Experts and Doctors on mutation in Japan

Summary

Locale: Japan
Topic: mutation

Top Publications

  1. Takagi M, Ishii T, Inokuchi M, Amano N, Narumi S, Asakura Y, et al. Gradual loss of ACTH due to a novel mutation in LHX4: comprehensive mutation screening in Japanese patients with congenital hypopituitarism. PLoS ONE. 2012;7:e46008 pubmed publisher
    ..3%. This study is the first to describe, a gradual loss of ACTH in a patient carrying an LHX4 mutation. Careful monitoring of hypothalamic-pituitary -adrenal function is recommended for CH patients with LHX4 mutations. ..
  2. Kenri T, Kohno K, Goshima N, Imamoto F, Kano Y. Construction and characterization of an Escherichia coli mutant with a deletion of the metZ gene encoding tRNA (f1Met). Gene. 1991;103:31-6 pubmed
    ..coli and that the start codons, AUG and GUG, are both recognized by tRNA (f1Met), a minor N-formyl methionine-specific tRNA, in the tRNA (f1Met)-depleted cells. ..
  3. Fujisaki S, Nishino T, Katsuki H, Hara H, Nishimura Y, Hirota Y. Isolation and characterization of an Escherichia coli mutant having temperature-sensitive farnesyl diphosphate synthase. J Bacteriol. 1989;171:5654-8 pubmed
    ..The polyprenyl phosphate level was slightly higher in the mutant than in the wild-type strain at 30 degrees C and almost the same in both strains at 42 degrees C. The mutant had no obvious phenotype regarding its growth properties. ..
  4. Kuki M, Noumi T, Maeda M, Amemura A, Futai M. Functional domains of epsilon subunit of Escherichia coli H+-ATPase (F0F1). J Biol Chem. 1988;263:17437-42 pubmed
  5. Kakinuma Y, Maruyama T, Nozaki T, Wada Y, Ohsumi Y, Igarashi K. Cloning of the gene encoding a putative serine/threonine protein kinase which enhances spermine uptake in Saccharomyces cerevisiae. Biochem Biophys Res Commun. 1995;216:985-92 pubmed
    ..The results suggest that spermine uptake by this organism is probably regulated by phosphorylation and dephosphorylation. ..
  6. Nagata S. Mutations in the Fas antigen gene in lpr mice. Semin Immunol. 1994;6:3-8 pubmed
    ..In the other allele (lprcg), a point mutation in the signal transducing domain of the cytoplasmic region abolishes the function of the Fas antigen. ..
  7. Murata T, Matsumoto A, Tomioka K, Chiba Y. Ritsu: a rhythm mutant from a natural population of Drosophila melanogaster. J Neurogenet. 1995;9:239-49 pubmed
    ..Furthermore, the result of recombination analysis suggested that the locus might be near or to the left of cl (2-18.8). ..
  8. Sakamoto J, Matsumoto A, Oobuchi K, Sone N. Cytochrome bd-type quinol oxidase in a mutant of Bacillus stearothermophilus deficient in caa3-type cytochrome c oxidase. FEMS Microbiol Lett. 1996;143:151-8 pubmed
    ..This is the first report of a bd-type terminal oxidase purified from a Gram-positive bacterium. ..
  9. Yamashita A, Watanabe Y, Yamamoto M. Microtubule-associated coiled-coil protein Ssm4 is involved in the meiotic development in fission yeast. Genes Cells. 1997;2:155-66 pubmed
    ..Ssm4 is a microtubule-colocalizing protein that plays a role specifically in meiosis. Ssm4 appears to modify the structure or the function of nuclear microtubules in order to promote the meiotic nuclear division. ..

More Information

Publications526 found, 100 shown here

  1. Takahashi H, Inada T, Postma P, Aiba H. CRP down-regulates adenylate cyclase activity by reducing the level of phosphorylated IIA(Glc), the glucose-specific phosphotransferase protein, in Escherichia coli. Mol Gen Genet. 1998;259:317-26 pubmed
    ..The data suggest that unspecified proteins whose expression is under the control of CRP-cAMP are responsible for this regulation. ..
  2. Tanaka K. [Molecular biology of ovarian cancer]. Gan To Kagaku Ryoho. 1999;26:2162-7 pubmed
    ..Among the genes searched to date for abnormalities related to ovarian cancer, BRCA1 is thought to be the most likely candidate for having a causal relation with the familial ovarian cancer syndrome. ..
  3. Jin Y, Nonoyama S, Morio T, Imai K, Ochs H, Mizutani S. Characterization of soluble CD40 ligand released from human activated platelets. J Med Dent Sci. 2001;48:23-7 pubmed
  4. Tachibana M, Kobayashi Y, Matsushima Y. Mouse models for four types of Waardenburg syndrome. Pigment Cell Res. 2003;16:448-54 pubmed
    ..The influence of genetic background on the phenotypes of mice mutated in homologs of WS genes is also addressed. Finally, possible interactions among the six WS gene products are discussed. ..
