Experts and Doctors on mutation in Tokyo, Japan

Summary

Locale: Tokyo, Japan
Topic: mutation

Top Publications

  1. Arai S, Matsuoka R, Hirayama K, Sakurai H, Tamura M, Ozawa T, et al. Missense mutation of the beta-cardiac myosin heavy-chain gene in hypertrophic cardiomyopathy. Am J Med Genet. 1995;58:267-76 pubmed
    ..Missense mutations of the beta-cardiac MHC gene in hypertrophic cardiomyopathy may therefore differ according to race. ..
  2. Suzuki T, Saigo K. Transcriptional regulation of atonal required for Drosophila larval eye development by concerted action of eyes absent, sine oculis and hedgehog signaling independent of fused kinase and cubitus interruptus. Development. 2000;127:1531-40 pubmed
  3. Yoshida T, Ito A, Matsuda N, Mishina M. Regulation by protein kinase A switching of axonal pathfinding of zebrafish olfactory sensory neurons through the olfactory placode-olfactory bulb boundary. J Neurosci. 2002;22:4964-72 pubmed
    ..We thus propose that the regulation of PKA signaling plays a key role in the long-distance axonal pathfinding through intermediate guideposts. ..
  4. Bai Y, Miyake S, Iwai T, Yuasa Y. CDX2, a homeobox transcription factor, upregulates transcription of the p21/WAF1/CIP1 gene. Oncogene. 2003;22:7942-9 pubmed
    ..These data suggest that p21 is a transcriptional target of CDX2. Our results may thus provide a new mechanism underlying the functions of CDX2. ..
  5. Takagi M, Kaneda K, Shimizu T, Hayakawa Y, Seto H, Kuzuyama T. Bacillus subtilis ypgA gene is fni, a nonessential gene encoding type 2 isopentenyl diphosphate isomerase. Biosci Biotechnol Biochem. 2004;68:132-7 pubmed
    ..Disruption of the ypgA3 gene was not lethal to B. subtilis. These results indicate that Bacillus ypgA3 gene is fni, a nonessential gene encoding type 2 IPP isomerase. ..
  6. Kanno H, Takizawa T, Miwa S, Fujii H. Molecular basis of Japanese variants of pyrimidine 5'-nucleotidase deficiency. Br J Haematol. 2004;126:265-71 pubmed
    ..These data suggest that L142P increases susceptibility to the degradation by the ubiquitin-proteasome pathway. ..
  7. Kouzmenko A, Takeyama K, Ito S, Furutani T, Sawatsubashi S, Maki A, et al. Wnt/beta-catenin and estrogen signaling converge in vivo. J Biol Chem. 2004;279:40255-8 pubmed
    ..Thus, we present here the first direct evidence of cross-talk between Wnt and estrogen signaling pathways via functional interaction between beta-catenin and ERalpha. ..
  8. Kameoka Y, Persad A, Suzuki K. Genomic variations in myeloperoxidase gene in the Japanese population. Jpn J Infect Dis. 2004;57:S12-3 pubmed
    ..The frequency of mutation in the exon 9 coding region was estimated to be one heterozygote in 129, thus the homozygote of such mutations would be revealed one in 16,000 in the Japanese population. ..
  9. Nam M, Hijikata M, Tuan L, Lien L, Shojima J, Horie T, et al. Variations of the CFTR gene in the Hanoi-Vietnamese. Am J Med Genet A. 2005;136:249-53 pubmed
    ..Three major haplotypes, T7-TG12-M470, T7-TG11-V470, and T7-TG12-V470, estimated by PHASE program, related to 92% of the population. This is the first study of the CFTR gene among the Vietnamese. ..

More Information

Publications455 found, 100 shown here

  1. Sato H, Masuda M, Miura R, Yoneda M, Kai C. Morbillivirus nucleoprotein possesses a novel nuclear localization signal and a CRM1-independent nuclear export signal. Virology. 2006;352:121-30 pubmed
    ..Interestingly, the nuclear export of all these N proteins appears to proceed via a CRM1-independent pathway. ..
  2. Tomatsu H, Takano J, Takahashi H, Watanabe Takahashi A, Shibagaki N, Fujiwara T. An Arabidopsis thaliana high-affinity molybdate transporter required for efficient uptake of molybdate from soil. Proc Natl Acad Sci U S A. 2007;104:18807-12 pubmed
    ..These data confirmed that MOT1 is specific for molybdate and that the high affinity of MOT1 allows plants to obtain scarce Mo from soil. ..
  3. Kagami M, Sekita Y, Nishimura G, Irie M, Kato F, Okada M, et al. Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes. Nat Genet. 2008;40:237-42 pubmed publisher
  4. Kumano K, Masuda S, Sata M, Saito T, Lee S, Sakata Yanagimoto M, et al. Both Notch1 and Notch2 contribute to the regulation of melanocyte homeostasis. Pigment Cell Melanoma Res. 2008;21:70-8 pubmed publisher
    ..Furthermore, Notch1 and Notch2 cooperates with c-kit signaling during embryogenesis, and they cooperate with each other to regulate melanocyte homeostasis after birth. ..
