Research Topics
Genomes and Genes | Y SuzukiSummaryAffiliation: Osaka Medical Center for Cancer and Cardiovascular Diseases Country: Japan Publications
| Collaborators
|
Detail Information
Publications
Detection of kanamycin-resistant Mycobacterium tuberculosis by identifying mutations in the 16S rRNA geneY Suzuki
Department of Pathology, Osaka Prefectural Institute of Public Health, Japan
J Clin Microbiol 36:1220-5. 1998..Furthermore, we found that the genotypes of kanamycin-resistant strains can be discriminated from each other by digestion with a restriction endonuclease, BstUI or DdeI...
Rapid detection of pyrazinamide-resistant Mycobacterium tuberculosis by a PCR-based in vitro systemYasuhiko Suzuki
Department of Pathology, Osaka Prefectural Institute of Public Health, Higashinari ku, Osaka 537 0025, Japan
J Clin Microbiol 40:501-7. 2002..This fact suggested the possibility of the usefulness of this system for the rapid detection of PZA-resistant M. tuberculosis...
Expression of recombinant Norwalk-like virus capsid proteins using a bacterial system and the development of its immunologic detectionT Yoda
Division of Food Microbiology, Osaka Prefectural Institute of Public Health, Osaka, Japan
J Med Virol 60:475-81. 2000..Our results strongly suggest that the immunologic detection of NLV antigens using anti-rV R-IgG is possible and seems a significant step toward simplification of an NLV detection test...
Escherichia coli heat-labile enterotoxin B subunits supplemented with a trace amount of the holotoxin as an adjuvant for nasal influenza vaccineS Tamura
Department of Pathology, National Institute of Health, Tokyo, Japan
Vaccine 12:1083-9. 1994..These results suggest that LTB containing a trace amount of LT can be used as a potent adjuvant for nasal vaccination of humans against influenza...
Characterization of monoclonal antibodies generated against Norwalk virus GII capsid protein expressed in Escherichia coliT Yoda
Division of Food Microbiology, Osaka Prefectural Institute of Public Health, Japan
Microbiol Immunol 44:905-14. 2000..It was also found that genogroup I recombinant NV96-908 (genogroup I, KY89 type) could be detected as sensitively as recombinant NV36 (genogroup II) by ELISA with a set of the MAbs produced here...
Molecular cloning of a novel human collectin from liver (CL-L1)K Ohtani
Department of Pathology, Research Institute for Microbial Diseases, Osaka University, Suita, Osaka 565, Japan
J Biol Chem 274:13681-9. 1999..These findings indicate that CL-L1 may be involved in different biological functions...
Characterization of the rpsL and rrs genes of streptomycin-resistant clinical isolates of Mycobacterium tuberculosis in JapanC Katsukawa
Laboratory of Microbiology, Osaka Prefectural Institute of Public Health, Japan
J Appl Microbiol 83:634-40. 1997..8%, whereas none of the streptomycin-sensitive isolates had mutations in either the rpsL or rrs gene...
Antibody-forming cells in the nasal-associated lymphoid tissue during primary influenza virus infectionS Tamura
Department of Pathology, National Institute of Infectious Diseases, Tokyo, Japan
J Gen Virol 79:291-9. 1998..These results suggest that virus-specific IgA antibodies, produced by IgA AFCs in NALT, play an important role in recovery from infection...
Antibody-independent classical complement pathway activation and homologous C3 deposition in xeroderma pigmentosum cell linesM Kurita
Department of Immunology, Osaka Medical Centre for Cancer and Cardiovascular Diseases, Higashinari ku, Osaka 537, Japan
Clin Exp Immunol 116:547-53. 1999..The possible relationship between the pathogenesis of XP and our findings is discussed...
Cloning and characterization of a cDNA encoding bovine mannan-binding proteinT Kawai
Department of Food Microbiology, Osaka Prefectural Institute of Public Health, Japan
Gene 186:161-5. 1997..Finally, these genomic and biological analyses indicate that the cDNA obtained here encoded a bovine serum MBP...
