S Kure

Summary

Affiliation: Tohoku University
Country: Japan

Publications

  1. ncbi request reprint Prenatal diagnosis of non-ketotic hyperglycinaemia: enzymatic diagnosis in 28 families and DNA diagnosis detecting prevalent Finnish and Israeli-Arab mutations
    S Kure
    Department of Medical Genetics, Tohoku University School of Medicine, Aobaku, Sendai, Japan
    Prenat Diagn 19:717-20. 1999
  2. ncbi request reprint A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia
    S Kure
    Department of Biochemical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Hum Genet 102:430-4. 1998
  3. ncbi request reprint Mutation and polymorphic marker analyses of 65K- and 67K-glutamate decarboxylase genes in two families with pyridoxine-dependent epilepsy
    S Kure
    Department of Biochemical Genetics, Tohoku University School of Medicine, Sendai, Japan
    J Hum Genet 43:128-31. 1998
  4. ncbi request reprint Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia
    S Kure
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    J Hum Genet 46:378-84. 2001
  5. ncbi request reprint A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia
    S Kure
    Department of Biochemical Genetics, Tohoku University School of Medicine, Sendai, Japan
    J Hum Genet 43:135-7. 1998
  6. ncbi request reprint 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 11
    S 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
  7. ncbi request reprint Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia
    Shigeo Kure
    Department of Medical Genetics, Tohoku University School of Medicine, 1 1 Seiryomachi, Aobaku, Sendai 980 8574, Japan
    Ann Neurol 52:643-6. 2002
  8. ncbi request reprint Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (psiGLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia
    M Takayanagi
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Hum Genet 106:298-305. 2000
  9. ncbi request reprint Dinucleotide repeat polymorphism in 65k-glutamate decarboxylase gene
    S Kure
    Department of Biochemical Genetics, Tohoku University School of Medicine, Seiryo machi, Aoba ku, Sendai 980 77, Japan
    Jpn J Hum Genet 42:429-31. 1997
  10. ncbi request reprint Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells
    J Akanuma
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Am J Med Genet 91:107-12. 2000

