Experts and Doctors on mutation in Fukuoka, Japan

Summary

Locale: Fukuoka, Japan
Topic: mutation

Top Publications

  1. Nakao R, Haji M, Yanase T, Ogo A, Takayanagi R, Katsube T, et al. A single amino acid substitution (Met786----Val) in the steroid-binding domain of human androgen receptor leads to complete androgen insensitivity syndrome. J Clin Endocrinol Metab. 1992;74:1152-7 pubmed
    ..These results suggest that androgen resistance in these patients is due to the point mutation in the steroid-binding domain of the AR. ..
  2. Cai J, Kakuma T, Tsuzuki T, Sekiguchi M. cDNA and genomic sequences for rat 8-oxo-dGTPase that prevents occurrence of spontaneous mutations due to oxidation of guanine nucleotides. Carcinogenesis. 1995;16:2343-50 pubmed
    ..Using the cDNA as a probe, part of the rat gene for 8-oxo-dGTPase was isolated and was found to consist of at least three exons and spanned about 10 kb. A genomic region containing the pseudogene was also isolated. ..
  3. Otera H, Okumoto K, Tateishi K, Ikoma Y, Matsuda E, Nishimura M, et al. Peroxisome targeting signal type 1 (PTS1) receptor is involved in import of both PTS1 and PTS2: studies with PEX5-defective CHO cell mutants. Mol Cell Biol. 1998;18:388-99 pubmed
    ..Both mutations were in the TPR domains (TPR1 and TPR6), suggesting the functional consequence of these domains in protein translocation. The implications of these mutations are discussed...
  4. Hayakawa H, Kuwano M, Sekiguchi M. Specific binding of 8-oxoguanine-containing RNA to polynucleotide phosphorylase protein. Biochemistry. 2001;40:9977-82 pubmed
    ..The Pnp protein may, therefore, discriminate between an oxidized RNA molecule and a normal one, thus contributing a high fidelity of translation. ..
  5. Sasaki A, Inagaki Ohara K, Yoshida T, Yamanaka A, Sasaki M, Yasukawa H, et al. The N-terminal truncated isoform of SOCS3 translated from an alternative initiation AUG codon under stress conditions is stable due to the lack of a major ubiquitination site, Lys-6. J Biol Chem. 2003;278:2432-6 pubmed
    ..Our findings provide strong evidence for the first time that translational control plays an important role in stabilization and function of SOCS3. ..
  6. Kusano A, Yoshioka T, Nishijima H, Nishitani H, Nishimoto T. Schizosaccharomyces pombe RanGAP homolog, SpRna1, is required for centromeric silencing and chromosome segregation. Mol Biol Cell. 2004;15:4960-70 pubmed
    ..Taken together, SpRna1 was suggested to function for constructing the centromeres, by cooperating with Clr4 and Snf2SR. Loss of SpRna1 activity, therefore, caused chromosome missegregation. ..
  7. Ishimoto H, Takahashi K, Ueda R, Tanimura T. G-protein gamma subunit 1 is required for sugar reception in Drosophila. EMBO J. 2005;24:3259-65 pubmed
    ..We also demonstrated that responses to sugars were lowered in Ggamma1 null mutant, Ggamma1(N159). These results are consistent with the hypothesis that Ggamma1 participates in the signal transduction of sugar taste reception. ..
  8. Hara T, Kamura T, Kotoshiba S, Takahashi H, Fujiwara K, Onoyama I, et al. Role of the UBL-UBA protein KPC2 in degradation of p27 at G1 phase of the cell cycle. Mol Cell Biol. 2005;25:9292-303 pubmed
    ..These observations suggest that KPC2 cooperatively regulates p27 degradation with KPC1 and that the STI1 domain as well as the UBL and UBA domains of KPC2 are indispensable for its function. ..
  9. Ikawa Y, Matsumoto J, Horie S, Inoue T. Redesign of an artificial ligase ribozyme based on the analysis of its structural elements. RNA Biol. 2005;2:137-42 pubmed
    ..This kind of molecular transformation should serve as a prototypic model for understanding the molecular organization and evolution of naturally occurring ribozymes. ..