  5. Tagami Y, Motose H, Watanabe Y. A dominant mutation in DCL1 suppresses the hyl1 mutant phenotype by promoting the processing of miRNA. RNA. 2009;15:450-8 pubmed publisher
    ..Our results suggest significant roles of the helicase domain of DCL1, which remain unclear to date, possibly in relation with HYL1. ..
  6. Kunimoto S, Nakamura S, Wada K, Inoue T. Chronic stress-mutated presenilin 1 gene interaction perturbs neurogenesis and accelerates neurodegeneration. Exp Neurol. 2010;221:175-85 pubmed publisher
    ..We conclude from these results that diverse responses against stressful experiences among genetically predisposed individuals could lead to cognitive dysfunction through retardation of neuronal maturation and neurodegeneration. ..
  7. Konishi M, Yanagisawa S. Identification of a nitrate-responsive cis-element in the Arabidopsis NIR1 promoter defines the presence of multiple cis-regulatory elements for nitrogen response. Plant J. 2010;63:269-82 pubmed publisher
    ..These findings thus define the presence of multiple cis-elements involved in the nitrogen response in Arabidopsis. ..
  8. Ujike M, Ejima M, Anraku A, Shimabukuro K, Obuchi M, Kishida N, et al. Monitoring and characterization of oseltamivir-resistant pandemic (H1N1) 2009 virus, Japan, 2009-2010. Emerg Infect Dis. 2011;17:470-9 pubmed publisher
    ..No evidence of sustained spread of OR pandemic (H1N1) 2009 was found in Japan; however, 2 suspected incidents of human-to-human transmission were reported. ..
  9. Yoshida K, Sanada M, Shiraishi Y, Nowak D, Nagata Y, Yamamoto R, et al. Frequent pathway mutations of splicing machinery in myelodysplasia. Nature. 2011;478:64-9 pubmed publisher
    ..Our results provide the first evidence indicating that genetic alterations of the major splicing components could be involved in human pathogenesis, also implicating a novel therapeutic possibility for myelodysplasia...
  10. Watashi K, Liang G, Iwamoto M, Marusawa H, Uchida N, Daito T, et al. Interleukin-1 and tumor necrosis factor-? trigger restriction of hepatitis B virus infection via a cytidine deaminase activation-induced cytidine deaminase (AID). J Biol Chem. 2013;288:31715-27 pubmed publisher
    ..These results demonstrate that proinflammatory cytokines IL-1/TNF? trigger a novel antiviral mechanism involving AID to regulate host cell permissiveness to HBV infection...
  11. Ono Y, Ojima K, Shinkai Ouchi F, Hata S, Sorimachi H. An eccentric calpain, CAPN3/p94/calpain-3. Biochimie. 2016;122:169-87 pubmed publisher
    ..In this review, we describe significant findings about CAPN3 from its discovery to the present, and suggest promising avenues for future CAPN3 research. ..
  12. Nishiyama S, Takahashi Y, Yamamoto K, Suzuki D, Itoh Y, Sumita K, et al. Identification of a Vibrio cholerae chemoreceptor that senses taurine and amino acids as attractants. Sci Rep. 2016;6:20866 pubmed publisher
    ..Taken together, we conclude that Mlp37 serves as the major chemoreceptor for taurine and various amino acids. ..
  13. Sato A, Ouellet J, Muneta T, Glorieux F, Rauch F. Scoliosis in osteogenesis imperfecta caused by COL1A1/COL1A2 mutations - genotype-phenotype correlations and effect of bisphosphonate treatment. Bone. 2016;86:53-7 pubmed publisher
    ..The prevalence of scoliosis at maturity was not influenced by the bisphosphonate treatment history in any OI type. ..
  14. Takada Y, Kaneko N, Esumi H, Purdue P, Danpure C. Human peroxisomal L-alanine: glyoxylate aminotransferase. Evolutionary loss of a mitochondrial targeting signal by point mutation of the initiation codon. Biochem J. 1990;268:517-20 pubmed
  15. Shibata K, Hirasawa A, Moriyama N, Kawabe K, Ogawa S, Tsujimoto G. Alpha 1a-adrenoceptor polymorphism: pharmacological characterization and association with benign prostatic hypertrophy. Br J Pharmacol. 1996;118:1403-8 pubmed
    ..The study did not provide any evidence to support the hypothesis that alpha 1a-adrenoceptor gene polymorphism is associated with BPH. ..
  16. Yamanashi Y, Tamura T, Kanamori T, Yamane H, Nariuchi H, Yamamoto T, et al. Role of the rasGAP-associated docking protein p62(dok) in negative regulation of B cell receptor-mediated signaling. Genes Dev. 2000;14:11-6 pubmed
    ..We propose that p62(dok), a downstream target of many PTKs, plays a negative role in various signaling situations. ..
  17. Yoshikawa N, Makino Y, Okamoto K, Morimoto C, Makino I, Tanaka H. Distinct interaction of cortivazol with the ligand binding domain confers glucocorticoid receptor specificity: cortivazol is a specific ligand for the glucocorticoid receptor. J Biol Chem. 2002;277:5529-40 pubmed
    ..Thus, it is indicated that CVZ may not be only a molecular probe for the analysis of the redundancy between the GR and MR in vivo but also a useful reagent to clarify structure-function relationship of the GR LBD. ..
