Yoko Matsuzaki

Summary

Affiliation: Yamagata University
Country: Japan

Publications

  1. ncbi request reprint Epidemiological information regarding the periodic epidemics of influenza C virus in Japan (1996-2013) and the seroprevalence of antibodies to different antigenic groups
    Yoko Matsuzaki
    Department of Infectious Diseases, Yamagata University Faculty of Medicine, Iida Nishi, Yamagata 990 9585, Japan Electronic address
    J Clin Virol 61:87-93. 2014
  2. ncbi request reprint Human metapneumovirus infection among family members
    Y Matsuzaki
    Department of Infectious Diseases, Yamagata University Faculty of Medicine, Iida nishi 2 2 2, Yamagata, Japan
    Epidemiol Infect 141:827-32. 2013
  3. doi request reprint Detection and quantification of influenza C virus in pediatric respiratory specimens by real-time PCR and comparison with infectious viral counts
    Yoko Matsuzaki
    Department of Infectious Diseases, Yamagata University Faculty of Medicine, Iida nishi 2 2 2, Yamagata 990 9585, Japan
    J Clin Virol 54:130-4. 2012
  4. pmc Comparison of virus isolation using the Vero E6 cell line with real-time RT-PCR assay for the detection of human metapneumovirus
    Yoko Matsuzaki
    Department of Microbiology, Yamagata Prefectural Institute of Public Health, Tokamachi 1 6 6, Yamagata 990 0031, Japan
    BMC Infect Dis 10:170. 2010
  5. pmc Evaluation of a new rapid antigen test using immunochromatography for detection of human metapneumovirus in comparison with real-time PCR assay
    Yoko Matsuzaki
    Course of Clinical Nursing, Yamagata University Faculty of Medicine, Iida nishi 2 2 2, Yamagata 990 9585, Japan
    J Clin Microbiol 47:2981-4. 2009
  6. ncbi request reprint Clinical impact of human metapneumovirus genotypes and genotype-specific seroprevalence in Yamagata, Japan
    Yoko Matsuzaki
    Course of Clinical Nursing, Yamagata University Faculty of Medicine, Iida Nishi, Yamagata, Japan
    J Med Virol 80:1084-9. 2008
  7. pmc Isolation of an influenza C virus introduced into Japan by a traveler from Malaysia
    Yoko Matsuzaki
    Department of Bacteriology, Yamagata University School of Medicine, Iida Nishi, Yamagata 990 9585, Japan
    J Clin Microbiol 43:993-5. 2005
  8. pmc A nationwide epidemic of influenza C virus infection in Japan in 2004
    Yoko Matsuzaki
    Department of Infectious Diseases, Yamagata University School of Medicine, Iida nishi 2 2 2, Yamagata 990 9585, Japan
    J Clin Microbiol 45:783-8. 2007
  9. ncbi request reprint Genetic diversity of influenza B virus: the frequent reassortment and cocirculation of the genetically distinct reassortant viruses in a community
    Yoko Matsuzaki
    Department of Bacteriology, Yamagata University School of Medicine, Iida Nishi, Yamagata, Japan
    J Med Virol 74:132-40. 2004
  10. pmc A two-year survey of the oseltamivir-resistant influenza A(H1N1) virus in Yamagata, Japan and the clinical effectiveness of oseltamivir and zanamivir
    Yoko Matsuzaki
    Course of Clinical Nursing, Yamagata University Faculty of Medicine, Yamagata 990 9585, Japan
    Virol J 7:53. 2010

Collaborators

Detail Information

Publications56

  1. ncbi request reprint Epidemiological information regarding the periodic epidemics of influenza C virus in Japan (1996-2013) and the seroprevalence of antibodies to different antigenic groups
    Yoko Matsuzaki
    Department of Infectious Diseases, Yamagata University Faculty of Medicine, Iida Nishi, Yamagata 990 9585, Japan Electronic address
    J Clin Virol 61:87-93. 2014
    ..Although influenza C virus is widely distributed throughout the world, epidemiological information, based on long-term surveillance, has not yet been acquired...
  2. ncbi request reprint Human metapneumovirus infection among family members
    Y Matsuzaki
    Department of Infectious Diseases, Yamagata University Faculty of Medicine, Iida nishi 2 2 2, Yamagata, Japan
    Epidemiol Infect 141:827-32. 2013
    ..These results suggest that the control of school-based outbreaks is important for preventing hMPV infection in infants...
