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Genomes and Genes | S FukudaSummaryAffiliation: Gifu University Country: Japan Publications
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Publications
Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humansS Fukuda
Department of Pediatrics, Gifu University School of Medicine, Japan
Am J Hum Genet 59:1210-20. 1996..1. These results confirm that human PAF-2 cDNA restores peroxisome of group C cells and that defects in the PAF-2 produce peroxisome deficiency of group C PBD...
Marinesco-Sjögren syndrome associated with acute myeloblastic leukemiaS Fukuda
Department of Pediatrics, Gifu University, School of Medicine, Tsukasa machi, Japan
Clin Genet 51:278-80. 1997..This is the first report of Marinesco-Sjögren syndrome associated with malignant disorders...
Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio diseaseS Fukuda
Department of Pediatrics, Gifu University School of Medicine, Japan
Hum Mutat 7:123-34. 1996..No family member has evidence of any malignant disease. This study is apparently the first documentation of interstitial deletion of 16q24.3, involving GALNS and APRT genes...
Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase geneT Ogawa
Department of Pediatrics, Gifu University School of Medicine, Japan
Hum Mol Genet 4:341-9. 1995....
Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease)K Isogai
Department of Pediatrics, Gifu University School of Medicine, Japan
J Inherit Metab Dis 21:60-70. 1998....
Mucopolysaccharidosis IV A: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5'-flanking regionY Nakashima
Department of Pediatrics, Gifu University School of Medicine, Japan
Genomics 20:99-104. 1994..The region -98 to -1 upstream of the ATG codon was defined by deletion analysis to be a minimal promoter. One GC box in this region is likely to be a binding site of a regulatory element...
Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase geneS Tomatsu
Department of Pediatrics, Gifu University School of Medicine, Japan
Am J Hum Genet 57:556-63. 1995..In addition to this common mutation, 10 different point mutations and 2 small deletions were detected, suggesting allelic heterogeneity in GALNS gene...
Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disordersZ Zhang
Department of Pediatrics, Gifu University School of Medicine, Japan
Hum Mutat 13:487-96. 1999..This mutation analysis will aid in understanding the functions of the PEX6 protein in peroxisomal biogenesis. Hum Mutat 13:487-496, 1999...
Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotypeN Yamada
Department of Pediatrics, Gifu University School of Medicine, Japan
Hum Mutat 11:202-8. 1998..These data provide further evidence for extensive allelic heterogeneity in MPS IVA in British-Irish patients and provide evidence for their transmission to Australia by British-Irish migrants...
Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patientsS Tomatsu
Department of Pediatrics, Gifu University School of Medicine, Japan
Hum Mol Genet 4:741-3. 1995
Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiencyS Tomatsu
Department of Pediatrics, Gifu University School of Medicine, Gifu, Japan
Am J Hum Genet 58:950-62. 1996..This finding is consistent with a common founder for all individuals with this mutation...
Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populationsA Yamagishi
Department of Pediatrics, Gifu University School of Medicine, Japan
Hum Mutat 7:23-9. 1996..These data continue to document the molecular heterogeneity and racial differences in mutations in MPS-I...
Mucopolysaccharidosis type IVA: common double deletion in the N-acetylgalactosamine-6-sulfatase gene (GALNS)T Hori
Department of Pediatrics, Gifu University School of Medicine, Japan
Genomics 26:535-42. 1995..The same rearrangement has been observed in a heteroallelic state in four unrelated patients. This is the first documentation of a common double deletion a gene that is not a member of a gene cluster...
Polymerase chain reaction detection of two novel human N-acetylgalactosamine-6-sulfate sulfatase gene polymorphisms by single-strand conformation polymorphism analysis or by StyI and StuI cleavagesS Tomatsu
Department of Pediatrics, Gifu University School of Medicine, Japan
Hum Genet 95:243-4. 1995..These polymorphisms were readily detected by single-strand conformation polymorphism (SSCP), using the polymerase chain reaction (PCR)...
Mucopolysaccharidosis IV A: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24M Masuno
Department of Pediatrics, Gifu University School of Medicine, Japan
Genomics 16:777-8. 1993..1.6.4) were utilized in a fluorescence in situ suppression hybridization study to assign the locus to chromosome 16q24. Enzyme assay for GALNS in a patient with del(16)(q22.1) confirmed this finding...
A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVAZ Kato
Department of Pediatrics, Gifu University School of Medicine, Japan
Hum Genet 101:97-101. 1997..Investigation of the genetic background by means of mtDNA lineages indicate that all our patients are probably of native American descent...
Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patientsK Sukegawa
Department of Pediatrics, Gifu University School of Medicine, Japan
Hum Mutat 6:136-43. 1995..Furthermore, expression of the eight mutant cDNAs resulted in severe reductions of iduronate-2-sulfatase enzyme activity in comparison with a normal cDNA...
Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal alleleK Sukegawa
Department of Pediatrics, Gifu University School of Medicine, Japan
Hum Mutat 10:361-7. 1997....
D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorderY Suzuki
Department of Pediatrics, Gifu University School of Medicine, Gifu, Japan
Am J Hum Genet 61:1153-62. 1997..This seems to be the first report of D-bifunctional protein deficiency. Patients previously diagnosed as cases of L-bifunctional protein deficiency probably should be reexamined for a possible d-bifunctional protein deficiency...
Mucopolysaccharidosis IVA: a novel splice acceptor site mutation in intron 4 of the N-acetylgalactosamine-6-sulfate sulfatase gene in an Afghanistan girl with classical Morquio diseaseS Fukuda
Department of Pediatrics, Gifu University, School of Medicine, Japan
Jpn J Hum Genet 42:317-22. 1997..The IVS 4(-1) G-->A has not been seen in other populations and this is the first report of the molecular basis of classical Morquio disease in an Afghanistan patient...
Brother/sister siblings affected with Hunter disease: evidence for skewed X chromosome inactivationK Sukegawa
Department of Pediatrics, Gifu University School of Medicine, Japan
Clin Genet 53:96-101. 1998..These findings indicate that a skewed X chromosome inactivation of the paternal gene and a point mutation in the maternal gene were responsible for the lack of iduronate-2-sulfatase activity in the sister...
The mouse N-acetylgalactosamine-6-sulfate sulfatase (Galns) gene: cDNA isolation, genomic characterization, chromosomal assignment and analysis of the 5'-flanking regionA M Montano
Department of Pediatrics, Gifu University School of Medicine, 40 Tsukasa Machi, Gifu, Japan
Biochim Biophys Acta 1500:323-34. 2000..The 5'-flanking region lacks canonical TATA and CAAT box sequences, but is G+C rich with 10 GC boxes (potential Sp1 binding sites), characteristic of a housekeeping gene promoter...
Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS geneS Tomatsu
Department of Pediatrics, Gifu University School of Medicine, Japan
Hum Mutat 10:368-75. 1997..These findings, coupled with previously reported mutations, bring the total of different mutations to 41 among independent families with MPS IVA, illustrating the extensive allelic heterogeneity among mutations producing MPS IVA...
Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease)S Tomatsu
Department of Pediatrics, Gifu University School of Medicine, Japan
Hum Mutat 6:195-6. 1995
Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfataseS Tomatsu
Department of Pediatrics, Gifu University School of Medicine, Japan
Biochem Biophys Res Commun 181:677-83. 1991....
Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneityS Tomatsu
Department of Pediatrics, Gifu University School of Medicine, Japan
Am J Hum Genet 48:89-96. 1991..Each of these two amino acid changes reduced the beta G1 activity of the corresponding mutant beta G1 expressed following transfection of COS cells with expression vectors harboring the mutated cDNAs...
Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disordersY Suzuki
Department of Pediatrics, Gifu University School of Medicine, Japan
J Inherit Metab Dis 24:151-65. 2001..Investigations using knockout mice are expected to facilitate understanding of migration disorders...
Small-field fractionated radiotherapy with or without stereotactic boost for vestibular schwannomaK Kagei
Department of Radiology, School of Medicine, Hokkaido University, Sapporo, Japan
Radiother Oncol 50:341-7. 1999..To assess the efficacy and toxicity of small-field fractionated radiotherapy with or without stereotactic boost (SB) for vestibular schwannomas...
Purification and partial characterization of alpha-N-acetylglucosaminidase from human liverT Sasaki
Department of Pediatrics, Gifu University School of Medicine
J Biochem 110:842-6. 1991..13-0.20 mM. The purified enzyme was stable at 50 degrees C for 1 h and within the pH range of 6.5-8.5. Anti-serum against the purified enzyme raised in BALB/c mice inhibited the activities of alpha-N-acetylglucosaminidase...
Sex-determining gene(s) on distal 9p: clinical and molecular studies in six casesK Muroya
Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
J Clin Endocrinol Metab 85:3094-100. 2000....
Intermediate form of mucopolysaccharidosis type II (Hunter disease): a C1327 to T substitution in the iduronate sulfatase geneK Sukegawa
Department of Pediatrics, Gifu University School of Medicine, Japan
Biochem Biophys Res Commun 183:809-13. 1992..We posturate that this mutation is probably the cause of the intermediate form of Hunter disease...
Skull-base invasion of nasopharyngeal carcinoma: magnetic resonance imaging findings and therapeutic implicationsT Nishioka
Department of Radiology, School of Medicine, Hokkaido University, Sapporo, Japan
Int J Radiat Oncol Biol Phys 47:395-400. 2000..To evaluate the value of skull-base abnormality on MRI for predicting local recurrence in nasopharyngeal carcinoma...