  18. Takayasu H, Motoi T, Kanamori Y, Kitano Y, Nakanishi H, Tange T, et al. Two case reports of childhood liver cell adenomas harboring beta-catenin abnormalities. Hum Pathol. 2002;33:852-5 pubmed
    ..Our report may be the first to describe the beta-catenin abnormalities in childhood liver cell adenoma. These findings imply that abnormalities of beta-catenin can be an early initiating event in human liver tumorigenesis. ..
  19. Hamamoto T, Beppu H, Okada H, Kawabata M, Kitamura T, Miyazono K, et al. Compound disruption of smad2 accelerates malignant progression of intestinal tumors in apc knockout mice. Cancer Res. 2002;62:5955-61 pubmed
    ..These results indicate that loss of Smad2 does not initiate tumorigenesis by itself but accelerates malignant progression of tumors to invasive cancer in the late stages of carcinogenesis. ..
  20. Yagasaki H, Oda T, Adachi D, Nakajima T, Nakahata T, Asano S, et al. Two common founder mutations of the fanconi anemia group G gene FANCG/XRCC9 in the Japanese population. Hum Mutat. 2003;21:555 pubmed
    ..The two founder mutations with distinct origins account for most of FANCG mutant alleles in the Japanese population. ..
  21. Abe Y, Kouyama K, Tomita T, Tomita Y, Ban N, Nawa M, et al. Analysis of neurons created from wild-type and Alzheimer's mutation knock-in embryonic stem cells by a highly efficient differentiation protocol. J Neurosci. 2003;23:8513-25 pubmed
    ..The strategy can be applied to create human neurons with AD or any other neurodegenerative disease by using human ES cells. ..
  22. Nakano T, Miyake K, Endo H, Dairi T, Mizukami T, Katsumata R. Identification and cloning of the gene involved in the final step of chlortetracycline biosynthesis in Streptomyces aureofaciens. Biosci Biotechnol Biochem. 2004;68:1345-52 pubmed publisher
    ..A conserved domain search of protein sequence databases indicated that TchA showed a similarity to FbiB, which is involved in the modification of FO in Mycobacterium bovis...
  23. Motose H, Sugiyama M, Fukuda H. A proteoglycan mediates inductive interaction during plant vascular development. Nature. 2004;429:873-8 pubmed
  24. Huang L, Gotoh N, Zhang S, Shibuya M, Yamamoto T, Tsuchida N. SNT-2 interacts with ERK2 and negatively regulates ERK2 signaling in response to EGF stimulation. Biochem Biophys Res Commun. 2004;324:1011-7 pubmed
    ..These observations suggest that SNT-2 negatively regulates ERK2 signaling activated via EGF stimulation through direct binding to ERK2. ..
  25. Yamashita A, Sato M, Fujita A, Yamamoto M, Toda T. The roles of fission yeast ase1 in mitotic cell division, meiotic nuclear oscillation, and cytokinesis checkpoint signaling. Mol Biol Cell. 2005;16:1378-95 pubmed
    ..Ase1, therefore, couples anaphase completion with cytokinesis upon cell division. ..
  26. Mori T, Kuroiwa H, Higashiyama T, Kuroiwa T. GENERATIVE CELL SPECIFIC 1 is essential for angiosperm fertilization. Nat Cell Biol. 2006;8:64-71 pubmed
    ..In addition, Arabidopsis thaliana GCS1 mutant gametes fail to fuse, resulting in male sterility and suggesting that GCS1 is a critical fertilization factor in angiosperms. ..
  27. Ohta A, Yang S, Rai T, Chiga M, Sasaki S, Uchida S. Overexpression of human WNK1 increases paracellular chloride permeability and phosphorylation of claudin-4 in MDCKII cells. Biochem Biophys Res Commun. 2006;349:804-8 pubmed
    ..Thus, increased chloride shunt may be involved in the pathogenesis of PHAII caused by WNK1 mutations. ..
  28. Okada N, Oi Y, Takeda Shitaka M, Kanou K, Umeyama H, Haneda T, et al. Identification of amino acid residues of Salmonella SlyA that are critical for transcriptional regulation. Microbiology. 2007;153:548-60 pubmed publisher
  29. Umeda Kameyama Y, Tsuda M, Ohkura C, Matsuo T, Namba Y, Ohuchi Y, et al. Thioredoxin suppresses Parkin-associated endothelin receptor-like receptor-induced neurotoxicity and extends longevity in Drosophila. J Biol Chem. 2007;282:11180-7 pubmed
    ..These results establish that Drosophila TRX can function as an anti-aging agent and as a suppressor of Pael-R- and poly-glutamine-induced neurotoxicity. ..
  30. Takahashi K, Saitoh M, Hoshino H, Mimaki M, Yokoyama Y, Takamizawa M, et al. A case of primary erythermalgia, wintry hypothermia and encephalopathy. Neuropediatrics. 2007;38:157-9 pubmed
    ..In addition to excessive cooling, a defect in central thermoregulation may have caused hypothermia in this patient. ..
