Research Topics
Genomes and Genes
| Shigeo KureSummaryAffiliation: Tohoku University Country: Japan Publications
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Detail Information
Publications
Rapid diagnosis of glycine encephalopathy by 13C-glycine breath testShigeo Kure
Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
Ann Neurol 59:862-7. 2006..Because the glycine cleavage system breaks down glycine generating carbon dioxide, we suppose that the glycine cleavage system activity could be evaluated in vivo by measuring exhaled (13)CO(2) after administration of [1-(13)C]glycine...- Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemiaShigeo Kure
Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
Hum Mutat 27:343-52. 2006..Multiple origins of the exon 1 deletion were suggested by haplotype analysis with four GLDC polymorphisms. This study provides a comprehensive picture of the genetic background of NKH as it is known to date... - Wild-type phenylalanine hydroxylase activity is enhanced by tetrahydrobiopterin supplementation in vivo: an implication for therapeutic basis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiencyShigeo Kure
Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
Mol Genet Metab 83:150-6. 2004.... - Mild variant of nonketotic hyperglycinemia with typical neonatal presentations: mutational and in vitro expression analyses in two patientsShigeo Kure
Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Japan
J Pediatr 144:827-9. 2004..The in vitro expression analysis of the identified GLDC mutations revealed considerable residual enzyme activity, suggesting prognostic and enzymatic heterogeneity even in neonatal-onset nonketotic hyperglycinemia... - Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndromeYoko Narumi
Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
Am J Med Genet A 143:799-807. 2007.... - A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlationFumiaki Kamada
Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan
J Hum Genet 51:455-60. 2006..The phenotypic difference may be caused by the difference in pathogenic mechanisms: haploinsufficiency in deletions and dominant-negative effect in missense mutations... - Direct correlation between ischemic injury and extracellular glycine concentration in mice with genetically altered activities of the glycine cleavage multienzyme systemMasaya Oda
Department of Medical Genetics, Tohoku University School of Medicine, Seiryomachi, Aobaku, Japan
Stroke 38:2157-64. 2007..To approach this issue, we examined ischemic injury in mice with genetically altered activities of the glycine cleavage multienzyme system (GCS), which plays a fundamental role in maintaining extracellular glycine concentration... 
Model mice for mild-form glycine encephalopathy: behavioral and biochemical characterizations and efficacy of antagonists for the glycine binding site of N-methyl D-aspartate receptorKanako Kojima-ishii
Department of Medical Genetics, Tohoku University School of Medicine, Miyagi, Japan
Pediatr Res 64:228-33. 2008..Our results suggest the usefulness of low-GCS mice as a mouse model for mild GE and a novel therapeutic strategy...- Significant association between nonsyndromic oral clefts and arylhydrocarbon receptor nuclear translocator (ARNT)Shuji Kayano
Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
Am J Med Genet A 130:40-4. 2004..021). The SNPs studied in AHR and CYP1A1 were not associated with the disease. Our results suggest that ARNT is involved in the development of nonsyndromic oral clefts in the Japanese population... - Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletionShuji Kayano
Department of Medical Genetics, Tohoku University School of Medicine, Seiryomachi, Aoba ku, Sendai 980 8574, Japan
J Hum Genet 48:622-8. 2003..Our simple methods to identify deletions and to determine the boundaries of a deletion would facilitate the identification of such patients... - Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndromeYoko Narumi
