Department of Pediatrics, Osaka University Graduate School of Medicine, 2 2 Yamadaoka, Suita, Osaka 565 0871, Japan
    J Hum Genet 51:548-54. 2006
    ..I66M+I289M, G270D, and L618S contributed to a mild phenotype. Screening for these mutations may provide an effective method with which to predict the clinical phenotype...
  32. ncbi request reprint Increased type 3 iodothyronine deiodinase activity in a regrown hepatic hemangioma with consumptive hypothyroidism
    Kazuhiko Bessho
    Department of Pediatrics, Osaka University Graduate School of Medicine, 2 2 Yamadaoka, Suita, Osaka 565 0871, Japan
    Eur J Pediatr 169:215-21. 2010
    ..Infantile hepatic hemangioma with consumptive hypothyroidism is a rare condition...
  33. ncbi request reprint Severe arterial hypertension: a possible complication of McCune-Albright syndrome
    Yasuhisa Ohata
    Department of Pediatrics, Minoh City Hospital, Minoh City, Osaka, Japan
    Eur J Pediatr 168:871-6. 2009
    ..Because of the reported association of GNAS1 gene polymorphism with hypertension, our patient provides further evidence for a role of Gsalpha protein in hypertension...
  34. ncbi request reprint Long-term developmental outcome in patients with West syndrome after epilepsy surgery
    Yoshiko Iwatani
    Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan
    Brain Dev 34:731-8. 2012
    ..While seizure control can be obtained by epilepsy surgery, early intervention for sociopsychological comorbidities may be warranted in children with S-WS...
  35. ncbi request reprint Clinicogenetical features of a Japanese patient with giant axonal neuropathy
    Motohiro Akagi
    Department of Developmental Medicine Pediatrics, Osaka University Graduate School of Medicine, Suita City, Osaka, Japan
    Brain Dev 34:156-62. 2012
    ..In addition, this mutation is novel. We also reviewed previous reports of GAN to see whether there is any genotype-phenotype correlation...
  36. ncbi request reprint Overexpression of endothelin-1 and endothelin receptors in the pulmonary arteries of failed Fontan patients
    Hidekazu Ishida
    Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan
    Int J Cardiol 159:34-9. 2012
    ....
  37. ncbi request reprint Ictal high-frequency oscillations on scalp EEG recordings in symptomatic West syndrome
    Yoshiko Iwatani
    Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan
    Epilepsy Res 102:60-70. 2012
    ..We investigated whether the ictal HFOs on scalp EEG seen during spasms contributed to identification of the epileptogenic zone in symptomatic West syndrome (S-WS)...
  38. ncbi request reprint Clinical phenotype and endocrinological investigations in a patient with a mutation in the MCT8 thyroid hormone transporter
    Noriyuki Namba
    Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan
    Eur J Pediatr 167:785-91. 2008
    ..While LT4 administration suppressed thyrotropin (TSH) secretion, no significant changes in thyroid hormone values or clinical symptoms were observed...
  39. ncbi request reprint Sleep disordered breathing in childhood-onset acid maltase deficiency
    Shin Nabatame
    Department of Developmental Medicine Pediatrics, Osaka University Graduate School of Medicine, 2 2 Yamada oka, Suita, Osaka 565 0871, Japan
    Brain Dev 31:234-9. 2009
    ..To clarify the feature of sleep disordered breathing (SDB) associated with childhood-onset acid maltase deficiency (AMD): the progressive nature of SDB and the stage of AMD...
  40. ncbi request reprint Hemophagocytosis after bone marrow transplantation for JAK3-deficient severe combined immunodeficiency
    Yoshiko Hashii
    Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan
    Pediatr Transplant 14:E105-9. 2010
    ..Thus, host macrophage activation was presumably induced in response to donor lymphocytes through immunoreaction to infections and/or alloantigens. HSCT for SCID necessitates caution with respect to hemophagocytosis...
  41. ncbi request reprint Anthracyclines for acute lymphoblastic leukemia in a child with congenital long QT syndrome
    Sachiko Sasase
    Department of Pediatrics, Osaka University Graduate School of Medicine, 2 2 Yamadaoka, Suita, Osaka 565 0871, Japan
    Int J Hematol 93:802-5. 2011
    ..The administration of anthracyclines caused QT-interval prolongation, but this was uneventful with the concomitant administration of magnesium sulfate...