  31. Takashima S, Ohno M, Hidaka M, Nakamura A, Masaki H, Uozumi T. Correlation between cellulose binding and activity of cellulose-binding domain mutants of Humicola grisea cellobiohydrolase 1. FEBS Lett. 2007;581:5891-6 pubmed
    ..Tyrosine works best in the middle of the flat surface, while tryptophan is the best residue in the two outer positions. ..
  32. Ohkuma A, Noguchi S, Sugie H, Malicdan M, Fukuda T, Shimazu K, et al. Clinical and genetic analysis of lipid storage myopathies. Muscle Nerve. 2009;39:333-42 pubmed publisher
    ..The 2 patients with PNPLA2 mutations had progressive, non-episodic muscle disease with rimmed vacuoles. This suggests there is a different pathomechanism from other LSMs. ..
  33. Shiba K, Arai T, Sato S, Kubo S, Ohba Y, Mizuno Y, et al. Parkin stabilizes PINK1 through direct interaction. Biochem Biophys Res Commun. 2009;383:331-5 pubmed publisher
    ..Our results indicate that Parkin regulates PINK1 stabilization via direct interaction with PINK1, and operates through a common pathway with PINK1 in the pathogenesis of early-onset PD. ..
  34. Minegishi Y. Hyper-IgE syndrome. Curr Opin Immunol. 2009;21:487-92 pubmed publisher
    ..These findings suggest that the defect in cytokine signaling constitutes the molecular basis for the immunological and nonimmunological abnormalities observed in HIES. ..
  35. Li L, Funayama M, Tomiyama H, Li Y, Yoshino H, Sasaki R, et al. No evidence for pathogenic role of GIGYF2 mutation in Parkinson disease in Japanese patients. Neurosci Lett. 2010;479:245-8 pubmed
    ..In summary, we found no evidence for PD-associated roles of GIGYF2 mutations. Our data suggest that GIGYF2 is unlikely to play a major role in PD in Japanese patients, similar to other populations. ..
  36. Sato T, Shimazaki T, Naka H, Fukami S, Satoh Y, Okano H, et al. FRS2? regulates Erk levels to control a self-renewal target Hes1 and proliferation of FGF-responsive neural stem/progenitor cells. Stem Cells. 2010;28:1661-73 pubmed publisher
    ..Thus, FRS2? fine-tunes the FGF-signaling to control qualitatively different biological activities, self-renewal at least partly through Hes1 versus proliferation of NSPCs. ..
  37. Haneda T, Sugimoto M, Yoshida Ohta Y, Kodera Y, Oh Ishi M, Maeda T, et al. Comparative proteomic analysis of Salmonella enterica serovar Typhimurium ppGpp-deficient mutant to identify a novel virulence protein required for intracellular survival in macrophages. BMC Microbiol. 2010;10:324 pubmed publisher
    ..Our results also provide evidence of a global response mediated by ppGpp in S. enterica. ..
  38. Ohbayashi I, Konishi M, Ebine K, Sugiyama M. Genetic identification of Arabidopsis RID2 as an essential factor involved in pre-rRNA processing. Plant J. 2011;67:49-60 pubmed publisher
    ..It can be inferred from these findings that RID2 contributes to the nucleolar activity for pre-rRNA processing, probably through some methylation reaction. ..
  39. Toyoda Hokaiwado N, Yasui Y, Muramatsu M, Masumura K, Takamune M, Yamada M, et al. Chemopreventive effects of silymarin against 1,2-dimethylhydrazine plus dextran sodium sulfate-induced inflammation-associated carcinogenicity and genotoxicity in the colon of gpt delta rats. Carcinogenesis. 2011;32:1512-7 pubmed publisher
    ..These results suggest that silymarin is chemopreventive against DMH/DSS-induced inflammation-associated colon carcinogenesis and silymarin might act as an antigenotoxic agent, in part. ..
  40. Nakai Y, Horiuchi J, Tsuda M, Takeo S, Akahori S, Matsuo T, et al. Calcineurin and its regulator sra/DSCR1 are essential for sleep in Drosophila. J Neurosci. 2011;31:12759-66 pubmed publisher
    ..Our results demonstrate that CN and its regulation by Sra are required for normal sleep in Drosophila and identify a critical role of Ca(2+)/calmodulin-dependent signaling in sleep regulation. ..
  41. Kobayashi Y, Harada A, Furuta B, Asou H, Kato U, Umeda M. The role of NADRIN, a Rho GTPase-activating protein, in the morphological differentiation of astrocytes. J Biochem. 2013;153:389-98 pubmed publisher
  42. Shimojima K, Tanaka R, Shimada S, Sangu N, Nakayama J, Iwasaki N, et al. A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus-Merzbacher-like disease. J Neurol Sci. 2013;330:123-6 pubmed publisher
    ..This study showed the advantage of the SNP genotyping microarray for detecting the origin of the mutation. ..
  43. Mizumoto J, Kikuchi Y, Nakanishi Y, Mouri N, Cai A, Ohta T, et al. ? subunit of Bacillus subtilis F1-ATPase relieves MgADP inhibition. PLoS ONE. 2013;8:e73888 pubmed publisher
    ..The ? subunit did not inhibit but activated BF1. We conclude that the ? subunit relieves BF1 from MgADP inhibition. ..