Department of Medical Genetics, Tohoku University School of Medicine, 1 1 Seiryo machi, Sendai 980 8574, Japan
J Hum Genet 53:834-41. 2008..These three patients exhibited ectodermal abnormalities, such as curly hair, sparse eyebrows, and dry skin, and two of them showed mental retardation. Our results suggest that patients with SOS1 mutations range from NS to CFC syndrome... - 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... - Association between nonsyndromic cleft lip with or without cleft palate and the glutamic acid decarboxylase 67 gene in the Japanese populationKiyoshi Kanno
Department of Medical Genetics, Tohoku University School of Medicine, 1 1 Seiryomachi, Aobaku, Sendai 980 8574, Japan
Am J Med Genet A 127:11-6. 2004..0077). Our data suggest that GAD67 is involved in the pathogenesis of NSCLP in the Japanese population... - A genome-wide association study identifies RNF213 as the first Moyamoya disease geneFumiaki Kamada
Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
J Hum Genet 56:34-40. 2011..8, 95% confidence interval = 71.7-507.9). Three additional missense mutations were identified in the p.R4859K-negative patients. These results indicate that RNF213 is the first identified susceptibility gene for MMD... - Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutationXue Yang
Department of Medical Genetics, Tohoku University School of Medicine, Japan
Mol Genet Metab 82:329-33. 2004..This finding may facilitate the DNA diagnosis of vitamin B(12)-responsive MMA within the Japanese population... - Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118RKanako Kojima
Department of Medical Genetics, Tohoku University School of Medicine, 1 1 Seiryo machi, Aoba ku, Sendai 980 8574, Japan
Mol Genet Metab 81:343-6. 2004..The genetic tests using the simple TaqMan method coupled with sequencing analysis would facilitate the early diagnosis of this disorder... - Hypoperfusion in caudate nuclei in patients with brain-lung-thyroid syndromeMitsugu Uematsu
Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan
J Neurol Sci 315:77-81. 2012..These brain nuclear image findings indicate that NKX2-1 haploinsufficiency causes dysfunction of the basal ganglia, especially the caudate nuclei, resulting in choreoathetosis and gait disturbance in this disease... - Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological surveyYu Abe
Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
Am J Med Genet A 158:1083-94. 2012..Identifying patients older than 32 years of age and following up on the patients reported here is important to estimate the precise prevalence and the natural history of these disorders... - Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignanciesShoko Komatsuzaki
Department of Medical Genetics, Tohoku University School of Medicine, 1 1 Seiryo machi, Sendai, Miyagi, Japan
J Hum Genet 55:801-9. 2010.... - Linkage and association of childhood asthma with the chromosome 12 genesChenchen Shao
Department of Medical Genetics, Tohoku University School of Medicine, 1 1 Seiryo machi, Aoba ku, Sendai 980 8574, Japan
J Hum Genet 49:115-22. 2004..Our results suggest that NOS1 and STAT6 are asthma-susceptibility genes and that chromosome region 12q24.23-q24.33 contains other susceptibility gene(s)... - Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activationTomoko Kobayashi
Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
Hum Mutat 31:284-94. 2010..Our results suggest that the dephosphorylation of S259 is the primary pathogenic mechanism in the activation of RAF1 mutants located in the CR2 domain as well as of downstream ERK... - Germline mutations in HRAS proto-oncogene cause Costello syndromeYoko Aoki
Department of Medical Genetics, Tohoku University School of Medicine, 1 1 Seiryo machi, Sendai 980 8574, Japan
Nat Genet 37:1038-40. 2005..Our observations suggest that germline mutations in HRAS perturb human development and increase susceptibility to tumors... 
Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humansAyumi Narisawa
Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
Hum Mol Genet 21:1496-503. 2012..Overall, our findings suggest that loss-of-function mutations in GCS genes predispose to NTDs in mice and humans. These data highlight the importance of adequate function of mitochondrial folate metabolism in neural tube closure...- Mutations in the holocarboxylase synthetase gene HLCSYoichi Suzuki
Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
Hum Mutat 26:285-90. 2005..Patients who have mutant HLCS with higher residual activity develop symptom after the neonatal period and show a good clinical response to biotin therapy... - Mutation detection of GJB2 using IsoCode and real-time quantitative polymerase chain reaction with SYBR green I dye for newborn hearing screeningTakayuki Kudo
Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Japan
Laryngoscope 114:1299-304. 2004.... - Glycine cleavage system in neurogenic regionsAkiko Ichinohe
Department of Medical Genetics, Tohoku University School of Medicine, Sendai 980-8574, Japan
Eur J Neurosci 19:2365-70. 2004..These data indicate that GCS plays important roles in neurogenesis, and suggest that disturbance of neurogenesis induced by deficiency of GCS may be the main pathogenesis of nonketotic hyperglycinemia... - Genotyping of single nucleotide polymorphisms (SNPs) influencing drug response by competitive allele-specific short oligonucleotide hybridization (CASSOH) with immunochromatographic stripMasahiro Hiratsuka
Department of Clinical Pharmaceutics, Tohoku Pharmaceutical University, Sendai, Japan
Drug Metab Pharmacokinet 19:303-7. 2004..This method is rapid, highly sensitive, simplified, and should be suitable for point-of-care genotyping in clinical settings... - De novo and salvage pathways of DNA synthesis in primary cultured neurall stem cellsKenichi Sato
Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Sendai 980-8574, Japan
Brain Res 1071:24-33. 2006..These results suggested that activating de novo DNA synthesis was needed for neural stem cells to proliferate with multipotentiality... - Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13Atsuo Kikuchi
Department of Pediatrics, Tohoku University Graduate School of Medicine, 1 1 Seiryo machi, Aoba ku, Sendai, Miyagi 980 8574, Japan
Mol Genet Metab 105:553-8. 2012..Therefore, this assay could be used for newborn screening and for facilitating the genetic diagnosis of citrin deficiency, especially in East Asian populations... - The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disordersYoko Aoki
Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
Hum Mutat 29:992-1006. 2008..quot; Details on mutations will be updated in the RAS/MAPK Syndromes Homepage (www.medgen.med.tohoku.ac.jp/RasMapk syndromes.html)... - Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysisJunko Kanno
Department of Medical Genetics, Tohoku University School of Medicine, 1 1 Seiryomachi, Aobaku, Sendai 980 8574, Japan
Mol Genet Metab 91:384-9. 2007..These results suggest allelic and non-allelic heterogeneities of PDS, and that the CSF glutamate elevation does not directly correlate with the presence of ALDH7A1 mutations... - Smith-Magenis syndrome with West syndrome in a 5-year-old girl: a long-term follow-up studyNaomi Hino-Fukuyo
Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan
J Child Neurol 24:868-73. 2009..This is the second report of a patient with Smith-Magenis syndrome and West syndrome; taken together, these results suggest that Smith-Magenis syndrome may be a further cause of West syndrome... - Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemiaXue Yang
Department of Medical Genetics, Tohoku University School of Medicine, 1 1 Seiryo machi, Aoba ku, Sendai 980 8574, Japan
Mol Genet Metab 81:335-42. 2004..7, and 13.3%, respectively. In conclusion, a limited number of mutations are predominant in both PCCA and PCCB genes among Japanese patients with propionic acidemia... - Utility of thallium-201 scintigraphy in Tolosa-Hunt syndromeYosuke Kakisaka
Department of Pediatrics, Tohoku University School of Medicine, Miyagi, Japan
Tohoku J Exp Med 229:83-6. 2013..In conclusion, we suggest that (201)Tl scintigraphy may be useful for making the diagnosis of THS, especially in pediatric patients... - Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafnessTakayuki Kudo
Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Japan
Hum Mol Genet 12:995-1004. 2003.... - Lack of evidence for a significant association between nonsyndromic cleft lip with or without cleft palate and the retinoic acid receptor alpha gene in the Japanese populationKiyoshi Kanno
Department of Plastic Surgery, Tohoku University School of Medicine, Sendai, Japan
