Experts and Doctors on mutation in Tokyo, Japan


Locale: Tokyo, Japan
Topic: mutation

Top Publications

  1. Kojima H, Shinohara N, Hanaoka S, Someya Shirota Y, Takagaki Y, Ohno H, et al. Two distinct pathways of specific killing revealed by perforin mutant cytotoxic T lymphocytes. Immunity. 1994;1:357-64 pubmed
    ..These data not only confirmed the primary role of perforin but simultaneously revealed a major contribution of a perforin-independent Fas-mediated pathway in antigen-specific cytolysis. ..
  2. Hattori M, Nanko S. Association of neurotrophin-3 gene variant with severe forms of schizophrenia. Biochem Biophys Res Commun. 1995;209:513-8 pubmed
    ..Individuals homozygous or heterozygous for the allele Glu-63 had a 2.595-fold increased risk of severe forms of schizophrenia. ..
  3. Hashimoto H, Sakakibara A, Yamasaki M, Yoda K. Saccharomyces cerevisiae VIG9 encodes GDP-mannose pyrophosphorylase, which is essential for protein glycosylation. J Biol Chem. 1997;272:16308-14 pubmed
    ..cerevisiae which catalyzes the production of GDP-mannose. We demonstrated the enzyme activity of Vig9 protein using a recombinant fusion protein produced in Escherichia coli. ..
  4. Shiga Y, Sekine Y, Kano Y, Ohtsubo E. Involvement of H-NS in transpositional recombination mediated by IS1. J Bacteriol. 2001;183:2476-84 pubmed
    ..We discuss the possibility that H-NS promotes the formation of an active IS1 DNA-transposase complex in which the IS1 ends are cleaved to initiate transpositional recombination through interaction with IS1 transposase. ..
  5. Uno K, Takita J, Yokomori K, Tanaka Y, Ohta S, Shimada H, et al. Aberrations of the hSNF5/INI1 gene are restricted to malignant rhabdoid tumors or atypical teratoid/rhabdoid tumors in pediatric solid tumors. Genes Chromosomes Cancer. 2002;34:33-41 pubmed
    ..These results suggest that alterations of the hSNF5/INI1 gene were restricted to MRTs or AT/RTs in pediatric solid tumors. ..
  6. Hikasa H, Shibata M, Hiratani I, Taira M. The Xenopus receptor tyrosine kinase Xror2 modulates morphogenetic movements of the axial mesoderm and neuroectoderm via Wnt signaling. Development. 2002;129:5227-39 pubmed
    ..These results suggest that Xror2 cooperates with Wnts to regulate convergent extension of the axial mesoderm and neuroectoderm by modulating the planar cell polarity pathway of Wnt. ..
  7. Asakawa K, Toh e A. A defect of Kap104 alleviates the requirement of mitotic exit network gene functions in Saccharomyces cerevisiae. Genetics. 2002;162:1545-56 pubmed
    ..These results suggest that a mutation in Kap104 stimulates exit from mitosis through the activation of Cdc14 and implies a novel role for Kap104 in cell-cycle progression in budding yeast. ..
  8. Tanaka T, Taniyama C, Arai K, Masai H. ATPase/helicase motif mutants of Escherichia coli PriA protein essential for recombination-dependent DNA replication. Genes Cells. 2003;8:251-61 pubmed
    ..coli genome dependent on recombination functions-to the full extent. ATPase/DNA helicase activities of PriA protein are required for full-level DNA synthesis in recombination-dependent modes of DNA replication in E. coli. ..
  9. Kurosu T, Fukuda T, Miki T, Miura O. BCL6 overexpression prevents increase in reactive oxygen species and inhibits apoptosis induced by chemotherapeutic reagents in B-cell lymphoma cells. Oncogene. 2003;22:4459-68 pubmed
    ..These results raise the possibility that deregulated expression of BCL6 may endow lymphoma cells with resistance to chemotherapeutic reagents, most likely by enhancing the antioxidant defense systems. ..