  3. doi request reprint Detection and quantification of influenza C virus in pediatric respiratory specimens by real-time PCR and comparison with infectious viral counts
    Yoko Matsuzaki
    Department of Infectious Diseases, Yamagata University Faculty of Medicine, Iida nishi 2 2 2, Yamagata 990 9585, Japan
    J Clin Virol 54:130-4. 2012
    ..The epidemiological and clinical impacts of influenza C virus infection may have been underestimated by conventional viral culture screening alone...
  4. pmc Comparison of virus isolation using the Vero E6 cell line with real-time RT-PCR assay for the detection of human metapneumovirus
    Yoko Matsuzaki
    Department of Microbiology, Yamagata Prefectural Institute of Public Health, Tokamachi 1 6 6, Yamagata 990 0031, Japan
    BMC Infect Dis 10:170. 2010
    ..We aimed to compare the results of virus isolation using Vero E6 cells with real-time RT-PCR for the detection of hMPV, since such a comparison data is not available...
  5. pmc Evaluation of a new rapid antigen test using immunochromatography for detection of human metapneumovirus in comparison with real-time PCR assay
    Yoko Matsuzaki
    Course of Clinical Nursing, Yamagata University Faculty of Medicine, Iida nishi 2 2 2, Yamagata 990 9585, Japan
    J Clin Microbiol 47:2981-4. 2009
    ..The overall sensitivity and specificity were 82.3% and 93.8%, respectively, suggesting that this test is useful for pediatricians to diagnose hMPV infection in a clinical setting...
  6. ncbi request reprint Clinical impact of human metapneumovirus genotypes and genotype-specific seroprevalence in Yamagata, Japan
    Yoko Matsuzaki
    Course of Clinical Nursing, Yamagata University Faculty of Medicine, Iida Nishi, Yamagata, Japan
    J Med Virol 80:1084-9. 2008
    ....
  7. pmc Isolation of an influenza C virus introduced into Japan by a traveler from Malaysia
    Yoko Matsuzaki
    Department of Bacteriology, Yamagata University School of Medicine, Iida Nishi, Yamagata 990 9585, Japan
    J Clin Microbiol 43:993-5. 2005
    ..The possibility that a genetically unique influenza C virus was introduced into Japan by a traveler is shown...
  8. pmc A nationwide epidemic of influenza C virus infection in Japan in 2004
    Yoko Matsuzaki
    Department of Infectious Diseases, Yamagata University School of Medicine, Iida nishi 2 2 2, Yamagata 990 9585, Japan
    J Clin Microbiol 45:783-8. 2007
    ..These results suggest that an epidemic of influenza C virus occurred on a national scale during this period and that RT-PCR can be an effective supplemental tool for the evaluation of clinical and epidemiological information...
  9. ncbi request reprint Genetic diversity of influenza B virus: the frequent reassortment and cocirculation of the genetically distinct reassortant viruses in a community
    Yoko Matsuzaki
    Department of Bacteriology, Yamagata University School of Medicine, Iida Nishi, Yamagata, Japan
    J Med Virol 74:132-40. 2004
    ....
  10. pmc A two-year survey of the oseltamivir-resistant influenza A(H1N1) virus in Yamagata, Japan and the clinical effectiveness of oseltamivir and zanamivir
    Yoko Matsuzaki
    Course of Clinical Nursing, Yamagata University Faculty of Medicine, Yamagata 990 9585, Japan
    Virol J 7:53. 2010
    ....
  11. pmc Antigenic and genetic characterization of influenza C viruses which caused two outbreaks in Yamagata City, Japan, in 1996 and 1998
    Y Matsuzaki
    Department of Bacteriology, Yamagata University School of Medicine, Iida Nishi, Yamagata 990 9585, Japan
    J Clin Microbiol 40:422-9. 2002
    ..These observations suggest strongly that during the survey period of 3 years, two outbreaks of influenza C occurred in Yamagata City, both of which were caused by a reassortant virus having the genome composition described above...
  12. pmc Frequent reassortment among influenza C viruses
    Y Matsuzaki
    Department of Bacteriology, Yamagata University School of Medicine, Japan
    J Virol 77:871-81. 2003
    ..This observation suggests that the reassortment between two different influenza C virus strains occurs frequently in nature and the genome composition of influenza C viruses may influence their ability to spread in humans...
  13. ncbi request reprint Clinical features of influenza C virus infection in children
    Yoko Matsuzaki
    Department of Infectious Diseases, Yamagata University School of Medicine, Iida Nishi, Yamagata, Japan
    J Infect Dis 193:1229-35. 2006
    ..Seroepidemiological studies have revealed that influenza C virus is widely distributed globally. However, because the isolation of this virus is difficult, there have been few reports on its clinical features...
