Research Topics
Genomes and Genes
| Yoko AokiSummaryAffiliation: Tohoku University Country: Japan Publications
| Collaborators
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Detail Information
Publications
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...
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)...- 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.... - 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... - 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... - 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... - 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... - 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... - HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndromeTetsuya Niihori
Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
J Hum Genet 56:707-15. 2011..Our findings suggest that the HRAS mutations identified in CS are sufficient to cause oncogene-induced senescence and that cellular senescence might therefore contribute to the pathogenesis of CS... - 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... - 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... - [Human development and the RAS/MAPK pathway]Yoko Aoki
Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
Seikagaku 79:34-8. 2007 - 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.... - 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... - 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... - 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 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... - 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)... 
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...- 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.... - 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... - 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... - 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.... - 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... - 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... - 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... - 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... - 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.... - 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... - 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... - 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... - HRAS mutation analysis in Costello syndrome: genotype and phenotype correlationKaren W Gripp
Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, DE 19899, USA
Am J Med Genet A 140:1-7. 2006..Five different HRAS mutations have now been reported in Costello syndrome, however genotype-phenotype correlation remains incomplete... - Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007Katherine A Rauen
Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, California, USA
Am J Med Genet A 146:1205-17. 2008 - Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndromeCaroline Nava
Department of Genetics, AP HP, Hopital Robert Debre, Paris, France
J Med Genet 44:763-71. 2007..Although some associated features appear to be characteristic of a specific gene, no simple rule exists to distinguish NS from CFC easily... - 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... - Noonan syndrome with leukaemoid reaction and overproduction of catecholamines: a case reportTatsuro Kondoh
Eur J Pediatr 162:548-9. 2003 - A novel insertion mutation of acetazolamide-responsive episodic ataxia in a Japanese familyZenjiro Matsuyama
Department of Neurology and Geriatrics, Gifu University, School of Medicine, Tsukasa machi, Gifu 500 8705, Japan
J Neurol Sci 210:91-3. 2003..This mutation is estimated to cause early stop of the gene transcription, producing a truncated protein. This is the first report of episodic ataxia type 2 of which the mutation was identified in a Japanese family... - 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...