J Hum Genet 47:269-74. 2002..No association between this polymorphism and NSCLP was observed. Our findings suggest that the RARA gene variations do not contribute to the development of NSCLP in the Japanese population... - Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndromeTetsuya Niihori
Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
Nat Genet 38:294-6. 2006.... - Development of a multi-step leukemogenesis model of MLL-rearranged leukemia using humanized miceKunihiko Moriya
Department of Microbiology and Immunology, Tohoku University Graduate School of Medicine, Sendai, Japan
PLoS ONE 7:e37892. 2012..In addition, since the enforced expression of the mutant K-ras alone was insufficient to induce leukemia, the present model may also be a useful experimental platform for the multi-step leukemogenesis model of human leukemia... - Two novel mutations in the lactase gene in a Japanese infant with congenital lactase deficiencyNao Uchida
Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan
Tohoku J Exp Med 227:69-72. 2012..To our knowledge, this is the first report on mutations in the LCT gene in Japan. We suggest that an increased awareness is required regarding CLD... - Casitas B-cell lymphoma mutation in childhood T-cell acute lymphoblastic leukemiaYuka Saito
Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
Leuk Res 36:1009-15. 2012..The activation of the RAS pathway was enhanced, and activation of the NOTCH1 pathway was inhibited in NIH 3T3 cells that expressed p.C381R. This study appears to be the first to identify a CBL mutation in T-ALL... - Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 geneOsamu Sakamoto
Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan
Pediatr Int 53:921-5. 2011.... - Detection of single nucleotide substitution by competitive allele-specific short oligonucleotide hybridization (CASSOH) with immunochromatographic stripYoichi Matsubara
Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
Hum Mutat 22:166-72. 2003..The result is obtained within 10 min after PCR. This rapid and simple method of SNP detection may be used for point-of-care genetic diagnosis with potentially diverse clinical applications. Hum Mutat 22:166-172, 2003... - Brain magnetic resonance imaging and motor and intellectual functioning in 86 patients born at term with spastic diplegiaYurika Numata
Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan
Dev Med Child Neurol 55:167-72. 2013..To investigate the association between magnetic resonance imaging (MRI) patterns and motor function, epileptic episodes, and IQ or developmental quotient in patients born at term with spastic diplegia... - Two novel laboratory tests facilitating diagnosis of glycine encephalopathy (nonketotic hyperglycinemia)Shigeo Kure
Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan
Brain Dev 33:753-7. 2011..Two novel diagnosis methods would facilitate diagnosis of hyperglycinemic patients as having GE... - Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemiaTetsuya Niihori
Department of Medical Genetics, Tohoku University School of Medicine, 1 1 Seiryo machi, Sendai 980 8574, Japan
J Hum Genet 50:192-202. 2005..A comparison of the phosphatase activity in each mutant and a review of previously reported cases showed that high phosphatase activity observed in mutations at codons 61, 71, 72, and 76 was significantly associated with leukemogenesis... - Electrophysiological and histopathological characteristics of progressive atrioventricular block accompanied by familial dilated cardiomyopathy caused by a novel mutation of lamin A/C geneJun Otomo
Department of Cardiovascular Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan
J Cardiovasc Electrophysiol 16:137-45. 2005..Histological study revealed preferential degeneration at the AV node area and novel cellular damages in the working myocardium... - Leukemia in Cardio-facio-cutaneous (CFC) syndrome: a patient with a germline mutation in BRAF proto-oncogeneYoshio Makita
Department of Pediatrics, Asahikawa Medical College, Asahikawa, Japan
J Pediatr Hematol Oncol 29:287-90. 2007..Molecular diagnosis and careful observations should be considered in children with CFC syndrome because they have germline mutations in proto-oncogenes and might develop malignancy... - Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemiaJunko Kanno
J Med Genet 44:e69. 2007..CONCLUSIONS: GLDC deletions are a significant cause of NKH, and the MLPA analysis is a valuable first-line screening for NKH genetic testing... - Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase geneHaruo Shintaku
Department of Pediatrics, Osaka City University Graduate School of Medicine, 1 4 3, Asahimachi, Abeno Ku, Osaka 545 8585, Japan