More Information

Publications211 found, 100 shown here

  1. Torizawa T, Ueda T, Kuramitsu S, Hitomi K, Todo T, Iwai S, et al. Investigation of the cyclobutane pyrimidine dimer (CPD) photolyase DNA recognition mechanism by NMR analyses. J Biol Chem. 2004;279:32950-6 pubmed publisher
    ..Finally, NMR analyses of a double-stranded DNA (dsDNA)-CPD photolyase complex indicated that the CPD is flipped out of the dsDNA by the enzyme, to gain access to the active site...
  2. Kato Y, Iwama A, Tadokoro Y, Shimoda K, Minoguchi M, Akira S, et al. Selective activation of STAT5 unveils its role in stem cell self-renewal in normal and leukemic hematopoiesis. J Exp Med. 2005;202:169-79 pubmed
    ..Our findings collectively establish a specific role for STAT5 in self-renewal of normal as well as leukemic stem cells. ..
  3. Matsumoto S, Ogino K, Noguchi E, Russell P, Masai H. Hsk1-Dfp1/Him1, the Cdc7-Dbf4 kinase in Schizosaccharomyces pombe, associates with Swi1, a component of the replication fork protection complex. J Biol Chem. 2005;280:42536-42 pubmed
    ..These data suggest that Hsk1-Dfp1/Him1 and Swi1-Swi3 complexes have interrelated roles in stabilization of arrested replication forks. ..
  4. Morita K, Takano K, Yasufuku Takano J, Yamada S, Teramoto A, Takei M, et al. Expression of pituitary tumour-derived, N-terminally truncated isoform of fibroblast growth factor receptor 4 (ptd-FGFR4) correlates with tumour invasiveness but not with G-protein alpha subunit (gsp) mutation in human GH-secreting pituitary adenomas. Clin Endocrinol (Oxf). 2008;68:435-41 pubmed
    ..We found that ptd-FGFR4 expression and gsp mutations occur independently of each other, and that ptd-FGFR4 expression is associated with more invasive tumours in patients with GH-secreting pituitary adenomas. ..
  5. Watanabe S, Oguchi Y, Takeda K, Miki K, Tokuda H. Introduction of a lethal redox switch that controls the opening and closing of the hydrophobic cavity in LolA. J Biol Chem. 2008;283:25421-7 pubmed publisher
    ..Taken together, these results indicate that the two Cys residues introduced into LolA function as a redox switch, which regulates the opening and closing of the hydrophobic cavity. ..
  6. Hara K, Shimodate N, Ito M, Baba T, Mori H, Mori H. Systematic genome-wide scanning for genes involved in ATP generation in Escherichia coli. Metab Eng. 2009;11:1-7 pubmed publisher
    ..Overall, the data set of this study may be useful to improve E. coli strains for ATP-dependent industrial processes and, therefore, may be important for the design of so-called cell factories. ..
  7. Sato Y, Morita R, Katsuma S, Nishimura M, Tanaka A, Kusaba M. Two short-chain dehydrogenase/reductases, NON-YELLOW COLORING 1 and NYC1-LIKE, are required for chlorophyll b and light-harvesting complex II degradation during senescence in rice. Plant J. 2009;57:120-31 pubmed publisher
    ..These observations suggest that NOL and NYC1 are co-localized in the thylakoid membrane and act in the form of a complex as a chlorophyll b reductase in rice. ..
  8. Miyake A, Higashijima S, Kobayashi D, Narita T, Jindo T, Setiamarga D, et al. Mutation in the abcb7 gene causes abnormal iron and fatty acid metabolism in developing medaka fish. Dev Growth Differ. 2008;50:703-16 pubmed publisher
    ..The medaka abcb7 mutant thus could provide insights into the pathogenesis of XLSA/A as well as the normal function of the gene. ..