  5. Mukaihara T, Tamura N, Murata Y, Iwabuchi M. Genetic screening of Hrp type III-related pathogenicity genes controlled by the HrpB transcriptional activator in Ralstonia solanacearum. Mol Microbiol. 2004;54:863-75 pubmed publisher
    ..We show that a hpaB null mutant still produces Hrp pili on the cell surface although it shows a typical Hrp-defective phenotype on plants...
  6. Kobae Y, Sekino T, Yoshioka H, Nakagawa T, Martinoia E, Maeshima M. Loss of AtPDR8, a plasma membrane ABC transporter of Arabidopsis thaliana, causes hypersensitive cell death upon pathogen infection. Plant Cell Physiol. 2006;47:309-18 pubmed
    ..Our results indicate that AtPDR8 is a key factor controlling the extent of cell death in the defense response and suggest that AtPDR8 transports some substance(s) which is closely related to the response of plants to pathogens...
  7. Harada N, Oda Z, Hara Y, Fujinami K, Okawa M, Ohbuchi K, et al. Hepatic de novo lipogenesis is present in liver-specific ACC1-deficient mice. Mol Cell Biol. 2007;27:1881-8 pubmed
    ..Therefore, there does not appear to be strict compartmentalization of malonyl-CoA from either of the ACC isozymes in the liver. ..
  8. Yoshida H, Nishi N, Nakakita S, Kamitori S. Crystallization and preliminary X-ray diffraction analysis of a protease-resistant mutant form of human galectin-8. Acta Crystallogr Sect F Struct Biol Cryst Commun. 2009;65:512-4 pubmed publisher
    ..93, b = 78.93, c = 132.05 A. Diffraction data were collected to a resolution of 3.4 A. ..
  9. Koizumi H, Hashimoto M, Fujiwara M, Murakoshi H, Chikata T, Borghan M, et al. Different in vivo effects of HIV-1 immunodominant epitope-specific cytotoxic T lymphocytes on selection of escape mutant viruses. J Virol. 2010;84:5508-19 pubmed publisher
    ..These results suggest that escape mutations are selected by HIV-1-specific CTLs that have a stronger ability to recognize HIV-1 in vivo but not in vitro...
  10. Ohnishi S, Saito H, Suzuki N, Ma N, Hiraku Y, Murata M, et al. Nitrative and oxidative DNA damage caused by K-ras mutation in mice. Biochem Biophys Res Commun. 2011;413:236-40 pubmed publisher
    ..It is noteworthy that K-ras mutation mediates not only cell over-proliferation but also the accumulation of mutagenic DNA lesions, leading to carcinogenesis. ..
  11. Takase M, Mizoguchi T, Kozuka T, Tsukaya H. The unique function of the Arabidopsis circadian clock gene PRR5 in the regulation of shade avoidance response. Plant Signal Behav. 2013;8:e23534 pubmed publisher
    ..A.R-related genes suggested that PRR5 functions as a repressor of S.A.R. Morphological analyses of leaves under different light condition revealed that PRR5 is involved in the inhibition of leaf expansion in S.A.R. ..
  12. Sako K, Kim J, Matsui A, Nakamura K, Tanaka M, Kobayashi M, et al. Ky-2, a Histone Deacetylase Inhibitor, Enhances High-Salinity Stress Tolerance in Arabidopsis thaliana. Plant Cell Physiol. 2016;57:776-83 pubmed publisher
    ..Moreover, Ky-2 treatment decreased the intracellular Na(+)accumulation under salinity stress, suggesting that enhancement of SOS1-dependent Na(+)efflux contributes to increased high-salinity stress tolerance caused by Ky-2 treatment. ..
  13. Takenaka T, Yamazaki K, Miura N, Mori R, Matsumoto R, Momosaki S, et al. Second Primary Lung Adenocarcinoma Harboring EML4-ALK After Surgically Resected EGFR Positive Lung Adenocarcinoma. Clin Lung Cancer. 2016;17:e13-5 pubmed publisher
  14. Ogihara Y, Terachi T, Sasakuma T. Molecular analysis of the hot spot region related to length mutations in wheat chloroplast DNAs. I. Nucleotide divergence of genes and intergenic spacer regions located in the hot spot region. Genetics. 1991;129:873-84 pubmed
    ..The divergence of wheat from barley, and that from rice are estimated based on the nucleotide similarity to be 1.5, 10 and 40 million years, respectively...
  15. Ichikawa N, Yoshida Y, Hashimoto T, Ogasawara N, Yoshikawa H, Imamoto F, et al. Activation of ATP hydrolysis by an uncoupler in mutant mitochondria lacking an intrinsic ATPase inhibitor in yeast. J Biol Chem. 1990;265:6274-8 pubmed
    ..These observations suggest that the ATPase inhibitor inhibits ATP hydrolysis by F1F0-ATPase only when the membrane potential is lost. ..
  16. An H, Mogami K. Isolation of 88F actin mutants of Drosophila melanogaster and possible alterations in the mutant actin structures. J Mol Biol. 1996;260:492-505 pubmed
    ..On the basis of these phenotypes and the known atomic structure of actin, possible alterations in the structure of actin brought about by these mutations are discussed. ..
