Experts and Doctors on mutation in Shizuoka, Japan


Locale: Shizuoka, Japan
Topic: mutation

Top Publications

  1. Yokoiyama A, Kada T, Kuroda Y. Antimutagenic action of cobaltous chloride on radiation-induced mutations in cultured Chinese hamster cells. Mutat Res. 1990;245:99-105 pubmed
    ..Pre- or post-treatment with cobaltous chloride had no such effect on UV-induced mutations, however. The difference in responsiveness to cobaltous chloride between bacterial and mammalian cell systems is discussed. ..
  2. Suzuki K, Ito S, Shimizu Ibuka A, Sakai H. Crystal structure of pyruvate kinase from Geobacillus stearothermophilus. J Biochem. 2008;144:305-12 pubmed publisher
    ..Through comparison of the structure of the putative effector-binding site to that of the FBP binding site of the yeast enzyme, the structural basis of the effector specificity of the G. stearothermophilus PK is discussed. ..
  3. Abe I, Tanaka H, Abe T, Noguchi H. Enzymatic formation of unnatural cytokinin analogs by adenylate isopentenyltransferase from mulberry. Biochem Biophys Res Commun. 2007;355:795-800 pubmed
  4. Matsui T, Maruhashi K. Isolation of carotenoid-deficient mutant from alkylated dibenzothiophene desulfurizing nocardioform bacteria, Gordonia sp. TM414. Curr Microbiol. 2004;48:130-4 pubmed
  5. Sasaki S, Yoshioka Y, Ko R, Katsura Y, Namba Y, Shukuya T, et al. Diagnostic significance of cerebrospinal fluid EGFR mutation analysis for leptomeningeal metastasis in non-small-cell lung cancer patients harboring an active EGFR mutation following gefitinib therapy failure. Respir Investig. 2016;54:14-9 pubmed publisher
    ..Analysis of EGFR mutations in CSF using a highly sensitive real-time PCR assay is a potentially powerful diagnostic method for LM. ..
  6. Katoh H, Nishikawa T, Kimura J, Yamauchi Y, Takabayashi S. Phenotype-based search of natural mutations related to hereditary diseases existing in a closed colony of mice. Exp Anim. 2010;59:183-90 pubmed
    ..79 had those of dwarfism and tremor. The results obtained in this study suggest that breeders need to be aware of the presence of natural mutations in their colonies. ..
  7. Harada T, Tanikawa T, Iwasaki Y, Yamada M, Imai Y, Miyake M. Phagocytic entry of Legionella pneumophila into macrophages through phosphatidylinositol 3,4,5-trisphosphate-independent pathway. Biol Pharm Bull. 2012;35:1460-8 pubmed
    ..L. pneumophila may start the modulation of host signaling cascade immediately after contact with host cells to evade the ROS-dependent bactericidal system while completing entry into macrophages. ..
  8. Matsumoto H, Jitareerat P, Baba Y, Tsuyumu S. Comparative study of regulatory mechanisms for pectinase production by Erwinia carotovora subsp. carotovora and Erwinia chrysanthemi. Mol Plant Microbe Interact. 2003;16:226-37 pubmed
    ..carotovora subsp. carotovora was not identified in this study, though these proteins of E. chrysanthemi were functional on the promoter regions of the pectinase genes of E. carotovora subsp. carotovora. ..
  9. Kosaka H, Hirayama K, Yoda N, Sasaki K, Kitayama T, Kusaka H, et al. The L-, N-, and T-type triple calcium channel blocker benidipine acts as an antagonist of mineralocorticoid receptor, a member of nuclear receptor family. Eur J Pharmacol. 2010;635:49-55 pubmed publisher
    ..These results suggested that benidipine directly inhibits aldosterone-induced mineralocorticoid receptor activation, and the antagonistic activity might contribute to the drug's pleiotropic pharmacological features. ..

More Information


  1. Serizawa M, Kusuhara M, Ohnami S, Nagashima T, Shimoda Y, Ohshima K, et al. Novel Tumor-specific Mutations in Receptor Tyrosine Kinase Subdomain IX Significantly Reduce Extracellular Signal-regulated Kinase Activity. Anticancer Res. 2016;36:2733-44 pubmed
    ..These SNVs inhibited the autophosphorylation of the respective RTKs, thereby reducing the activity of extracellular signal-regulated kinases. RTK subdomain IX is a promising target for the molecular design of kinase inhibitors. ..