More Information

Publications211 found, 100 shown here

  1. Maehara Y, Miyano K, Sumimoto H. Role for the first SH3 domain of p67phox in activation of superoxide-producing NADPH oxidases. Biochem Biophys Res Commun. 2009;379:589-93 pubmed publisher
    ..Thus p67(phox)-SH3(N) specifically functions in gp91(phox)/Nox2 activation probably via facilitating oxidase assembly. ..
  2. Ohashi T, Takegawa K. N- and O-linked oligosaccharides completely lack galactose residues in the gms1och1 mutant of Schizosaccharomyces pombe. Appl Microbiol Biotechnol. 2010;86:263-72 pubmed publisher
  3. Koshiba T, Holman H, Kubara K, Yasukawa K, Kawabata S, Okamoto K, et al. Structure-function analysis of the yeast mitochondrial Rho GTPase, Gem1p: implications for mitochondrial inheritance. J Biol Chem. 2011;286:354-62 pubmed publisher
    ..Our results suggest that basic features of Miro protein function are conserved from yeast to humans, despite differences in the cellular machinery mediating mitochondrial distribution in these organisms. ..
  4. Watanabe S, Shirogane Y, Suzuki S, Ikegame S, Koga R, Yanagi Y. Mutant fusion proteins with enhanced fusion activity promote measles virus spread in human neuronal cells and brains of suckling hamsters. J Virol. 2013;87:2648-59 pubmed publisher
  5. Hotta K, Sasaki J, Saeki S, Takigawa N, Katsui K, Takayama K, et al. Gefitinib Combined With Standard Chemoradiotherapy in EGFR-Mutant Locally Advanced Non-Small-Cell Lung Cancer: The LOGIK0902/OLCSG0905 Intergroup Study Protocol. Clin Lung Cancer. 2016;17:75-9 pubmed publisher
    ..This study will clarify whether tyrosine kinase inhibitors targeted to EGFR can produce a maximal effect in selected NSCLC patients with the relevant driver mutation, even in the locally advanced setting. ..
  6. Miyata T, Sakai T, Sugimoto M, Naka H, Yamamoto K, Yoshioka A, et al. Factor IX Amagasaki: a new mutation in the catalytic domain resulting in the loss of both coagulant and esterase activities. Biochemistry. 1991;30:11286-91 pubmed
    ..This is the first report to show the experimental evidence for importance of a highly conserved Gly-142 (chymotrypsinogen numbering) located in the catalytic site of mammalian serine proteases so far known. ..
  7. Maki H, Akiyama M, Horiuchi T, Sekiguchi M. Molecular mechanisms of replicational fidelity in Escherichia coli. Basic Life Sci. 1990;52:299-308 pubmed
    ..A dGTPase activity was associated with the MutT protein. The significance of the dGTPase activity in the prevention of dG:dA mispairing is discussed. ..
  8. Kawate H, Ihara K, Kohda K, Sakumi K, Sekiguchi M. Mouse methyltransferase for repair of O6-methylguanine and O4-methylthymine in DNA. Carcinogenesis. 1995;16:1595-602 pubmed
    ..In the LacZ reversion assay, MNNG-induced A:T to G:C as well as G:C to A:T transition mutations were efficiently suppressed by the function of mouse methyltransferase, in vivo. ..
  9. Ikeda Y, Oda S, Abe T, Ohno S, Maehara Y, Sugimachi K. Features of microsatellite instability in colorectal cancer: comparison between colon and rectum. Oncology. 2001;61:168-74 pubmed
    ..In the rectum, there was no tumour with the type B/MSI-H phenotype. These findings suggest that cancers occurring in the colon and the rectum have a differential molecular background for carcinogenesis. ..
  10. Ideue T, Azad A, Yoshida J, Matsusaka T, Yanagida M, Ohshima Y, et al. The nucleolus is involved in mRNA export from the nucleus in fission yeast. J Cell Sci. 2004;117:2887-95 pubmed
    ..These findings support the notion that a subset of mRNAs in yeast is exported from the nucleus through transient association with the nucleolus. ..