Collaborators

Detail Information

Publications34

  1. ncbi request reprint Prenatal diagnosis of non-ketotic hyperglycinaemia: enzymatic diagnosis in 28 families and DNA diagnosis detecting prevalent Finnish and Israeli-Arab mutations
    S Kure
    Department of Medical Genetics, Tohoku University School of Medicine, Aobaku, Sendai, Japan
    Prenat Diagn 19:717-20. 1999
    ..GCS activity in samples from a Finnish family demonstrated a good agreement with DNA analysis, but the fetus of the Israeli-Arab family had an upper limit activity of the affected range, suggesting an advantages for DNA analysis...
  2. ncbi request reprint A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia
    S Kure
    Department of Biochemical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Hum Genet 102:430-4. 1998
    ..The availability of DNA testing facilitates the prenatal diagnosis of NKH and the identification of carriers, which is necessary for genetic counseling in the affected families...
  3. ncbi request reprint Mutation and polymorphic marker analyses of 65K- and 67K-glutamate decarboxylase genes in two families with pyridoxine-dependent epilepsy
    S Kure
    Department of Biochemical Genetics, Tohoku University School of Medicine, Sendai, Japan
    J Hum Genet 43:128-31. 1998
    ..Thus, an etiological mechanism other than a K(m) mutant GAD is responsible for pyridoxine-dependent epilepsy...
  4. ncbi request reprint Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia
    S Kure
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    J Hum Genet 46:378-84. 2001
    ..In contrast, the P-protein gene was expressed in a limited number of tissues, such as liver, kidney, brain, pituitary gland, and thyroid gland, suggesting distinct transcriptional regulation of each GCS constituent...
  5. ncbi request reprint A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia
    S Kure
    Department of Biochemical Genetics, Tohoku University School of Medicine, Sendai, Japan
    J Hum Genet 43:135-7. 1998
    ..Familial analysis revealed that the 183delC and the D276H mutations were inherited from the father and the mother, respectively. This is the first report of T-protein gene mutation in Oriental patients with nonketotic hyperglycinemia...
  6. ncbi request reprint 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 11
    S 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...
  7. ncbi request reprint Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia
    Shigeo Kure
    Department of Medical Genetics, Tohoku University School of Medicine, 1 1 Seiryomachi, Aobaku, Sendai 980 8574, Japan
    Ann Neurol 52:643-6. 2002
    ..Heterozygous mutations were identified in all of the three patients, suggesting that transient neonatal hyperglycinemia develops in some heterozygous carriers for nonketotic hyperglycinemia...
  8. ncbi request reprint Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (psiGLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia
    M Takayanagi
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Hum Genet 106:298-305. 2000
    ..Structural information of GLDC and psiGLDC should facilitate the molecular analysis of NKH...
  9. ncbi request reprint Dinucleotide repeat polymorphism in 65k-glutamate decarboxylase gene
    S Kure
    Department of Biochemical Genetics, Tohoku University School of Medicine, Seiryo machi, Aoba ku, Sendai 980 77, Japan
    Jpn J Hum Genet 42:429-31. 1997
  10. ncbi request reprint Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells
    J Akanuma
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Am J Med Genet 91:107-12. 2000
    ..The noninvasive molecular diagnosis for GSD-Ia may ultimately replace the conventional means of enzymatic diagnosis that requires liver biopsy...
  11. ncbi request reprint Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene
    D C Hou
    Department of Medical Genetics, Tohoku University of School of Medicine, Sendai, Japan
    Am J Med Genet 86:253-7. 1999
    ..The genomic sequence data and mutation spectrum obtained from the Japanese patients will facilitate genetic diagnosis of glycogen storage disease type Ib...
  12. ncbi request reprint Structure and expression of the glycine cleavage system in rat central nervous system
    Y Sakata
    Department of Medical Genetics, Tohoku University School of Medicine, 1 1 Seiryo machi, 980 8574, Sendai, Japan
    Brain Res Mol Brain Res 94:119-30. 2001
    ..Our results suggest that the GCS plays a major role in the forebrain and cerebellum rather than in the spinal cord, and that N-methyl-D-aspartate receptor may participate in neuropathogenesis of NKH...
  13. ncbi request reprint GJB2 (connexin 26) mutations and childhood deafness in Thailand
    T Kudo
    Department of Otorhinolaryngology-Head and Neck Surgery, Tohoku University School of Medicine, 1-1 Seiryomachi, Aobaku, Sendai 980-8574, Japan
    Otol Neurotol 22:858-61. 2001
    ..Patient 3A and 3B (in 1 family) were heterozygotes of a novel mutation M34L (100A --> T). CONCLUSION: The 235delC mutation may be widely distributed in Asian countries outside of Japan...
  14. ncbi request reprint Assignment of Gldc encoding glycine decarboxylase to mouse chromosome 19C by in situ hybridization and a CA repeat polymorphism in the Gldc gene
    T Shinka
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Cytogenet Cell Genet 83:260-1. 1998
  15. ncbi request reprint Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes
    K Wataya
    Department of Biochemical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Hum Mutat 11:377-86. 1998
    ..In all three families with CPT II deficiency, the E174K mutation resided only on the F1V1M1 allele, whereas the F383Y mutation was observed on the F2V2M1 allele, suggesting a single origin for each mutation...
  16. ncbi request reprint Glycogen storage disease type Ib without neutropenia
    S Kure
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    J Pediatr 137:253-6. 2000
    ....
  17. ncbi request reprint Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency
    X Yang
    Department of Medical Genetics, Tohoku University School of Medicine, 1 1 Seiryo machi, Aoba ku, Sendai 980 8574, Japan
    Hum Genet 109:526-34. 2001
    ....
  18. pmc Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia
    S Kure
    Department of Biochemical Genetics, Tohoku University School of Medicine, Sendai, Japan
    J Clin Invest 90:160-4. 1992
    ..The results suggest that this mutation is responsible for the high incidence of NKH in Finland...
