Tamio Suzuki

Summary

Affiliation: Nagoya University
Country: Japan

Publications

  1. ncbi request reprint Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients
    Tamio Suzuki
    Department of Dermatology, Nagoya University Graduate School of Medicine, Japan
    J Invest Dermatol 120:781-3. 2003
  2. ncbi request reprint A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene
    T Suzuki
    Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai, Show ku, Nagoya 466 8550, Japan
    Br J Dermatol 152:174-5. 2005
  3. ncbi request reprint OCA4: evidence for a founder effect for the p.D157N mutation of the MATP gene in Japanese and Korean
    Katsuhiko Inagaki
    Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Pigment Cell Res 18:385-8. 2005
  4. doi request reprint Oculocutaneous albinism type 3: a Japanese girl with novel mutations in TYRP1 gene
    Makiko Yamada
    Department of Dermatology, Yamagata University School of Medicine, Yamagata, Japan
    J Dermatol Sci 64:217-22. 2011
  5. ncbi request reprint Mutation analysis of the ADAR1 gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentatio reticularis
    Noriyuki Suzuki
    Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    J Invest Dermatol 124:1186-92. 2005
  6. ncbi request reprint High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein
    Shiro Ito
    Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    J Invest Dermatol 125:715-20. 2005
  7. doi request reprint Association of melanogenesis genes with skin color variation among Japanese females
    Yuko Abe
    Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata 990 9585, Japan
    J Dermatol Sci 69:167-72. 2013
  8. ncbi request reprint Oculocutaneous albinism type 4: six novel mutations in the membrane-associated transporter protein gene and their phenotypes
    Katsuhiko Inagaki
    Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Pigment Cell Res 19:451-3. 2006
  9. ncbi request reprint Ten novel mutations of the ADAR1 gene in Japanese patients with dyschromatosis symmetrica hereditaria
    Noriyuki Suzuki
    Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    J Invest Dermatol 127:309-11. 2007
  10. pmc Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan
    Katsuhiko Inagaki
    Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Am J Hum Genet 74:466-71. 2004