  44. Kato J, Nishimura Y, Imamura R, Niki H, Hiraga S, Suzuki H. New topoisomerase essential for chromosome segregation in E. coli. Cell. 1990;63:393-404 pubmed
    ..A topA mutation defective in topoisomerase I could be compensated by increasing both the parC and the parE gene dosage. It is suggested that the parC and parE genes code for the subunits of a new topoisomerase, named topo IV. ..
  45. Hiroyama M, Takenawa T. Isolation of a cDNA encoding human lysophosphatidic acid phosphatase that is involved in the regulation of mitochondrial lipid biosynthesis. J Biol Chem. 1999;274:29172-80 pubmed
    ..LPAP-stable transfected NIH 3T3 cells showed less phosphatidic acid, phosphatidylglycerol, and cardiolipin. These results suggested that LPAP regulates lipid metabolism in mitochondria via the hydrolysis of LPA to monoacylglycerol. ..
  46. Heo S, Tatebayashi K, Ohsugi I, Shimamoto A, Furuichi Y, Ikeda H. Bloom's syndrome gene suppresses premature ageing caused by Sgs1 deficiency in yeast. Genes Cells. 1999;4:619-25 pubmed
    ..We discuss a new model, which explains how Sgs1 or BLM helicase suppresses premature ageing in yeast. ..
  47. Kawakami Y, Wang X, Shofuda T, Sumimoto H, Tupesis J, Fitzgerald E, et al. Isolation of a new melanoma antigen, MART-2, containing a mutated epitope recognized by autologous tumor-infiltrating T lymphocytes. J Immunol. 2001;166:2871-7 pubmed
    ..Although transforming activity was not detected in the NIH-3T3 assay, MART-2 with the mutation in the P-loop may be involved in the generation of melanoma through a loss of GTP binding activity. ..
  48. Shinoura N, Sakurai S, Asai A, Kirino T, Hamada H. Co-transduction of Apaf-1 and caspase-9 augments etoposide-induced apoptosis in U-373MG glioma cells. Jpn J Cancer Res. 2001;92:467-74 pubmed
    ..Adv-mediated co-transduction of Apaf-1 and caspase-9 should render cancer cells highly sensitive to chemotherapy. ..
  49. Takasugi N, Takahashi Y, Morohashi Y, Tomita T, Iwatsubo T. The mechanism of gamma-secretase activities through high molecular weight complex formation of presenilins is conserved in Drosophila melanogaster and mammals. J Biol Chem. 2002;277:50198-205 pubmed
  50. Sasaki N, Kuroiwa H, Nishitani C, Takano H, Higashiyama T, Kobayashi T, et al. Glom is a novel mitochondrial DNA packaging protein in Physarum polycephalum and causes intense chromatin condensation without suppressing DNA functions. Mol Biol Cell. 2003;14:4758-69 pubmed
    ..Our results suggest that Glom is a new mitochondrial histone-like protein having a property to cause intense DNA condensation without suppressing DNA functions...
  51. Koyama H, Ito T, Nakanishi T, Kawamura N, Sekimizu K. Transcription elongation factor S-II maintains transcriptional fidelity and confers oxidative stress resistance. Genes Cells. 2003;8:779-88 pubmed
    ..These results suggest that S-II confers oxidative stress resistance by providing an mRNA proof-reading mechanism during transcription elongation. ..
  52. Yumoto F, Lu Q, Morimoto S, Tanaka H, Kono N, Nagata K, et al. Drastic Ca2+ sensitization of myofilament associated with a small structural change in troponin I in inherited restrictive cardiomyopathy. Biochem Biophys Res Commun. 2005;338:1519-26 pubmed
  53. Saito R, Sato K, Kumita W, Inami N, Nishiyama H, Okamura N, et al. Role of type II topoisomerase mutations and AcrAB efflux pump in fluoroquinolone-resistant clinical isolates of Proteus mirabilis. J Antimicrob Chemother. 2006;58:673-7 pubmed
    ..We conducted a study to determine the role played by amino acid mutations in DNA gyrase and topoisomerase IV, and the AcrAB efflux pump in resistance to fluoroquinolones in clinical isolates of Proteus mirabilis...
  54. Nakazawa Y, Hiraguri A, Moriyama H, Fukuhara T. The dsRNA-binding protein DRB4 interacts with the Dicer-like protein DCL4 in vivo and functions in the trans-acting siRNA pathway. Plant Mol Biol. 2007;63:777-85 pubmed
    ..These results indicate that DRB4, together with DCL4, functions in the ta-siRNA biogenesis. ..
  55. Arimura T, Matsumoto Y, Okazaki O, Hayashi T, Takahashi M, Inagaki N, et al. Structural analysis of obscurin gene in hypertrophic cardiomyopathy. Biochem Biophys Res Commun. 2007;362:281-7 pubmed
    ..Myc-tagged obscurin showed that Arg4344Gln impaired obscurin localization to Z-band. These observations suggest that the obscurin abnormality may be involved in the pathogenesis of HCM. ..