  11. Uto K, Inoue D, Shimuta K, Nakajo N, Sagata N. Chk1, but not Chk2, inhibits Cdc25 phosphatases by a novel common mechanism. EMBO J. 2004;23:3386-96 pubmed
    ..Thus, Chk1 but not Chk2 seems to inhibit virtually all Cdc25 phosphatases by a novel common mechanism. ..
  12. Honsho M, Yagita Y, Kinoshita N, Fujiki Y. Isolation and characterization of mutant animal cell line defective in alkyl-dihydroxyacetonephosphate synthase: localization and transport of plasmalogens to post-Golgi compartments. Biochim Biophys Acta. 2008;1783:1857-65 pubmed publisher
  13. Kaneko Y, Tamura K, Totsukawa G, Kondo H. Phosphorylation of p37 is important for Golgi disassembly at mitosis. Biochem Biophys Res Commun. 2010;402:37-41 pubmed publisher
    ..Our results demonstrate that p37 phosphorylation on Serine-56 and Threonine-59 is important for Golgi disassembly at mitosis. ..
  14. Ishii A, Yasumoto S, Ihara Y, Inoue T, Fujita T, Nakamura N, et al. Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis. Brain Dev. 2013;35:524-30 pubmed publisher
    ..In contrast, PRRT2 mutations do not seem to be associated with CwG or BFNE. Screening for PRRT2 mutation might be useful in early-stage differentiation of BFIE from CwG. ..
  15. Nitta H, Unoki M, Ichiyanagi K, Kosho T, Shigemura T, Takahashi H, et al. Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients. J Hum Genet. 2013;58:455-60 pubmed publisher
    ..We further revealed that the proper localization of wild-type Zbtb24 protein does not require DNA methylation. ..
  16. Takahashi Y, Ebisu Y, Kinoshita T, Doi M, Okuma E, Murata Y, et al. bHLH transcription factors that facilitate K? uptake during stomatal opening are repressed by abscisic acid through phosphorylation. Sci Signal. 2013;6:ra48 pubmed publisher
  17. Sumida K, Inoue K, Takanashi J, Sasaki M, Watanabe K, Suzuki M, et al. The magnetic resonance imaging spectrum of Pelizaeus-Merzbacher disease: A multicenter study of 19 patients. Brain Dev. 2016;38:571-80 pubmed publisher
    ..The spectrum of MRI findings should be kept in mind to diagnose PMD and to differentiate from other demyelinating leukodystrophies. ..
  18. Panagiotou E, Sanjurjo Soriano C, Poulter J, Lord E, Dzulova D, Kondo H, et al. Defects in the Cell Signaling Mediator ?-Catenin Cause the Retinal Vascular Condition FEVR. Am J Hum Genet. 2017;100:960-968 pubmed publisher
  19. Kobayashi Y, Fukumaki Y, Yubisui T, Inoue J, Sakaki Y. Serine-proline replacement at residue 127 of NADH-cytochrome b5 reductase causes hereditary methemoglobinemia, generalized type. Blood. 1990;75:1408-13 pubmed
    ..Functional enzyme deficiency results in a generalized type of hereditary methemoglobinemia. ..
  20. Nishitani H, Kobayashi H, Ohtsubo M, Nishimoto T. Cloning of Xenopus RCC1 cDNA, a homolog of the human RCC1 gene: complementation of tsBN2 mutation and identification of the product. J Biochem. 1990;107:228-35 pubmed
    ..Thus, the RCC1 protein was suggested to regulate the onset of chromosome condensation in the eukaryote from amphibian to mammalian cells. ..
  21. Yamada G, Ueno K, Nakamura S, Hanamure Y, Yasui K, Uemura M, et al. Nasal and pharyngeal abnormalities caused by the mouse goosecoid gene mutation. Biochem Biophys Res Commun. 1997;233:161-5 pubmed
    ..These results should help elucidating the molecular genetic programs essential to the neonatal development of mammals. ..
