Genomes and Genes
Experts and Doctors on mutation in Kobe, Hyōgo, Japan
Locale: Kobe, Hyōgo, Japan
Publications115 found, 100 shown here
- Bae Y, Kani S, Shimizu T, Tanabe K, Nojima H, Kimura Y, et al. Anatomy of zebrafish cerebellum and screen for mutations affecting its development. Dev Biol. 2009;330:406-26 pubmed publisher..Our data provide a platform for future studies of zebrafish cerebellar development. ..
- Imagawa K, Fang Y, Sugiura R, Zhou X, Ma Y, Kuno T. Isolation of a fission yeast mutant cell affected in MAP kinase signaling and sterol biosynthesis. Kobe J Med Sci. 2009;55:E30-5 pubmed
- Mukai M, Kato H, Hira S, Nakamura K, Kita H, Kobayashi S. Innexin2 gap junctions in somatic support cells are required for cyst formation and for egg chamber formation in Drosophila. Mech Dev. 2011;128:510-23 pubmed publisher..Inx2 gap junctions may mediate the transfer of nutrients and signal molecules between germ cells and somatic support cells, as well as play a role in the regulation of cell adhesion. ..
- Moriyama T, Fujimitsu Y, Yoshikai Y, Sasano T, Yamada K, Murakami M, et al. SUMO-modification and elimination of the active DNA demethylation enzyme TDG in cultured human cells. Biochem Biophys Res Commun. 2014;447:419-24 pubmed publisher..Our findings provide insights into the in vivo dynamics of TDG SUMOylation and further clarify the TDG-RNF4 interaction. ..
- Nakamura T, Tateishi K, Niwa T, Matsushita Y, Tamura K, Kinoshita M, et al. Recurrent mutations of CD79B and MYD88 are the hallmark of primary central nervous system lymphomas. Neuropathol Appl Neurobiol. 2016;42:279-90 pubmed publisher..These hotspot mutations may serve as a genetic hallmark for PCNSL serving as a genetic marker for diagnose and potential targets for molecular therapy. ..
- Masanari M, Fujii S, Kawahara K, Oki H, Tsujino H, Maruno T, et al. Comparative study on stabilization mechanism of monomeric cytochrome c5 from deep-sea piezophilic Shewanella violacea. Biosci Biotechnol Biochem. 2016;80:2365-2370 pubmed..As SVcytc5 was isolated from a deep-sea piezophilic bacterium, the present comparative study indicates that adaptation of monomeric SVcytc5 to high pressure environments results in stabilization against heat. ..
- Nuvolone M, Paolucci M, Sorce S, Kana V, Moos R, Matozaki T, et al. Prion pathogenesis is unaltered in the absence of SIRP?-mediated "don't-eat-me" signaling. PLoS ONE. 2017;12:e0177876 pubmed publisher..It will be important to search for additional candidates mediating prion phagocytosis, as this mechanism may represent an important target of antiprion therapies. ..
- Shima F, Okada T, Kido M, Sen H, Tanaka Y, Tamada M, et al. Association of yeast adenylyl cyclase with cyclase-associated protein CAP forms a second Ras-binding site which mediates its Ras-dependent activation. Mol Cell Biol. 2000;20:26-33 pubmed..These results, taken together with those obtained with mammalian Raf, suggest the importance of the second Ras-binding site in effector regulation. ..
- Cortés J, Katoh Fukui R, Moto K, Ribas J, Ishiguro J. Schizosaccharomyces pombe Pmr1p is essential for cell wall integrity and is required for polarized cell growth and cytokinesis. Eukaryot Cell. 2004;3:1124-35 pubmed..Disruption and complementation analyses suggest that Pmr1p shares its function with a vacuolar Ca2+-ATPase homologue, Pmc1p (SPAPB2B4.04c), to prevent lethal activation of calcineurin for cell growth. ..
- Furuya M, Qadota H, Chisholm A, Sugimoto A. The C. elegans eyes absent ortholog EYA-1 is required for tissue differentiation and plays partially redundant roles with PAX-6. Dev Biol. 2005;286:452-63 pubmed..Thus, eya-1 appears to play a partially redundant role with pax-6 during C. elegans embryogenesis. ..
- He Y, Sugiura R, Ma Y, Kita A, Deng L, Takegawa K, et al. Genetic and functional interaction between Ryh1 and Ypt3: two Rab GTPases that function in S. pombe secretory pathway. Genes Cells. 2006;11:207-21 pubmed..These results suggest that Ryh1 is involved in the secretory pathway and may have a potential overlapping function with Ypt3 in addition to its role in recycling. ..
