Shigeo Kure

Summary

Affiliation: Tohoku University
Country: Japan

Publications

  1. ncbi request reprint Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia
    Shigeo Kure
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Hum Mutat 27:343-52. 2006
  2. ncbi request reprint Rapid diagnosis of glycine encephalopathy by 13C-glycine breath test
    Shigeo Kure
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Ann Neurol 59:862-7. 2006
  3. ncbi request reprint Wild-type phenylalanine hydroxylase activity is enhanced by tetrahydrobiopterin supplementation in vivo: an implication for therapeutic basis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
    Shigeo Kure
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Mol Genet Metab 83:150-6. 2004
  4. ncbi request reprint Mild variant of nonketotic hyperglycinemia with typical neonatal presentations: mutational and in vitro expression analyses in two patients
    Shigeo Kure
    Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Japan
    J Pediatr 144:827-9. 2004
  5. ncbi request reprint Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome
    Yoko Narumi
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Am J Med Genet A 143:799-807. 2007
  6. ncbi request reprint A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation
    Fumiaki 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
  7. ncbi request reprint 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
  8. ncbi request reprint Direct correlation between ischemic injury and extracellular glycine concentration in mice with genetically altered activities of the glycine cleavage multienzyme system
    Masaya Oda
    Department of Medical Genetics, Tohoku University School of Medicine, Seiryomachi, Aobaku, Japan
    Stroke 38:2157-64. 2007
  9. doi request reprint 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 receptor
    Kanako Kojima-ishii
    Department of Medical Genetics, Tohoku University School of Medicine, Miyagi, Japan
    Pediatr Res 64:228-33. 2008
  10. doi request reprint Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome
    Yoko 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

