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Genomes and Genes | S KureSummaryAffiliation: Tohoku University Country: Japan Publications
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Publications
Prenatal diagnosis of non-ketotic hyperglycinaemia: enzymatic diagnosis in 28 families and DNA diagnosis detecting prevalent Finnish and Israeli-Arab mutationsS 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...- A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemiaS 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... - Mutation and polymorphic marker analyses of 65K- and 67K-glutamate decarboxylase genes in two families with pyridoxine-dependent epilepsyS 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... - 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 hyperglycinemiaS 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... - A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemiaS 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... - 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 11S 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... - Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemiaShigeo 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... - 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 hyperglycinemiaM 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... - Dinucleotide repeat polymorphism in 65k-glutamate decarboxylase geneS 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 - Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cellsJ 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... - Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter geneD 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... - Structure and expression of the glycine cleavage system in rat central nervous systemY 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... - GJB2 (connexin 26) mutations and childhood deafness in ThailandT 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... - Assignment of Gldc encoding glycine decarboxylase to mouse chromosome 19C by in situ hybridization and a CA repeat polymorphism in the Gldc geneT Shinka
Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
Cytogenet Cell Genet 83:260-1. 1998 - Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypesK 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... - Glycogen storage disease type Ib without neutropeniaS Kure
Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
J Pediatr 137:253-6. 2000.... - Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiencyX 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.... 
Identification of a common mutation in Finnish patients with nonketotic hyperglycinemiaS 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...- Rapid detection of CYP2C18 genotypes by real-time fluorescence polymerase chain reactionM 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... - Structural and expression analyses of normal and mutant mRNA encoding glycine decarboxylase: three-base deletion in mRNA causes nonketotic hyperglycinemiaS 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... - Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patientsH 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... - Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese populationT 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... - A novel mutation in glial fibrillary acidic protein gene in a patient with Alexander diseaseY 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... - Association of the hCLCA1 gene with childhood and adult asthmaF 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... - Complete suppression of insulitis and diabetes in NOD mice lacking interferon regulatory factor-1T 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... - Association of a mutation in thiazide-sensitive Na-Cl cotransporter with familial Gitelman's syndromeK Takeuchi
Second Department of Internal Medicine, Tohoku University School of Medicine, Sendai, Japan
J Clin Endocrinol Metab 81:4496-9. 1996.... - Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutationH 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... - Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adultsA 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... - The glycine cleavage system. Molecular cloning of the chicken and human glycine decarboxylase cDNAs and some characteristics involved in the deduced protein structuresA 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... - One of the two genomic copies of the glycine decarboxylase cDNA has been deleted at a 5' region in a patient with nonketotic hyperglycinemiaT Sakakibara
Department of Biochemistry, Toyama Medical and Pharmaceutical University School of Medicine, Japan
Biochem Biophys Res Commun 173:801-6. 1990.... - Cloning of cDNA encoding human H-protein, a constituent of the glycine cleavage systemK Hiraga
Department of Biochemistry, Toyama Medical and Pharmaceutical, University School of Medicine, Japan
Biochem Biophys Res Commun 151:758-62. 1988.... - Long-term correction of hyperphenylalaninemia by AAV-mediated gene transfer leads to behavioral recovery in phenylketonuria miceS 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... - Structure, turnover, and heme-mediated suppression of the level of mRNA encoding rat liver delta-aminolevulinate synthaseM 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... - Normal hepatic hemodynamics during early postoperative period in recipients with adult live donor liver transplantationH 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...