- Kakihara K, Shinmyozu K, Kato K, Wada H, Hayashi S. Conversion of plasma membrane topology during epithelial tube connection requires Arf-like 3 small GTPase in Drosophila. Mech Dev. 2008;125:325-36 pubmed
- Ikeya M, Nosaka T, Fukushima K, Kawada M, Furuta Y, Kitamura T, et al. Twisted gastrulation mutation suppresses skeletal defect phenotypes in Crossveinless 2 mutant mice. Mech Dev. 2008;125:832-42 pubmed publisher..We also present genetic evidence for the context-dependent functional relationship between Tsg and Cv2 during mouse development. ..
- Ohtani Y, Harada T, Funasaka Y, Nakao K, Takahara C, Abdel Daim M, et al. Metabotropic glutamate receptor subtype-1 is essential for in vivo growth of melanoma. Oncogene. 2008;27:7162-70 pubmed publisher..These findings suggest that growth of melanoma can be inhibited in vivo by eliminating only one of the multiple genetic anomalies involved in tumorigenesis. ..
- Bungyoku Y, Shoji I, Makine T, Adachi T, Hayashida K, Nagano Fujii M, et al. Efficient production of infectious hepatitis C virus with adaptive mutations in cultured hepatoma cells. J Gen Virol. 2009;90:1681-91 pubmed publisher..The J6/JFH1-derived mutant viruses presented here would be a good tool for producing HCV particles with enhanced infectivity and for studying the molecular mechanism of HCV entry. ..
- Nozu K, Iijima K, Kawai K, Nozu Y, Nishida A, Takeshima Y, et al. In vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutation. Hum Genet. 2009;126:533-8 pubmed publisher..These analytical assays could be adapted for all inherited kidney diseases. ..
- Jin Z, Okamoto S, Osakada F, Homma K, Assawachananont J, Hirami Y, et al. Modeling retinal degeneration using patient-specific induced pluripotent stem cells. PLoS ONE. 2011;6:e17084 pubmed publisher..Our results demonstrate that the use of patient-derived iPS cells will help to elucidate the pathogenic mechanisms caused by genetic mutations in RP. ..
- Ohmura T, Shioi G, Hirano M, Aizawa S. Neural tube defects by NUAK1 and NUAK2 double mutation. Dev Dyn. 2012;241:1350-64 pubmed publisher..In the double mutant neural plate, phosphorylated myosin light chain 2, F-actin, and cortactin did not concentrate efficiently in apical surfaces, and acetylated ?-tubulin-positive microtubules did not develop significantly. ..
- Ishiguro J, Shibahara K, Ueda Y, Nakamura K. Fission yeast TOR signaling is essential for the down-regulation of a hyperactivated stress-response MAP kinase under salt stress. Mol Genet Genomics. 2013;288:63-75 pubmed publisher..This finding may shed light on our understanding of a new stress-responsive mechanism in TOR signaling in higher organisms. ..
- Matsumoto M, Ogawa W, Hino Y, Furukawa K, Ono Y, Takahashi M, et al. Inhibition of insulin-induced activation of Akt by a kinase-deficient mutant of the epsilon isozyme of protein kinase C. J Biol Chem. 2001;276:14400-6 pubmed..These results suggest that epsilonKD inhibits the insulin-induced phosphorylation and activation of Akt by interfering with the ability of PDK1 to phosphorylate Akt. ..
- Jin T, Satoh T, Liao Y, Song C, Gao X, Kariya K, et al. Role of the CDC25 homology domain of phospholipase Cepsilon in amplification of Rap1-dependent signaling. J Biol Chem. 2001;276:30301-7 pubmed..These results suggest a pivotal role of the CDC25 homology domain in amplifying Rap1-dependent signal transduction, including the activation of PLCepsilon itself, at specific subcellular locations such as the Golgi apparatus. ..
- Nishioka N, Nagano S, Nakayama R, Kiyonari H, Ijiri T, Taniguchi K, et al. Ssdp1 regulates head morphogenesis of mouse embryos by activating the Lim1-Ldb1 complex. Development. 2005;132:2535-46 pubmed..These results suggest that Ssdp1 regulates the development of late head organizer tissues and body growth by functioning as an essential activator component of a Lim1 complex through interaction with Ldb1. ..
- Ishiguro J, Saitou A, Duran A, Ribas J. cps1+, a Schizosaccharomyces pombe gene homolog of Saccharomyces cerevisiae FKS genes whose mutation confers hypersensitivity to cyclosporin A and papulacandin B. J Bacteriol. 1997;179:7653-62 pubmed..Thus, the cps1+ product might be a catalytic or an associated copurifying subunit of the fission yeast 1,3-beta-D-glucan synthase that plays an essential role in cell wall synthesis. ..
- Nakayashiki H, Awa T, Tosa Y, Mayama S. The C-terminal chromodomain-like module in the integrase domain is crucial for high transposition efficiency of the retrotransposon MAGGY. FEBS Lett. 2005;579:488-92 pubmed..Our results indicate that the CLM may confer high transposition activity to the element. ..