  17. Ando H, Kitabatake M, Inokuchi H. 10Sa RNA complements the temperature-sensitive phenotype caused by a mutation in the phosphoribosyl pyrophosphate synthetase (prs) gene in Escherichia coli. Genes Genet Syst. 1996;71:47-50 pubmed
    ..That such a mutant exists suggests that 10Sa RNA associate with the prs gene product in a functional way. ..
  18. Iwakabe H, Katsuura G, Ishibashi C, Nakanishi S. Impairment of pupillary responses and optokinetic nystagmus in the mGluR6-deficient mouse. Neuropharmacology. 1997;36:135-43 pubmed
    ..This study thus demonstrates that mGluR6 contributes to discrimination of visual contrasts. ..
  19. Igakura T, Kadomatsu K, Kaname T, Muramatsu H, Fan Q, Miyauchi T, et al. A null mutation in basigin, an immunoglobulin superfamily member, indicates its important roles in peri-implantation development and spermatogenesis. Dev Biol. 1998;194:152-65 pubmed
    ..In conclusion, basigin is an important cell-surface molecule involved in early embryogenesis and reproduction. ..
  20. Nakano H, Yamada Y, Ishikura H, Inokuchi H. A mutation in the gene for trigger factor suppresses the defect in cell division in the divE42 mutant of Escherichia coli K12. Mol Gen Genet. 1998;260:75-80 pubmed
    ..A model is proposed that accounts for the phenotypes of the divE42 mutant and the TR4 suppressor mutant. ..
  21. Yamada T, Tachibana A, Shimizu T, Mugishima H, Okubo M, Sasaki M. Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia. J Hum Genet. 2000;45:159-66 pubmed
    ..Collectively, 14 of the 20 unclassified Japanese FA patients belong to the FA-A group, 2 belong to the FA-G group, and none belongs to the FA-C group. ..
  22. Abraham E, Sezutsu H, Kanda T, Sugasaki T, Shimada T, Tamura T. Identification and characterisation of a silkworm ABC transporter gene homologous to Drosophila white. Mol Gen Genet. 2000;264:11-9 pubmed
    ..The level of Bmwh3 mRNA was reduced in w3 and w3ol mutants but normal in other egg- and eye-colour mutants, suggesting that Bmwh3 correspond to the w3 locus. Genetic analysis was used to map the cloned gene to chromosome 10...
  23. Ki S, Kasahara K, Kwon H, Ishigami K, Kitahara T, Beppu T, et al. Radicicol binding to Swo1/Hsp90 and inhibition of growth of specific temperature-sensitive cell cycle mutants of fission yeast. Biosci Biotechnol Biochem. 2001;65:2528-34 pubmed
    ..These results suggest that Swo1, as a molecular chaperone, plays a role in stabilizing these temperature-sensitive proteins at the permissive temperature or in activating the cytokinesis signaling cascade. ..
  24. Shimokata H, Ando F, Niino N, Miyasaka K, Funakoshi A. Cholecystokinin A receptor gene promoter polymorphism and intelligence. Ann Epidemiol. 2005;15:196-201 pubmed
    ..IQ significantly decreased with an increasing number of mutation alleles (p=0.018). There were statistically significant differences in IQ for CCKAR gene promoter polymorphisms A-81G and G-128T in community-living Japanese. ..
  25. Tabata A, Yamamoto I, Matsuzaki M, Satoh T. Differential regulation of periplasmic nitrate reductase gene (napKEFDABC) expression between aerobiosis and anaerobiosis with nitrate in a denitrifying phototroph Rhodobacter sphaeroides f. sp. denitrificans. Arch Microbiol. 2005;184:108-16 pubmed
  26. Horigome C, Okada T, Matsuki K, Mizuta K. A ribosome assembly factor Ebp2p, the yeast homolog of EBNA1-binding protein 2, is involved in the secretory response. Biosci Biotechnol Biochem. 2008;72:1080-6 pubmed
    ..These results suggest that Ebp2p is implicated in the secretory response, including changes in nucleolar architecture. ..
  27. Ito S, Kawamura H, Niwa Y, Nakamichi N, Yamashino T, Mizuno T. A genetic study of the Arabidopsis circadian clock with reference to the TIMING OF CAB EXPRESSION 1 (TOC1) gene. Plant Cell Physiol. 2009;50:290-303 pubmed publisher
    ..Therefore, we speculate that an as yet undefined oscillator (or loop) continues to generate rhythms within the plants lacking GI/TOC1 or PRR9/PRR7/TOC1. ..
  28. Salem A, Nakano T, Takuwa M, Matoba N, Tsuboi T, Terato H, et al. Genetic analysis of repair and damage tolerance mechanisms for DNA-protein cross-links in Escherichia coli. J Bacteriol. 2009;191:5657-68 pubmed publisher
    ..Finally, DNA glycosylases mitigate azaC toxicity, independently of the repair of DPCs, presumably by removing 5-azacytosine or its degradation product from the chromosome. ..