  9. Sakamaki H, Ishizawa K, Taniwaki M, Fujisawa S, Morishima Y, Tobinai K, et al. Phase 1/2 clinical study of dasatinib in Japanese patients with chronic myeloid leukemia or Philadelphia chromosome-positive acute lymphoblastic leukemia. Int J Hematol. 2009;89:332-341 pubmed publisher
    ..Dasatinib therapy resulted in high rates of hematologic and cytogenetic response, suggesting that dasatinib is promising as a new treatment for Japanese CML and Ph(+) ALL patients resistant or intolerant to imatinib. ..
  10. Arimura T, Inagaki N, Hayashi T, Shichi D, Sato A, Hinohara K, et al. Impaired binding of ZASP/Cypher with phosphoglucomutase 1 is associated with dilated cardiomyopathy. Cardiovasc Res. 2009;83:80-8 pubmed publisher
    ..ZASP/Cypher anchors PGM1 to Z-disc under conditions of stress. The impaired binding of PGM1 to ZASP/Cypher might be involved in the pathogenesis of DCM. ..
  11. Yamamichi S, Nishitani M, Nishimura N, Matsushita Y, Hasumi K. Polyamine-promoted autoactivation of plasma hyaluronan-binding protein. J Thromb Haemost. 2010;8:559-66 pubmed publisher
    ..Polyamine concentrations are higher in cells and tissues with inflammation and malignancy. Polyamine leakage from legions through cell death or tissue injury may account for physiologically relevant pro-PHBP activation. ..
  12. Wakasugi K. Species-specific differences in the regulation of the aminoacylation activity of mammalian tryptophanyl-tRNA synthetases. FEBS Lett. 2010;584:229-32 pubmed publisher
    ..These results provide the first evidence of species-specific regulation of TrpRS activity. ..
  13. Tamura T, Horiuchi D, Chen Y, Sone M, Miyashita T, Saitoe M, et al. Drosophila PQBP1 regulates learning acquisition at projection neurons in aversive olfactory conditioning. J Neurosci. 2010;30:14091-101 pubmed publisher
    ..Collectively, these findings identify dPQBP1 as a novel gene regulating learning acquisition at PNs. ..
  14. Yamaguchi H, Kuboki Y, Hatori T, Yamamoto M, Shiratori K, Kawamura S, et al. Somatic mutations in PIK3CA and activation of AKT in intraductal tubulopapillary neoplasms of the pancreas. Am J Surg Pathol. 2011;35:1812-7 pubmed publisher
    ..In contrast, the mutation in KRAS seems to play a major role in IPMNs but not in ITPNs. The activated phosphatidylinositol 3-kinase pathway may be a potential target for molecular diagnosis and therapy of ITPNs. ..
  15. Nakagawa M, Shimabe M, Watanabe Okochi N, Arai S, Yoshimi A, Shinohara A, et al. AML1/RUNX1 functions as a cytoplasmic attenuator of NF-?B signaling in the repression of myeloid tumors. Blood. 2011;118:6626-37 pubmed publisher
    ..These findings reveal a novel role for AML1 as a cytoplasmic attenuator of NF-?B signaling and indicate that NF-?B signaling is one of the promising therapeutic targets of hematologic malignancies with AML1 abnormality. ..
  16. Yoshinaga S, Ohkubo T, Sasaki S, Nuriya M, Ogawa Y, Yasui M, et al. A phosphatidylinositol lipids system, lamellipodin, and Ena/VASP regulate dynamic morphology of multipolar migrating cells in the developing cerebral cortex. J Neurosci. 2012;32:11643-56 pubmed publisher
    ..Our observations suggest that PI(3,4)P?, Lpd, and Ena/VASP are involved in the process movement of multipolar migrating cells. ..
  17. Numata Y, Morimura T, Nakamura S, Hirano E, Kure S, Goto Y, et al. Depletion of molecular chaperones from the endoplasmic reticulum and fragmentation of the Golgi apparatus associated with pathogenesis in Pelizaeus-Merzbacher disease. J Biol Chem. 2013;288:7451-66 pubmed publisher
    ..We propose that depletion of ER chaperones and GA fragmentation induced by mutant misfolded proteins contribute to the pathogenesis of inherited ER stress-related diseases and affect the disease severity...