  42. ncbi request reprint Elevated fibroblast growth factor 23 exerts its effects on placenta and regulates vitamin D metabolism in pregnancy of Hyp mice
    Yasuhisa Ohata
    Department of Bone and Mineral Research, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Japan Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan
    J Bone Miner Res 29:1627-38. 2014
    ..These results suggest that increased levels of circulating FGF23 in pathological conditions such as Hyp mice exerts direct effects on the placenta and affects fetal vitamin D metabolism via the regulation of Cyp24a1 expression...
  43. ncbi request reprint Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature
    Taichi Kitaoka
    Department of Pediatrics, Osaka University Graduate School of Medicine, 2 2 Yamada oka, Suita, Osaka, 565 0871, Japan
    Eur J Pediatr 173:799-804. 2014
    ..In addition, we found normal bone mineral density in adult patients of both families who have had an episode of cortical hyperostosis regardless of the presence or absence of the common p.Arg1014Cys mutation...
  44. ncbi request reprint Evaluation of oral iron treatment in pediatric restless legs syndrome (RLS)
    Ikuko Mohri
    Department of Child Development, United Graduate School of Child Development, Osaka University, Osaka, Japan
    Sleep Med 13:429-32. 2012
    ..In addition, we provided detailed clinical information about RLS in this pediatric cohort...
  45. ncbi request reprint [Genetic basis for skeletal disease. Clinical characteristics of hypophosphatasia and its treatment]
    Keiichi Ozono
    Department of Pediatrics, Osaka University Graduate School of Medicine
    Clin Calcium 20:1220-7. 2010
    ..However, the method must be developed which improves the survival of donor mesenchymal cells in patients. Recombinant bone-targeted ALP therapy is now on clinical trial in Canada and U.S.A and expected to be available in near future...
  46. ncbi request reprint Novel mutation of gene coding for glial fibrillary acidic protein in a Japanese patient with Alexander disease
    Masanobu Kawai
    Department of Developmental Medicine, Pediatrics, D 5 Osaka University Graduate School of Medicine, 2 2 Yamadaoka Suita, Osaka, Japan
    Brain Dev 28:60-2. 2006
    ..This mutation was not detected in 50 Japanese controls using denaturing high-performance liquid chromatography...
  47. ncbi request reprint Wnt/Lrp/beta-catenin signaling suppresses adipogenesis by inhibiting mutual activation of PPARgamma and C/EBPalpha
    Masanobu Kawai
    Department of Pediatrics, Osaka University Graduate School of Medicine, 2 2 Yamadaoka, Suita, Osaka 565 0871, Japan
    Biochem Biophys Res Commun 363:276-82. 2007
    ..These findings suggest a critical role of Wnt/Lrp6/beta-catenin signaling in adipogenesis and cell fate decision of mesenchymal stem cells...
  48. ncbi request reprint Linear nevus sebaceous syndrome with hypophosphatemic rickets with elevated FGF-23
    Ryo Narazaki
    Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3 1 1 Maidashi, Higashi ku, Fukuoka 812 8582, Japan
    Pediatr Nephrol 27:861-3. 2012
    ..Linear nevus sebaceous syndrome (LNSS) is a rare congenital neuroectodermal disorder characterized by involvement of the skeleton and central nervous system...
  49. ncbi request reprint Genistein reduces heparan sulfate accumulation in human mucolipidosis II skin fibroblasts
    Takanobu Otomo
    Department of Pediatrics, Osaka University Graduate School of Medicine, 2 2 Yamada oka, Suita, Osaka 565 0871, Japan
    Mol Genet Metab 105:266-9. 2012
    ..Heparan sulfate was accumulated within both cells and in extracellular spaces in mucolipidosis II. Genistein reduced the amount of heparan sulfate in cultured cells dose dependently and also inhibited cell growth dose dependently...
  50. ncbi request reprint Application of signal-averaged electrocardiogram to myocardial damage in the late stage of Kawasaki disease
    Makoto Takeuchi
    Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan
    Circ J 70:1443-5. 2006
    ..Myocardial damage occurs in the late stage of Kawasaki disease (KD) regardless of whether coronary artery lesions (CALs) are present...