Collaborators

Detail Information

Publications42

  1. ncbi request reprint Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients
    Tamio Suzuki
    Department of Dermatology, Nagoya University Graduate School of Medicine, Japan
    J Invest Dermatol 120:781-3. 2003
    ..One of them, R10W, was within the putative signal peptide at the N-terminal of the P protein. This is the first report on the frequency of OCA2 in the Japanese albino population...
  2. ncbi request reprint A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene
    T Suzuki
    Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai, Show ku, Nagoya 466 8550, Japan
    Br J Dermatol 152:174-5. 2005
  3. ncbi request reprint OCA4: evidence for a founder effect for the p.D157N mutation of the MATP gene in Japanese and Korean
    Katsuhiko Inagaki
    Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Pigment Cell Res 18:385-8. 2005
    ..D157N mutation. Furthermore, it is suspected that the p.D157N mutation might have occurred on an ancestral chromosome after the divergence of Orientals and Caucasians...
  4. doi request reprint Oculocutaneous albinism type 3: a Japanese girl with novel mutations in TYRP1 gene
    Makiko Yamada
    Department of Dermatology, Yamagata University School of Medicine, Yamagata, Japan
    J Dermatol Sci 64:217-22. 2011
    ..The clinical phenotype has been reported as mild in Caucasian OCA3 patients...
  5. ncbi request reprint Mutation analysis of the ADAR1 gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentatio reticularis
    Noriyuki Suzuki
    Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    J Invest Dermatol 124:1186-92. 2005
    ....
  6. ncbi request reprint High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein
    Shiro Ito
    Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    J Invest Dermatol 125:715-20. 2005
    ....
  7. doi request reprint Association of melanogenesis genes with skin color variation among Japanese females
    Yuko Abe
    Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata 990 9585, Japan
    J Dermatol Sci 69:167-72. 2013
    ..Although many of the detailed molecular mechanisms involved in melanin pigmentation are being revealed, little is understood about the genetic components responsible for variations in skin color within or between human populations...
  8. ncbi request reprint Oculocutaneous albinism type 4: six novel mutations in the membrane-associated transporter protein gene and their phenotypes
    Katsuhiko Inagaki
    Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Pigment Cell Res 19:451-3. 2006
    ..1318A > G) and p.G473D (c.1418G > A) were found in eight Japanese patients with various clinical phenotypes. The phenotypes of OCA4 were as various as the other types of OCA and probably depended on the mutation sites in the SLC45A2 gene...
  9. ncbi request reprint Ten novel mutations of the ADAR1 gene in Japanese patients with dyschromatosis symmetrica hereditaria
    Noriyuki Suzuki
    Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    J Invest Dermatol 127:309-11. 2007
    ..In this study, we report 10 novel mutations responsible for DSH: p.Q102fsX123, p.T369fsX374, p.S664fsX677, p.R892L, p.I913R, p.R916Q, p.P990fsX1016, p.C1081S, p.C1169F, and p.K1187X...
  10. pmc Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan
    Katsuhiko Inagaki
    Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Am J Hum Genet 74:466-71. 2004
    ..We discuss the functional melanogenic activity of each mutant allele, judging from the relationship between the phenotypes and genotypes of the patients. This is the first report on a large group of patients with OCA4...
  11. doi request reprint Six novel mutations of the ADAR1 gene in patients with dyschromatosis symmetrica hereditaria: histological observation and comparison of genotypes and clinical phenotypes
    Taisuke Kondo
    Department of Dermatology, Nagoya University Graduate School of Medicine, Showa Ku, Nagoya, Japan
    J Dermatol 35:395-406. 2008
    ..Microscopic findings suggest that the clinical appearance must have developed directly by melanocyte variations mainly induced by the ADAR1 gene mutations...
  12. ncbi request reprint A patient with subclinical oculocutaneous albinism type 2 diagnosed on getting severely sunburned
    Masahiro Kawai
    Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Dermatology 210:322-3. 2005
    ..The A481T mutant allele is relatively common in the Caucasian population as well as in Japan, indicating that a number of subclinical patients of OCA2 might exist not only in Japan, but also all over the world...
  13. doi request reprint Oculocutaneous albinism type IV: A boy of Moroccan descent with a novel mutation in SLC45A2
    Takayuki Konno
    Department of Dermatology, Yamagata University School of Medicine, Japan
    Am J Med Genet A 149:1773-6. 2009
    ..This is the second report of the occurrence of OCA4 in a member of an African ethnic group...