  29. Sasagawa Y, Otani M, Higashitani N, Higashitani A, Sato K, Ogura T, et al. Caenorhabditis elegans p97 controls germline-specific sex determination by controlling the TRA-1 level in a CUL-2-dependent manner. J Cell Sci. 2009;122:3663-72 pubmed publisher
    ..Our results demonstrate that the C. elegans p97/CDC-48-UFD-1-NPL-4 complex controls the sperm-oocyte switch by regulating CUL-2-mediated TRA-1A proteasome degradation. ..
  30. Lertwattanasakul N, Shigemoto E, Rodrussamee N, Limtong S, Thanonkeo P, Yamada M. The crucial role of alcohol dehydrogenase Adh3 in Kluyveromyces marxianus mitochondrial metabolism. Biosci Biotechnol Biochem. 2009;73:2720-6 pubmed
    ..Adh3 might thus play a crucial role in the control of the NADH/NAD(+) balance in mitochondria...
  31. Obana N, Shirahama Y, Abe K, Nakamura K. Stabilization of Clostridium perfringens collagenase mRNA by VR-RNA-dependent cleavage in 5' leader sequence. Mol Microbiol. 2010;77:1416-28 pubmed publisher
    ..These results show that VR-RNA base pairs with colA mRNA and induces cleavage in the 5' untranslated region (UTR) of colA mRNA, which leads to the stabilization of colA mRNA and the activation of colA expression. ..
  32. Mochizuki K, Kondo T, Nakazawa T, Iwashina M, Kawasaki T, Nakamura N, et al. RET rearrangements and BRAF mutation in undifferentiated thyroid carcinomas having papillary carcinoma components. Histopathology. 2010;57:444-50 pubmed publisher
  33. Someya T, Baba S, Fujimoto M, Kawai G, Kumasaka T, Nakamura K. Crystal structure of Hfq from Bacillus subtilis in complex with SELEX-derived RNA aptamer: insight into RNA-binding properties of bacterial Hfq. Nucleic Acids Res. 2012;40:1856-67 pubmed publisher
    ..These findings provide novel insight into how the Hfq homologue recognizes RNA. ..
  34. Muto T, Miyoshi K, Horiguchi T, Hagita H, Noma T. Novel genetic linkage of rat Sp6 mutation to Amelogenesis imperfecta. Orphanet J Rare Dis. 2012;7:34 pubmed publisher
    ..Furthermore, tight regulation of the temporospatial expression of SP6 may have critical roles in completing amelogenesis. ..
  35. Hashizume O, Shimizu A, Yokota M, Sugiyama A, Nakada K, Miyoshi H, et al. Specific mitochondrial DNA mutation in mice regulates diabetes and lymphoma development. Proc Natl Acad Sci U S A. 2012;109:10528-33 pubmed publisher
  36. Matsushita H, Sato Y, Karasaki T, Nakagawa T, Kume H, Ogawa S, et al. Neoantigen Load, Antigen Presentation Machinery, and Immune Signatures Determine Prognosis in Clear Cell Renal Cell Carcinoma. Cancer Immunol Res. 2016;4:463-71 pubmed publisher
    ..Blockade of these molecular pathways could be combined with immunotherapies targeting neoantigens to achieve synergistic antitumor activity. Cancer Immunol Res; 4(5); 463-71. ©2016 AACR. ..
  37. Matsui I, Ishikawa K, Miyairi S, Fukui S, Honda K. A mutant alpha-amylase with enhanced activity specific for short substrates. FEBS Lett. 1992;310:216-8 pubmed
  38. Date T, Yamamoto S, Tanihara K, Nishimoto Y, Liu N, Matsukage A. Site-directed mutagenesis of recombinant rat DNA polymerase beta: involvement of arginine-183 in primer recognition. Biochemistry. 1990;29:5027-34 pubmed
    ..Therefore, it is concluded that Arg-183 occupies an important part of the primer recognition site of DNA polymerase beta. ..
  39. Inaba K, Kuroda T, Shimamoto T, Kayahara T, Tsuda M, Tsuchiya T. Lithium toxicity and Na+(Li+)/H+ antiporter in Escherichia coli. Biol Pharm Bull. 1994;17:395-8 pubmed
    ..6 M LiCl, a mutant lacking the NhaA system did not. This second mutant grew in the presence of 0.1 to 0.2 M LiCl. A mutant lacking both the NhaA and NhaB systems could not grow in the presence of 30 mM LiCl. ..
  40. Meno C, Saijoh Y, Fujii H, Ikeda M, Yokoyama T, Yokoyama M, et al. Left-right asymmetric expression of the TGF beta-family member lefty in mouse embryos. Nature. 1996;381:151-5 pubmed
    ..These results suggest that lefty may be involved in setting up L-R asymmetry in the organ systems of mammals. ..
  41. Daimon M, Gojyou E, Sugawara M, Yamatani K, Tominaga M, Sasaki H. A novel missense mutation in exon 4 of the human coproporphyrinogen oxidase gene in two patients with hereditary coproporphyria. Hum Genet. 1997;99:199-201 pubmed
    ..This mutation results in a glycine to arginine substitution at amino acid 180. Two carriers in the family were successfully diagnosed by detecting the mutation using restriction analysis of the PCR products. ..