  51. ncbi request reprint Monocarboxylate transporter 10 functions as a thyroid hormone transporter in chondrocytes
    Sanae Abe
    Department of Pediatrics, Osaka University Graduate School of Medicine, 2 2 Yamada oka, Suita, Osaka 565 0871, Japan
    Endocrinology 153:4049-58. 2012
    ..These results suggest that Mct10 functions as a thyroid hormone transporter in chondrocytes and can explain at least in part why Allan-Herndon-Dudley syndrome patients do not exhibit significant growth impairment...
  52. ncbi request reprint Hereditary hypophosphatemic rickets with hypercalciuria: a study for the phosphate transporter gene type IIc and osteoblastic function
    Takehisa Yamamoto
    Department of Pediatrics, Minoh City Hospital, 5 7 1 Kayano, Minoh, Osaka 562 8562, Japan
    J Bone Miner Metab 25:407-13. 2007
    ..These abnormalities were speculated to be associated with the abnormal functions of phosphate transporter gene type IIc, although the exact roles of this phosphate transporter in the human osteoblast are still unknown...
  53. ncbi request reprint Antifungal prophylaxis with micafungin in patients treated for childhood cancer
    Shigenori Kusuki
    Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan
    Pediatr Blood Cancer 53:605-9. 2009
    ..We performed a retrospective study to determine the efficacy and safety of prophylactic micafungin against IFI in pediatric neutropenic patients during chemotherapy or HSCT...
  54. doi request reprint Major role of apolipoprotein B in cycloheximide-induced acute hepatic steatosis in mice
    Mari Murakami
    Department of Pediatrics, Osaka University Graduate School of Medicine, Suita Department of Pediatrics, Setsunan General Hospital, Kadoma, Osaka, Japan Division of Gastroenterology, Hepatology and Nutrition, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio, USA
    Hepatol Res 41:446-54. 2011
    ..Conclusion:  We demonstrated that decreased hepatic lipid secretion due to acute apoB reduction is involved in the pathogenesis of CHX-induced liver steatosis...
  55. ncbi request reprint WT1 (Wilms tumor 1) peptide immunotherapy for childhood rhabdomyosarcoma: a case report
    Hideaki Ohta
    Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan
    Pediatr Hematol Oncol 26:74-83. 2009
    ..She is currently still on continued WT1 peptide immunotherapy in a disease-free condition for 22 months. WT1 peptide-based immunotherapy should be a promising option for high-risk rhabdomyosarcoma in childhood...
  56. ncbi request reprint Ex vivo-expanded donor CD4(+) lymphocyte infusion against relapsing neuroblastoma: A transient graft-versus-tumor effect
    Hisao Yoshida
    Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan
    Pediatr Blood Cancer 52:895-7. 2009
    ..The response was associated with development of continued high fever and an increase of cytotoxic T lymphocytes in peripheral blood. This case suggests a possibility of a graft-versus-tumor effect against neuroblastoma...
  57. ncbi request reprint Successful stenting for renal artery stenosis in a patient with Alagille syndrome
    Haruhiko Hirai
    Department of Pediatrics, Developmental Medicine, Osaka University Graduate School of Medicine, Japan
    Pediatr Nephrol 20:831-3. 2005
    ..Thus, a second stent was placed with success. Since then, the hypertension has been controlled with anti-hypertensive medication, and the renal function has recovered to normal range...
  58. ncbi request reprint Hypoxia induces alteration of bone morphogenetic protein receptor signaling in pulmonary artery endothelial cell
    Kunihiko Takahashi
    Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan
    Pediatr Res 61:392-7. 2007
    ..Our results suggest that hypoxia induces alteration of intracellular BMPR signaling in the EC of resistance pulmonary artery, which is involved in the pathogenesis of PH...
  59. pmc Dysregulated gene expression in the primary osteoblasts and osteocytes isolated from hypophosphatemic Hyp mice
    Kazuaki Miyagawa
    Department of Bone and Mineral Research, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka, Japan The First Department of Oral and Maxillofacial Surgery, Osaka University Graduate School of Dentistry, Suita, Osaka, Japan
    PLoS ONE 9:e93840. 2014
    ..These results implicate the complex gene dysregulation in osteoblasts and osteocytes of Hyp mice, which might contribute to the pathogenesis. ..