Molecular cloning and characterization of the gene coding for azoreductase from Bacillus sp. OY1-2 isolated from soilY Suzuki
Departments of Pathology, Food Microbiology, and Environmental Sanitation, Osaka Prefectural Institute of Public Health, 1 3 69, Nakamichi, Higashinari ku, Osaka 537 0025, Japan
J Biol Chem 276:9059-65. 2001..This is the first report describing the sequencing and characterization of a gene encoding the azo dye-reducing enzyme, azoreductase, from aerobic bacteria and its expression in E. coli...
Human intelectin is a novel soluble lectin that recognizes galactofuranose in carbohydrate chains of bacterial cell wallS Tsuji
Department of Immunology, Osaka Medical Center for Cancer and Cardiovascular Diseases, Higashinari ku, Osaka 537 8511, Japan
J Biol Chem 276:23456-63. 2001..These results suggested that hIntL is a new type lectin recognizing galactofuranose, and that hIntL plays a role in the recognition of bacteria-specific components in the host...
Characterization of Norwalk virus GI specific monoclonal antibodies generated against Escherichia coli expressed capsid protein and the reactivity of two broadly reactive monoclonal antibodies generated against GII capsid towards GI recombinant fragmentsT Yoda
Division of Food Microbiology, Osaka Prefectural Institute of Public Health, Nakamichi 1 3 69, Higashinari ku, Osaka 537 0025, Japan
BMC Microbiol 1:24. 2001..In the same study, two broadly reactive monoclonal antibodies were observed to react with genogroup I recombinant protein...
Mutations in rpoB gene of rifampicin resistant clinical isolates of Mycobacterium tuberculosis in JapanY Suzuki
Department of Pathology, Osaka Prefectural Institute of Public Health, Japan
Kansenshogaku Zasshi 69:413-9. 1995..tuberculosis. Our results suggest that direct DNA sequencing of the rpoB gene may be a reliable method for identifying rifampicin-resistant M. tuberculosis strains among Japanese clinical isolates...
Zonisamide in West syndromeY Suzuki
Collaborate Clinical Research Group for Pediatric Neurology, Osaka University Medical School, Osaka, Japan
Brain Dev 23:658-61. 2001..No serious side effects have been reported so far. ZNS may be both effective and well tolerated for the initial treatment of selected patients with West syndrome...
Bisphenol A in ambient air particulates responsible for the proliferation of MCF-7 human breast cancer cells and Its concentration changes over 6 monthsH Matsumoto
Division of Food Chemistry, Department of Food and Drugs, Osaka Prefectural Institute of Public Health, Japan
Arch Environ Contam Toxicol 48:459-66. 2005..In spite of this decline, the possibility remains that the estrogenic activity mainly originated from BPA...
Long-term response to zonisamide in patients with West syndromeY Suzuki
Division of Pediatric Neurology, Osaka Medical Center and Research Institute for Maternal and Child Health, Murodo cho, Izumi, Japan
Neurology 58:1556-9. 2002..No serious adverse reactions were noted. ZNS may be both effective and well tolerated for the treatment of West syndrome...
Mutations in mitochondrial control region DNA in gastric tumours of Japanese patientsG Tamura
Department of Pathology, Yamagata University School of Medicine, Japan
Eur J Cancer 35:316-9. 1999..In summary, mtDNA is mutated in a subset of benign and malignant gastric tumours, but, disruption of the mtDNA repair system appears not to be significantly involved in gastric tumours of Japanese patients...
Analysis of genetic alterations in renal cell carcinoma using the polymerase chain reactionY Suzuki
Department of Pathology, Iwate Medical University School of Medicine, Morioka, Japan
Virchows Arch 424:453-7. 1994..The results suggest that the genetic pathway in the genesis of RCC differs considerably from that of other common human carcinomas...
Synthesis of basement membrane by gastrointestinal cancer cell linesT Akashi
Department of Pathology, Tokyo Medical and Dental University, Japan
J Pathol 187:223-8. 1999..This abnormality might play some role in stromal invasion by tumour cells in gastrointestinal cancer...
Detection of culturable and nonculturable Legionella species from hot water systems of public buildings in JapanA Edagawa
Department of Environment and Water, Osaka Prefectural Institute of Public Health, Higashinari ku, Osaka, Japan
J Appl Microbiol 105:2104-14. 2008..To investigate the prevalence of culturable and nonculturable Legionella species in hot water systems of public buildings in Japan and assess the risk factors associated with Legionella contamination in hot water systems...