  42. Nakayama S, Kaiser K, Aigaki T. Ectopic expression of sex-peptide in a variety of tissues in Drosophila females using the P[GAL4] enhancer-trap system. Mol Gen Genet. 1997;254:449-55 pubmed
    ..Western blot analysis of head, thorax, and abdominal extracts revealed that the biological activity was correlated with expression in the head fraction. ..
  43. Momma K, Okamoto M, Mishima Y, Mori S, Hashimoto W, Murata K. A novel bacterial ATP-binding cassette transporter system that allows uptake of macromolecules. J Bacteriol. 2000;182:3998-4004 pubmed
    ..Based on these results, we propose the occurrence of a novel pit-dependent ABC transporter system that allows the uptake of macromolecules...
  44. Kimura S, Okabayashi Y, Inushima K, Yutsudo Y, Kasuga M. Polymorphism of cystic fibrosis gene in Japanese patients with chronic pancreatitis. Dig Dis Sci. 2000;45:2007-12 pubmed
    ..Therefore, the present study indicates the association of polymorphism of the polythymidine tract in intron 8 of the CFTR gene with chronic pancreatitis in Japanese patients. ..
  45. Hamada H, Meno C, Watanabe D, Saijoh Y. Establishment of vertebrate left-right asymmetry. Nat Rev Genet. 2002;3:103-13 pubmed
    ..Although the initial mechanism of symmetry breaking remains unknown, developmental biologists are beginning to analyse the pathway that leads to left-right asymmetry establishment and maintenance. ..
  46. Nishizaki T. N-glycosylation sites on the nicotinic ACh receptor subunits regulate receptor channel desensitization and conductance. Brain Res Mol Brain Res. 2003;114:172-6 pubmed
    ..Mean opening time of single-channel currents was little affected by the mutation. N-glycosylation sites, thus, appear to play a role in the regulation of ACh receptor desensitization and ion permeability. ..
  47. Osakabe Y, Maruyama K, Seki M, Satou M, Shinozaki K, Yamaguchi Shinozaki K. Leucine-rich repeat receptor-like kinase1 is a key membrane-bound regulator of abscisic acid early signaling in Arabidopsis. Plant Cell. 2005;17:1105-19 pubmed
    ..RPK1 is involved in the main ABA signaling pathway and in early ABA perception in Arabidopsis. ..
  48. Ashida H, Maeda Y, Kinoshita T. DPM1, the catalytic subunit of dolichol-phosphate mannose synthase, is tethered to and stabilized on the endoplasmic reticulum membrane by DPM3. J Biol Chem. 2006;281:896-904 pubmed
    ..Free DPM1 was strongly associated with the C terminus of Hsc70-interacting protein (CHIP), a chaperone-dependent E3 ubiquitin ligase, suggesting that DPM1 is ubiquitinated, at least in part, by CHIP. ..
  49. Taniura H, Sanada N, Kuramoto N, Yoneda Y. A metabotropic glutamate receptor family gene in Dictyostelium discoideum. J Biol Chem. 2006;281:12336-43 pubmed
    ..Our findings suggest the involvement of DdmGluPR in the early development of Dictyostelium discoideum. ..
  50. Yamashita S, Saenko V. Mechanisms of Disease: molecular genetics of childhood thyroid cancers. Nat Clin Pract Endocrinol Metab. 2007;3:422-9 pubmed
    ..Here we review results of pathological and molecular studies in childhood thyroid cancer. ..
  51. Mukaihara T, Tamura N, Iwabuchi M. Genome-wide identification of a large repertoire of Ralstonia solanacearum type III effector proteins by a new functional screen. Mol Plant Microbe Interact. 2010;23:251-62 pubmed publisher
    ..We also show that most of the R. solanacearum effector proteins, but not Hrp extracellular components, require an Hrp-associated protein, HpaB, for their effective translocation into plant cells. ..
  52. Miyaji T, Omote H, Moriyama Y. A vesicular transporter that mediates aspartate and glutamate neurotransmission. Biol Pharm Bull. 2010;33:1783-5 pubmed
    ..Thus, sialin is a multifunctional transporter. It is possible that people with Salla disease lose the ability of aspartergic neurotransmission, and this could explain why Salla disease involves severe neurological defects...
  53. Takase T, Hirai Y. Identification of the C-terminal tail domain of AHF/trichohyalin as the critical site for modulation of the keratin filamentous meshwork in the keratinocyte. J Dermatol Sci. 2012;65:141-8 pubmed publisher
    ..We propose a model for cytoskeletal modulation in the IRS of anagenic hair follicles: AHF latches onto the keratin bundles by its C-terminus and rearranges the keratin meshwork by intrinsic cohesive activity for the granule formation. ..