  56. Kuratani M, Bessho Y, Nishimoto M, Grosjean H, Yokoyama S. Crystal structure and mutational study of a unique SpoU family archaeal methylase that forms 2'-O-methylcytidine at position 56 of tRNA. J Mol Biol. 2008;375:1064-75 pubmed publisher
    ..However, an essential Arg16 residue is located at a novel position within motif I. Biochemical assays showed that aTrm56 prefers the L-shaped tRNA to the lambda form as its substrate...
  57. Konno S, Murata M, Toda T, Yoshii Y, Nakazora H, Nomoto N, et al. Familial Creutzfeldt-Jakob Disease with a codon 200 mutation presenting as thalamic syndrome: diagnosis by single photon emission computed tomography using (99m)Tc-ethyl cysteinate dimer. Intern Med. 2008;47:65-7 pubmed
    ..We conclude that the thalamic form of CJD tends to show no high-intensity area (HIA) by MRI-DWI, and that SPECT may be more useful for visualizing the affected area responsible for the thalamic symptoms at an early stage. ..
  58. Miyanaga A, Gemma A, Ando M, Kosaihira S, Noro R, Minegishi Y, et al. E-cadherin expression and epidermal growth factor receptor mutation status predict outcome in non-small cell lung cancer patients treated with gefitinib. Oncol Rep. 2008;19:377-83 pubmed
    ..In patients with surgically resected NSCLC tumors, the EGFR mutation status and E-cadherin staining can select patients who will benefit from gefitinib therapy. ..
  59. Shibata T, Kokubu A, Gotoh M, Ojima H, Ohta T, Yamamoto M, et al. Genetic alteration of Keap1 confers constitutive Nrf2 activation and resistance to chemotherapy in gallbladder cancer. Gastroenterology. 2008;135:1358-1368, 1368.e1-4 pubmed publisher
    ..Aberrant Nrf2 activation provoked by Keap1 alteration is one of the molecular mechanisms for chemotherapeutic resistance in GBC and will be a novel therapeutic target as an enhancer of sensitivity to 5-FU-based regimens. ..
  60. Yamaguchi H, Hanawa H, Uchida N, Inamai M, Sawaguchi K, Mitamura Y, et al. Multistep pathogenesis of leukemia via the MLL-AF4 chimeric gene/Flt3 gene tyrosine kinase domain (TKD) mutation-related enhancement of S100A6 expression. Exp Hematol. 2009;37:701-14 pubmed publisher
    ..Moreover, anti-S100A6 small interfering RNA downregulated leukemic proliferation. We conclude that their synergistic enhancement of S100A6 expression plays an important role in MLL-AF4-associated leukemogenesis. ..
  61. Marushima K, Ohnishi Y, Horinouchi S. CebR as a master regulator for cellulose/cellooligosaccharide catabolism affects morphological development in Streptomyces griseus. J Bacteriol. 2009;191:5930-40 pubmed publisher
    ..Unexpectedly, the DeltacebR mutant formed very few aerial hyphae on lactose-containing medium, demonstrating a link between carbon source utilization and morphological development. ..
  62. Midorikawa T, Matsumoto K, Narikawa R, Ikeuchi M. An Rrf2-type transcriptional regulator is required for expression of psaAB genes in the cyanobacterium Synechocystis sp. PCC 6803. Plant Physiol. 2009;151:882-92 pubmed publisher
    ..These phenotypes of the mutant varied substantially with light conditions. These results suggest that Slr0846 is a novel transcriptional regulator for optimal expression of psaAB. ..
  63. Endo T, Manya H, Seta N, Guicheney P. POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies. Methods Enzymol. 2010;479:343-52 pubmed publisher
    ..This chapter describes the assay protocols to diagnose patients with alpha-dystroglycanopathy by measuring glycosyltransferase activity. ..
  64. Kimura S, Maruyama J, Watanabe T, Ito Y, Arioka M, Kitamoto K. In vivo imaging of endoplasmic reticulum and distribution of mutant ?-amylase in Aspergillus oryzae. Fungal Genet Biol. 2010;47:1044-54 pubmed publisher
    ..Based on these findings, we conclude that A. oryzae accumulates aberrant proteins toward basal hyphae while maintaining polarized tER sites for secretion of properly folded proteins at the hyphal tip. ..
  65. Toda T, Noda Y, Ito G, Maeda M, Shimizu T. Presenilin-2 mutation causes early amyloid accumulation and memory impairment in a transgenic mouse model of Alzheimer's disease. J Biomed Biotechnol. 2011;2011:617974 pubmed publisher
    ..These results suggest that the PS2 mutation causes early cerebral amyloid accumulation and memory dysfunction. PS2Tg2576 mice are a suitable mouse model for studying amyloid-lowering therapies. ..
  66. Fujiki R, Hashiba W, Sekine H, Yokoyama A, Chikanishi T, Ito S, et al. GlcNAcylation of histone H2B facilitates its monoubiquitination. Nature. 2011;480:557-60 pubmed publisher
    ..These findings suggest that H2B S112 GlcNAcylation is a histone modification that facilitates H2BK120 monoubiquitination, presumably for transcriptional activation. ..