  14. ncbi request reprint Seasonal patterns of respiratory syncytial virus, influenza A virus, human metapneumovirus, and parainfluenza virus type 3 infections on the basis of virus isolation data between 2004 and 2011 in Yamagata, Japan
    Katsumi Mizuta
    Department of Microbiology, Yamagata Prefectural Institute of Public Health, Yamagata 990 0031, Japan mizutak pref yamagata jp
    Jpn J Infect Dis 66:140-5. 2013
    ....
  15. pmc Influenza C virus NS1 protein upregulates the splicing of viral mRNAs
    Yasushi Muraki
    Department of Infectious Diseases, Yamagata University School of Medicine, 2 2 2 Iida nishi, Yamagata 990 9585, Japan
    J Virol 84:1957-66. 2010
    ..The splicing of influenza A virus M mRNA was also increased by coexpression of C/NS1, though it was inhibited by that of A/NS1. These results suggest that influenza C virus NS1, but not A/NS1, can upregulate viral mRNA splicing...
  16. doi request reprint Endemicity of human metapneumovirus subgenogroups A2 and B2 in Yamagata, Japan, between 2004 and 2009
    Katsumi Mizuta
    Department of Microbiology, Yamagata Prefectural Institute of Public Health, Japan
    Microbiol Immunol 54:634-8. 2010
    ..9%), followed by B2 (108/280; 38.6%) and B1 (19/280; 6.8%). Our results suggested that A2 and B2 have been endemically in circulation as the major types almost every year, whereas other subgenogroups have appeared less frequently...
  17. doi request reprint Saffold cardiovirus infection in children associated with respiratory disease and its similarity to coxsackievirus infection
    Tsutomu Itagaki
    Yamanobe Pediatric Clinic, Yamagata, Japan
    Pediatr Infect Dis J 30:680-3. 2011
    ..The epidemiology and pathogenicity of SAFV remain unclear...
  18. doi request reprint Molecular epidemiology of Coxsackievirus A16 strains isolated from children in Yamagata, Japan between 1988 and 2011
    Katsumi Mizuta
    Department of Microbiology, Yamagata Prefectural Institute of Public Health, Tokamachi 1 6 6, Yamagata 990 0031, Japan
    Microbiol Immunol 57:400-5. 2013
    ..The first genogroup includes only the prototype strain, the second strains that had disappeared by the end of the 20th century and the third comprises those that have been circulating since then in local communities, such as Yamagata...
  19. doi request reprint Epidemiology of parainfluenza virus types 1, 2 and 3 infections based on virus isolation between 2002 and 2011 in Yamagata, Japan
    Katsumi Mizuta
    Department of Microbiology, Yamagata Prefectural Institute of Public Health, Yamagata, Yamagata 990 0031, Japan
    Microbiol Immunol 56:855-8. 2012
    ..Although no reliable techniques for the laboratory diagnosis of these infections have been established, the present results suggest that HPIV1-3 are an important causative agent of ARIs in children...
  20. pmc Effect of the addition of oligosaccharides on the biological activities and antigenicity of influenza A/H3N2 virus hemagglutinin
    Yasuhiro Abe
    Department of Bacteriology, Yamagata University School of Medicine, Iida Nishi, Yamagata 990 9585, Japan
    J Virol 78:9605-11. 2004
    ....
  21. ncbi request reprint Role of overlapping glycosylation sequons in antigenic properties, intracellular transport and biological activities of influenza A/H2N2 virus haemagglutinin
    Emi Tsuchiya
    Department of Bacteriology, Yamagata University School of Medicine, Iida Nishi, Yamagata 990 9585, Japan
    J Gen Virol 83:3067-74. 2002
    ....
  22. ncbi request reprint Conformational maturation of the nucleoprotein synthesized in influenza C virus-infected cells
    Kanetsu Sugawara
    Department of Infectious Diseases, Yamagata University School of Medicine, Iida Nishi, Yamagata 990 9585, Japan
    Virus Res 122:45-52. 2006
    ..A single expression of NP cDNA in COS-1 cells demonstrated that the NP maturation was an intrinsic feature of the NP molecule without relation to other viral components...
