Y Indo

Summary

Affiliation: Kumamoto University
Country: Japan

Publications

  1. ncbi Genetics of congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV. Clinical, biological and molecular aspects of mutations in TRKA(NTRK1) gene encoding the receptor tyrosine kinase for nerve growth
    Yasuhiro Indo
    Department of Pediatrics, Kumamoto University School of Medicine, Japan
    Clin Auton Res 12:I20-32. 2002
  2. ncbi Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): mutations and polymorphisms in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor
    Y Indo
    Department of Pediatrics, Kumamoto University School of Medicine, Kumamoto, Japan
    Hum Mutat 18:462-71. 2001
  3. ncbi Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency
    Y Indo
    Department of Pediatrics, Kumamoto University School of Medicine, Kumamoto, Japan
    Hum Mutat 18:308-18. 2001
  4. ncbi Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families
    Y Miura
    Department of Pediatrics, Kumamoto University School of Medicine, Japan
    Hum Genet 106:116-24. 2000
  5. pmc Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor
    S Mardy
    Department of Pediatrics, Kumamoto University School of Medicine, Kumamoto, Japan
    Am J Hum Genet 64:1570-9. 1999
  6. ncbi Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor
    S Mardy
    Department of Pediatrics, Kumamoto University School of Medicine, Honjo 1 1 1, Kumamoto 860 8556, Japan
    Hum Mol Genet 10:179-88. 2001
  7. ncbi Structure and organization of the human TRKA gene encoding a high affinity receptor for nerve growth factor
    Y Indo
    Department of Pediatrics, Kumamoto University School of Medicine, Japan
    Jpn J Hum Genet 42:343-51. 1997
  8. ncbi Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex
    M Tsuruta
    Department of Pediatrics, Kumamoto University School of Medicine, Japan
    J Hum Genet 43:91-100. 1998
  9. ncbi Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis
    Y Miura
    Department of Pediatrics, Kumamoto University School of Medicine, Japan
    Hum Genet 107:205-9. 2000
  10. ncbi Human ESP1/CRP2, a member of the LIM domain protein family: characterization of the cDNA and assignment of the gene locus to chromosome 14q32.3
    M A Karim
    Department of Pediatrics, Kumamoto University School of Medicine, Japan
    Genomics 31:167-76. 1996

Collaborators

  • Y Miura
  • K Ohta
  • O Numata
  • A Macaya
  • W Gibson
  • H Ino
  • F Endo
  • D L Brown
  • Gen Kobashi
  • S Mardy
  • I Matsuda
  • Makoto Hiura
  • Ennio Toscano
  • T Kawano
  • M Tsuruta
  • H Mitsubuchi
  • Satoshi Yazaki
  • M A Karim
  • Satoshi Hasegawa
  • Katsumi Torigoe
  • Atsushi Kuwabara
  • Alessandro Simonati
  • Naoki Boku
  • Masamichi Matsunaga
  • Generoso Andria
  • G E Graham
  • E Toscano
  • L Sztriha
  • E A Ismail
  • A Moosa
  • P Frossard
  • G Andria
  • M Shimadzu
  • Y Hayashida
  • A Kinugasa
  • H Nakazato
  • T Ishitsu
  • N Niikawa
  • Y Jinno
  • M Egashira
  • Y Nobukuni
  • J Mallee
  • S Segal
  • R Heidenreich
  • J Asaka
  • A Harada
  • I Akaboshi