  54. Itou A, Matsumoto K, Hara H. Activation of the Cpx phosphorelay signal transduction system in acidic phospholipid-deficient pgsA mutant cells of Escherichia coli. Biochem Biophys Res Commun. 2012;421:296-300 pubmed publisher
    ..The outer membrane lipoprotein NlpE, however, while necessary for the surface adhesion-induced Cpx response, was not involved in Cpx activation in the pgsA mutant. ..
  55. Kimura T, Nakayama K, Penninger J, Kitagawa M, Harada H, Matsuyama T, et al. Involvement of the IRF-1 transcription factor in antiviral responses to interferons. Science. 1994;264:1921-4 pubmed
    ..Thus, IRF-1 is necessary for the antiviral action of IFNs against some viruses, but IFNs activate multiple activation pathways through diverse target genes to induce the antiviral state. ..
  56. Kato J, Sakai Y, Nikata T, Ohtake H. Cloning and characterization of a Pseudomonas aeruginosa gene involved in the negative regulation of phosphate taxis. J Bacteriol. 1994;176:5874-7 pubmed
    ..aeruginosa phoU gene was involved both in the regulation of AP expression and in the induction of P(i) taxis. However, unlike AP expression, P(i) taxis was not regulated by the phoB gene product. ..
  57. Yamamoto Y, Sato Y, Takahashi Abbe S, Abbe K, Yamada T, Kizaki H. Cloning and sequence analysis of the pfl gene encoding pyruvate formate-lyase from Streptococcus mutans. Infect Immun. 1996;64:385-91 pubmed
    ..The ORF specified a putative protein of 775 amino acid residues with a calculated molecular weight of 87,533. The amino acid sequence deduced from the ORF exhibited significant similarity to that of the E. coli pfl gene. ..
  58. Tsukamoto Y, Kato J, Ikeda H. Silencing factors participate in DNA repair and recombination in Saccharomyces cerevisiae. Nature. 1997;388:900-3 pubmed
    ..We propose that Sir proteins act with Hdf1 to alter broken DNA ends to create an inactivated chromatin structure that is essential for the rejoining of DNA ends. ..
  59. Iwamoto N, Sumi D, Ishii T, Uchida K, Cho A, Froines J, et al. Chemical knockdown of protein-tyrosine phosphatase 1B by 1,2-naphthoquinone through covalent modification causes persistent transactivation of epidermal growth factor receptor. J Biol Chem. 2007;282:33396-404 pubmed
    ..Collectively, the results show that covalent attachment of 1,2-NQ to PTP1B is at least partially responsible for the reduction of PTP activity, which leads to prolonged transactivation of EGFR in the cells. ..
  60. Ishikawa R, Shinomura T, Takano M, Shimamoto K. Phytochrome dependent quantitative control of Hd3a transcription is the basis of the night break effect in rice flowering. Genes Genet Syst. 2009;84:179-84 pubmed
    ..Our results suggest that quantitative effect of light on flowering in rice NB is mediated by the regulation of Hd3a transcription by phyB...
  61. Arunothayanan H, Nomura M, Hamaguchi R, Itakura M, Minamisawa K, Tajima S. Copper metallochaperones are required for the assembly of bacteroid cytochrome c oxidase which is functioning for nitrogen fixation in soybean nodules. Plant Cell Physiol. 2010;51:1242-6 pubmed publisher
    ..Our data suggest that bll4880 protein is involved in copper ion delivery to Cco through blr1131 protein, and the expression of both proteins was induced under microaerobic conditions...
  62. Koebis M, Ohsawa N, Kino Y, Sasagawa N, Nishino I, Ishiura S. Alternative splicing of myomesin 1 gene is aberrantly regulated in myotonic dystrophy type 1. Genes Cells. 2011;16:961-72 pubmed publisher
    ..Our results suggest that the downregulation of MBNL proteins should lead to the abnormal splicing of MYOM1 exon 17a in DM1 muscle. ..
  63. Miyao A, Nakagome M, Ohnuma T, Yamagata H, Kanamori H, Katayose Y, et al. Molecular spectrum of somaclonal variation in regenerated rice revealed by whole-genome sequencing. Plant Cell Physiol. 2012;53:256-64 pubmed publisher
    ..However, the base change ratio was estimated to be 1.74 × 10(-6) base substitutions per site per regeneration, which is 248-fold greater than the spontaneous mutation rate of A. thaliana. ..
  64. Motoyama N, Okada H, Azuma T. Somatic mutation in constant regions of mouse lambda 1 light chains. Proc Natl Acad Sci U S A. 1991;88:7933-7 pubmed
  65. Nose A, Tsuji K, Takeichi M. Localization of specificity determining sites in cadherin cell adhesion molecules. Cell. 1990;61:147-55 pubmed
    ..We also found that the epitopes for antibodies capable of blocking cadherin action are located in this amino-terminal region. ..
  66. Katayama T, Murakami Y, Wada C, Ohmori H, Yura T, Nagata T. Genetic suppression of a dnaG mutation in Escherichia coli. J Bacteriol. 1989;171:1485-91 pubmed
    ..An alternative mechanism of suppression by sdgB is discussed. ..