  67. Ohno G, Ono K, Togo M, Watanabe Y, Ono S, Hagiwara M, et al. Muscle-specific splicing factors ASD-2 and SUP-12 cooperatively switch alternative pre-mRNA processing patterns of the ADF/cofilin gene in Caenorhabditis elegans. PLoS Genet. 2012;8:e1002991 pubmed publisher
  68. Morimura T, Numata Y, Nakamura S, Hirano E, Gotoh L, Goto Y, et al. Attenuation of endoplasmic reticulum stress in Pelizaeus-Merzbacher disease by an anti-malaria drug, chloroquine. Exp Biol Med (Maywood). 2014;239:489-501 pubmed publisher
    ..These findings indicate that chloroquine is an ER stress attenuator with potential use in treating PMD and possibly other ER stress-related diseases. ..
  69. Yamamoto T, Shimojima K, Yano T, Ueda Y, Takayama R, Ikeda H, et al. Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy. Brain Dev. 2016;38:280-4 pubmed publisher
    ..The four patients showed epileptic features consistent with STXBP1-related epileptic encephalopathy, but showed variable radiological findings, including brain volume loss and myelination delay. ..
  70. Ogiwara H, Sasaki M, Mitachi T, Oike T, Higuchi S, Tominaga Y, et al. Targeting p300 Addiction in CBP-Deficient Cancers Causes Synthetic Lethality by Apoptotic Cell Death due to Abrogation of MYC Expression. Cancer Discov. 2016;6:430-45 pubmed publisher
    ..Here, we propose a "synthetic lethal-based therapeutic strategy" for CBP-deficient cancers by inhibition of the p300 HAT activity. Patients with CBP-deficient cancers could benefit from therapy using p300-HAT inhibitors. ..
  71. Shimojima K, Okamoto N, Yamamoto T. A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasia. Am J Med Genet A. 2016;170A:1076-9 pubmed publisher
    ..Additional genotype-phenotype information should be accumulated for further understanding of the TUBB3 functional relevance. ..
  72. Orimo H, Hayashi Z, Watanabe A, Hirayama T, Shimada T. Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia. Hum Mol Genet. 1994;3:1683-4 pubmed
  73. Kuwahara M, Iwai K, Ooeda T, Igarashi T, Ogawa E, Katsushima Y, et al. Three families with autosomal dominant nephrogenic diabetes insipidus caused by aquaporin-2 mutations in the C-terminus. Am J Hum Genet. 2001;69:738-48 pubmed
    ..Segregation of the mutations in the C-terminus of AQP2 with dominant-type NDI underlies the importance of this domain in the intracellular trafficking of AQP2...
  74. Jimbo T, Kawasaki Y, Koyama R, Sato R, Takada S, Haraguchi K, et al. Identification of a link between the tumour suppressor APC and the kinesin superfamily. Nat Cell Biol. 2002;4:323-7 pubmed
    ..These results suggest that APC and beta-catenin are transported along microtubules by KAP3-KIF3A-KIF3B, accumulate in the tips of membrane protrusions, and may thus regulate cell migration. ..
  75. Matsui T, Kinoshita T, Hirano T, Yokota T, Miyajima A. STAT3 down-regulates the expression of cyclin D during liver development. J Biol Chem. 2002;277:36167-73 pubmed
    ..Thus, STAT3-mediated down-regulation of cyclin D expression is rather specific to fetal hepatocytes that are undergoing maturation processes including a reduction of their proliferation potential. ..
  76. Itoh Y, Hasebe M, Davies E, Takeda J, Ozeki Y. Survival of Tdc transposable elements of the En/Spm superfamily in the carrot genome. Mol Genet Genomics. 2003;269:49-59 pubmed
  77. Kato Y, Nishiyama K, Tokuda H. Depletion of SecDF-YajC causes a decrease in the level of SecG: implication for their functional interaction. FEBS Lett. 2003;550:114-8 pubmed
    ..SecDF-YajC inhibited disulfide bond formation between two SecG molecules possessing a single cysteine residue. These results suggest functional interaction between SecDF-YajC and SecG...
  78. Karamysheva Z, Karamyshev A, Ito K, Yokogawa T, Nishikawa K, Nakamura Y, et al. Antizyme frameshifting as a functional probe of eukaryotic translational termination. Nucleic Acids Res. 2003;31:5949-56 pubmed
    ..The system affords a convenient assay for release factor activity and has provided some novel views of the mechanism of antizyme frameshifting...
  79. Tanida I, Sou Y, Ezaki J, Minematsu Ikeguchi N, Ueno T, Kominami E. HsAtg4B/HsApg4B/autophagin-1 cleaves the carboxyl termini of three human Atg8 homologues and delipidates microtubule-associated protein light chain 3- and GABAA receptor-associated protein-phospholipid conjugates. J Biol Chem. 2004;279:36268-76 pubmed
    ..RNA interference of HsAtg4B increased the amount of LC3-PL in HEK293 cells. Taken together, these results suggest that HsAtg4B negatively regulates the localization of LC3 to a membrane compartment by delipidation. ..
  80. Goyama S, Yamaguchi Y, Imai Y, Kawazu M, Nakagawa M, Asai T, et al. The transcriptionally active form of AML1 is required for hematopoietic rescue of the AML1-deficient embryonic para-aortic splanchnopleural (P-Sp) region. Blood. 2004;104:3558-64 pubmed
    ..Thus, this experimental system will become a valuable tool to analyze the physiologic function and domain contribution of Runx proteins in hematopoiesis. ..