  18. Nakano Y, Misawa N, Juarez Fernandez G, Moriwaki M, Nakaoka S, Funo T, et al. HIV-1 competition experiments in humanized mice show that APOBEC3H imposes selective pressure and promotes virus adaptation. PLoS Pathog. 2017;13:e1006348 pubmed publisher
    ..Taken together, this study provides evidence that stable variants of A3H impose selective pressure on HIV-1. ..
  19. 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. ..
  20. Kikuchi Y, Shimatake H, Kikuchi A. A yeast gene required for the G1-to-S transition encodes a protein containing an A-kinase target site and GTPase domain. EMBO J. 1988;7:1175-82 pubmed
    ..wt 76,565 which contained consensus sequences for a target site of cAMP-dependent protein kinase(s) and for GTPase with extensive homology to polypeptide chain elongation factor EF1 alpha. ..
  21. Mimae T, Tsuta K, Maeshima A, Okada M, Asamura H, Kondo T, et al. Cathepsin D as a potential prognostic marker for lung adenocarcinoma. Pathol Res Pract. 2012;208:534-40 pubmed publisher
    ..Cathepsin D expression is indicated to be a possible prognostic marker for lung AD and to correlate with a more poorly differentiated form. ..
  22. Murata T, Masunaga T, Shimizu H, Takizawa Y, Ishiko A, Hatta N, et al. Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa. Arch Dermatol Res. 2000;292:477-81 pubmed
    ..These results further support the notion that different glycine substitution mutations in the same codon can lead to heterogeneous clinical phenotypes of DDEB, EB pruriginosa and classical type. ..
  23. Hayashi H, Sugiyama Y. 4-phenylbutyrate enhances the cell surface expression and the transport capacity of wild-type and mutated bile salt export pumps. Hepatology. 2007;45:1506-16 pubmed
    ..Moreover, treatment of Sprague-Dawley rats with 4PBA resulted in an increase in BSEP expression at the canalicular membrane, which was accompanied by an increase in the biliary excretion of [(3)H]taurocholic acid (TC)...
  24. Hayashi Y, Matsuda C, Ogawa M, Goto K, Tominaga K, Mitsuhashi S, et al. Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. J Clin Invest. 2009;119:2623-33 pubmed publisher
  25. Tachiwana H, Kagawa W, Osakabe A, Kawaguchi K, Shiga T, Hayashi Takanaka Y, et al. Structural basis of instability of the nucleosome containing a testis-specific histone variant, human H3T. Proc Natl Acad Sci U S A. 2010;107:10454-9 pubmed publisher
    ..These physical and structural properties of the H3T-containing nucleosome may provide the basis of chromatin reorganization during spermatogenesis. ..
  26. Haferlach T, Nagata Y, Grossmann V, Okuno Y, Bacher U, Nagae G, et al. Landscape of genetic lesions in 944 patients with myelodysplastic syndromes. Leukemia. 2014;28:241-7 pubmed publisher
    ..001 each). Thus, large-scale genetic and molecular profiling of multiple target genes is invaluable for subclassification and prognostication in MDS patients. ..
  27. Chung D, Ohashi K, Watanabe M, Miyasaka N, Hirosawa S. Mannose trimming targets mutant alpha(2)-plasmin inhibitor for degradation by the proteasome. J Biol Chem. 2000;275:4981-7 pubmed
  28. Takano K, Nakagawa E, Inoue K, Kamada F, Kure S, Goto Y. A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family. Am J Med Genet B Neuropsychiatr Genet. 2008;147B:479-84 pubmed
    ..Our study also suggested that the FTSJ1 mutation probably accounts for XLMR in Japanese at a similar frequency (1-2%) as in Europeans. ..
  29. Mabuchi I, Shimada N, Sato S, Ienaga K, Inami S, Sakai T. Mushroom body signaling is required for locomotor activity rhythms in Drosophila. Neurosci Res. 2016;111:25-33 pubmed publisher
    ..Our results indicate that MB signaling plays a key role in locomotor activity rhythms in Drosophila. ..