  67. Hirono H, Hayasaka K, Sato W, Takahashi T, Takada G. Isolation of cDNA encoding the human liver phosphorylase kinase alpha subunit (PHKA2) and identification of a missense mutation of the PHKA2 gene in a family with liver phosphorylase kinase deficiency. Biochem Mol Biol Int. 1995;36:505-11 pubmed
    ..We identified a missense mutation, a valine substitution for glycine at amino acid 193, in the PHKA2 gene of a family with XLG. ..
  68. Kutsukake K, Minamino T, Yokoseki T. Isolation and characterization of FliK-independent flagellation mutants from Salmonella typhimurium. J Bacteriol. 1994;176:7625-9 pubmed
    ..On the basis of these results, we discuss the mechanism of suppression of the fliK defects by the flhB mutations and propose a hypothesis on the export switching machinery of the flagellar proteins. ..
  69. Kita Y, Sumida T, Ichikawa K, Maeda T, Yonaha F, Iwamoto I, et al. V gene analysis of anticardiolipin antibodies from MRL-lpr/lpr mice. J Immunol. 1993;151:849-56 pubmed
    ..These results suggest the possibility that usage of VH/V kappa genes in aCL is not random and that aCL consist of somatically mutated Ig genes. ..
  70. Kubota A, Yamada Y, Hayami T, Yasuda K, Someya Y, Ihara Y, et al. Identification of two missense mutations in the GIP receptor gene: a functional study and association analysis with NIDDM: no evidence of association with Japanese NIDDM subjects. Diabetes. 1996;45:1701-5 pubmed
    ..Association studies show no relationship between NIDDM and either of the two mutations. ..
  71. Aida M, Ishida T, Fukaki H, Fujisawa H, Tasaka M. Genes involved in organ separation in Arabidopsis: an analysis of the cup-shaped cotyledon mutant. Plant Cell. 1997;9:841-57 pubmed
    ..We cloned the CUC2 gene and found that the encoded protein was homologous to the petunia NO APICAL MERISTEM (NAM) protein, which is thought to act in the development of embryos and flowers. ..
  72. Matsuda M, Miyagawa K, Takahashi M, Fukuda T, Kataoka T, Asahara T, et al. Mutations in the RAD54 recombination gene in primary cancers. Oncogene. 1999;18:3427-30 pubmed
    ..Since RAD54 is a recombinational protein associated with RAD51, this is the first genetic evidence that cancer arises from a defect in repair processes involving homologous recombination. ..
  73. Kubota H, Sakaki Y, Ito T. GI domain-mediated association of the eukaryotic initiation factor 2alpha kinase GCN2 with its activator GCN1 is required for general amino acid control in budding yeast. J Biol Chem. 2000;275:20243-6 pubmed
    ..Thus, GI domain-mediated association of GCN2 to GCN1 is required for general amino acid control. This finding provides the first insight into the molecular mechanism for the activation of GCN2 by GCN1. ..
  74. Nishijyo T, Haas D, Itoh Y. The CbrA-CbrB two-component regulatory system controls the utilization of multiple carbon and nitrogen sources in Pseudomonas aeruginosa. Mol Microbiol. 2001;40:917-31 pubmed
    ..In conclusion, the CbrA-CbrB system controls the expression of several catabolic pathways and, perhaps together with the NtrB-NtrC system, appears to ensure the intracellular carbon: nitrogen balance in P. aeruginosa. ..
  75. Toh e A, Oguchi T. Genetic characterization of genes encoding enzymes catalyzing addition of phospho-ethanolamine to the glycosylphosphatidylinositol anchor in Saccharomyces cerevisiae. Genes Genet Syst. 2002;77:309-22 pubmed
    ..Las21 did not show preference for the metabolic pathway to produce phosphatidylethanolamine. ..
  76. Muramatsu Y, Taniguchi Y, Kose H, Matsumoto K, Yamada T, Sasaki Y. Capn10, a candidate gene responsible for type 2 diabetes mellitus in the OLETF rat. IUBMB Life. 2003;55:533-7 pubmed
    ..This non-conservative amino acid substitution might be associated with susceptibility to type 2 diabetes in OLETF rats. ..
  77. Morito N, Yoh K, Hirayama A, Itoh K, Nose M, Koyama A, et al. Nrf2 deficiency improves autoimmune nephritis caused by the fas mutation lpr. Kidney Int. 2004;65:1703-13 pubmed
    ..Therefore, Nrf2 deficiency acts as a suppressor of the autoimmune accelerating gene lpr. ..
  78. Katoh Y, Takemori H, Min L, Muraoka M, Doi J, Horike N, et al. Salt-inducible kinase-1 represses cAMP response element-binding protein activity both in the nucleus and in the cytoplasm. Eur J Biochem. 2004;271:4307-19 pubmed
  79. Watanabe Y, Shiratsuchi A, Shimizu K, Takizawa T, Nakanishi Y. Stimulation of phagocytosis of influenza virus-infected cells through surface desialylation of macrophages by viral neuraminidase. Microbiol Immunol. 2004;48:875-81 pubmed
    ..These results indicate that surface desialylation of macrophages by influenza virus NA modulates the mode of association between macrophages and target virus-infected cells and stimulates phosphatidylserine-mediated phagocytosis. ..