Effectiveness and safety of mutant Escherichia coli heat-labile enterotoxin (LT H44A) as an adjuvant for nasal influenza vaccineY Hagiwar
Department of Pathology, National Institute of Infectious Diseases, Toyama 1-23-1, Shinjuku-ku, 162-8640, Tokyo, Japan
Vaccine 19:2071-9. 2001..These results suggest that LT H44A, which can be produced in high yields in an E. coli culture (about 5 mg/l), could be used as one of the effective and safe adjuvants for nasal influenza vaccine in humans...
Immune responses and protection in different strains of aged mice immunized intranasally with an adjuvant-combined influenza vaccineH Asanuma
Department of Pathology, National Institute of Infectious Diseases, Toyama 1-23-1, Shinjuku-ku, Tokyo 162-8640, Japan
Vaccine 19:3981-9. 2001..These results suggest that local Ab responses, as well as systemic Ab responses, are downregulated in aged mice, although the degree of the downregulation of immune responses differs from strain to strain...
Immunohistochemical localization of heparan sulfate proteoglycan in human gastrointestinal tractM Oshiro
Department of Pathology, Tosei General Hospital, 160 Nishi-Oiwake-Cho, Seto 489-8642, Japan
Histochem Cell Biol 115:373-80. 2001..These characteristic localizations of HS-PG in intestines and stomachs suggest that this kind of HS-PG staining could be a hallmark characteristic of the intestine...
Cloning and sequencing of a cDNA coding for bovine conglutininY Suzuki
Department of Pathology, Osaka Prefectural Institute of Public Health, Japan
Biochem Biophys Res Commun 191:335-42. 1993..Northern blot analysis of bovine tissues showed that conglutinin mRNA of about 1.5 kb is expressed in the liver and also slightly in the lung...
Resistance to acidic and alkaline environments in the endodontic pathogen Enterococcus faecalisK Nakajo
Division of Oral Ecology and Biochemistry, Department of Oral Biology, Tohoku University Graduate School of Dentistry, Sendai, Japan
Oral Microbiol Immunol 21:283-8. 2006..These characteristics may account for why E. faecalis is frequently isolated from acidic caries lesions and from persistently infected root canals where calcium hydroxide medication is ineffective...
Nested polymerase chain reaction for assessing the clinical course of tuberculous meningitisT Takahashi
Division of Neurology, Advanced Medical Research Center, Nihon University School of Medicine, Tokyo, Japan
Neurology 64:1789-93. 2005..During anti-tuberculosis treatments, N-PCR results converted from positive to negative, correlating with the improvement of the patient's clinical condition...
[Usefulness of self ligation mediated polymerase chain reaction: a rapid method for fingerprinting in molecular epidemiology of tuberculosis]A Ruhul
Division of Organ Transplantation, Biomedical Research Center, Osaka University Graduate School of Medicine, Japan
Kekkaku 76:9-18. 2001..By using this method, M. tuberculosis strains can be differentiated within 8 hours...
Occurrence of nonylphenol, nonylphenol ethoxylate surfactants and nonylphenol carboxylic acids in wastewater in JapanK Komori
Water Environment Research Group, Public Works Research Institute, Tsukuba, Ibaraki, Japan
Water Sci Technol 53:27-33. 2006..removal efficiency for the short EO chain NPnEO was less significant than the long EO chain NPnEO, suggesting that the degradation rate of the short EO chain NPnEO was lower than that of the long EO chain NPnEO in the wastewater treatment..
Abnormal messenger ribonucleic acid (mRNA) transcribed from a mutant insulin receptor gene in a patient with type A insulin resistanceF Shimada
Second Department of Internal Medicine, Chiba University School of Medicine, Japan
Diabetologia 35:639-44. 1992..Thus, the proband is a heterozygote for a single mutant allele. Abnormal mRNA transcribed from the mutant allele resulted in a decrease in insulin binding...
Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry diseaseS Ishii
Department of Clinical Genetics, Tokyo Metropolitan Institute of Medical Sciences, Japan
Hum Genet 89:29-32. 1992....
Epidemiological investigation of a fatal case of cholera in Japan by phenotypic techniques and pulsed-field gel electrophoresisM Matsumoto
Department of Microbiology, Aichi Prefectural Institute of Public Health, Nagoya, Aichi, Japan
J Med Microbiol 51:264-8. 2002..These results suggest that a new clone was introduced after 1993 from overseas and then disseminated into Aichi, and this may have been an important step in triggering the fatal case of cholera...