  30. Takeshita Y, Shimizu N, Yamaguchi Y, Nakazono H, Saitou M, Fujikawa Y, et al. Two families with Wilson disease in which siblings showed different phenotypes. J Hum Genet. 2002;47:543-7 pubmed
  31. Sato M, Umetsu D, Murakami S, Yasugi T, Tabata T. DWnt4 regulates the dorsoventral specificity of retinal projections in the Drosophila melanogaster visual system. Nat Neurosci. 2006;9:67-75 pubmed
  32. Hosoya S, Asai K, Ogasawara N, Takeuchi M, Sato T. Mutation in yaaT leads to significant inhibition of phosphorelay during sporulation in Bacillus subtilis. J Bacteriol. 2002;184:5545-53 pubmed
    ..Micrographs indicated that YaaT-green fluorescent protein localizes to the peripheral membrane, as well as to the septum, during sporulation. ..
  33. Maeda D, Shih I. Pathogenesis and the role of ARID1A mutation in endometriosis-related ovarian neoplasms. Adv Anat Pathol. 2013;20:45-52 pubmed publisher
  34. Hasegawa K, Kobayashi R, Takada E, Ono A, Chiba N, Morozumi M, et al. High prevalence of type b beta-lactamase-non-producing ampicillin-resistant Haemophilus influenzae in meningitis: the situation in Japan where Hib vaccine has not been introduced. J Antimicrob Chemother. 2006;57:1077-82 pubmed
    ..The results suggest that introduction of H. influenzae type b (Hib) vaccination into infants and children is necessary for the prevention of severe Hib infections in Japan. ..
  35. Miyamoto Y, Matsuda T, Kitoh H, Haga N, Ohashi H, Nishimura G, et al. A recurrent mutation in type II collagen gene causes Legg-Calvé-Perthes disease in a Japanese family. Hum Genet. 2007;121:625-9 pubmed
    ..This is the first report of a mutation in hereditary LCPD. COL2A1 mutations may be more common in LCPD patients than currently thought, particularly in familial and/or bilateral cases. ..
  36. Kouchi Z, Shikano T, Nakamura Y, Shirakawa H, Fukami K, Miyazaki S. The role of EF-hand domains and C2 domain in regulation of enzymatic activity of phospholipase Czeta. J Biol Chem. 2005;280:21015-21 pubmed
    ..PI(3)P and PI(5)P reduced PLCzeta activity in vitro, suggesting that the interaction could play a role for negative regulation of PLCzeta. ..
  37. Okada K, Kasahara H, Yamaguchi S, Kawaide H, Kamiya Y, Nojiri H, et al. Genetic evidence for the role of isopentenyl diphosphate isomerases in the mevalonate pathway and plant development in Arabidopsis. Plant Cell Physiol. 2008;49:604-16 pubmed publisher
  38. Asai T, Kuwahara M, Kurihara H, Sakai T, Terada Y, Marumo F, et al. Pathogenesis of nephrogenic diabetes insipidus by aquaporin-2 C-terminus mutations. Kidney Int. 2003;64:2-10 pubmed
    ..The Xenopus oocyte expression study suggested that the trafficking of the mutant AQP2s was impaired...
  39. Kawabe K, Goto K, Nishino I, Angelini C, Hayashi Y. Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy. Eur J Neurol. 2004;11:657-61 pubmed
    ..The correlation between clinical phenotype and the gene mutations was unclear, which suggested the role of additional genetic and epigenetic factors in modifying clinical symptoms. ..
  40. Kubo S, Tokumitsu A, Tomozawa T, Kakuta M, Yamashita M. High and continuous exposure of laninamivir, an anti-influenza drug, may work suppressively to generate low-susceptibility mutants in animals. J Infect Chemother. 2012;18:69-74 pubmed publisher
    ..This finding suggested the unique characteristics of laninamivir octanoate in mice may work suppressively to generate low-susceptibility mutants. ..