  80. Tsukamoto K, Hayashi S, Matsuo M, Nonaka M, Kondo M, Shima A, et al. Unprecedented intraspecific diversity of the MHC class I region of a teleost medaka, Oryzias latipes. Immunogenetics. 2005;57:420-31 pubmed
  81. Matsuura T, Endo S, Iwamoto R, Takahashi H, Ichinose M. Developmental changes in chemotactic response and choice of two attractants, sodium acetate and diacetyl, in the nematode Caenorhabditis elegans. Comp Biochem Physiol A Mol Integr Physiol. 2007;147:920-7 pubmed
    ..These results suggest that a change in the neuronal mechanisms controlling attractant choice and preference occurs during developmental progression...
  82. Katsuno T, Umeda K, Matsui T, Hata M, Tamura A, Itoh M, et al. Deficiency of zonula occludens-1 causes embryonic lethal phenotype associated with defected yolk sac angiogenesis and apoptosis of embryonic cells. Mol Biol Cell. 2008;19:2465-75 pubmed publisher
    ..In conclusion, ZO-1 may be functionally important for cell remodeling and tissue organization in both the embryonic and extraembryonic regions, thus playing an essential role in embryonic development...
  83. Shikazono N, O Neill P. Biological consequences of potential repair intermediates of clustered base damage site in Escherichia coli. Mutat Res. 2009;669:162-8 pubmed publisher
    ..We propose that, when either base lesion is initially excised from a bistranded base damage site, the remaining base lesion will only rarely be converted into an AP site or a single strand break in vivo. ..
  84. Ishikawa T, Nakai N, Liu N, Shiba K, Isozaki K, Matsuda I, et al. In vivo effect of imatinib on progression of cecal GIST-like tumors in exon 17-type c-kit knock-in mice. Lab Invest. 2009;89:1161-8 pubmed publisher
  85. Tatematsu K, Yamamoto K, Uchino K, Narukawa J, Iizuka T, Banno Y, et al. Positional cloning of silkworm white egg 2 (w-2) locus shows functional conservation and diversification of ABC transporters for pigmentation in insects. Genes Cells. 2011;16:331-42 pubmed publisher
    ..Our results emphasize the functional conservation and diversification of half-type ABC transporter families in insects, which may contribute to their extremely diverse color patterns...
  86. Kiyota T, Hamada R, Sakamoto K, Iwashita K, Yamada O, Mikami S. Aflatoxin non-productivity of Aspergillus oryzae caused by loss of function in the aflJ gene product. J Biosci Bioeng. 2011;111:512-7 pubmed publisher
    ..These results strongly suggest that the amino-acid substitutions in AFLJ of A. oryzae induce inactivation at the protein level...
  87. Hyodo K, Mine A, Iwakawa H, Kaido M, Mise K, Okuno T. Identification of amino acids in auxiliary replicase protein p27 critical for its RNA-binding activity and the assembly of the replicase complex in Red clover necrotic mosaic virus. Virology. 2011;413:300-9 pubmed publisher
    ..Our results demonstrate that p27 has multiple functions in RCNMV replication. ..
  88. Tatsukawa M, Takaki A, Shiraha H, Koike K, Iwasaki Y, Kobashi H, et al. Hepatitis B virus core promoter mutations G1613A and C1653T are significantly associated with hepatocellular carcinoma in genotype C HBV-infected patients. BMC Cancer. 2011;11:458 pubmed publisher
    ..G1613A and C1653T double mutations were frequently found in patients with HCC. A single G1613A mutation was associated with future emergence of HCC. These mutations may serve as useful markers in predicting HCC development. ..
  89. Wakasa Y, Hirano K, Urisu A, Matsuda T, Takaiwa F. Generation of transgenic rice lines with reduced contents of multiple potential allergens using a null mutant in combination with an RNA silencing method. Plant Cell Physiol. 2011;52:2190-9 pubmed publisher
  90. Nakano N, Maeyama K, Sakata N, Itoh F, Akatsu R, Nakata M, et al. C18 ORF1, a novel negative regulator of transforming growth factor-? signaling. J Biol Chem. 2014;289:12680-92 pubmed publisher
    ..Thus, we defined C18ORF1 as a surveillant of steady state TGF-? signaling, whereas TMEPAI might help C18ORF1 to inhibit TGF-? signaling in a coordinated manner when cells are stimulated with high levels of TGF-?. ..
  91. Takagi M, Shimizu M, Suzuki E, Shinohara H, Narumi S, Hasegawa T, et al. Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia. Am J Med Genet A. 2016;170:795-8 pubmed publisher
  92. Yoshisue H, Ihara K, Nishimoto T, Sakai H, Komano T. Cloning and characterization of a Bacillus thuringiensis homolog of the spoIIID gene from Bacillus subtilis. Gene. 1995;154:23-9 pubmed
    ..These results strongly suggest that the gene we have cloned is a Bt homolog of spoIIID...