  22. Sasaki K, Doh ura K, Furuta A, Nakashima S, Morisada Y, Tateishi J, et al. Neuropathological features of a case with schizophrenia and prion protein gene P102L mutation before onset of Gerstmann-Sträussler-Scheinker disease. Acta Neuropathol. 2003;106:92-6 pubmed
    ..The nature and significance of the inclusion bodies, which are not observed in patients with GSS, remain unclear. ..
  23. Takagi H, Kakuta Y, Okada T, Yao M, Tanaka I, Kimura M. Crystal structure of archaeal toxin-antitoxin RelE-RelB complex with implications for toxin activity and antitoxin effects. Nat Struct Mol Biol. 2005;12:327-31 pubmed publisher
    ..Site-directed mutagenesis suggests that Arg85, in the C-terminal region, is strongly involved in the functional activity of aRelE, whereas Arg40, Leu48, Arg58 and Arg65 play a modest role in the toxin's activity...
  24. Takano A, Suetsugu N, Wada M, Kohda D. Crystallographic and functional analyses of J-domain of JAC1 essential for chloroplast photorelocation movement in Arabidopsis thaliana. Plant Cell Physiol. 2010;51:1372-6 pubmed publisher
    ..These results suggest that the requirement of JAC1 in chloroplast photorelocation movement is attributable to the J-domain's cochaperone activity. ..
  25. Ohshima S, Tsuboi Y, Yamamoto A, Kawakami M, Farrer M, Kira J, et al. Autonomic failures in Perry syndrome with DCTN1 mutation. Parkinsonism Relat Disord. 2010;16:612-4 pubmed publisher
    ..Because of central hypoventilation, all affected members need ventilation assistance, which is thought beneficial for prolongation of survival time as well as improving quality of life in this syndrome. ..
  26. Natsuyama R, Okumoto K, Fujiki Y. Pex5p stabilizes Pex14p: a study using a newly isolated pex5 CHO cell mutant, ZPEG101. Biochem J. 2013;449:195-207 pubmed publisher
    ..Therefore ZPEG101 with no Pex5p would be a useful tool for investigating Pex5p function and delineating the mechanisms underlying peroxisomal matrix protein import...
  27. Nakanishi R, Harada J, Tuul M, Zhao Y, Ando K, Saeki H, et al. Prognostic relevance of KRAS and BRAF mutations in Japanese patients with colorectal cancer. Int J Clin Oncol. 2013;18:1042-8 pubmed publisher
    ..KRAS mutation status could be a novel biomarker for predicting disease recurrence in Japanese patients with stage II CRC. ..
  28. Yotsumoto F, Fukagawa S, Miyata K, Nam S, Katsuda T, Miyahara D, et al. HB-EGF Is a Promising Therapeutic Target for Lung Cancer with Secondary Mutation of EGFRT790M. Anticancer Res. 2017;37:3825-3831 pubmed
    ..These results suggest that HB-EGF is a rational target for the treatment of lung cancer with EGFR mutation. ..
  29. Fucharoen S, Shimizu K, Fukumaki Y. A novel C-T transition within the distal CCAAT motif of the G gamma-globin gene in the Japanese HPFH: implication of factor binding in elevated fetal globin expression. Nucleic Acids Res. 1990;18:5245-53 pubmed
  30. Shiota S, Nakayama H. Evidence for a Micrococcus luteus gene homologous to uvrB of Escherichia coli. Mol Gen Genet. 1988;213:21-9 pubmed
    ..This indicates that the gene defined by the UVsN1 mutation represents a homolog of the E. coli uvrB gene, implying the presence in M. luteus of an enzyme complex homologous to the E. coli UvrABC excinuclease...
  31. Koda Y, Soejima M, Johnson P, Smart E, Kimura H. Missense mutation of FUT1 and deletion of FUT2 are responsible for Indian Bombay phenotype of ABO blood group system. Biochem Biophys Res Commun. 1997;238:21-5 pubmed
    ..These results suggest that the T725G mutation of FUT1 and the gene deletion of FUT2 are responsible for the classical Indian Bombay phenotype. ..