Molecular analysis of the deletion mutants in the E homeotic complex of the silkworm Bombyx moriK Ueno
National Institute for Basic Biology, Okazaki, Japan
Development 114:555-63. 1992..From these results, we conclude that the Bombyx E complex consists of the Ubx, abd-A and possibly Abd-B genes, which may play similar roles to their homologues in the Drosophila bithorax complex...
A human gene responsible for Zellweger syndrome that affects peroxisome assemblyN Shimozawa
Department of Pediatrics, Gifu University School of Medicine, Japan
Science 255:1132-4. 1992..The homozygous patient apparently inherited the mutation from her parents, each of whom was heterozygous for that mutation...
Duck and human pandemic influenza A viruses retain sialidase activity under low pH conditionsT Takahashi
Department of Biochemistry, University of Shizuoka, School of Pharmaceutical Sciences, Shizuoka 422-8526, Japan
J Biochem 130:279-83. 2001....
Analysis of the insulin-sensitive phosphodiesterase 3B gene in type 2 diabetesR Sano
Department of Clinical Cell Biology, Graduate School of Medicine, Chiba University, 1 8 1 Inohana, Chuo Ku, 260 8670, Chiba, Japan
Diabetes Res Clin Pract 54:79-88. 2001..In conclusion, alterations in the PDE3B gene are unlikely to contribute importantly to the pathogenesis of type 2 diabetes mellitus or lipoatrophic diabetes mellitus in Japan...
GM1-gangliosidosis: tandem duplication within exon 3 of beta-galactosidase gene in an infantile patientA Oshima
Department of Clinical Genetics, Tokyo Metropolitan Institute of Medical Science, Japan
Clin Genet 41:235-8. 1992..A single base substitution 316Trp----Cys was found in the other allele. Family study showed that the duplication was transmitted from his father and the base substitution from his mother...
Association of the mitochondrial DNA 5178A/C polymorphism with maternal inheritance and onset of type 2 diabetes in Japanese patientsD Wang
Third Department of Internal Medicine, Showa University School of Medicine, 1 5 8, Hatanodai, Shinagawa, Tokyo 142 8666, Japan
Exp Clin Endocrinol Diabetes 109:361-4. 2001..5 +/- 10.0 years; P = 0.0073). The mt5178A/C polymorphism may be associated with maternal inheritance of type 2 diabetes and may influence the age at onset through deterioration of mitochondrial function...
Phylogenetic analysis of field isolates of feline calcivirus (FCV) in Japan by sequencing part of its capsid geneY Sato
Department of Microbiology, School of Veterinary Medicine, Azabu University, Fuchinobe, Kanagawa-ken, Japan
Vet Res Commun 26:205-19. 2002....
Preventive effect of sulphated colominic acid on P-selectin-dependent infiltration of macrophages in experimentally induced crescentic glomerulonephritisD Ogawa
Department of Medicine III, Okayama University Medical School, Japan
Clin Exp Immunol 129:43-53. 2002..Moreover, SCA may inhibit intraglomerular infiltration of macrophages by interfering with P-selectin-dependent adhesion pathway, and progression of experimental crescentic glomerulonephritis...
Diversification of Cercopithifilaria species (Nematoda: Filarioidea) in Japanese wild ruminants with description of two new speciesS Uni
Department of Medical Zoology, Osaka City University Medical School, Osaka 545 8585, Japan
Parasite 9:293-304. 2002..longa type derived from Eurasiatic ancestors, which has disappeared or, more probably, not yet been discovered...
Natural history of extensive Mongolian spots in mucopolysaccharidosis type II (Hunter syndrome): a survey among 52 Japanese patientsT Ochiai
Department of Dermatology, Surugadai Nihon University Hospital, Tokyo, Japan
J Eur Acad Dermatol Venereol 21:1082-5. 2007..However, a statistical survey of the incidence and natural history of extensive Mongolian spots among the patients with Hunter syndrome is lacking...
Bacterial superantigens and T cell receptor beta-chain-bearing T cells in the immunopathogenesis of ulcerative colitisN Shiobara
Department of Rheumatology and Clinical Immunology, Clinical Research Center for Allergy and Rheumatology, National Sagamihara Hospital, Kanagawa, Japan
Clin Exp Immunol 150:13-21. 2007..Future studies should strengthen our findings and increase understanding on the aetiology of IBD...