  2. Yokota T, Matsumura Y, Ban N, Matsubayashi T, Inagaki N. Heterozygous ABCA3 mutation associated with non-fatal evolution of respiratory distress. Eur J Pediatr. 2008;167:691-3 pubmed
    ..Alveolar lavage with 720 mg of bovine surfactant allowed weaning from ventilator support. Heterozygous mutation in the ABCA3 gene could be associated with a milder evolution as compared to the homozygous frequently lethal evolution. ..
  3. Fujiwara T. Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies. Epilepsy Res. 2006;70 Suppl 1:S223-30 pubmed
    ..The clinical spectrum of epilepsies harboring SCN1A mutations may be consisted of various phenotypes with GEFS+ on the mildest end and SMEI on the severest end of the spectrum. ..
  4. Kuroda R, Satoh J, Yamamura T, Anezaki T, Terada T, Yamazaki K, et al. A novel compound heterozygous mutation in the DAP12 gene in a patient with Nasu-Hakola disease. J Neurol Sci. 2007;252:88-91 pubmed
    ..The protein sequence motif search indicated that both mutations encode truncated nonfunctional DAP12 polypeptides. This is the first case of NHD caused by compound heterozygosity for loss-of-function mutations in DAP12. ..
  5. Shinozaki E, Yoshino T, Yamazaki K, Muro K, Yamaguchi K, Nishina T, et al. Clinical significance of BRAF non-V600E mutations on the therapeutic effects of anti-EGFR monoclonal antibody treatment in patients with pretreated metastatic colorectal cancer: the Biomarker Research for anti-EGFR monoclonal Antibodies by Comprehens. Br J Cancer. 2017;117:1450-1458 pubmed publisher
    ..However, it is unclear whether BRAF mutations other than BRAFV600E (BRAFnon-V600E mutations) contribute to anti-EGFR antibody resistance...
  6. Yokota T. Are KRAS/BRAF mutations potent prognostic and/or predictive biomarkers in colorectal cancers?. Anticancer Agents Med Chem. 2012;12:163-71 pubmed
    ..Furthermore, the predictive role of KRAS/BRAF mutations in treatments with anti-EGFR mAb will be verified, focusing on KRAS p.G13D and BRAF mutations. ..
  7. Ono Y, Tomita K, Matsuura A, Nakagawa T, Masukata H, Uritani M, et al. A novel allele of fission yeast rad11 that causes defects in DNA repair and telomere length regulation. Nucleic Acids Res. 2003;31:7141-9 pubmed
    ..cerevisiae rfa1-D228Y mutation, the rad11-D223Y mutation itself caused telomere shortening. Moreover, Rad11-Myc bound to telomere in a ChIP assay. These results strongly suggest that RPA is directly involved in telomere maintenance. ..
  8. Ogura M. ZnuABC and ZosA zinc transporters are differently involved in competence development in Bacillus subtilis. J Biochem. 2011;150:615-25 pubmed publisher
    ..Taken together, we propose that the both ZnuABC- and ZosA-mediated zinc incorporation is involved in competence development, although the two zinc transporters are differently implicated in this developmental process...
  9. Igarashi K, Fujita N, Ishihama A. Sequence analysis of two temperature-sensitive mutations in the alpha subunit gene (rpoA) of Escherichia coli RNA polymerase. Nucleic Acids Res. 1990;18:5945-8 pubmed
  10. Saito H, Kusano K, Kinosaki M, Ito H, Hirata M, Segawa H, et al. Human fibroblast growth factor-23 mutants suppress Na+-dependent phosphate co-transport activity and 1alpha,25-dihydroxyvitamin D3 production. J Biol Chem. 2003;278:2206-11 pubmed
    ..Taken together, the FGF23 mutants reduce both phosphate uptake in intestine and phosphate reabsorption in kidney, independent of PTH action. ..