  32. Wang Y, Morimoto S, Du C, Lu Q, Zhan D, Tsutsumi T, et al. Up-regulation of type 2 iodothyronine deiodinase in dilated cardiomyopathy. Cardiovasc Res. 2010;87:636-46 pubmed publisher
    ..Local hyperthyroidism via transcriptional up-regulation of the Dio2 gene may be an important underlying mechanism for the hypertrophic cardiac remodelling in DCM. ..
  33. Takeshita M, Koga T, Takayama K, Yano T, Maehara Y, Nakanishi Y, et al. Alternative efficacy-predicting markers for paclitaxel instead of CHFR in non-small-cell lung cancer. Cancer Biol Ther. 2010;10:933-41 pubmed publisher
    ..9%) and 7 cases (10.1%), respectively. The SDI method revealed that CHFR gene methylation was significantly related to high sensitivity to paclitaxel (p. ..
  34. Furuya H, Yoshioka K, Sasaki H, Sakaki Y, Nakazato M, Matsuo H, et al. Molecular analysis of a variant type of familial amyloidotic polyneuropathy showing cerebellar ataxia and pyramidal tract signs. J Clin Invest. 1987;80:1706-11 pubmed
    ..These observations lead to the consideration that a genetic factor(s) involved in the dysfunction of the central nervous system may locate in a chromosome region in close proximity to the TTR gene. ..
  35. Yasuno R, Wada H. Biosynthesis of lipoic acid in Arabidopsis: cloning and characterization of the cDNA for lipoic acid synthase. Plant Physiol. 1998;118:935-43 pubmed
    ..Western analysis with an antibody against lipoic acid synthase demonstrated that this enzyme is located in the mitochondrial compartment in Arabidopsis cells as a 43-kD polypeptide. ..
  36. Tamura S, Matsumoto N, Imamura A, Shimozawa N, Suzuki Y, Kondo N, et al. Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction. Biochem J. 2001;357:417-26 pubmed
    ..Failure in Pex1p-Pex6p interaction gives rise to more severe abnormalities, such as those manifested by patients with ZS. ..
  37. Shiratsuchi H, Saito T, Sakamoto A, Itakura E, Tamiya S, Oshiro Y, et al. Mutation analysis of human cytokeratin 8 gene in malignant rhabdoid tumor: a possible association with intracytoplasmic inclusion body formation. Mod Pathol. 2002;15:146-53 pubmed
    ..In conclusion, mutated codons of CK8 gene in MRT were located in the important region involved in the conformational change of intermediate filament. ..
  38. Matsumoto N, Tamura S, Furuki S, Miyata N, Moser A, Shimozawa N, et al. Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. Am J Hum Genet. 2003;73:233-46 pubmed
    ..These findings confirm that the degree of temperature sensitivity in pex26 cell lines is predictive of the clinical phenotype in patients with PEX26 deficiency. ..
  39. Kado T, Yoshimaru H, Tsumura Y, Tachida H. DNA variation in a conifer, Cryptomeria japonica (Cupressaceae sensu lato). Genetics. 2003;164:1547-59 pubmed
    ..The low level of population recombination rate, 4Nr, seemed to be due to both low level of recombination, r, and small population size, N...
  40. Nitasaka E. Insertion of an En/Spm-related transposable element into a floral homeotic gene DUPLICATED causes a double flower phenotype in the Japanese morning glory. Plant J. 2003;36:522-31 pubmed
    ..This transposable element sequence was present in all Ipomoea species tested. This finding suggests that the insertion event originated in an ancestral species of genus Ipomoea...
  41. Saito T, Oda Y, Kawaguchi K, Sugimachi K, Yamamoto H, Tateishi N, et al. E-cadherin mutation and Snail overexpression as alternative mechanisms of E-cadherin inactivation in synovial sarcoma. Oncogene. 2004;23:8629-38 pubmed
    ..Thus, E-cadherin downregulation is associated with the loss or absence of glandular epithelial differentiation in certain SS. ..