  60. ncbi request reprint Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation
    Takanobu Otomo
    Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan
    J Hum Genet 54:145-51. 2009
    ..These results show the effective molecular diagnosis of ML II and III and also provide phenotypic prediction. This is the first and comprehensive report of molecular analysis for ML patients of Japanese origin...
  61. ncbi request reprint Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement
    Kaoru Eto
    Department of Pediatrics, Tokyo Women s Medical University, Tokyo, Japan
    Am J Med Genet A 161:3049-56. 2013
    ..Because the constellation of such characteristic features is quite unique, clinical manifestations of the patients with microdeletions of 3p21.31 would be clinically recognizable as a contiguous gene deletion syndrome...
  62. ncbi request reprint [Updates on rickets and osteomalacia: guidelines for diagnosis of rickets and osteomalacia]
    Yasuhisa Ohata
    Department of Pediatrics, Osaka University Graduate School of Medicine, Japan
    Clin Calcium 23:1421-8. 2013
    ..It is very useful for the differential diagnosis to measure the serum levels of 25-hydroxy vitamin D and fibroblast growth factor 23. ..
  63. pmc Lipocalin-type prostaglandin D synthase/beta-trace is a major amyloid beta-chaperone in human cerebrospinal fluid
    Takahisa Kanekiyo
    Department of Molecular Behavioral Biology, Osaka Bioscience Institute, Suita, Osaka 565 0874, Japan
    Proc Natl Acad Sci U S A 104:6412-7. 2007
    ..Our findings may provide a diagnostic and therapeutic approach for AD...
  64. ncbi request reprint [Wnt signaling molecules related to osteoporosis]
    Takuo Kubota
    Department of Pediatrics, Osaka University Graduate School of Dentistry, Japan
    Clin Calcium 23:855-60. 2013
    ..Here we review several components in Wnt signaling pathways with their association with bone mineral density in humans...
  65. ncbi request reprint Long-term administration of intranasal oxytocin is a safe and promising therapy for early adolescent boys with autism spectrum disorders
    Masaya Tachibana
    Molecular Research Center for Children s Mental Development, Osaka University, Suita, Japan
    J Child Adolesc Psychopharmacol 23:123-7. 2013
    ..However, most previous studies were conducted by single-dose administration to adults; and, therefore, the long-term effect of nasal OT on ASD patients and its effect on children remain to be clarified...
  66. pmc Anti-inflammatory therapy by ibudilast, a phosphodiesterase inhibitor, in demyelination of twitcher, a genetic demyelination model
    Kuriko Kagitani-Shimono
    Department of Developmental Medicine Pediatrics, Osaka University Graduate School of Medicine, 2 2 Yamadaoka, Suita, Osaka 565 0871, Japan
    J Neuroinflammation 2:10. 2005
    ..CONCLUSION: We conclude that anti-inflammatory therapy by a phosphodiesterase inhibitor can be considered as a novel alternative therapy for Krabbe's disease...
  67. ncbi request reprint Pediatric myeloid/NK cell precursor lymphoma/leukemia expressing T/NK immunophenotype markers
    Yoshiko Hashii
    Department of Developmental Medicine Pediatrics, Osaka University Graduate School of Medicine, 2 2 Yamadaoka, Suita, Osaka 565 0871, Japan
    Int J Hematol 91:525-9. 2010
    ..The blast cells possessed features overlapping both myeloid/NK precursor acute leukemia and blastic NK/precursor acute lymphoma/leukemia. These observations suggest that two subclones originated from common precursors...
  68. ncbi request reprint Acute exacerbation of hepatitis in a boy with chronic HCV genotype-2 infection after a 9-year period of normal transaminases levels
    Hitoshi Tajiri
    Department of Pediatrics, Osaka General Medical Center, 3 1 56 Bandaihigashi, Sumiyoshi ku, Osaka, 558 8558, Japan
    Eur J Pediatr 166:501-2. 2007
    ..We suggest that children with HCV genotype-2 infection who show a significant ALT flare should be treated with anti-viral therapies in order to avoid progression of hepatic fibrosis...
  69. ncbi request reprint Growth hormone stimulates adipogenesis of 3T3-L1 cells through activation of the Stat5A/5B-PPARgamma pathway
    Masanobu Kawai
    Department of Pediatrics, Osaka University Graduate School of Medicine, 2 2 Yamadaoka, Suita, Osaka 565 0871, Japan
    J Mol Endocrinol 38:19-34. 2007
    ..Thus, the GH-Stat5A/B signaling pathway stimulates adipogenesis through two distinct steps. In addition, cDNA microarray data provide us the further insights underlying the adipogenic effect of GH...
