Akira Hishinuma

Summary

Affiliation: Dokkyo University School of Medicine
Country: Japan

Publications

  1. ncbi request reprint A novel missense mutation (G2320R) in thyroglobulin causes hypothyroidism in rdw rats
    A Hishinuma
    Department of Clinical Laboratory Medicine, Dokkyo University School of Medicine, Mibu, Tochigi, Japan
    Endocrinology 141:4050-5. 2000
  2. ncbi request reprint Polymorphism of the polyalanine tract of thyroid transcription factor-2 gene in patients with thyroid dysgenesis
    A Hishinuma
    Department of Clinical Laboratory Medicine, Dokkyo University School of Medicine, Mibu, Tochigi 321 0293, Japan
    Eur J Endocrinol 145:385-9. 2001
  3. ncbi request reprint Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan
    Akira Hishinuma
    Department of Clinical Laboratory Medicine, Dokkyo University School of Medicine, Mibu, Tochigi 321 0293, Japan
    J Clin Endocrinol Metab 91:3100-4. 2006
  4. ncbi request reprint TTF-2 stimulates expression of 17 genes, including one novel thyroid-specific gene which might be involved in thyroid development
    Akira Hishinuma
    Department of Clinical Laboratory Medicine, Dokkyo University School of Medicine, Kitakobayashi 880, Mibu, Tochigi 321 0293, Japan
    Mol Cell Endocrinol 221:33-46. 2004
  5. ncbi request reprint High incidence of thyroid cancer in long-standing goiters with thyroglobulin mutations
    Akira Hishinuma
    Department of Clinical Laboratory Medicine, Dokkyo University School of Medicine, Mibu, Tochigi, Japan
    Thyroid 15:1079-84. 2005
  6. ncbi request reprint [Thyroglobulin gene abnormalities]
    Akira Hishinuma
    Department of Clinical Laboratory Medicine, Dokkyo University School of Medicine, Mibu, Tochigi 321 0293
    Rinsho Byori 53:935-41. 2005
  7. ncbi request reprint [Iodide organification defect]
    Akira Hishinuma
    Department of Clinical Laboratory Medicine, Dokkyo University School of Medicine
    Nihon Rinsho . 2006
  8. ncbi request reprint [Thyroglobulin gene abnormalities]
    Akira Hishinuma
    Department of Clinical Laboratory Medicine, Dokkyo University School of Medicine
    Nihon Rinsho 63:31-5. 2005
  9. ncbi request reprint A novel thyrotropin receptor germline mutation (Asp617Tyr) causing hereditary hyperthyroidism
    Eijun Nishihara
    Kuma Hospital, Kobe, Japan
    Endocr J 54:927-34. 2007
  10. ncbi request reprint Endemic goiter due to thyroglobulin gene abnormality and social ostracism
    Shuji Fukata
    Endocr J 54:485-6. 2007