Detail Information

Publications68

  1. ncbi request reprint Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia
    Shigeo 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...
  2. ncbi request reprint Rapid diagnosis of glycine encephalopathy by 13C-glycine breath test
    Shigeo 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...
  3. ncbi request reprint Wild-type phenylalanine hydroxylase activity is enhanced by tetrahydrobiopterin supplementation in vivo: an implication for therapeutic basis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
    Shigeo Kure
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Mol Genet Metab 83:150-6. 2004
    ....
  4. ncbi request reprint Mild variant of nonketotic hyperglycinemia with typical neonatal presentations: mutational and in vitro expression analyses in two patients
    Shigeo 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...
  5. ncbi request reprint Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome
    Yoko Narumi
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Am J Med Genet A 143:799-807. 2007
    ....
  6. ncbi request reprint A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation
    Fumiaki 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...
  7. ncbi request reprint 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...
  8. ncbi request reprint Direct correlation between ischemic injury and extracellular glycine concentration in mice with genetically altered activities of the glycine cleavage multienzyme system
    Masaya 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...
  9. doi request reprint 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 receptor
    Kanako 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...
  10. doi request reprint Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome
    Yoko 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...
  11. ncbi request reprint Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion
    Shuji 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...
  12. 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...
  13. ncbi request reprint Association between nonsyndromic cleft lip with or without cleft palate and the glutamic acid decarboxylase 67 gene in the Japanese population
    Kiyoshi 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...
  14. doi request reprint A genome-wide association study identifies RNF213 as the first Moyamoya disease gene
    Fumiaki 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...
  15. ncbi request reprint Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation
    Xue 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...
  16. ncbi request reprint Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R
    Kanako 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...
  17. doi request reprint Hypoperfusion in caudate nuclei in patients with brain-lung-thyroid syndrome
    Mitsugu 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...
  18. doi request reprint Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey
    Yu 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...
  19. doi request reprint Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation
    Tomoko 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...
  20. doi request reprint Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies
    Shoko Komatsuzaki
    Department of Medical Genetics, Tohoku University School of Medicine, 1 1 Seiryo machi, Sendai, Miyagi, Japan
    J Hum Genet 55:801-9. 2010
    ....
  21. ncbi request reprint Germline mutations in HRAS proto-oncogene cause Costello syndrome
    Yoko 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...
  22. ncbi request reprint Linkage and association of childhood asthma with the chromosome 12 genes
    Chenchen 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)...
  23. pmc Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans
    Ayumi 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...
  24. ncbi request reprint Mutations in the holocarboxylase synthetase gene HLCS
    Yoichi 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...
  25. ncbi request reprint Glycine cleavage system in neurogenic regions
    Akiko 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...
  26. ncbi request reprint Mutation detection of GJB2 using IsoCode and real-time quantitative polymerase chain reaction with SYBR green I dye for newborn hearing screening
    Takayuki Kudo
    Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Japan
    Laryngoscope 114:1299-304. 2004
    ..The GJB2 contains a predicted open reading frame of 785 base pairs, which makes it relatively easy to detect mutations. Accordingly, mutation analysis of GJB2 should be suitable for the screening of congenital deafness...
  27. doi request reprint Effect of a blackout in pediatric patients with home medical devices during the 2011 eastern Japan earthquake
    Tojo Nakayama
    Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan Electronic address
    Brain Dev 36:143-7. 2014
    ..Preparing alternative measures for emergent electricity and communications could remedy serious conditions during a disaster. ..
  28. ncbi request reprint Genotyping of single nucleotide polymorphisms (SNPs) influencing drug response by competitive allele-specific short oligonucleotide hybridization (CASSOH) with immunochromatographic strip
    Masahiro 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...
  29. ncbi request reprint De novo and salvage pathways of DNA synthesis in primary cultured neurall stem cells
    Kenichi 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...
  30. doi request reprint Selective expansion of donor-derived regulatory T cells after allogeneic bone marrow transplantation in a patient with IPEX syndrome
    Satoshi Horino
    Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan Department of Hematology and Oncology, Miyagi Children s Hospital, Sendai, Miyagi, Japan
    Pediatr Transplant 18:E25-30. 2014
    ....
  31. doi request reprint Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13
    Atsuo 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...
  32. doi request reprint Smith-Magenis syndrome with West syndrome in a 5-year-old girl: a long-term follow-up study
    Naomi 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...
  33. ncbi request reprint Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis
    Junko 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...
  34. ncbi request reprint Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia
    Xue 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...
  35. doi request reprint The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders
    Yoko Aoki
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Hum Mutat 29:992-1006. 2008
    ..Details on mutations will be updated in the RAS/MAPK Syndromes Homepage (www.medgen.med.tohoku.ac.jp/RasMapk syndromes.html)...
  36. doi request reprint T-cell receptor ligation causes Wiskott-Aldrich syndrome protein degradation and F-actin assembly downregulation
    Yuko Watanabe
    Department of Pediatrics, Tohoku University Graduate School of Medicine, Miyagi, Japan
    J Allergy Clin Immunol 132:648-655.e1. 2013