Study on risk management of heavy metals for reuse of biosolidsM Ozaki
Material and Geotechnical Engineering Research Group, Public Works Research Institute, Tsukuba, Japan
Water Sci Technol 53:189-95. 2006..Therefore, it was considered that the acid extractable contents of heavy metal would be important...
Association between ADAM33 polymorphisms and adult asthma in the Japanese populationT Hirota
Laboratory for Genetics of Allergic Diseases, SNP Research Center, The Institute of Physical and Chemical Research RIKEN, Yokohama, Japan
Clin Exp Allergy 36:884-91. 2006..It is important to know whether the association exists in ethnically diverse populations...
The effect of 5-hydroxytryptamine 3A and 3B receptor genes on nausea induced by paroxetineT Sugai
Department of Psychiatry, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
Pharmacogenomics J 6:351-6. 2006..The mean score of nausea severity was corrected by the Bonferroni test. HTR3B gene polymorphisms are significant predictors of paroxetine-induced nausea...
Development of on-site fish exposure system placed in water quality monitoring stations along a riverT Higashitani
Water Quality Research Team, Public Works Research Institute, 1 6, Minami hara, Tsukuba, Ibaraki, 305 8516 Japan
Water Sci Technol 52:275-82. 2005..Furthermore, after continuous 2-week exposure, the vitellogenin production of male medaka was reduced similar to the decrease of the concentrations of the estrone and the estrogenic activity of river water...
The sequential accumulation of genetic alterations characteristic of the colorectal adenoma-carcinoma sequence does not occur between gastric adenoma and adenocarcinomaC Maesawa
Department of Pathology, Iwate Medical University School of Medicine, Morioka, Japan
J Pathol 176:249-58. 1995..The considerable differences in the incidences of genetic alterations between gastric adenoma and carcinoma indicate that the sequential development of gastric carcinoma from adenoma is uncommon in gastric carcinogenesis...
Paraoxonase 1 Gln/Arg polymorphism is associated with the risk of microangiopathy in Type 2 diabetes mellitusM Murata
Department of Medicine, Keio University, Tokyo, Japan
Diabet Med 21:837-44. 2004..To investigate possible associations between diabetic microangiopathy and genetic polymorphisms in factors relevant to arterial thrombosis...
Load of heavy metals in the airborne dust particulates of an urban city of central IndiaManisha Thakur
School of Studies in Chemistry, Pt. Ravishankar Shukla University, Raipur, Chhattisgarh, India
Environ Monit Assess 95:257-68. 2004..These large levels of metal pollutants have also been correlated with some meteorological parameters like temperature, relative humidity and wind velocity, and strong positive correlations have been observed...
Green tea and the risk of breast cancer: pooled analysis of two prospective studies in JapanY Suzuki
Department of Public Health and Forensic Medicine, Tohoku University Graduate School of Medicine, Sendai 980 8575, Japan
Br J Cancer 90:1361-3. 2004..84 (95% confidence interval 0.57-1.24, Trend P=0.69)...
Removal of suspended substances by coagulation and foam separation from municipal wastewaterY Suzuki
Department of Civil and Environmental Engineering, Miyazaki University, 1-1, Gakuen Kibanadainishi, Miyazaki 889-2192, Japan
Water Sci Technol 46:183-8. 2002..It became clear that coagulation and foam separation using casein as the collector is an effective method for removing suspended solids in municipal wastewater in a short time (within 10 min)...
Intravenous catheter-related septic shock caused by Staphylococcus sciuri and Escherichia vulnerisT Horii
Department of Laboratory Medicine, Hamamatsu University School of Medicine, Japan
Scand J Infect Dis 33:930-2. 2001..Our results also showed that S. sciuri is an important reservoir of genetic determinants of beta-lactam resistance as a human pathogen carrying the mecA and beta-lactamase genes...
Water reuse in JapanM Ogoshi
Advanced Wastewater Treatment Division, Public Works Research Institute, Ministry of Construction, Asahi 1, Tsukuba-shi, Ibaraki-ken 305-0804, Japan
Water Sci Technol 43:17-23. 2001..This paper summarizes the current status of water reuse in Japan and discusses dominant uses of reclaimed water, emphasizing non-potable urban applications such as toilet flushing, industrial reuse, and environmental water...