  23. ncbi request reprint Analysis of monthly isolation of respiratory viruses from children by cell culture using a microplate method: a two-year study from 2004 to 2005 in yamagata, Japan
    Katsumi Mizuta
    Department of Microbiology, Yamagata Prefectural Institute of Public Health, Yamagata 990 0031, Japan
    Jpn J Infect Dis 61:196-201. 2008
    ..In conclusion, we verified that the modified microplate method was able to clarify the etiology and epidemiology of numerous viruses isolated from children with ARI...
  24. doi request reprint Intracellular localization of influenza C virus NS2 protein (NEP) in infected cells and its incorporation into virions
    Yoshihiko Kohno
    Department of Bacteriology, Faculty of Medicine, Yamagata University, Iida Nishi, Yamagata 990 9585, Japan
    Arch Virol 154:235-43. 2009
    ..These data suggest that the influenza C virus NS2 protein is incorporated into virions, where it associates with vRNP...
  25. ncbi request reprint Stability of the seven hexon hypervariable region sequences of adenovirus types 1-6 isolated in Yamagata, Japan between 1988 and 2007
    Katsumi Mizuta
    Department of Microbiology, Yamagata Prefectural Institute of Public Health, Tokamachi 1 6 6, Yamagata 990 0031, Japan
    Virus Res 140:32-9. 2009
    ....
  26. pmc Role of the CM2 protein in the influenza C virus replication cycle
    Takatoshi Furukawa
    Department of Infectious Diseases, Yamagata University Faculty of Medicine, 2 2 2 Iida nishi, Yamagata 990 9585, Japan
    J Virol 85:1322-9. 2011
    ..Taken together, the data obtained in the present study indicate that CM2 has a potential role in the genome packaging and uncoating processes of the virus replication cycle...
  27. pmc A mutation on influenza C virus M1 protein affects virion morphology by altering the membrane affinity of the protein
    Yasushi Muraki
    Department of Infectious Diseases, Yamagata University School of Medicine, Iida Nishi, 990 9585, Yamagata, Japan
    J Virol 81:8766-73. 2007
    ....
  28. doi request reprint Palmitoylation of CM2 is dispensable to influenza C virus replication
    Yasushi Muraki
    Department of Microbiology, Kanazawa Medical University School of Medicine, 1 1 Daigaku, Uchinada, Ishikawa 920 0293, Japan
    Virus Res 157:99-105. 2011
    ..These findings indicate that defect in palmitoylation of CM2 does not affect transport and maturation of HEF, NP and M1 as well as CM2 in virus-infected cells, and palmitoylation of CM2 is dispensable to influenza C virus replication...
  29. doi request reprint Acute respiratory infections due to enterovirus 68 in Yamagata, Japan between 2005 and 2010
    Tatsuya Ikeda
    Department of Microbiology, Yamagata Prefectural Institute of Public Health, Yamagata, Japan
    Microbiol Immunol 56:139-43. 2012
    ..Phylogenetic analysis indicated that plural genetically distinct clusters co-circulated. These results suggest that that difficulty in EV68 isolation leads to an underestimation of the prevalence of EV68 infections...
  30. ncbi request reprint [Diagnostic tests: Influenza A, B, C viruses]
    Yoko Matsuzaki
    Department of Bacteriology, Yamagata University School of Medicine
    Nihon Rinsho 63:346-8. 2005
  31. ncbi request reprint An outbreak of measles virus infection due to a genotype D9 at a junior high school in Yamagata, Japan in 2004
    Katsumi Mizuta
    Department of Microbiology, Yamagata Prefectural Institute of Public Health, Yamagata 990 0031, Japan
    Jpn J Infect Dis 58:98-100. 2005
    ..The more the number of measles cases decrease, the more important become the roles of public health laboratories, which genotype MVs and monitor their circulation and transmission pathways...
  32. ncbi request reprint A slow spread of adenovirus type 7 infection after its re-emergence in Yamagata, Japan, in 1995
    Katsumi Mizuta
    Department of Microbiology, Yamagata Prefectural Institute of Public Health, Yamagata, Japan
    Microbiol Immunol 50:553-8. 2006
    ..3-16.7% in 1997 and 0% in 1993. Our results suggest that a re-emergence does not always provoke a sudden major outbreak, even if the antibody-positive rate against Ad7 is low in the local community...
  33. ncbi request reprint Prolonged norovirus shedding in infants <or=6 months of age with gastroenteritis
    Toshio Murata
    Department of Microbiology, Yamagata Prefectural Institute of Public Health, Yamagata, Japan
    Pediatr Infect Dis J 26:46-9. 2007
    ..Noroviruses (NV) are one of the leading causes of gastroenteritis in young children; however, the duration of NV shedding in young children is not well known...