  42. Chieda Y, Iiyama K, Yasunaga Aoki C, Lee J, Kusakabe T, Shimizu S. Pathogenicity of gacA mutant of Pseudomonas aeruginosa PA01 in the silkworm, Bombyx mori. FEMS Microbiol Lett. 2005;244:181-6 pubmed publisher
    ..However, no significant difference was observed between C1 and C1 (pgacA) with respect to the killing of B. mori larvae...
  43. Tao R, Kawate H, Wu Y, Ohnaka K, Ishizuka M, Inoue A, et al. Testicular zinc finger protein recruits histone deacetylase 2 and suppresses the transactivation function and intranuclear foci formation of agonist-bound androgen receptor competitively with TIF2. Mol Cell Endocrinol. 2006;247:150-65 pubmed
  44. Watanabe N, Ishihara T, Ohshima Y. Mutants carrying two sma mutations are super small in the nematode C. elegans. Genes Cells. 2007;12:603-9 pubmed
    ..These results highlight surprising flexibility of body size and cell size in a multicellular organism, which will give a novel insight into the mechanisms of body size control. ..
  45. Honda T, Kakuta Y, Kimura K, Saho J, Kimura M. Structure of an archaeal homolog of the human protein complex Rpp21-Rpp29 that is a key core component for the assembly of active ribonuclease P. J Mol Biol. 2008;384:652-62 pubmed publisher
    ..The present structure, along with the result of a mutational analysis, suggests that heterodimerization between PhoRpp21 and PhoRpp29 plays an important role in the function of P. horikoshii RNase P...
  46. Kanki T, Wang K, Baba M, Bartholomew C, Lynch Day M, Du Z, et al. A genomic screen for yeast mutants defective in selective mitochondria autophagy. Mol Biol Cell. 2009;20:4730-8 pubmed publisher
    ..Accordingly, we have named this gene ATG33. The new mutants identified in this analysis will provide a useful foundation for researchers interested in the study of mitochondrial homeostasis and quality control. ..
  47. Furuyama K, Harada T, Iwama E, Shiraishi Y, Okamura K, Ijichi K, et al. Sensitivity and kinase activity of epidermal growth factor receptor (EGFR) exon 19 and others to EGFR-tyrosine kinase inhibitors. Cancer Sci. 2013;104:584-9 pubmed publisher
    ..This study underscores the importance of reporting the clinical outcome of treatment in relation to different EGFR mutations. ..
  48. Takemiya A, Sugiyama N, Fujimoto H, Tsutsumi T, Yamauchi S, Hiyama A, et al. Phosphorylation of BLUS1 kinase by phototropins is a primary step in stomatal opening. Nat Commun. 2013;4:2094 pubmed publisher
    ..Together, our analyses demonstrate that BLUS1 functions as a phototropin substrate and primary regulator of stomatal control to enhance photosynthetic CO2 assimilation under natural light conditions...
  49. Yamada K, Azuma K, Takeshita M, Uchino J, Nishida C, Suetsugu T, et al. Phase II Trial of Erlotinib in Elderly Patients with Previously Treated Non-small Cell Lung Cancer: Results of the Lung Oncology Group in Kyushu (LOGiK-0802). Anticancer Res. 2016;36:2881-7 pubmed
  50. Zhang H, Kiuchi T, Wang L, Kawamoto M, Suzuki Y, Sugano S, et al. Bm-muted, orthologous to mouse muted and encoding a subunit of the BLOC-1 complex, is responsible for the otm translucent mutation of the silkworm Bombyx mori. Gene. 2017;629:92-100 pubmed publisher
    ..This mutation is likely to cause deficiencies in urate granule formation in epidermal cells that result in translucent larval skin. ..
  51. Takano K, Nakamura T, Sekiguchi M. Roles of two types of O6-methylguanine-DNA methyltransferases in DNA repair. Mutat Res. 1991;254:37-44 pubmed
    ..O6-Methylguanine-DNA methyltransferases appear to eliminate premutagenic DNA lesions not only from cells exposed to alkylating agents but also from those grown in the absence of the agents. ..