  70. ncbi request reprint A case of cerebral hypomyelination with spondylo-epi-metaphyseal dysplasia
    Shihoko Kimura-Ohba
    Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan
    Am J Med Genet A 161:203-7. 2013
    ..Alternatively, this condition may have been caused by a mutation of the gene encoding a molecule that functions in both cerebral myelination and skeletal development...
  71. pmc Involvement of the lysophosphatidic acid-generating enzyme autotaxin in lymphocyte-endothelial cell interactions
    Tae Nakasaki
    Department of Microbiology and Immunology, Osaka University Graduate School of Medicine, Suita, Osaka, 565 0871, Japan
    Am J Pathol 173:1566-76. 2008
    ..Tissue-specific inactivation of ATX will verify this hypothesis in future studies of its mechanism of action...
  72. ncbi request reprint [Deficiency of REM sleep in a patient with pontine cavernous hemangioma]
    Kuriko Kagitani-Shimono
    Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka
    No To Hattatsu 41:349-52. 2009
    ..This is the first report of an individual with long-term loss of REM sleep and a valuable case for the understanding of anatomical structures of the REM-on system and the role of REM in memory consolidation...
  73. ncbi request reprint Inhibition of autophagosome formation restores mitochondrial function in mucolipidosis II and III skin fibroblasts
    Takanobu Otomo
    Department of Pediatrics D 5, Osaka University Graduate School of Medicine, 2 2 Yamadaoka, Suita, Osaka 565 0871, Japan
    Mol Genet Metab 98:393-9. 2009
    ..These results show for the first time autophagic and mitochondrial dysfunctions in this disorder...
  74. ncbi request reprint [GNAS1 gene abnormality in pseudohypoparathyroidism I a]
    Keiichi Ozono
    Osaka University Graduate School of Medicine, Department of Pediatrics, Japan
    Clin Calcium 17:1214-9. 2007
    ..PHP type I a is associated with Albright's osteodystrophy (AHO). Those patients who have AHO phenotype without hormone resistance are affected by pseudopseudohypoparathyroidism...
  75. ncbi request reprint [Perimenarchial growth spurt of the bone]
    Noriyuki Namba
    Department of Pediatrics, Osaka University Graduate School of Medicine, Japan
    Clin Calcium 21:1315-21. 2011
    ..In this review, we focus on the hormonal effects of puberty on bone growth and the importance of appropriate exercise and nutrition to optimize bone accrual...
  76. ncbi request reprint Wnt signaling in bone metabolism
    Takuo Kubota
    Department of Pediatrics, Osaka University Graduate School of Medicine, 2 2 Yamada oka, Suita, Osaka 565 0871, Japan
    J Bone Miner Metab 27:265-71. 2009
    ..Mesd might be one of target molecules to increase the quantity of LRP5/6 in the plasma membrane. Since sclerostin is almost exclusively expressed in osteocytes, abrogating sclerostin is the most promising design...
  77. ncbi request reprint Hepatitis C virus infection and interferon therapy in patients with Down syndrome
    Yoko Miyoshi
    Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan
    Pediatr Int 50:7-11. 2008
    ..The purpose of the present paper was to survey the features of liver diseases in this subset of children and evaluate the efficacy of IFN treatment in those patients...
  78. ncbi request reprint A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy
    Kunihiko Takahashi
    Department of Developmental Medicine Paediatrics, Osaka University Graduate School of Medicine, 2 2 Yamada oka, 565 0871 Suita, Osaka, Japan
    Eur J Pediatr 164:497-500. 2005
    ..Administration of propranolol and cibenzoline improved ventricular outflow tract obstruction, leading to catch-up growth. Genetic analysis of the patient revealed a novel missense mutation in the PTPN11 gene...
  79. ncbi request reprint Umbilical cord-blood transplantations from unrelated donors in patients with inherited metabolic diseases: Single-institute experience
    Sadao Tokimasa
    Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan
    Pediatr Transplant 12:672-6. 2008
    ..These results suggest the feasibility of the UCBT with Bu, fludarabine, and CY-preparative regimen for patients with inherited metabolic diseases...