  34. ncbi request reprint Identification of an amino acid residue on influenza C virus M1 protein responsible for formation of the cord-like structures of the virus
    Yasushi Muraki
    Department of Bacteriology, Yamagata University School of Medicine, Iida Nishi, Yamagata 990 9585, Japan
    J Gen Virol 85:1885-93. 2004
    ..Evidence was obtained by electron microscopy that transfected cells bearing cords produced filamentous VLPs, suggesting the potential role of the M1 protein in determining the filamentous/spherical morphology of influenza C virus...
  35. ncbi request reprint Reactivation of herpes simplex virus type 1 and varicella-zoster virus and therapeutic effects of combination therapy with prednisolone and valacyclovir in patients with Bell's palsy
    Kazuhiro Kawaguchi
    Department of Otolaryngology, Yamagata University School of Medicine, Yamagata, Japan
    Laryngoscope 117:147-56. 2007
    ..To determine whether reactivation of herpes simplex virus (HSV) type 1 or varicella-zoster virus (VZV) is the main cause of Bell's palsy and whether antiviral drugs bring about recovery from Bell's palsy...
  36. doi request reprint Community outbreak of macrolide-resistant Mycoplasma pneumoniae in Yamagata, Japan in 2009
    Yu Suzuki
    Department of Microbiology, Yamagata Prefectural Institute of Public Health, Yamagata, Japan
    Pediatr Infect Dis J 32:237-40. 2013
    ..We detected a community outbreak of macrolide-resistant Mycoplasma pneumoniae infection that occurred predominantly among students at 2 schools in Yamagata, Japan...
  37. ncbi request reprint Effect of addition of new oligosaccharide chains to the globular head of influenza A/H2N2 virus haemagglutinin on the intracellular transport and biological activities of the molecule
    Emi Tsuchiya
    Department of Bacteriology, Yamagata University School of Medicine, Iida Nishi, Yamagata 990 9585, Japan
    J Gen Virol 83:1137-46. 2002
    ..Thus, influenza A/H2N2 virus may have failed to increase the number of oligosaccharides on the HA because, if this happens, the biological activities of the HA are reduced, decreasing the ability of the virus to replicate in humans...
  38. ncbi request reprint [Detection of influenza virus (RT-PCR assay and others)]
    Yoko Matsuzaki
    Department of Bacteriology, Yamagata University School of Medicine
    Nihon Rinsho 61:1909-13. 2003
    ..These RT-PCR methods should be useful for the accurate and rapid diagnosis of influenza virus infection, especially severe cases such as pneumonia and encephalopathy...
  39. ncbi request reprint A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation
    Fumiaki Kamada
    Department of Medical Genetics, Tohoku University School of Medicine, 1 1 Seiryo machi, Aoba ku, Sendai 980 8574, Japan
    J Hum Genet 51:455-60. 2006
    ..The phenotypic difference may be caused by the difference in pathogenic mechanisms: haploinsufficiency in deletions and dominant-negative effect in missense mutations...
  40. ncbi request reprint Linkage and association of childhood asthma with the chromosome 12 genes
    Chenchen Shao
    Department of Medical Genetics, Tohoku University School of Medicine, 1 1 Seiryo machi, Aoba ku, Sendai 980 8574, Japan
    J Hum Genet 49:115-22. 2004
    ..Our results suggest that NOS1 and STAT6 are asthma-susceptibility genes and that chromosome region 12q24.23-q24.33 contains other susceptibility gene(s)...
  41. ncbi request reprint Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome
    Yoko Narumi
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Am J Med Genet A 143:799-807. 2007
    ....
  42. ncbi request reprint A novel insertion mutation of acetazolamide-responsive episodic ataxia in a Japanese family
    Zenjiro Matsuyama
    Department of Neurology and Geriatrics, Gifu University, School of Medicine, Tsukasa machi, Gifu 500 8705, Japan
    J Neurol Sci 210:91-3. 2003
    ..This mutation is estimated to cause early stop of the gene transcription, producing a truncated protein. This is the first report of episodic ataxia type 2 of which the mutation was identified in a Japanese family...
  43. ncbi request reprint Mutations in the holocarboxylase synthetase gene HLCS
    Yoichi Suzuki
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Hum Mutat 26:285-90. 2005
    ..Patients who have mutant HLCS with higher residual activity develop symptom after the neonatal period and show a good clinical response to biotin therapy...