Pediatr Res 55:425-30. 2004..BH(4) proved to be an effective therapy that may be able to replace or liberalize the phenylalanine-restricted diets for a considerable number of patients with mild PKU... - Persistent NKH with transient or absent symptoms and a homozygous GLDC mutationStanley H Korman
Department of Clinical Biochemistry, Hadassah Hebrew University Medical Center, Jerusalem, Israel
Ann Neurol 56:139-43. 2004..This exceptional outcome may be related to the high residual activity of the mutant protein (32% of wild type) and therapeutic intervention during a critical period of heightened brain exposure and sensitivity to glycine... - Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutationStanley H Korman
Department of Clinical Biochemistry, Mt Scopus, Hadassah Hebrew University Medical Center, Jerusalem, Israel
Ann Neurol 59:411-5. 2006..To determine whether the devastating outcome of neonatal-onset glycine encephalopathy (NKH) could be improved by instituting treatment immediately at birth rather than after symptoms are already well established... - Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia)Jennifer R Toone
Department of Pediatrics, University of British Columbia, BC, Vancouver, Canada
Mol Genet Metab 76:243-9. 2002..The mutations identified were of eight single base changes: a one-base deletion 1054del A, a splice site mutation IVS18-2A-->G and six amino acid substitutions A283P, A313P, P329T, R410K, P700A, and G762R... - Association of the GABRB3 gene with nonsyndromic oral cleftsHiroki Inoue
Department of Public Health, Chiba University Graduate School of Medicine, Chiba, Japan
Cleft Palate Craniofac J 45:261-6. 2008..The GABRB3 gene is therefore a strong candidate gene for nonsyndromic oral clefts. We investigated here whether genetic variations of the GABRB3 gene affect the risk for nonsyndromic oral clefts... - A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in JerusalemAvihu Boneh
Department of Human Genetics, Hadassah Hebrew University Medical Centre, Jerusalem, Israel
J Hum Genet 50:230-4. 2005..A methionine to threonine change in the initiation codon of the glycine decarboxylase gene led to markedly reduced glycine decarboxylase mRNA levels and abolished glycine cleavage system activity... - Atypical variants of nonketotic hyperglycinemiaArgirios Dinopoulos
Cincinnati Children s Hospital Medical Center, Division of Neurology, 3333 Burnet Avenue, Cincinnati, OH 45229 3039, USA
Mol Genet Metab 86:61-9. 2005..Identification of more mutations causing atypical NKH and information about the mutations' effect on enzyme activity may help to predict patients with a milder phenotype as well as those who may respond to early therapeutic intervention... - Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancyJi Wen Wang
Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan
Epilepsia 49:1528-34. 2008..Microchromosomal deletions have been recently reported as additional causes of SMEI. This study examines whether such microdeletions are associated with SMEI as well as with SMEB... - A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese familyKyoko Takano
Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan
Am J Med Genet B Neuropsychiatr Genet 147:479-84. 2008..Our study also suggested that the FTSJ1 mutation probably accounts for XLMR in Japanese at a similar frequency (1-2%) as in Europeans... - Competitive allele-specific short oligonucleotide hybridization (CASSOH) with enzyme-linked immunosorbent assay (ELISA) for the detection of pharmacogenetic single nucleotide polymorphisms (SNPs)Masahiro Hiratsuka
Department of Clinical Pharmaceutics, Tohoku Pharmaceutical University, 4-4-1, Komatsushima, Sendai 981-8558, Japan
J Biochem Biophys Methods 67:87-94. 2006..It would also facilitate point-of-care genetic testing for potentially diverse clinical applications... - Progressive vacuolating glycine leukoencephalopathy with pulmonary hypertensionMireia Del Toro
, Barcelona, Spain
Ann Neurol 60:148-52. 2006..The clinical and radiological evolution, as progressive vacuolating leukoencephalopathy and the association with pulmonary hypertension constitute a previously unrecognized variant... - Small Maf compound mutants display central nervous system neuronal degeneration, aberrant transcription, and Bach protein mislocalization coincident with myoclonus and abnormal startle responseFumiki Katsuoka
Institute of Basic Medical Sciences and Center for Tsukuba Advanced Research Alliance, University of Tsukuba, Tsukuba 305 8577, Japan
Mol Cell Biol 23:1163-74. 2003..Thus compound mafG::mafK mutants develop age- and maf gene dosage-dependent cell-autonomous neuronal deficiencies that lead to profound neurological defects...