  11. Tanaka Y, Yoshikawa O, Maruhashi K, Kurane R. The cbs mutant strain of Rhodococcus erythropolis KA2-5-1 expresses high levels of Dsz enzymes in the presence of sulfate. Arch Microbiol. 2002;178:351-7 pubmed
    ..The cbs mutants also expressed high levels of Dsz enzymes when methionine was used as the sole source of sulfur. ..
  12. Ishihama A, Fujita N, Glass R. Subunit assembly and metabolic stability of E. coli RNA polymerase. Proteins. 1987;2:42-53 pubmed
    ..coli mutants with a defect in the assembly of RNA polymerase and the stationary-phase cells of a wild-type E. coli. The in vivo degradation of RNA polymerase was indicated to be initiated by alteration of the enzyme structure. ..
  13. Kamada K, Horiuchi T, Ohsumi K, Shimamoto N, Morikawa K. Structure of a replication-terminator protein complexed with DNA. Nature. 1996;383:598-603 pubmed
    ..The unusual structural features of this complex may explain how the replication fork is halted in only one direction. ..
  14. Shiojiri N, Sano M, Inujima S, Nitou M, Kanazawa M, Mori M. Quantitative analysis of cell allocation during liver development, using the spf(ash)-heterozygous female mouse. Am J Pathol. 2000;156:65-75 pubmed
  15. Ono K, Ohtomo T, Sato S, Sugamata Y, Suzuki M, Hisamoto N, et al. An evolutionarily conserved motif in the TAB1 C-terminal region is necessary for interaction with and activation of TAK1 MAPKKK. J Biol Chem. 2001;276:24396-400 pubmed
    ..These results suggest that the Phe or Ala residue within the conserved motif of the TAB1-related proteins is important for interaction with and activation of specific TAK1 MAPKKK family members in vivo. ..
  16. Tomita K, Matsuura A, Caspari T, Carr A, Akamatsu Y, Iwasaki H, et al. Competition between the Rad50 complex and the Ku heterodimer reveals a role for Exo1 in processing double-strand breaks but not telomeres. Mol Cell Biol. 2003;23:5186-97 pubmed
    ..While we have identified Exo1 as the alternative nuclease targeting DNA break sites, the identity of the nuclease acting on the telomere ends remains elusive. ..
  17. Tobisawa Y, Maruyama T, Tanikawa T, Nakanishi K, Kurohane K, Imai Y. Establishment of recombinant hybrid-IgG/IgA immunoglobulin specific for Shiga toxin. Scand J Immunol. 2011;74:574-84 pubmed publisher
    ..These results indicate that the replacement of variable regions resulted in the production of more useful recombinant dimeric IgA against Stx1B. ..
  18. Terada T. Protein expression and gene mutation status of KIT and PDGFRA in renal cell carcinoma. Histol Histopathol. 2012;27:297-302 pubmed publisher
  19. Ohnishi T, Godza B, Watanabe B, Fujioka S, Hategan L, Ide K, et al. CYP90A1/CPD, a brassinosteroid biosynthetic cytochrome P450 of Arabidopsis, catalyzes C-3 oxidation. J Biol Chem. 2012;287:31551-60 pubmed publisher
    ..Enzyme kinetic data of CYP90A1/CPD and DET2, together with those of the earlier studied CYP90B1, CYP90C1, and CYP90D1, suggest that BR biosynthesis proceeds mainly via the campestanol-independent pathway. ..
  20. Furuya K, Niki H. Isolation of heterothallic haploid and auxotrophic mutants of Schizosaccharomyces japonicus. Yeast. 2009;26:221-33 pubmed publisher
  21. Shinmura K, Goto M, Tao H, Matsuura S, Matsuda T, Sugimura H. Impaired suppressive activities of human MUTYH variant proteins against oxidative mutagenesis. World J Gastroenterol. 2012;18:6935-42 pubmed publisher
    ..The suppressive activities of p.R154H, p.M255V, p.L360P, and p.P377L MUTYH variants against mutations caused by 8OHG are thought to be severely impaired in human cells. ..
  22. Yamamoto R, Obbineni J, Alford L, Ide T, Owa M, Hwang J, et al. Chlamydomonas DYX1C1/PF23 is essential for axonemal assembly and proper morphology of inner dynein arms. PLoS Genet. 2017;13:e1006996 pubmed publisher
    ..The role of PF23/DYX1C1 remains unknown, but we suggest that DYX1C1 could provide a scaffold for macromolecular assembly. ..