  81. Kage E, Hayashi Y, Takeuchi H, Hirotsu T, Kunitomo H, Inoue T, et al. MBR-1, a novel helix-turn-helix transcription factor, is required for pruning excessive neurites in Caenorhabditis elegans. Curr Biol. 2005;15:1554-9 pubmed
    ..These findings provide an important clue for further genetic dissection of neurite pruning. ..
  82. Yamagishi C, Yamagishi H, Maeda J, Tsuchihashi T, Ivey K, Hu T, et al. Sonic hedgehog is essential for first pharyngeal arch development. Pediatr Res. 2006;59:349-54 pubmed
    ..These results demonstrate that epithelial-mesenchymal signaling and transcriptional events coordinated by Shh, partly via Fgf8, is essential for cell survival and tissue outgrowth of the developing PA1. ..
  83. Tokairin Y, Kakinuma S, Arai M, Nishimura M, Okamoto M, Ito E, et al. Accelerated growth of intestinal tumours after radiation exposure in Mlh1-knockout mice: evaluation of the late effect of radiation on a mouse model of HNPCC. Int J Exp Pathol. 2006;87:89-99 pubmed
    ..As X-ray exposure promoted carcinogenesis of GIT in adult Mlh1-/- mice, an increased risk of secondary cancers after radiotherapy for HNPCC patients should be taken into consideration. ..
  84. Takano J, Wada M, Ludewig U, Schaaf G, von Wirén N, Fujiwara T. The Arabidopsis major intrinsic protein NIP5;1 is essential for efficient boron uptake and plant development under boron limitation. Plant Cell. 2006;18:1498-509 pubmed
    ..These results identify NIP5;1 as a major plasma membrane boric acid channel crucial for the B uptake required for plant growth and development under B limitation...
  85. Kobayakawa K, Kobayakawa R, Matsumoto H, Oka Y, Imai T, Ikawa M, et al. Innate versus learned odour processing in the mouse olfactory bulb. Nature. 2007;450:503-8 pubmed
    ..These results indicate that, in mice, aversive information is received in the olfactory bulb by separate sets of glomeruli, those dedicated for innate and those for learned responses. ..
  86. Nishihara T, Nagawa F, Imai T, Sakano H. RAG-heptamer interaction in the synaptic complex is a crucial biochemical checkpoint for the 12/23 recombination rule. J Biol Chem. 2008;283:4877-85 pubmed
    ..We propose that the RAG-7-mer interaction is a critical step for coding DNA distortion and hairpin formation in the context of the 12/23 rule. ..
  87. You Z, Masai H. Cdt1 forms a complex with the minichromosome maintenance protein (MCM) and activates its helicase activity. J Biol Chem. 2008;283:24469-77 pubmed publisher
    ..Thus, a productive interaction between Cdt1 and MCM appears to be essential for efficient loading of MCM onto template DNA, as well as for the efficient unwinding reaction. ..
  88. Watanabe Okochi N, Oki T, Komeno Y, Kato N, Yuji K, Ono R, et al. Possible involvement of RasGRP4 in leukemogenesis. Int J Hematol. 2009;89:470-481 pubmed publisher
    ..Thus, we have identified RasGRP4 as a gene potentially involved in leukemogenesis and suggest that RasGRP4 cooperates with AML1 mutations in T cell leukemogenesis as a class I mutation. ..
  89. Mitsui J, Mizuta I, Toyoda A, Ashida R, Takahashi Y, Goto J, et al. Mutations for Gaucher disease confer high susceptibility to Parkinson disease. Arch Neurol. 2009;66:571-6 pubmed publisher
    ..Heterozygous pathogenic variants in GBA confer a high risk for sporadic PD, even for familial clustering, and are associated with significantly earlier age at onset of disease. ..
  90. Imamura S, Terashita M, Ohnuma M, Maruyama S, Minoda A, Weber A, et al. Nitrate assimilatory genes and their transcriptional regulation in a unicellular red alga Cyanidioschyzon merolae: genetic evidence for nitrite reduction by a sulfite reductase-like enzyme. Plant Cell Physiol. 2010;51:707-17 pubmed publisher
    ..Immunofluorescent analysis indicated the localization of CMG021C in chloroplasts, and hence we propose an overall scheme for nitrate assimilation in C. merolae. ..
  91. Hachiya T, Noguchi K. Mutation of NRT1.1 enhances ammonium/low pH-tolerance in Arabiopsis thaliana. Plant Signal Behav. 2011;6:706-8 pubmed
    ..1 mutants will be revealed by paying attention to auxin behavior, phosphorylated status of NRT1.1 and other components related to the primary nitrate response and nitrate transport. ..
  92. Takahashi M, Katagiri T, Furuya H, Hohjoh H. Disease-causing allele-specific silencing against the ALK2 mutants, R206H and G356D, in fibrodysplasia ossificans progressiva. Gene Ther. 2012;19:781-5 pubmed publisher
    ..Thus, the siRNAs presented here may become novel therapeutic agents for FOP, and their induced ASP-RNAi may pave the way for the achievement of radical treatment of FOP and/or for the relief of its severe symptoms...