Clinical and molecular analysis of a Japanese boy with Morquio B diseaseN Ishii
Department of Clinical Genetics, Tokyo Metropolitan Institute of Medical Science, Japan
Clin Genet 48:103-8. 1995..Gene analysis revealed two mutant alleles, 83Tyr-->His (Y83H) and 482Arg-->Cys (R482C). The former expressed a low enzyme activity (2-5% of normal), and the latter expressed no detectable enzyme activity...
[Epidemiological characteristics and virulence factor of verotoxin-producing Eschericia coli O121:H19 isolated in Akita Prefecture in July 1997]J Yatsuyanagi
Akita Prefectural Institute of Public Health
Kansenshogaku Zasshi 73:218-24. 1999..Antiserum for E. coli serogroup O121 should be manufactured to clarify the epidemiology of the highly virulent VTEC strain...
A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctataN Shimozawa
Department of Pediatrics, Gifu University School of Medicine, Japan
J Hum Genet 44:123-5. 1999..R232ter, which deletes all of the last two WP40 repeats in the PEX7 gene, is sufficient to inactivate functions of the PEX7 gene...
A missense mutation in the CD38 gene, a novel factor for insulin secretion: association with Type II diabetes mellitus in Japanese subjects and evidence of abnormal function when expressed in vitroK Yagui
Department of Internal Medicine II, Chiba University School of Medicine, Japan
Diabetologia 41:1024-8. 1998..The Arg140Trp mutation on CD38 thus appears to contribute to the development of Type II diabetes mellitus via the impairment of glucose-induced insulin secretion in the presence of other genetic defects...
Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11S Kure
Department of Medical Genetics, Tohoku University School of Medicine, Seiryo machi, Aoba ku, Sendai 980 8574, Japan
Biochem Biophys Res Commun 248:426-31. 1998..The W118R mutation was found in 4 out of 8 mutant alleles, suggesting that it is prevalent among Japanese patients...
Molecular cloning and functional expression of a human peroxisomal acyl-coenzyme A oxidaseT Aoyama
Department of Biochemistry, Shinshu University School of Medicine, Nagano, Japan
Biochem Biophys Res Commun 198:1113-8. 1994....
A new compound heterozygous mutation (W17X, 436 + 5G --> T) in the cytochrome P450c17 gene causes 17 alpha-hydroxylase/17,20-lyase deficiencyY Suzuki
Department of Pediatrics, Gunma University School of Medicine, Japan
J Clin Endocrinol Metab 83:199-202. 1998..The present findings indicate that in this patient, 17 alpha-hydroxylase/17,20-lyase deficiency was caused by the compound heterozygous mutation of exon and splice site mutation in cytochrome P450c17 gene...
Polymorphism in ALDH2-genotype in Japanese men and the alcohol-blood pressure relationshipI Tsuritani
Department of Hygiene, Kanazawa Medical University, Ishikawa, Japan
Am J Hypertens 8:1053-9. 1995..It can be concluded that polymorphism in the ALDH2-genotype found in Japanese men does not affect the individual sensitivity to the pressor effect of alcohol...
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...
Mutations in the TIGR gene in familial primary open-angle glaucoma in JapanY Suzuki
Am J Hum Genet 61:1202-4. 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 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...
Inactivation of the E-cadherin gene in primary gastric carcinomas and gastric carcinoma cell linesG Tamura
Department of Pathology, Iwate Medical University School of Medicine, Uchimaru, Morioka
Jpn J Cancer Res 87:1153-9. 1996..These data provide support for classic two-hit inactivation of the E-cadherin gene in a high percentage of undifferentiated carcinomas of the scattered type...
Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiencyT Matsuura
Department of Pediatrics, Kumamoto University School of Medicine, Japan
Hum Mutat 3:402-6. 1994
Fluorescence in situ hybridization analysis of chromosomal localization of three human cytochrome P450 2C genes (CYP2C8, 2C9, and 2C10) at 10q24.1K Inoue
Osaka Prefectural Institute of Public Health, Japan
Jpn J Hum Genet 39:337-43. 1994..The results showed that three human CYP2C8, 2C9, and 2C10 cDNAs were located at the same subchromosomal region, 10q24.1...