  41. Miyake S, Yamashita S. Identification of sna41 gene, which is the suppressor of nda4 mutation and is involved in DNA replication in Schizosaccharomyces pombe. Genes Cells. 1998;3:157-66 pubmed
    ..The S. pombe sna41 mutation suppresses the nda4-108 mutation. Sna41 is involved in DNA replication and may play some roles in the regulation of DNA replication by the MCM proteins. ..
  42. Yamami T, Ito K, Fujiwara T, Nakamura Y. Heterologous expression of Aquifex aeolicus ribosome recycling factor in Escherichia coli is dominant lethal by forming a complex that lacks functional co-ordination for ribosome disassembly. Mol Microbiol. 2005;55:150-61 pubmed
    ..coli. These aaRRF mutations are spatially distinct from mutations previously described and suggest a novel active centre for coupling EF-G's G domain motor action to ribosome disassembly. ..
  43. Koyama H, Ito T, Nakanishi T, Sekimizu K. Stimulation of RNA polymerase II transcript cleavage activity contributes to maintain transcriptional fidelity in yeast. Genes Cells. 2007;12:547-59 pubmed
  44. Takeshita M, Ichikawa M, Nitta E, Goyama S, Asai T, Ogawa S, et al. AML1-Evi-1 specifically transforms hematopoietic stem cells through fusion of the entire Evi-1 sequence to AML1. Leukemia. 2008;22:1241-9 pubmed publisher
    ..Thus, leukemogenic activity of AML1-Evi-1 may be due to activation of molecular mechanisms distinct from those activated by MLL-ENL or AML1-ETO in the hematopoietic stem cell fractions. ..
  45. Sasaki M, Kobayashi T. Ctf4 Prevents Genome Rearrangements by Suppressing DNA Double-Strand Break Formation and Its End Resection at Arrested Replication Forks. Mol Cell. 2017;66:533-545.e5 pubmed publisher
    ..End resection also occurs during physiological rDNA amplification even in the presence of Ctf4. Suppression of end resection is thus important for protecting DSBs at arrested forks from chromosome rearrangements. ..
  46. Maehama T, Kosaka N, Okahara F, Takeuchi K, Umeda M, Dixon J, et al. Suppression of a phosphatidylinositol 3-kinase signal by a specific spliced variant of Drosophila PTEN. FEBS Lett. 2004;565:43-7 pubmed
    ..Our results suggest that dPTEN3 is the predominant spliced form that participates in PI(3,4,5)P(3)-mediated signaling pathways. ..
  47. Yamagata A, Mimura H, Sato Y, Yamashita M, Yoshikawa A, Fukai S. Structural insight into the membrane insertion of tail-anchored proteins by Get3. Genes Cells. 2010;15:29-41 pubmed publisher
    ..This interaction is independent of ATP and dimer formation. Finally, we propose a structural mechanism that links ATP hydrolysis with the TA-protein insertion mediated by the conserved DTAPTGH motif. ..
  48. Kubota T, Matsuoka M, Xu S, Otsuki N, Takeda M, Kato A, et al. PIASy inhibits virus-induced and interferon-stimulated transcription through distinct mechanisms. J Biol Chem. 2011;286:8165-75 pubmed publisher
    ..Our results demonstrate that PIASy negatively regulates both IFN transcription and IFN-stimulated gene expression through multiple mechanisms utilizing the function of different domains. ..
  49. Haraguchi K, Nishida A, Ishidate T, Akiyama T. Activation of beta-catenin-TCF-mediated transcription by non-receptor tyrosine kinase v-Src. Biochem Biophys Res Commun. 2004;313:841-4 pubmed
    ..Our finding raises the possibility that aberrantly activated c-Src may enhance Wnt signaling and this may contribute to tumor progression. ..
  50. Takahashi Y, Koizumi K, Takagi A, Kitajima S, Inoue T, Koseki H, et al. Mesp2 initiates somite segmentation through the Notch signalling pathway. Nat Genet. 2000;25:390-6 pubmed
    ..Therefore, Mesp2- and Ps1-dependent activation of Notch-signalling pathways might differentially regulate Dll1 expression, resulting in the establishment of the rostro-caudal polarity of somites. ..