  23. Serizawa M, Koh Y, Kenmotsu H, Isaka M, Murakami H, Akamatsu H, et al. Assessment of mutational profile of Japanese lung adenocarcinoma patients by multitarget assays: a prospective, single-institute study. Cancer. 2014;120:1471-81 pubmed publisher
    ..This study reports the frequency of driver genetic alterations in Japanese lung adenocarcinoma patients, and clinicopathologic correlations with each genotype...
  24. Imanishi T, Gojobori T. Patterns of nucleotide substitutions inferred from the phylogenies of the class I major histocompatibility complex genes. J Mol Evol. 1992;35:196-204 pubmed
    ..Our observations imply that the ARS region is subject to natural selection favoring amino acid replacements, whereas the non-ARS region is subject to functional constraint. ..
  25. Yamamoto T, Shimojima K, Yano T, Ueda Y, Takayama R, Ikeda H, et al. Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy. Brain Dev. 2016;38:280-4 pubmed publisher
    ..The four patients showed epileptic features consistent with STXBP1-related epileptic encephalopathy, but showed variable radiological findings, including brain volume loss and myelination delay. ..
  26. Uritani M, Hidaka H, Hotta Y, Ueno M, Ushimaru T, Toda T. Fission yeast Tor2 links nitrogen signals to cell proliferation and acts downstream of the Rheb GTPase. Genes Cells. 2006;11:1367-79 pubmed
    ..We propose that Tor1 and Tor2 are involved in both corroborative and independent roles in nutrient sensing and stress response pathways. ..
  27. Inoue Y, Suzuki T, Hattori M, Yoshimoto K, Ohsumi Y, Moriyasu Y. AtATG genes, homologs of yeast autophagy genes, are involved in constitutive autophagy in Arabidopsis root tip cells. Plant Cell Physiol. 2006;47:1641-52 pubmed
    ..Autophagy that is sensitive to 3-methyladenine and dependent on Atg proteins constitutively occurs in the root tip cells of Arabidopsis. ..
  28. Sakai H. Possible structure and function of the extra C-terminal sequence of pyruvate kinase from Bacillus stearothermophilus. J Biochem. 2004;136:471-6 pubmed
    ..These findings suggest that the sequence actually exists and that it may form a steady domain interacting with the A-domain and C-domain, which are the catalytic domain and allosteric effector binding domain, respectively...
  29. Shimane K, Ogura M. Mutational analysis of the helix-turn-helix region of Bacillus subtilis response regulator DegU, and identification of cis-acting sequences for DegU in the aprE and comK promoters. J Biochem. 2004;136:387-97 pubmed
    ..Based on these results, it was concluded that DegU would function through the inverted repeat in the comK promoter and the tandem repeat in the aprE promoter. ..
  30. Tomita K, Kibe T, Kang H, Seo Y, Uritani M, Ushimaru T, et al. Fission yeast Dna2 is required for generation of the telomeric single-strand overhang. Mol Cell Biol. 2004;24:9557-67 pubmed
    ..Our results reveal that DSB ends and telomere ends are processed by different mechanisms. ..
  31. Sasanami T, Hanafy A, Toriyama M, Mori M. Variant of perivitelline membrane glycoprotein ZPC of Japanese quail (Coturnix japonica) lacking its cytoplasmic tail exhibits the retention in the endoplasmic reticulum of Chinese hamster ovary (CHO-K1) cells. Biol Reprod. 2003;69:1401-7 pubmed
    ..These results indicate that the cytoplasmic tail of quail ZPC might possess the determinant responsible for the efficient transport of the newly synthesized ZPC from the endoplasmic reticulum to the Golgi apparatus...
  32. Kibe T, Tomita K, Matsuura A, Izawa D, Kodaira T, Ushimaru T, et al. Fission yeast Rhp51 is required for the maintenance of telomere structure in the absence of the Ku heterodimer. Nucleic Acids Res. 2003;31:5054-63 pubmed
    ..Our results suggest that, although Ku heterodimer sequesters Rhp51 from telomere ends to inhibit homologous recombination activity, Rhp51 plays important roles for the maintenance of telomere ends in the absence of the Ku heterodimer. ..