A newly developed hexamethylmelamine derivative, SAE9 with both antitumor and aromatase-inhibitory activityH Tanino
Department of Surgery, School of Medicine, Keio University, Tokyo, Japan
Anticancer Res 13:623-6. 1993..Since SAE9 has both antitumor and aromatase-inhibitory activity on breast carcinoma cell lines with estrogen dependency, this and similar non-steroidal aromatase inhibitors are thought to be promising for further study...
Cloning of the cDNA for human IFN-gamma-inducing factor, expression in Escherichia coli, and studies on the biologic activities of the proteinS Ushio
Fujisaki Institute, Hayashibara Biochemical Laboratories, Inc, Okayama, Japan
J Immunol 156:4274-9. 1996..Based on these pleiotropic effects of IGIF, we propose that this novel cytokine be designated as IL-18...
Isolation of cDNA encoding a novel human CC chemokine NCC-4/LECK Shoudai
Department of Biochemistry, Kumamoto University Medical School, Kumamoto, Japan
Biochim Biophys Acta 1396:273-7. 1998..The short and long transcripts are expressed highly selectively in the liver at nearly equivalent levels. There seems to be one copy of the gene per haploid genome. We now designate NCC-4 as LEC from liver-expressed chemokine...
Intussusception in neonates: analysis of 14 Japanese patientsI Ueki
Department of Neonatology, St Mary s Hospital, Kurume University School of Medicine, Kurume, Japan
J Paediatr Child Health 40:388-91. 2004..To clarify the clinical features and pathogenesis of intussusception in neonates...
Polymorphisms in ADAM33 are associated with allergic rhinitis due to Japanese cedar pollenL Cheng
Department of Health Promotion and Human Behaviour, Kyoto University Graduate School of Public Health, Kyoto, Japan
Clin Exp Allergy 34:1192-201. 2004..However, there has been no investigation of the genetic role of ADAM33 variants in nasal allergy...
Growth inhibitory effect of Hcc-1/CIP29 is associated with induction of apoptosis, not just with G2/M arrestS Fukuda
Department of Microbiology and Immunology, and the Walther Oncology Center, Indiana University School of Medicine, and the Walther Cancer Institute, Indianapolis, Indiana 46202, USA
Cell Mol Life Sci 62:1526-7. 2005
Unchanged high prevalence of antibodies to hepatitis E virus (HEV) and HEV RNA among blood donors with an elevated alanine aminotransferase level in Japan during 1991-2006S Fukuda
Japanese Red Cross Tochigi Blood Center, Tochigi, Japan
Arch Virol 152:1623-35. 2007..7-22.8% in the ORF2 sequence and segregated into genotype 3 or 4. The occurrence rate of subclinical infection with divergent HEV strains has essentially remained unchanged during 1991-2006 in Japan...
Pattern of dietary fiber intake among the Japanese general populationS Fukuda
First Department of Internal Medicine, Hirosaki University School of Medicine, Aomori, Japan
Eur J Clin Nutr 61:99-103. 2007..To evaluate the dietary fiber (DF) intake pattern among the Japanese general population...
The transcriptional landscape of the mammalian genomeP Carninci
Science 309:1559-63. 2005..The data provide a comprehensive platform for the comparative analysis of mammalian transcriptional regulation in differentiation and development...
Psychological effects of forest environments on healthy adults: Shinrin-yoku (forest-air bathing, walking) as a possible method of stress reductionE Morita
Department of Health Promotion and Human Behaviour, Graduate School of Medicine, Kyoto University, Yoshida Konoe, Sakyo ku, Kyoto 606 8501, Japan
Public Health 121:54-63. 2007..The aims of this study were: (1) to evaluate the psychological effects of shinrin-yoku in a large number of participants; and (2) to identify the factors related to these effects...
Augmentation of vaccenate production and suppression of vaccenate biohydrogenation in cultures of mixed ruminal microbesS Fukuda
Department of Life Science, Meiji University, Kawasaki 214-8571, Japan
J Dairy Sci 89:1043-51. 2006..Thus, introduction of MDT-10 and HF-11 simultaneously to the rumen might increase the amount of t-VA absorbed and might consequently increase the conversion of t-VA to conjugated linoleic acid in tissue...
Molecular epidemiology of subgenus F adenoviruses associated with pediatric gastroenteritis during eight years in Hiroshima Prefecture as a limited areaS Fukuda
Department of Microbiology II, Hiroshima Prefectural Institute of Public Health and Environment, Minami machi, Minami Ku, Hiroshima, Japan
Arch Virol 151:2511-7. 2006..This strain contained a hexon gene belonging to GTC1 and a fiber gene belonging to GTC2 and was considered to be a recombinant between adenoviruses of these types...