  51. Han H, Kuwae A, Abe A, Arakawa Y, Kamachi K. Differential expression of type III effector BteA protein due to IS481 insertion in Bordetella pertussis. PLoS ONE. 2011;6:e17797 pubmed publisher
    ..This type-dependent expression is due to an insertion of IS481 in B. pertussis clinical strains, suggesting that augmented expression of BteA protein might play a key role in the type shift of B. pertussis. ..
  52. Hamahata T, Fujimaki T, Fujiki K, Miyazaki A, Mizota A, Murakami A. OPA1 mutations in Japanese patients suspected to have autosomal dominant optic atrophy. Jpn J Ophthalmol. 2012;56:91-7 pubmed publisher
    ..After a detailed clinical assessment of the proband, the screening of the OPA1 gene may be helpful for precise diagnosis of ADOA, provided the relevant information of the family members is limited. ..
  53. Sakamoto A, Ono K, Abe M, Jasmin G, Eki T, Murakami Y, et al. Both hypertrophic and dilated cardiomyopathies are caused by mutation of the same gene, delta-sarcoglycan, in hamster: an animal model of disrupted dystrophin-associated glycoprotein complex. Proc Natl Acad Sci U S A. 1997;94:13873-8 pubmed
    ..The present study not only identifies CM hamster as a valuable animal model for studying the function of delta-SG in vivo but also provides a genetic target for diagnosis and treatment of human CM...
  54. Ohtani M, Sugiyama M. Involvement of SRD2-mediated activation of snRNA transcription in the control of cell proliferation competence in Arabidopsis. Plant J. 2005;43:479-90 pubmed
  55. Noda Y, Sasaki S. Regulation of aquaporin-2 trafficking and its binding protein complex. Biochim Biophys Acta. 2006;1758:1117-25 pubmed
    ..In addition, a multiprotein "force generator" complex which directly binds to AQP2 has been discovered. This review summarizes recent advances related to the mechanism for AQP2 trafficking. ..
  56. Honma M, Hayashi M. Comparison of in vitro micronucleus and gene mutation assay results for p53-competent versus p53-deficient human lymphoblastoid cells. Environ Mol Mutagen. 2011;52:373-84 pubmed publisher
    ..In conclusion, the p53 status did not seriously influence the MN test results but it did influence the TK mutation assay results. ..
  57. Totoki Y, Tatsuno K, Yamamoto S, Arai Y, Hosoda F, Ishikawa S, et al. High-resolution characterization of a hepatocellular carcinoma genome. Nat Genet. 2011;43:464-9 pubmed publisher
  58. Konya C, Hatanaka Y, Fujiwara Y, Uchida K, Nagai Y, Wada K, et al. Parkinson's disease-associated mutations in ?-synuclein and UCH-L1 inhibit the unconventional secretion of UCH-L1. Neurochem Int. 2011;59:251-8 pubmed publisher
    ..Moreover, the secretion of UCH-L1 could be involved in the pathology of Parkinson's disease. ..
  59. Asakura H, Kawamoto K, Okada Y, Kasuga F, Makino S, Yamamoto S, et al. Intrahost passage alters SigB-dependent acid resistance and host cell-associated kinetics of Listeria monocytogenes. Infect Genet Evol. 2012;12:94-101 pubmed publisher
    ..monocytogenes. Our study provides new insight into the potential role of intrahost environment in the process of bacterial evolution. ..
  60. Yamasoba T, Goto Y, Oka Y, Nishino I, Tsukuda K, Nonaka I. Atypical muscle pathology and a survey of cis-mutations in deaf patients harboring a 1555 A-to-G point mutation in the mitochondrial ribosomal RNA gene. Neuromuscul Disord. 2002;12:506-12 pubmed
  61. Koana T, Okada M, Ogura K, Tsujimura H, Sakai K. Reduction of background mutations by low-dose X irradiation of Drosophila spermatocytes at a low dose rate. Radiat Res. 2007;167:217-21 pubmed
  62. Shiono M, Kobayashi T, Takahashi R, Sun G, Abe M, Zhang D, et al. The G1556S-type tuberin variant suppresses tumor formation in tuberous sclerosis 2 mutant (Eker) rats despite its deficiency in mTOR inhibition. Oncogene. 2008;27:6690-7 pubmed publisher
    ..Identification of such a novel pathway will provide clear implications for generation of new therapeutic targets in the treatment of these tumors. ..