  14. doi request reprint Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4
    Tamio Suzuki
    Department of Dermatology, Yamagata University School of Medicine, 2 2 2 Iida nishi, Yamagata 990 9585, Japan
    J Dermatol Sci 51:1-9. 2008
    ..And OCA4 is one of the most common types in Japanese patients, despite being rare worldwide...
  15. doi request reprint Dyschromatosis symmetrica hereditaria associated with neurological disorders
    Taisuke Kondo
    Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    J Dermatol 35:662-6. 2008
    ..Therefore, we suggest that neurological disorders rarely develop in DSH...
  16. ncbi request reprint Establishment of tyrosinase sequence database in normally pigmented Indians and Japanese for rapid determination of novel mutations
    Yoshinori Miyamura
    Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    J Dermatol Sci 39:167-73. 2005
    ..For rapid determination in future whether an observed mutation is a polymorphism or a novel pathological one, sequence databases of the gene of various ethnic people are needed...
  17. doi request reprint Generalized vitiligo and associated autoimmune diseases in Japanese patients and their families
    Tomohiko Narita
    Department of Dermatology, Kinki University Faculty of Medicine, Osaka, Japan
    Allergol Int 60:505-8. 2011
    ....
  18. doi request reprint Lipocalin-type prostaglandin D synthase as a marker for the proliferative potential of melanocyte-lineage cells in the human skin
    Miwa Shimanuki
    Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, Japan
    J Dermatol 39:699-704. 2012
    ..In conclusion, L-PGDS expression may contribute to the restricted proliferation of epidermal melanocytes, but conversely its overexpression may reflect the dysregulated proliferation of melanoma cells...
  19. ncbi request reprint Ultrastructural features of trafficking defects are pronounced in melanocytic nevus in Hermansky-Pudlak syndrome type 1
    Ken Natsuga
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    J Invest Dermatol 125:154-8. 2005
    ..Thus, ultrastructural analysis of nevus cells may be an additional diagnostic tool for HPS1 and could give us important clues to further understanding of the pathomechanisms of HPS...
  20. ncbi request reprint Characterization of the human RAB38 and RAB7 genes: exclusion of new major pathological loci for Japanese OCA
    Tamio Suzuki
    Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa Ku, 466 8550, Nagoya, Japan
    J Dermatol Sci 32:131-6. 2003
    ..Recently two genes, RAB38 and RAB7, were reported to play an important role in melanogenesis in the melanocyte, suggesting that these two genes could be good candidates for new OCA loci...
  21. ncbi request reprint Evaluation of cetirizine hydrochloride-based therapeutic strategy for chronic urticaria
    Kazumitsu Sugiura
    Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya 466 8550, Japan
    Nagoya J Med Sci 70:97-106. 2008
    ..For patients in whom cetirizine fails to satisfactorily alleviate symptoms as well as those who complain of drowsiness, switching to other antihistamine drugs may be an effective strategy...
  22. doi request reprint Piebaldism
    Naoki Oiso
    Department of Dermatology, Kinki University Faculty of Medicine, Osakasayama, Japan
    J Dermatol 40:330-5. 2013
    ..We summarize current research progress in piebaldism and related disorders...
  23. doi request reprint Pediatric case report: clinical profile of a patient with PCWH with p.Q377X nonsense mutation in the SOX10 gene
    Tomoko Oshimo
    Department of Dermatology, Osaka City University Graduate School of Medicine, Osaka, Japan
    J Dermatol 39:1022-5. 2012
    ..The five patients who had the white forelock had PCWH with severe neurological complications. Paradoxically, two cases had hyperpigmented spots. Heterochromia of the iris was reported in four patients...
  24. doi request reprint Nephrogenic systemic fibrosis: a case report and review on Japanese patients
    Yuka Matsumoto
    Department of Dermatology, Tokyo Medical University, Japan
    J Dermatol 39:449-53. 2012
    ....
  25. pmc Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria
    Yoshinori Miyamura
    Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Am J Hum Genet 73:693-9. 2003
    ..3. The mutations involved in causing DSH have been identified in the gene that encodes double-stranded RNA-specific adenosine deaminase (DSRAD) as the disease gene...
  26. doi request reprint Agminated pigmented matricoma: a case of a unique tumor with a multifocal appearance composed of neoplastic matrical cells with a significant component of melanocyte
    Mariko Nikaido
    Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, Japan
    J Cutan Pathol 40:823-8. 2013
    ..Pigmentation is a rare event in benign and malignant adnexal tumors, and to our knowledge, no similar case has been reported. ..
  27. doi request reprint Guidelines for the diagnosis and treatment of vitiligo in Japan
    Naoki Oiso