High frequency of antibiotic-associated diarrhea due to toxin A-negative, toxin B-positive Clostridium difficile in a hospital in Japan and risk factors for infectionM Komatsu
Division of Clinical Microbiology, Department of Clinical Pathology, Tenri Hospital, 200 Mishima, Tenri, Nara 632 8552, Japan
Eur J Clin Microbiol Infect Dis 22:525-9. 2003..These results indicate that A-/B+ strains of Clostridium difficile can cause intestinal infection in humans and they spread nosocomially in the same manner as A+/B+ strains...
Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAsY Okazaki
1] Laboratory for Genome Exploration Research Group, RIKEN Genomic Sciences Center, RIKEN Yokohama Institute 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama, Kanagawa, 230-0045, Japan
Nature 420:563-73. 2002..The present work, completely supported by physical clones, provides the most comprehensive survey of a mammalian transcriptome so far, and is a valuable resource for functional genomics...
Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA)D E Cole
Department of Clinical Biochemistry, University of Toronto, Ontario, Canada
Am J Med Genet 63:558-65. 1996..Our findings expand the clinical and biochemical phenotype of MPS IVA, but full delineation of the genotype-phenotype relationship requires further study of native and transfected mutant cell lines...
Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild casesS Fukuda
Department of Pediatrics, Gifu University School of Medicine, Japan
J Clin Invest 90:1049-53. 1992....
Organization of the chemokine gene cluster on human chromosome 17q11.2 containing the genes for CC chemokine MPIF-1, HCC-2, HCC-1, LEC, and RANTESH Nomiyama
Department of Biochemistry, Kumamoto University Medical School, Honjo, Japan
J Interferon Cytokine Res 19:227-34. 1999..This indicates that the chemokine cluster sequenced in this study is a gene-rich region in the human genome...
Genomic organization of the genes for human and mouse CC chemokine LECS Fukuda
Department of Biochemistry, Kumamoto University Medical School, Honjo, Japan
DNA Cell Biol 18:275-83. 1999..Southern blot analysis revealed that the sequence isolated from the BAC clone was the only one hybridizing with human LEC cDNA in the mouse genome. Therefore, mice may have only an LEC pseudogene...
Cloning and sequencing of a cluster of genes encoding novel enzymes of trehalose biosynthesis from thermophilic archaebacterium Sulfolobus acidocaldariusK Maruta
Hayashibara Biochemical Laboratories, Inc, Okayama, Japan
Biochim Biophys Acta 1291:177-81. 1996..TreZ and TreY are 33-40% homologous to the corresponding enzymes from Arthrobacter sp. Q36. We have proposed that the biosynthesis of trehalose in Sulfolobus occurs via the actions of the three enzymes encoded by treZXY...
A ribonucleotide reductase gene involved in a p53-dependent cell-cycle checkpoint for DNA damageH Tanaka
Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, The University of Tokyo, Japan
Nature 404:42-9. 2000..The discovery of p53R2 clarifies a relationship between a ribonucleotide reductase activity involved in repair of damaged DNA and tumour suppression by p53...
Murine and human SDF2L1 is an endoplasmic reticulum stress-inducible gene and encodes a new member of the Pmt/rt protein familyS Fukuda
Second Department of Surgery, Department of Urology, Hiroshima University School of Medicine, 1 2 3, Kasumi, Minami Ku, Hiroshima 734 0037, Japan
Biochem Biophys Res Commun 280:407-14. 2001..In conclusion, SDF2L1 protein is a new member of Pmt/rt protein family and Sdf2l1 is a new ER stress-inducible gene...
Cloning and sequencing of trehalose synthase gene from Thermus aquaticus ATCC33923K Tsusaki
Amase Institute, Hayashibara Biochemical Laboratories Inc, Okayama, Japan
Biochim Biophys Acta 1334:28-32. 1997..Sequence analysis revealed a 2892 bp synthase gene and a 963 residue amino-acid sequence. The 547 N-terminal residues were homologous to the full-length synthase from Pimelobacter sp. R48 (53.8% identity)...
[Nasal allergies in Kushiro]D Takagi
Department of Otorhinolaryngology, Hokkaido University School of Medicine, Sapporo
Nippon Jibiinkoka Gakkai Kaiho 104:675-81. 2001..Birch pollen and timothy pollen was dispersed earlier in Kushiro than in Sapporo. Nasal allergies in the Kushiro area appear to be related to local characteristics, such as climate and geographical features...
Purification and gene sequencing of conjugated linoleic acid reductase from a gastrointestinal bacterium, Butyrivibrio fibrisolvensS Fukuda
Department of Life Science, Meiji University, Kawasaki, Japan
J Appl Microbiol 103:365-71. 2007....