  33. Oda T, Hirabayashi H, Shikauchi G, Takamura R, Hiraga K, Minami H, et al. Structural basis of autoinhibition and activation of the DNA-targeting ADP-ribosyltransferase pierisin-1. J Biol Chem. 2017;292:15445-15455 pubmed publisher
    ..Our study provides a structural basis for the DNA-acceptor specificity of pierisin-1 and reveals that a self-regulatory mechanism is required for its activity. ..
  34. Motohashi R, Rödiger A, Agne B, Baerenfaller K, Baginsky S. Common and specific protein accumulation patterns in different albino/pale-green mutants reveals regulon organization at the proteome level. Plant Physiol. 2012;160:2189-201 pubmed publisher
    ..Our analysis provides initial guidance for the distinction between general and specific adaptations of the proteome in photosynthesis-impaired plants. ..
  35. Shimizu Y, Nagai M, Yeasmin A, Koike N, Talukdar M, Ushimaru T. Elucidation of novel budding yeast separase mutants. Biosci Biotechnol Biochem. 2016;80:473-8 pubmed publisher
    ..The Drosophila Pumilio homolog MPT5 was isolated as a high-dosage suppressor of esp1-ts cells. We discuss various features of separase based on these findings. ..
  36. Abe T, Morita H, Noma H, Kohno T, Noguchi H, Abe I. Structure function analysis of benzalacetone synthase from Rheum palmatum. Bioorg Med Chem Lett. 2007;17:3161-6 pubmed
    ..Instead, homology modeling suggested a possibility that, unlike the case of CHS, BAS utilizes an alternative pocket to lock the coumaroyl moiety for the diketide formation reaction...
  37. Ikari A, Sanada A, Okude C, Sawada H, Yamazaki Y, Sugatani J, et al. Up-regulation of TRPM6 transcriptional activity by AP-1 in renal epithelial cells. J Cell Physiol. 2010;222:481-7 pubmed publisher
    ..These results suggest that EGF up-regulates TRPM6 mRNA expression mediate via the activation of ERK/AP-1-dependent pathway. ..
  38. Ikari A, Kinjo K, Atomi K, Sasaki Y, Yamazaki Y, Sugatani J. Extracellular Mg(2+) regulates the tight junctional localization of claudin-16 mediated by ERK-dependent phosphorylation. Biochim Biophys Acta. 2010;1798:415-21 pubmed publisher
    ..We suggest that the tight junctional localization of claudin-16 requires a physiological Mg(2+) concentration and the phosphorylation of threonine residues via a MEK/ERK-dependent pathway. ..
  39. Takahashi T, Hashimoto A, Maruyama M, Ishida H, Kiso M, Kawaoka Y, et al. Identification of amino acid residues of influenza A virus H3 HA contributing to the recognition of molecular species of sialic acid. FEBS Lett. 2009;583:3171-4 pubmed publisher
    ..We evaluated the binding ability with four types of synthetic sialylglycolipids. The results indicate that the amino acid substitutions Thr155 to Tyr and Glu158 to Gly in H3 HA facilitate virus binding to N-glycolylneuraminic acid. ..
  40. Park E, Zhang J, Tajima S, Dwiarti L. Isolation of Ashbya gossypii mutant for an improved riboflavin production targeting for biorefinery technology. J Appl Microbiol. 2007;103:468-76 pubmed
    ..To isolate a strain overproducing riboflavin and to improve riboflavin production for practical use in a biorefinery technology...
  41. Ikari A, Ito M, Okude C, Sawada H, Harada H, Degawa M, et al. Claudin-16 is directly phosphorylated by protein kinase A independently of a vasodilator-stimulated phosphoprotein-mediated pathway. J Cell Physiol. 2008;214:221-9 pubmed
    ..We suggest that PKA directly phosphorylates CLDN-16, resulting in the localization to tight junctions (TJs) and the maintenance of Mg(2+) reabsorption. ..