Serovars of Erysipelothrix species isolated from the tonsils of healthy cattle in JapanR Hassanein
Department of Veterinary Microbiology, Nippon Veterinary and Animal Science University, Musashino, Tokyo 180-8602, Japan
Vet Microbiol 82:97-100. 2001..Of 42 isolates identified as Erysipelothrix rhusiopathiae, 4, 6, 2, 3, 1,12, 13 and 1 isolates belonged to serovars 1b, 2, 5, 9, 12, 13, 19 and 21, respectively. One isolate belonged to Erysipelothrix tonsillarum serovar 3...
Mannose-binding lectin gene: polymorphisms in Japanese patients with systemic lupus erythematosus, rheumatoid arthritis and Sjögren's syndromeA Tsutsumi
Department of Internal Medicine, Institute of Clinical Medicine, University of Tsukuba, Tennodai, Japan
Genes Immun 2:99-104. 2001..We conclude that persons homozygous for codon 54 mutation of the MBL gene may be prone to occurrence of autoimmune disorders including SLE, in the Japanese. MBL may have protective effects on occurrence and progression of SLE...
Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic casesK Yoshida
Department of Clinical Genetics, Tokyo Metropolitan Institute of Medical Science, Japan
Am J Hum Genet 49:435-42. 1991..Genotype-phenotype correlations in GM1-gangliosidosis are briefly discussed...
A new point mutation within exon 5 of beta-hexosaminidase alpha gene in a Japanese infant with Tay-Sachs diseaseT Nakano
Department of Neurology, University of North Carolina School of Medicine, Chapel Hill
Ann Neurol 27:465-73. 1990....
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
Mutations in the hepatocyte nuclear factor-4alpha gene in Japanese with non-insulin-dependent diabetes: a nucleotide substitution in the polypyrimidine tract of intron 1bK Sakurai
Department of Internal Medicine II, Chiba University School of Medicine, Japan
Horm Metab Res 32:316-20. 2000....
Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in JapanM Okubo
Department of Endocrinology and Metabolism, Toranomon Hospital, Tokyo, Japan
Hum Genet 106:108-15. 2000..These results demonstrate the importance of the integrity of the carboxy terminal domain in the AGL protein and the molecular heterogeneity of GSD IIIa in Japan...
Compound heterozygous patient with glycogen storage disease type III: identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese originM Okubo
Department of Endocrinology and Metabolism, Toranomon Hospital and Okinaka Memorial Institute for Medical Research, Tokyo, Japan
Am J Med Genet 93:211-4. 2000..To our knowledge, this is the first report of a mutation identified in a GSD III patient from the Chinese population...
Insulin-stimulated phosphorylation of recombinant pp120/HA4, an endogenous substrate of the insulin receptor tyrosine kinaseS M Najjar
Diabetes Branch, National Institute of Diabetes and Digestive and Kidney Disease, National Institutes of Health, Bethesda, Maryland 20892, USA
Biochemistry 34:9341-9. 1995..These data suggest that tyrosine phosphorylation of pp120/HA4 may regulate Ca2+/Mg(2+)-dependent ecto-ATPase activity...
Embryonic silk gland development in Bombyx: molecular cloning and expression of the Bombyx trachealess geneK Matsunami
Graduate University for Advanced Studies, Myodaiji cho, Okazaki 444 8585, Japan
Dev Genes Evol 209:507-14. 1999..These results suggest that Bombyx trh plays a role in the formation of the trachea and the anterior silk glands...
Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteinsT Okumiya
Department of Clinical Genetics, Tokyo Metropolitan Institute of Medical Science, Japan
Hum Genet 95:557-61. 1995..Both A156V and L166V expressed significant amounts of residual enzyme activity (6.7% and 9.8%) and enzyme proteins (10% each), the latter were more thermolabile at neutral pH than at acid pH, in vitro...
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....
[Outcome of initial treatment with high-dose vitamin B6, valproate sodium or clonazepam in West syndrome]Y Suzuki
Department of Pediatrics, Osaka University Medical School
No To Hattatsu 28:398-402. 1996..Symptomatic "nonresponders" had the worst prognosis. Our results suggest that choice of drug in the initial treatment of West syndrome should be determined by clinical features (especially etiology)...