    ..WASP is normally protected from degradation by the Ca(++)-dependent protease calpain and by the proteasome because of its interaction with the WASP-interacting protein...
  37. ncbi request reprint Utility of thallium-201 scintigraphy in Tolosa-Hunt syndrome
    Yosuke 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...
  38. ncbi request reprint Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
    Tetsuya Niihori
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Nat Genet 38:294-6. 2006
    ....
  39. ncbi request reprint 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 population
    Kiyoshi 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...
  40. ncbi request reprint Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafness
    Takayuki Kudo
    Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Japan
    Hum Mol Genet 12:995-1004. 2003
    ....
  41. doi request reprint Successful treatment with rituximab of an infant with refractory autoimmune hemolytic anemia
    Kunihiko Moriya
    Department of Pediatrics, Tohoku University Graduate School of Medicine, 1 1 Seiryo machi, Aoba ku, Sendai, Miyagi 980 8574, Japan
    Int J Hematol 98:237-9. 2013
    ..This case suggests that rituximab may be a valuable therapeutic option, given its efficacy and minimal adverse effects in infants with therapy-resistant AIHA. ..
  42. doi request reprint Interstitial lung disease in two brothers with novel compound heterozygous ABCA3 mutations
    Hiroshi Kitazawa
    Department of Pediatrics, Tohoku University School of Medicine, 1 1 Seiryo cho, Aoba ku, Sendai 980 8574, Japan
    Eur J Pediatr 172:953-7. 2013
    ..Conclusion Since ABCA3 mutations seem to be a heterogeneous entity with various phenotypes, we recommend genetic testing for mutations in SP-C and ABCA3 genes to be considered in children with unexplained interstitial lung disease...
  43. ncbi request reprint Two novel mutations in the lactase gene in a Japanese infant with congenital lactase deficiency
    Nao 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...
  44. pmc Development of a multi-step leukemogenesis model of MLL-rearranged leukemia using humanized mice
    Kunihiko 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...
  45. pmc Casitas B-cell lymphoma mutation in childhood T-cell acute lymphoblastic leukemia
    Yuka 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...
  46. doi request reprint Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene
    Osamu Sakamoto
    Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan
    Pediatr Int 53:921-5. 2011
    ....
  47. ncbi request reprint Detection of single nucleotide substitution by competitive allele-specific short oligonucleotide hybridization (CASSOH) with immunochromatographic strip
    Yoichi 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...
  48. pmc Gene therapy model of X-linked severe combined immunodeficiency using a modified foamy virus vector
    Satoshi Horino
    Department of Microbiology and Immunology, Tohoku University Graduate School of Medicine, Sendai, Japan Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan
    PLoS ONE 8:e71594. 2013
    ..These data suggest that FV vectors can be effective and may be safer than conventional RV vectors for gene therapy for SCID-X1...
  49. doi request reprint Brain magnetic resonance imaging and motor and intellectual functioning in 86 patients born at term with spastic diplegia
    Yurika 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...
  50. doi request reprint 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...
  51. doi request reprint A case series of CAEBV of children and young adults treated with reduced-intensity conditioning and allogeneic bone marrow transplantation: a single-center study
    Yuko Watanabe
    Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan
    Eur J Haematol 91:242-8. 2013
    ..Allogeneic hematopoietic stem cell transplantation (HSCT) is curative treatment for CAEBV patients. However, chemotherapy prior to HSCT and optimal conditioning regimen for allogeneic HSCT are still controversial...
  52. doi request reprint Increased Ki-67 immunoreactivity in the white matter in hemimegalencephaly
    Mitsutoshi Munakata
    Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan
    Neurosci Lett 548:244-8. 2013
    ..In HMG, microglia were activated and entered into a proliferative status with higher distribution in the white matter, implying an ongoing neuroinflammatory process involving the white matter. ..
  53. ncbi request reprint Electrophysiological and histopathological characteristics of progressive atrioventricular block accompanied by familial dilated cardiomyopathy caused by a novel mutation of lamin A/C gene
    Jun Otomo
    Department of Cardiovascular Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan
    J Cardiovasc Electrophysiol 16:137-45. 2005
    ..Conduction defect caused by lamin A/C gene mutation...
  54. ncbi request reprint Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia
    Tetsuya 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...
  55. ncbi request reprint Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene
    Haruo 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...
  56. ncbi request reprint A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem
    Avihu 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...
  57. ncbi request reprint 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...
  58. ncbi request reprint Leukemia in Cardio-facio-cutaneous (CFC) syndrome: a patient with a germline mutation in BRAF proto-oncogene
    Yoshio 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...
  59. pmc Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia
    Junko Kanno
    J Med Genet 44:e69. 2007
    ..Our recent study has suggested that there are a considerable number of GLDC mutations which are not identified by the standard exon-sequencing method...
  60. doi request reprint Association of the GABRB3 gene with nonsyndromic oral clefts
    Hiroki 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...
  61. ncbi request reprint Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation
    Stanley 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...
  62. ncbi request reprint Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation
    Stanley 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...
  63. ncbi request reprint A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family
    Kyoko 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...
  64. pmc Small Maf compound mutants display central nervous system neuronal degeneration, aberrant transcription, and Bach protein mislocalization coincident with myoclonus and abnormal startle response
    Fumiki 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...
  65. ncbi request reprint Atypical variants of nonketotic hyperglycinemia
    Argirios 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...
  66. doi request reprint Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy
    Ji 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...
  67. ncbi request reprint Progressive vacuolating glycine leukoencephalopathy with pulmonary hypertension
    Mireia Del Toro
    Secció de Neurologia Infantil, 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...
  68. ncbi request reprint 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...