  44. ncbi request reprint Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion
    Shuji Kayano
    Department of Medical Genetics, Tohoku University School of Medicine, Seiryomachi, Aoba ku, Sendai 980 8574, Japan
    J Hum Genet 48:622-8. 2003
    ..Our simple methods to identify deletions and to determine the boundaries of a deletion would facilitate the identification of such patients...
  45. ncbi request reprint Lack of evidence for a significant association between nonsyndromic cleft lip with or without cleft palate and the retinoic acid receptor alpha gene in the Japanese population
    Kiyoshi Kanno
    Department of Plastic Surgery, Tohoku University School of Medicine, Sendai, Japan
    J Hum Genet 47:269-74. 2002
    ..No association between this polymorphism and NSCLP was observed. Our findings suggest that the RARA gene variations do not contribute to the development of NSCLP in the Japanese population...
  46. ncbi request reprint Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia
    Xue Yang
    Department of Medical Genetics, Tohoku University School of Medicine, 1 1 Seiryo machi, Aoba ku, Sendai 980 8574, Japan
    Mol Genet Metab 81:335-42. 2004
    ..7, and 13.3%, respectively. In conclusion, a limited number of mutations are predominant in both PCCA and PCCB genes among Japanese patients with propionic acidemia...
  47. ncbi request reprint Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R
    Kanako Kojima
    Department of Medical Genetics, Tohoku University School of Medicine, 1 1 Seiryo machi, Aoba ku, Sendai 980 8574, Japan
    Mol Genet Metab 81:343-6. 2004
    ..The genetic tests using the simple TaqMan method coupled with sequencing analysis would facilitate the early diagnosis of this disorder...
  48. ncbi request reprint Leukemia in Cardio-facio-cutaneous (CFC) syndrome: a patient with a germline mutation in BRAF proto-oncogene
    Yoshio Makita
    Department of Pediatrics, Asahikawa Medical College, Asahikawa, Japan
    J Pediatr Hematol Oncol 29:287-90. 2007
    ..Molecular diagnosis and careful observations should be considered in children with CFC syndrome because they have germline mutations in proto-oncogenes and might develop malignancy...
  49. pmc Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome
    Caroline Nava
    Department of Genetics, AP HP, Hopital Robert Debre, Paris, France
    J Med Genet 44:763-71. 2007
    ..Although some associated features appear to be characteristic of a specific gene, no simple rule exists to distinguish NS from CFC easily...
  50. doi request reprint Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007
    Katherine A Rauen
    Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, California, USA
    Am J Med Genet A 146:1205-17. 2008
  51. ncbi request reprint Significant association between nonsyndromic oral clefts and arylhydrocarbon receptor nuclear translocator (ARNT)
    Shuji Kayano
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Am J Med Genet A 130:40-4. 2004
    ..021). The SNPs studied in AHR and CYP1A1 were not associated with the disease. Our results suggest that ARNT is involved in the development of nonsyndromic oral clefts in the Japanese population...
  52. ncbi request reprint Association of the GABRB3 gene with nonsyndromic oral clefts
    Hiroki Inoue
    Department of Public Health, Chiba University Graduate School of Medicine, Chiba, Japan
    Cleft Palate Craniofac J 45:261-6. 2008
    ..The GABRB3 gene is therefore a strong candidate gene for nonsyndromic oral clefts. We investigated here whether genetic variations of the GABRB3 gene affect the risk for nonsyndromic oral clefts...
  53. ncbi request reprint Increase in plasma levels of adiponectin after administration of anti-tumor necrosis factor agents in patients with rheumatoid arthritis
    Takao Nagashima
    J Rheumatol 35:936-8. 2008
  54. ncbi request reprint Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation
    Xue Yang
    Department of Medical Genetics, Tohoku University School of Medicine, Japan
    Mol Genet Metab 82:329-33. 2004
    ..This finding may facilitate the DNA diagnosis of vitamin B(12)-responsive MMA within the Japanese population...
  55. ncbi request reprint Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis
    Junko Kanno
    Department of Medical Genetics, Tohoku University School of Medicine, 1 1 Seiryomachi, Aobaku, Sendai 980 8574, Japan
    Mol Genet Metab 91:384-9. 2007
    ..These results suggest allelic and non-allelic heterogeneities of PDS, and that the CSF glutamate elevation does not directly correlate with the presence of ALDH7A1 mutations...
  56. ncbi request reprint HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, DE 19899, USA
    Am J Med Genet A 140:1-7. 2006
    ..Five different HRAS mutations have now been reported in Costello syndrome, however genotype-phenotype correlation remains incomplete...