- Adachi Yamada T, Harumoto T, Sakurai K, Ueda R, Saigo K, O Connor M, et al. Wing-to-Leg homeosis by spineless causes apoptosis regulated by Fish-lips, a novel leucine-rich repeat transmembrane protein. Mol Cell Biol. 2005;25:3140-50 pubmed..These data support a mechanism in which the lack of some membrane proteins helps to recognize the presence of different cell types and direct these cells to an apoptotic fate in order to exclude them from the normal developing field. ..
- Herini E, Gunadi -, van Kempen M, Yusoff S, Sutaryo -, Sunartini -, et al. Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy. Pediatr Int. 2010;52:234-9 pubmed publisher..The first cases of SMEI and SMEB are reported in South-East Asian populations. Two novel SCN1A mutations are also identified in these patients, p.V1612I and p.C1756G, which may lead to neuronal excitability or convulsions. ..
- Ryuko S, Ma Y, Ma N, Sakaue M, Kuno T. Genome-wide screen reveals novel mechanisms for regulating cobalt uptake and detoxification in fission yeast. Mol Genet Genomics. 2012;287:651-62 pubmed publisher..Altogether, our genome-wide study demonstrates for the first time the mechanisms of cobalt homeostasis, particularly its uptake and detoxification in fission yeast. ..
- Hinata N, Shirakawa T, Zhang Z, Matsumoto A, Fujisawa M, Okada H, et al. Radiation induces p53-dependent cell apoptosis in bladder cancer cells with wild-type- p53 but not in p53-mutated bladder cancer cells. Urol Res. 2003;31:387-96 pubmed..It was demonstrated that ionizing radiation induces p53-dependent cell apoptosis in bladder cancer cells with wt- p53 but not in those with mutated p53. ..
- Shimizu T, Yabe T, Muraoka O, Yonemura S, Aramaki S, Hatta K, et al. E-cadherin is required for gastrulation cell movements in zebrafish. Mech Dev. 2005;122:747-63 pubmed..These data suggest that E-cadherin-mediated cell adhesion between the DC and EVL plays a role in the epiboly movement in zebrafish. ..
- Ito M, Fukuzawa K, Mochizuki Y, Nakano T, Tanaka S. Ab initio fragment molecular orbital study of molecular interactions between liganded retinoid X receptor and its coactivator; part II: influence of mutations in transcriptional activation function 2 activating domain core on the molecular interactio. J Phys Chem A. 2008;112:1986-98 pubmed..Our findings suggest that the inhibitions of the local RXR-SRC1 interaction via AF2C and of the local CT from RXR to SRC1 via AF2C would be the possible causes for the marked decrease in the transcriptional activity of RXR. ..
- Watanabe T, Hosoya H, Yonemura S. Regulation of myosin II dynamics by phosphorylation and dephosphorylation of its light chain in epithelial cells. Mol Biol Cell. 2007;18:605-16 pubmed..We further found that myosin phosphatase or Zipper-interacting protein kinase localizes to stress fibers depending on the activity of myosin II ATPase. ..
- Takami Y, Takeshima Y, Awano H, Okizuka Y, Yagi M, Matsuo M. High incidence of electrocardiogram abnormalities in young patients with duchenne muscular dystrophy. Pediatr Neurol. 2008;39:399-403 pubmed publisher..The disease can be divided into two types: age-dependent and age-independent. Deep Q-waves and low RV5 + SV1 are proposed as markers of age-dependent cardiac complications. ..
- Shirai Y, Morioka S, Sakuma M, Yoshino K, Otsuji C, Sakai N, et al. Direct binding of RalA to PKC? and its crucial role in morphological change during keratinocyte differentiation. Mol Biol Cell. 2011;22:1340-52 pubmed publisher..These results provide a new insight into the molecular mechanism of cytoskeletal regulation leading to drastic change of cell shape. ..
- Nishida Y, Shima F, Sen H, Tanaka Y, Yanagihara C, Yamawaki Kataoka Y, et al. Coiled-coil interaction of N-terminal 36 residues of cyclase-associated protein with adenylyl cyclase is sufficient for its function in Saccharomyces cerevisiae ras pathway. J Biol Chem. 1998;273:28019-24 pubmed..These results indicate the coiled-coil mechanism as a basis of the CAP-adenylyl cyclase interaction. ..
- Matsumoto M, Ogawa W, Teshigawara K, Inoue H, Miyake K, Sakaue H, et al. Role of the insulin receptor substrate 1 and phosphatidylinositol 3-kinase signaling pathway in insulin-induced expression of sterol regulatory element binding protein 1c and glucokinase genes in rat hepatocytes. Diabetes. 2002;51:1672-80 pubmed..These results suggest that the IRS-1-PI 3-kinase pathway is essential for insulin-induced expression of SREBP-1c and glucokinase genes. ..