  42. Niwa Y, Kato T, Tabata S, Seki M, Kobayashi M, Shinozaki K, et al. Disposal of chloroplasts with abnormal function into the vacuole in Arabidopsis thaliana cotyledon cells. Protoplasma. 2004;223:229-32 pubmed
    ..These results may indicate that under nutrient-sufficient conditions, plant cells remove abnormal plastids by autophagy and that this mechanism is involved in the quality control of organelles. ..
  43. Ueno M, Nakazaki T, Akamatsu Y, Watanabe K, Tomita K, Lindsay H, et al. Molecular characterization of the Schizosaccharomyces pombe nbs1+ gene involved in DNA repair and telomere maintenance. Mol Cell Biol. 2003;23:6553-63 pubmed
    ..Therefore, S. pombe Nbs1 will provide an additional model system for studying the molecular function of the MRN complex associated with genetic diseases. ..
  44. Niwa T, Mochii M, Nakamura A, Shiojiri N. Plumage pigmentation and expression of its regulatory genes during quail development--histochemical analysis using Bh (black at hatch) mutants. Mech Dev. 2002;118:139-46 pubmed
    ..These results indicate that MelEM antigen is a good marker for melanoblasts committed to produce black pigment, and suggests that the Bh locus directs melanocytes to produce eumelanin in proper positions...
  45. Nakashima A, Yoshida M, Nakayama K, Kato Furuno A, Ueno M, Ushimaru T, et al. Genes for a nuclease and a protease are involved in the drastic decrease in cellular RNA amount in fission yeast cells during nitrogen starvation. J Biochem. 2002;131:391-8 pubmed
  46. Nishiyama K, Funai T, Katafuchi R, Hattori F, Onoyama K, Ichiyama A. Primary hyperoxaluria type I due to a point mutation of T to C in the coding region of the serine:pyruvate aminotransferase gene. Biochem Biophys Res Commun. 1991;176:1093-9 pubmed
    ..SmaI digestion of genomic DNA may be useful for the diagnostic gene analysis of this type of PH1. ..
  47. Kaira K, Horie Y, Ayabe E, Murakami H, Takahashi T, Tsuya A, et al. Pulmonary pleomorphic carcinoma: a clinicopathological study including EGFR mutation analysis. J Thorac Oncol. 2010;5:460-5 pubmed publisher
    ..EGFR mutation was recognized in approximately 20% of patients with pulmonary pleomorphic carcinoma. It is necessary to investigate whether the use of a molecular targeting drug improves outcome for pulmonary pleomorphic carcinoma. ..
  48. Sugimoto M, Nishino M, Kodaira C, Yamade M, Ikuma M, Tanaka T, et al. Esophageal mucosal injury with low-dose aspirin and its prevention by rabeprazole. J Clin Pharmacol. 2010;50:320-30 pubmed publisher
    ..Aspirin induces esophageal mucosal injury in an acid-dependent manner. Concomitant proton-pump inhibitor therapy may prevent advanced effects of low-dose aspirin. ..
  49. Prasetyo J, Sumita S, Okuda N, Park E. Response of cellulase activity in pH-controlled cultures of the filamentous fungus Acremonium cellulolyticus. Appl Biochem Biotechnol. 2010;162:52-61 pubmed publisher
    ..cellulolyticus enzymes were suitable for converting cellulolytic biomass to reducing sugars for biomass ethanol production. This study is a step toward the establishment of an efficient system to reutilize cellulolytic biomass...
  50. Ogura M, Tsukahara K, Hayashi K, Tanaka T. The Bacillus subtilis NatK-NatR two-component system regulates expression of the natAB operon encoding an ABC transporter for sodium ion extrusion. Microbiology. 2007;153:667-75 pubmed
    ..Deleted and mutagenized promoter regions of natA were analysed using a lacZ fusion, and it was confirmed that the direct repeat is critical for natA activation by NatR...
  51. Kamada N, Kodama T, Suzuki H. Macrophage scavenger receptor (SR-A I/II) deficiency reduced diet-induced atherosclerosis in C57BL/6J mice. J Atheroscler Thromb. 2001;8:1-6 pubmed
    ..These results indicate that SR-A I/II has a crucial role in atherosclerotic lesion formation with uptake of oxidized-LDL in this mouse model. ..