  19. ncbi request reprint Rapid detection of CYP2C18 genotypes by real-time fluorescence polymerase chain reaction
    M Mizugaki
    Department of Pharmaceutical Sciences, Tohoku University Hospital, Sendai, Japan
    J Pharm Pharmacol 52:199-205. 2000
    ..This assay allows the fast and reliable detection of inherited disorders that might influence diagnosis and treatment...
  20. ncbi request reprint Structural and expression analyses of normal and mutant mRNA encoding glycine decarboxylase: three-base deletion in mRNA causes nonketotic hyperglycinemia
    S Kure
    Department of Biochemical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Biochem Biophys Res Commun 174:1176-82. 1991
    ..9 +/- 0.41 nmole/milligram of protein/hour, which was almost equivalent to that of human liver. In contrast, Cos7 cells in which the mutant cDNA was expressed showed no activity, indicating that the three-base deletion could cause NKH...
  21. ncbi request reprint Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients
    H Ikeda
    Department of Biochemical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Hum Genet 100:637-42. 1997
    ..The nucleotide change generated a sequence similar to an RNA splice donor site and probably activated an upstream cryptic acceptor site, thus producing an abnormal extra exon...
  22. ncbi request reprint Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population
    T Kudo
    Department of Otorhinolaryngology, Tohoku University School of Medicine, Sendai, Japan
    Am J Med Genet 90:141-5. 2000
    ..All 235delC mutant alleles identified in four patients resided only on haplotype type 1. These findings indicate that GJB2 mutations are also responsible for prelingual deafness in Japan...
  23. ncbi request reprint A novel mutation in glial fibrillary acidic protein gene in a patient with Alexander disease
    Y Aoki
    Department of Medical Genetics, Tohoku University School of Medicine, 1 1 Seiryo machi, Sendai 980 8574, Japan
    Neurosci Lett 312:71-4. 2001
    ..These results provide further support for a causative role for GFAP mutations in Alexander disease, and suggest DNA sequencing as an alternative diagnostic to biopsy...
  24. ncbi request reprint Association of the hCLCA1 gene with childhood and adult asthma
    F Kamada
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Genes Immun 5:540-7. 2004
    ..0011). Individuals who had the TGCCAAGT haplotype showed a lower risk for childhood asthma than those who did not (P<0.0001). Our data suggested that variation of the hCLCA1 gene affects patients' susceptibility for asthma...
  25. ncbi request reprint Complete suppression of insulitis and diabetes in NOD mice lacking interferon regulatory factor-1
    T Nakazawa
    Division of Molecular Metabolism and Diabetes, Department of Internal Medicine, Tohoku University School of Medicine, Sendai, Japan
    J Autoimmun 17:119-25. 2001
    ..These results indicate that IRF-1 plays a key role in developing insulitis and diabetes in NOD mice...
  26. ncbi request reprint Association of a mutation in thiazide-sensitive Na-Cl cotransporter with familial Gitelman's syndrome
    K Takeuchi
    Second Department of Internal Medicine, Tohoku University School of Medicine, Sendai, Japan
    J Clin Endocrinol Metab 81:4496-9. 1996
    ....
  27. ncbi request reprint Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation
    H Flusser
    Zusman Child Development Center, Pediatric Division, Soroka University Medical Center and Ben Gurion University of the Negev, Beer Sheva, Israel
    Neurology 64:1426-30. 2005
    ..Classic neonatal-onset glycine encephalopathy (GE) is devastating and life threatening. Milder, later onset variants have been reported but were usually sporadic and incompletely defined...
  28. ncbi request reprint Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults
    A Dinopoulos
    Division of Neurology, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229 3039, USA
    Neurology 64:1255-7. 2005
    ..Both mutations had a 6 to 8% of normal GLDC activities when expressed in COS7 cells...
  29. ncbi request reprint The glycine cleavage system. Molecular cloning of the chicken and human glycine decarboxylase cDNAs and some characteristics involved in the deduced protein structures
    A Kume
    Department of Biochemistry, Toyama Medical and Pharmaceutical University School of Medicine, Japan
    J Biol Chem 266:3323-9. 1991
    ..It is suggested that these structures are involved in the organization of the active site of glycine decarboxylase...
  30. ncbi request reprint One of the two genomic copies of the glycine decarboxylase cDNA has been deleted at a 5' region in a patient with nonketotic hyperglycinemia
    T Sakakibara
    Department of Biochemistry, Toyama Medical and Pharmaceutical University School of Medicine, Japan
    Biochem Biophys Res Commun 173:801-6. 1990
    ....
  31. ncbi request reprint Cloning of cDNA encoding human H-protein, a constituent of the glycine cleavage system
    K Hiraga
    Department of Biochemistry, Toyama Medical and Pharmaceutical, University School of Medicine, Japan
    Biochem Biophys Res Commun 151:758-62. 1988
    ....
  32. ncbi request reprint Long-term correction of hyperphenylalaninemia by AAV-mediated gene transfer leads to behavioral recovery in phenylketonuria mice
    S Mochizuki
    Division of Genetic Therapeutics, Center for Molecular Medicine, Jichi Medical School, Tochigi, Japan
    Gene Ther 11:1081-6. 2004
    ..These results demonstrate that AAV-mediated liver transduction ameliorated the PKU phenotype, including central nervous system dysfunctions...
  33. ncbi request reprint Structure, turnover, and heme-mediated suppression of the level of mRNA encoding rat liver delta-aminolevulinate synthase
    M Yamamoto
    Department of Biochemistry, Toyama Medical and Pharmaceutical University School of Medicine, Japan
    J Biol Chem 263:15973-9. 1988
    ..The results provide convincing evidence that heme inhibits the transcription of delta-aminolevulinate synthase mRNA...
  34. ncbi request reprint Normal hepatic hemodynamics during early postoperative period in recipients with adult live donor liver transplantation
    H Sugimoto
    Nagoya University, Nagoya, Japan
    Transplant Proc 39:160-5. 2007
    ..72 +/- 0.11 vs 0.62 +/- 0.04 on day 1 (P = .0326). In conclusion, we have shown "abnormal" hepatic hemodynamics in even those recipients without complications during the early postoperative period after LDLT...