  63. Hayakawa T, Kato K, Hayakawa R, Hisamoto N, Matsumoto K, Takeda K, et al. Regulation of anoxic death in Caenorhabditis elegans by mammalian apoptosis signal-regulating kinase (ASK) family proteins. Genetics. 2011;187:785-92 pubmed publisher
    ..These results suggest that the TIR-1-NSY-1-SEK-1-PMK-1 pathway plays important roles in the reponse to anoxia in C. elegans. ..
  64. Kanao T, Sawada T, Davies S, Ichinose H, Hasegawa K, Takahashi R, et al. The nitric oxide-cyclic GMP pathway regulates FoxO and alters dopaminergic neuron survival in Drosophila. PLoS ONE. 2012;7:e30958 pubmed publisher
    ..These results strongly suggest that the NO-FoxO axis contributes to DA neurodegeneration in LRRK2-linked PD. ..
  65. Sohma Y, Yu Y, Hwang T. Curcumin and genistein: the combined effects on disease-associated CFTR mutants and their clinical implications. Curr Pharm Des. 2013;19:3521-8 pubmed
    ..In this review, we revisit the pharmacology of genistein and curcumin on CFTR and also propose new pharmaceutical implications of combined use of these compounds in the development of drugs for CF pharmacotherapy. ..
  66. Hossain M, Higaki K, Shinpo M, Nanba E, Suzuki Y, Ozono K, et al. Chemical chaperone treatment for galactosialidosis: Effect of NOEV on β-galactosidase activities in fibroblasts. Brain Dev. 2016;38:175-80 pubmed publisher
    ..Our results indicate the possibility that NOEV chaperone therapy might have a beneficial effect, at least in part, for patients with galactosialidosis. ..
  67. Hoshino M, Matsuzaki F, Nabeshima Y, Hama C. hikaru genki, a CNS-specific gene identified by abnormal locomotion in Drosophila, encodes a novel type of protein. Neuron. 1993;10:395-407 pubmed
    ..In situ hybridization to embryos revealed that accumulation of the hig transcripts is restricted to subsets of cells in the CNS. Our data suggest that hig has a role in the development of CNS functions involved in locomotor activity. ..
  68. Emoto K, Kuge O, Nishijima M, Umeda M. Isolation of a Chinese hamster ovary cell mutant defective in intramitochondrial transport of phosphatidylserine. Proc Natl Acad Sci U S A. 1999;96:12400-5 pubmed
    ..These results indicate that the mutant is defective in PS transport between the outer and inner mitochondrial membrane and provide genetic evidence for the existence of a specific mechanism for intramitochondrial transport of PS. ..
  69. Koizumi K, Sugiyama M, Fukuda H. A series of novel mutants of Arabidopsis thaliana that are defective in the formation of continuous vascular network: calling the auxin signal flow canalization hypothesis into question. Development. 2000;127:3197-204 pubmed
  70. Yoshioka Y, Kumasaka T, Ishidoh K, Kominami E, Mitani K, Hosokawa Y, et al. Inflammatory response and cathepsins in silica-exposed Hermansky-Pudlak syndrome model pale ear mice. Pathol Int. 2004;54:322-31 pubmed
    ..These phenomena induced by silica suggest that external stimuli bring forth fibrogenesis in the animal models or humans that have HPS1 gene mutation...
  71. Kimura H, Fujiwara Y, Sone T, Kunitoh H, Tamura T, Kasahara K, et al. High sensitivity detection of epidermal growth factor receptor mutations in the pleural effusion of non-small cell lung cancer patients. Cancer Sci. 2006;97:642-8 pubmed
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