  52. Sakamoto A, Oda Y, Adachi T, Tamiya S, Matsuda S, Tanaka K, et al. H-ras oncogene mutation in dedifferentiated liposarcoma. Polymerase chain reaction-restriction fragment length polymorphism analysis. Am J Clin Pathol. 2001;115:235-42 pubmed
    ..Our results seem to suggest that the H-ras mutation is a relatively uncommon event in dedifferentiated liposarcoma, which may demonstrate an epiphenomenon of dedifferentiation in dedifferentiated liposarcoma. ..
  53. Kuronita T, Eskelinen E, Fujita H, Saftig P, Himeno M, Tanaka Y. A role for the lysosomal membrane protein LGP85 in the biogenesis and maintenance of endosomal and lysosomal morphology. J Cell Sci. 2002;115:4117-31 pubmed
    ..Thus, these findings provide important new insights into the role of LGP85 in the biogenesis and the maintenance of endosomes/lysosomes. We conclude that LGP85 may participate in reorganizing the endosomal/lysosomal compartments. ..
  54. Ishibashi T, Hayakawa H, Sekiguchi M. A novel mechanism for preventing mutations caused by oxidation of guanine nucleotides. EMBO Rep. 2003;4:479-83 pubmed
  55. Okamoto T, Kohno M, Ito K, Takada K, Katsura M, Morodomi Y, et al. Clinical Significance of DNA Damage Response Factors and Chromosomal Instability in Primary Lung Adenocarcinoma. Anticancer Res. 2017;37:1729-1735 pubmed
    ..The CHEK2 pathway may be important for the proliferation of lung adenocarcinoma, especially in tumors with chromosomal instability. ..
  56. Matsumoto S, Igura M, Nyirenda J, Matsumoto M, Yuzawa S, Noda N, et al. Crystal structure of the C-terminal globular domain of oligosaccharyltransferase from Archaeoglobus fulgidus at 1.75 Å resolution. Biochemistry. 2012;51:4157-66 pubmed publisher
    ..This classification provides a useful framework for OST studies...
  57. Kida Y, Sakaguchi M, Fukuda M, Mikoshiba K, Mihara K. Amino acid residues before the hydrophobic region which are critical for membrane translocation of the N-terminal domain of synaptotagmin II. FEBS Lett. 2001;507:341-5 pubmed
    ..The residue requirement correlated with the turn propensity scale for transmembranes. It is suggested that a certain conformation, likely helical hairpin, in the hinge is critical for N-terminal domain translocation. ..
  58. Numata T, Suzuki A, Kakuta Y, Kimura K, Yao M, Tanaka I, et al. Crystal structures of the ribonuclease MC1 mutants N71T and N71S in complex with 5'-GMP: structural basis for alterations in substrate specificity. Biochemistry. 2003;42:5270-8 pubmed
    ..Consequently, it can be concluded that amino acids at position 71 (RNase MC1 numbering) serve as one of the determinants for substrate specificity (or preference) in the RNase T2 fimily by changing the size and shape of the B2 site. ..
  59. Cai J, Ishibashi T, Takagi Y, Hayakawa H, Sekiguchi M. Mouse MTH2 protein which prevents mutations caused by 8-oxoguanine nucleotides. Biochem Biophys Res Commun. 2003;305:1073-7 pubmed
    ..coli mutT(-) cells. Thus, MTH2 has a potential to protect the genetic material from the untoward effects of endogenous oxygen radicals. MTH2 could act as an MTH1 redundancy factor. ..
  60. Kohashi K, Izumi T, Oda Y, Yamamoto H, Tamiya S, Taguchi T, et al. Infrequent SMARCB1/INI1 gene alteration in epithelioid sarcoma: a useful tool in distinguishing epithelioid sarcoma from malignant rhabdoid tumor. Hum Pathol. 2009;40:349-55 pubmed publisher
    ..Analysis of alterations in the SMARCB1/INI1 gene may thus be a useful diagnostic tool to distinguish proximal-type epithelioid sarcoma from malignant rhabdoid tumor. ..