    Department of Dermatology, Kinki University Faculty of Medicine, Osaka Sayama, Japan
    J Dermatol 40:344-54. 2013
    ..The therapeutic algorithm based on the proposed recommendation is designed to cure and improve the affected lesions and quality of life of individuals with vitiligo...
  28. ncbi request reprint Genetics of pigmentary disorders
    Yasushi Tomita
    Department of Dermatology, Nagoya University Graduate School of Medicine, Showa Ku, Japan
    Am J Med Genet C Semin Med Genet 131:75-81. 2004
    ..4) Disorders of mature melanosome transfer to the tips of the dendrites Griscelli syndrome 1-3 (GS1-3). These disorders are presented and their gene mutations and pathogenesis are discussed...
  29. doi request reprint Dyschromatosis symmetrica hereditaria
    Masahiro Hayashi
    Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, Japan
    J Dermatol 40:336-43. 2013
    ....
  30. pmc Nonsegmental vitiligo and autoimmune mechanism
    Naoki Oiso
    Department of Dermatology, Kinki University Faculty of Medicine, 377 2 Ohno Higashi, Osaka Sayama, Osaka 589 8511, Japan
    Dermatol Res Pract 2011:518090. 2011
    ..This indicates the presence of genetically determined susceptibility to not only vitiligo but also to other autoimmune disorders. Here, we summarize current understanding of autoimmune pathogenesis in non-segmental vitiligo...
  31. doi request reprint Dystrophic epidermolysis bullosa pruriginosa of elderly onset
    Masahiro Hayashi
    Department of Dermatology, Yamagata University School of Medicine, Yamagata, Japan
    J Dermatol 38:173-8. 2011
    ..Why the onset of skin fragility should have occurred so late is not known, but the case serves as a reminder that this particular mechanobullous disease can have a delayed presentation...
  32. ncbi request reprint Multiple pigmented basal cell carcinomas arising in the normal-appearing skin after radiotherapy for carcinoma of the cervix
    Yoshihiro Handa
    Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsuruma cho, Showa Ku, Nagoya 466 8550, Japan
    Dermatol Surg 29:1233-5. 2003
    ..BCCs occurring after radiotherapy for carcinoma of the cervix are extremely rare...
  33. ncbi request reprint High frequency of the Ala481Thr mutation of the P gene in the Japanese population
    Tamio Suzuki
    Am J Med Genet A 118:402-3. 2003
  34. ncbi request reprint Dystonia, mental deterioration, and dyschromatosis symmetrica hereditaria in a family with ADAR1 mutation
    Kana Tojo
    Department of Neurology, Shinshu University School of Medicine, Matsumoto, Japan
    Mov Disord 21:1510-3. 2006
    ..Further investigation of ADAR1 mutations will shed light on the genotype-phenotype correlation in DSH...
  35. pmc The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation
    Tamio Suzuki
    Human Medical Genetics Program, University of Colorado Health Sciences Center, Denver, CO 80262, USA
    Proc Natl Acad Sci U S A 100:1146-50. 2003
    ..VPS33A thus is a good candidate gene for a previously uncharacterized form of human HPS...
  36. ncbi request reprint Two novel mutations detected in Japanese patients with oculocutaneous albinism
    Shiro Ito
    J Dermatol Sci 44:116-8. 2006
  37. ncbi request reprint Expression and characterization of Rab38, a new member of the Rab small G protein family
    Kazuhiro Osanai
    Department of Respiratory Medicine, Kanazawa Medical University, 1 1 Daigaku Uchinada, Kahokugun, Ishikawa 920 0293, Japan
    Biol Chem 386:143-53. 2005
    ....
  38. ncbi request reprint Analysis of KIT, SCF, and initial screening of SLUG in patients with piebaldism
    Tomoko Murakami
    J Invest Dermatol 124:670-2. 2005
  39. pmc The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking
    Qing Zhang
    Department of Molecular and Cellular Biology, Roswell Park Cancer Institute, Buffalo, NY 14263, USA
    Hum Mol Genet 11:697-706. 2002
    ..Therefore, the mu gene is a member of the novel gene set that has evolved in higher eukaryotes to regulate the synthesis/function of highly specialized subcellular organelles such as melanosomes and platelet dense granules...
  40. ncbi request reprint The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles
    Pei Wen Chiang
    Human Medical Genetics Program, University of Colorado Health Sciences Center, Denver 80262, USA
    J Biol Chem 278:20332-7. 2003
    ..In the cytosol, HPS1 (but not HPS4) is part of yet another complex, termed BLOC-5. We propose that the BLOC-3 and BLOC-4 HPS1.HPS4 complexes play a central role in trafficking cargo proteins to newly formed cytoplasmic organelles...
  41. ncbi request reprint Investigation on the IVS5 +5G --> a splice site mutation of HPS1 gene found in Japanese patients with Hermansky-Pudlak syndrome
    Tamio Suzuki
    J Dermatol Sci 36:106-8. 2004
  42. ncbi request reprint Five novel mutations in tyrosinase gene of Japanese and Indian patients with oculocutaneous albinism type I (OCA1)
    Yoshinori Miyamura
    J Invest Dermatol 125:397-8. 2005