Detail Information

Publications19

  1. ncbi Genetics of congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV. Clinical, biological and molecular aspects of mutations in TRKA(NTRK1) gene encoding the receptor tyrosine kinase for nerve growth
    Yasuhiro Indo
    Department of Pediatrics, Kumamoto University School of Medicine, Japan
    Clin Auton Res 12:I20-32. 2002
    ..Thus, CIPA can serve as a useful model to determine mechanisms of development and maintenance of NGF-dependent neurons in autonomic, sensory and central nervous systems, as well as the physiology of these neurons in humans...
  2. ncbi Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): mutations and polymorphisms in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor
    Y Indo
    Department of Pediatrics, Kumamoto University School of Medicine, Kumamoto, Japan
    Hum Mutat 18:462-71. 2001
    ..Further, molecular pathology of CIPA would provide unique opportunities to explore critical roles of the autonomic sympathetic nervous system as well as peripheral sensory nervous system that transmit noxious stimuli in humans...
  3. ncbi Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency
    Y Indo
    Department of Pediatrics, Kumamoto University School of Medicine, Kumamoto, Japan
    Hum Mutat 18:308-18. 2001
    ..All these data further support findings that TRKA defects can cause CIPA in various ethnic groups. This will aid in diagnosis and genetic counseling of this painless but severe genetic disorder...
  4. ncbi Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families
    Y Miura
    Department of Pediatrics, Kumamoto University School of Medicine, Japan
    Hum Genet 106:116-24. 2000
    ....
  5. pmc Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor
    S Mardy
    Department of Pediatrics, Kumamoto University School of Medicine, Kumamoto, Japan
    Am J Hum Genet 64:1570-9. 1999
    ..The mutations are distributed in an extracellular domain, involved in NGF binding, as well as the intracellular signal-transduction domain. These data suggest that TRKA defects cause CIPA in various ethnic groups...
  6. ncbi Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor
    S Mardy
    Department of Pediatrics, Kumamoto University School of Medicine, Honjo 1 1 1, Kumamoto 860 8556, Japan
    Hum Mol Genet 10:179-88. 2001
    ..Our data may aid in developing a drug which targets the clinically devastating 'complex regional pain syndrome'...
  7. ncbi Structure and organization of the human TRKA gene encoding a high affinity receptor for nerve growth factor
    Y Indo
    Department of Pediatrics, Kumamoto University School of Medicine, Japan
    Jpn J Hum Genet 42:343-51. 1997
    ....
  8. ncbi Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex
    M Tsuruta
    Department of Pediatrics, Kumamoto University School of Medicine, Japan
    J Hum Genet 43:91-100. 1998
    ..Taken together, these results indicate that the molecular basis of intermittent phenotype MSUD in some patients can be due to mutations in the E2 gene, giving rise to a low but significant residual activity of the BCKDH complex...
  9. ncbi Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis
    Y Miura
    Department of Pediatrics, Kumamoto University School of Medicine, Japan
    Hum Genet 107:205-9. 2000
    ..UPD must be considered as a rare but possible cause of autosomal recessive disorders when conducting genetic testing...
  10. ncbi Human ESP1/CRP2, a member of the LIM domain protein family: characterization of the cDNA and assignment of the gene locus to chromosome 14q32.3
    M A Karim
    Department of Pediatrics, Kumamoto University School of Medicine, Japan
    Genomics 31:167-76. 1996
    ..Fluorescence in situ hybridization, using cDNA and a genome DNA fragment of the ESP1/CRP2 as probes, confirms this assignment and relegates regional localization to band 14q32.3...
  11. ncbi Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes
    T Kawano
    Department of Pediatrics, Kumamoto University School of Medicine, Honjo, Japan
    Am J Med Genet 77:348-55. 1998
    ..Western blot analysis showed absence or severe decrease in OCRL-1 protein in cell lysates derived from these patients...
  12. doi Nerve growth factor and the physiology of pain: lessons from congenital insensitivity to pain with anhidrosis
    Y Indo
    Department of Pediatrics, Kumamoto University Hospital, Chuou ku, Kumamoto, 860 8556, Japan
    Clin Genet 82:341-50. 2012
    ..The NGF-TrkA system is essential for the establishment of neural networks for interoception, homeostasis and emotional responses. These networks mediate reciprocal communication between the brain and the body in humans...
  13. ncbi Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis
    Y Indo
    Department of Pediatrics, Kumamoto University School of Medicine, Japan
    Nat Genet 13:485-8. 1996
    ..These results also implicate genes encoding other TRK and neurotrophin family members as candidates for developmental defect(s) of the nervous system...
  14. ncbi Primary structure and gene localization of human prolidase
    F Endo
    Department of Pediatrics, Kumamoto University Medical School, Japan
    J Biol Chem 264:4476-81. 1989
    ....
  15. ncbi A T-to-A substitution in the E1 alpha subunit gene of the branched-chain alpha-ketoacid dehydrogenase complex in two cell lines derived from Menonite maple syrup urine disease patients
    I Matsuda
    Department of Pediatrics, Kumamoto University Medical School, Japan
    Biochem Biophys Res Commun 172:646-51. 1990
    ..It is suggested that the Menonite MSUD is caused by the missense mutation of the E1 alpha subunit of the BCKDH complex...
  16. pmc Maple syrup urine disease caused by a partial deletion in the inner E2 core domain of the branched chain alpha-keto acid dehydrogenase complex due to aberrant splicing. A single base deletion at a 5'-splice donor site of an intron of the E2 gene disrupts
    H Mitsubuchi
    Department of Pediatrics, Kumamoto University Medical School, Japan
    J Clin Invest 87:1207-11. 1991
    ..These observations imply the biological importance of the region in the inner E2 core domain of BCKDH to maintain normal function of the activity...
  17. ncbi Gene analysis of Mennonite maple syrup urine disease kindred using primer-specified restriction map modification
    H Mitsubuchi
    Department of Pediatrics, Kumamoto University Medical School, Japan
    J Inherit Metab Dis 15:181-7. 1992
    ..We describe a new technique for rapid and easy detection of the mutant gene in this population. These family studies provide additional evidence that Mennonite MSUD is caused by a missense mutation of the E1 alpha gene of BCKDH..
  18. ncbi No mutation in the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with hereditary sensory and autonomic neuropathy type V
    Ennio Toscano
    Department of Pediatrics, Federico II University, Naples, Italy
    Ann Neurol 52:224-7. 2002
    ..These data indicate that a gene (or genes) other than TRKA is probably responsible for HSAN-V in some patients...
  19. ncbi Case of congenital indifference to pain with anhidrosis using sympathetic skin response as a useful supportive diagnostic method in the early stage of infancy
    Makoto Hiura
    Department of Pediatrics, Nagaoka Red Cross Hospital, Nagaoka City, Niigata, Japan
    Pediatr Int 44:436-9. 2002