  61. Wada K, Kobayashi J, Furukawa M, Doi K, Ohshiro T, Suzuki H. A thiostrepton resistance gene and its mutants serve as selectable markers in Geobacillus kaustophilus HTA426. Biosci Biotechnol Biochem. 2016;80:368-75 pubmed publisher
    ..In fact, the tsr(H258Y) gene served as a selectable marker for plasmid transformation of G. kaustophilus. This new marker could facilitate complex genetic modification of G. kaustophilus and potentially other Geobacillus spp. ..
  62. Dejima K, Seko A, Yamashita K, Gengyo Ando K, Mitani S, Izumikawa T, et al. Essential roles of 3'-phosphoadenosine 5'-phosphosulfate synthase in embryonic and larval development of the nematode Caenorhabditis elegans. J Biol Chem. 2006;281:11431-40 pubmed
    ..elegans. Furthermore, reporter analysis showed that pps-1 is expressed in the epidermis and several gland cells but not in neurons and muscles, indicating that PAPS in the neurons and muscles is provided by other cells. ..
  63. Asaduzzaman S, Nagao J, Aso Y, Nakayama J, Sonomoto K. Lysine-oriented charges trigger the membrane binding and activity of nukacin ISK-1. Appl Environ Microbiol. 2006;72:6012-7 pubmed
  64. Yamamoto C, Basaki Y, Kawahara A, Nakashima K, Kage M, Izumi H, et al. Loss of PTEN expression by blocking nuclear translocation of EGR1 in gefitinib-resistant lung cancer cells harboring epidermal growth factor receptor-activating mutations. Cancer Res. 2010;70:8715-25 pubmed publisher
    ..Our findings reinforce the therapeutic importance of PTEN expression in the treatment of NSCLC with EGFR-targeted drugs. ..
  65. Mizuochi T, Kimura A, Suzuki M, Ueki I, Takei H, Nittono H, et al. Successful heterozygous living donor liver transplantation for an oxysterol 7α-hydroxylase deficiency in a Japanese patient. Liver Transpl. 2011;17:1059-65 pubmed publisher
  66. Okumoto K, Itoh R, Shimozawa N, Suzuki Y, Tamura S, Kondo N, et al. Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B. Hum Mol Genet. 1998;7:1399-405 pubmed
    ..PEX10 cDNA derived from patient PBDB-01 was defective in peroxisome-restoring activity when expressed in patient fibroblasts. These results demonstrate that mutation in PEX10 is the genetic cause of complementation group B PBD. ..
  67. Fujiyoshi K, Yamamoto G, Takenoya T, Takahashi A, Arai Y, Yamada M, et al. Metastatic Pattern of Stage IV Colorectal Cancer with High-Frequency Microsatellite Instability as a Prognostic Factor. Anticancer Res. 2017;37:239-247 pubmed
    ..33 vs. 5.2 years; p=0.006). Prognosis of stage IV CRC with MSI-H depended on the metastatic pattern. These findings provide useful information for the adaptation of CRC immunotherapy. ..
  68. Kinoshita Y, Shiratsuchi H, Tamiya S, Oshiro Y, Hachitanda Y, Oda Y, et al. Mutations of the p53 gene in malignant rhabdoid tumors of soft tissue and the kidney: immunohistochemical and DNA direct sequencing analysis. J Cancer Res Clin Oncol. 2001;127:351-8 pubmed
    ..These results strongly suggest that p53 gene alterations may have an important role to play in the aggressive biological behavior and poor prognosis of this tumor. ..
  69. Sato H, Hayashi T, Ando T, Hisaeda Y, Ueno T, Watanabe Y. Hybridization of modified-heme reconstitution and distal histidine mutation to functionalize sperm whale myoglobin. J Am Chem Soc. 2004;126:436-7 pubmed
    ..The present results indicate that the combination of a modified-heme reconstitution and an amino acid mutation should offer interesting perspectives toward developing a useful biomolecule catalyst from a hemoprotein. ..
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