Collaborators

Detail Information

Publications17

  1. ncbi request reprint A novel missense mutation (G2320R) in thyroglobulin causes hypothyroidism in rdw rats
    A Hishinuma
    Department of Clinical Laboratory Medicine, Dokkyo University School of Medicine, Mibu, Tochigi, Japan
    Endocrinology 141:4050-5. 2000
    ..Altered folding of Tg might account for the impaired intracellular transport of Tg and activated premature degradation by the same mechanism as in ER storage diseases...
  2. ncbi request reprint Polymorphism of the polyalanine tract of thyroid transcription factor-2 gene in patients with thyroid dysgenesis
    A Hishinuma
    Department of Clinical Laboratory Medicine, Dokkyo University School of Medicine, Mibu, Tochigi 321 0293, Japan
    Eur J Endocrinol 145:385-9. 2001
    ..We performed genetic analysis of the TITF2 gene (encoding TTF-2) in patients with thyroid dysgenesis...
  3. ncbi request reprint Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan
    Akira Hishinuma
    Department of Clinical Laboratory Medicine, Dokkyo University School of Medicine, Mibu, Tochigi 321 0293, Japan
    J Clin Endocrinol Metab 91:3100-4. 2006
    ..However, an increasing number of patients with Tg mutations, who are euthyroid to mildly hypothyroid, have been identified in Japan...
  4. ncbi request reprint TTF-2 stimulates expression of 17 genes, including one novel thyroid-specific gene which might be involved in thyroid development
    Akira Hishinuma
    Department of Clinical Laboratory Medicine, Dokkyo University School of Medicine, Kitakobayashi 880, Mibu, Tochigi 321 0293, Japan
    Mol Cell Endocrinol 221:33-46. 2004
    ..Our results have important implications for understanding normal thyroid development as well as the molecular defects underlying thyroid dysgenesis...
  5. ncbi request reprint High incidence of thyroid cancer in long-standing goiters with thyroglobulin mutations
    Akira Hishinuma
    Department of Clinical Laboratory Medicine, Dokkyo University School of Medicine, Mibu, Tochigi, Japan
    Thyroid 15:1079-84. 2005
    ..From these observations, we conclude that goiter resulting from thyroglobulin mutations is associated with thyroid cancer...
  6. ncbi request reprint [Thyroglobulin gene abnormalities]
    Akira Hishinuma
    Department of Clinical Laboratory Medicine, Dokkyo University School of Medicine, Mibu, Tochigi 321 0293
    Rinsho Byori 53:935-41. 2005
    ..Surgical treatments were inevitable, and 40% of the removed thyroids contained thyroid cancers, some of which were caused by activating mutations of the BRAF gene...
  7. ncbi request reprint [Iodide organification defect]
    Akira Hishinuma
    Department of Clinical Laboratory Medicine, Dokkyo University School of Medicine
    Nihon Rinsho . 2006
  8. ncbi request reprint [Thyroglobulin gene abnormalities]
    Akira Hishinuma
    Department of Clinical Laboratory Medicine, Dokkyo University School of Medicine
    Nihon Rinsho 63:31-5. 2005
  9. ncbi request reprint A novel thyrotropin receptor germline mutation (Asp617Tyr) causing hereditary hyperthyroidism
    Eijun Nishihara
    Kuma Hospital, Kobe, Japan
    Endocr J 54:927-34. 2007
    ..Treatment with inorganic iodine for 7 months successfully relieved all symptoms of hyperthyroidism in both patients...
  10. ncbi request reprint Endemic goiter due to thyroglobulin gene abnormality and social ostracism
    Shuji Fukata
    Endocr J 54:485-6. 2007
  11. ncbi request reprint Subclinical hypothyroidism caused by a mutation of the thyrotropin receptor gene
    Keiko Shibayama
    Department of Pediatrics, Kitasato University School of Medicine, Kanagawa 228 8555, Japan
    Pediatr Int 47:105-8. 2005
  12. ncbi request reprint Partial iodide organification defect caused by a novel mutation of the thyroid peroxidase gene in three siblings
    Tomio Kotani
    Department of Laboratory Medicine, Laboratory for Clinical Investigation, Miyazaki Medical College, Kiyotake, Japan
    Clin Endocrinol (Oxf) 59:198-206. 2003
    ....
  13. ncbi request reprint A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels
    Sachiko Kitanaka
    Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan
    J Hum Genet 51:379-82. 2006
    ..In cases of congenital goitrous hypothyroidism with normal-to-high triiodothyronine levels and low serum thyroglobulin levels, thyroglobulin abnormality should be considered...
  14. ncbi request reprint Transient hypothyroidism or persistent hyperthyrotropinemia in neonates born to mothers with excessive iodine intake
    Soroku Nishiyama
    Department of Pediatrics, Kumamoto University School of Medicine, Kumamoto, Japan
    Thyroid 14:1077-83. 2004
    ..We propose that hyperthyrotropinemia related to excessive iodine ingestion by the mother during pregnancy in some cases may not be transient...
  15. ncbi request reprint [Thyroglobulin gene abnormalities]
    Shuji Fukata
    Division of Internal Medicine, Kuma Hospital
    Nihon Rinsho . 2006
  16. ncbi request reprint Thyroglobulin gene mutations producing defective intracellular transport of thyroglobulin are associated with increased thyroidal type 2 iodothyronine deiodinase activity
    Yasuhiko Kanou
    Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Furo cho, Chikusa ku, Nagoya 464 8601, Japan
    J Clin Endocrinol Metab 92:1451-7. 2007
    ..The mechanism of this change in FT3/FT4 ratio remains unknown...
  17. doi request reprint A novel homozygous missense mutation of the dual oxidase 2 (DUOX2) gene in an adult patient with large goiter
    Hidemi Ohye
    Department of Internal Medicine, Kuma Hospital, 8 2 35 Shimoyamate dori, Chuo Ku, Kobe, Japan
    Thyroid 18:561-6. 2008
    ..At the age of 56 years, goiter size remained the same. The perchlorate discharge rate was 72.8%, suggesting partial iodine organification defect. Thus, thyroid peroxidase (TPO) gene and DUOX2 gene were analyzed...