- Kubota Y, Sano M, Goda S, Suzuki N, Nishiwaki K. The conserved oligomeric Golgi complex acts in organ morphogenesis via glycosylation of an ADAM protease in C. elegans. Development. 2006;133:263-73 pubmed..Furthermore, COGC-3 requires MIG-17 activity for its action in DTC migration. Our findings demonstrate that COG complex-dependent glycosylation of an ADAM protease plays a crucial role in determining organ shape. ..
- Yokoi N, Hayashi C, Fujiwara Y, Wang H, Seino S. Genetic reconstitution of autoimmune type 1 diabetes with two major susceptibility genes in the rat. Diabetes. 2007;56:506-12 pubmed..The low incidence and delayed onset of the disease strongly suggest involvement of genetic modifiers; the congenic strain established in this study should be useful for the mapping and identification of such modifiers. ..
- Mizuno S, Nakazaki Y, Yoshida M, Watanabe Y. Orientation of the amino-terminal domain of ClpB affects the disaggregation of the protein. FEBS J. 2012;279:1474-84 pubmed publisher..These results indicate that the NTD supports the substrate binding of ClpB and that its conformational shift assists the threading and disaggregation of substrate proteins...
- Ma Y, Sugiura R, Zhang L, Zhou X, Takeuchi M, He Y, et al. Isolation of a fission yeast mutant that is sensitive to valproic acid and defective in the gene encoding Ric1, a putative component of Ypt/Rab-specific GEF for Ryh1 GTPase. Mol Genet Genomics. 2010;284:161-71 pubmed publisher..In conclusion, Ric1 is a putative component of GEF for Ryh1 and might be regulated by Vps15. Further studies are needed to reveal the mechanism underlying the regulation. ..
- Kim S, El Shamy A, Imoto S, Kim K, Ide Y, Deng L, et al. Prediction of response to pegylated interferon/ribavirin combination therapy for chronic hepatitis C genotype 1b and high viral load. J Gastroenterol. 2012;47:1143-51 pubmed publisher..IL28B minor and platelets <15 × 10(4)/mm(3) were significantly associated with NVR. Certain combinations of these factors improved SVR and NVR predictability and could, therefore, be used to design therapeutic strategies. ..
- Zhou X, Ma Y, Kato T, Kuno T. A measurable activation of the bZIP transcription factor Atf1 in a fission yeast strain devoid of stress-activated and cell integrity mitogen-activated protein kinase (MAPK) activities. J Biol Chem. 2012;287:23434-9 pubmed publisher..Further genetic and biological analyses revealed that the residual activation is caused by the activation of the cell wall integrity Pmk1 MAPK pathway and a redox-mediated activation of Atf1. ..
- Aoyama S, Shirakawa O, Ono H, Hashimoto T, Kajimoto Y, Maeda K. Mutation and association analysis of the DAP-1 gene with schizophrenia. Psychiatry Clin Neurosci. 2003;57:545-7 pubmed..The results do not provide evidence that the DAP-1 gene is involved in vulnerability to schizophrenia. ..
- Kanagawa M, Kobayashi K, Tajiri M, Manya H, Kuga A, Yamaguchi Y, et al. Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy. Cell Rep. 2016;14:2209-2223 pubmed publisher..These findings establish the molecular basis of mammalian Rbo5P glycosylation and provide insight into pathogenesis and therapeutic strategies in Î±-DG-associated diseases. ..
- Takata M, Ogawa W, Kitamura T, Hino Y, Kuroda S, Kotani K, et al. Requirement for Akt (protein kinase B) in insulin-induced activation of glycogen synthase and phosphorylation of 4E-BP1 (PHAS-1). J Biol Chem. 1999;274:20611-8 pubmed..These data suggest that Akt, but not PKClambda, is required for insulin activation of glycogen synthase and for insulin-induced phosphorylation of 4E-BP1. ..
- Hanyu Nakamura K, Kobayashi S, Nakamura A. Germ cell-autonomous Wunen2 is required for germline development in Drosophila embryos. Development. 2004;131:4545-53 pubmed..In somatic cells, Wun and Wun2 may provide a repulsive environment for pole cell migration by depleting this extracellular substrate. ..
- Mori T, Sakaue H, Iguchi H, Gomi H, Okada Y, Takashima Y, et al. Role of Krüppel-like factor 15 (KLF15) in transcriptional regulation of adipogenesis. J Biol Chem. 2005;280:12867-75 pubmed..Our observations thus demonstrate that KLF15 plays an essential role in adipogenesis in 3T3-L1 cells through its regulation of PPAR gamma expression. ..
- Gunadi -, Miura K, Ohta M, Sugano A, Lee M, Sato Y, et al. Two novel mutations in the ED1 gene in Japanese families with X-linked hypohidrotic ectodermal dysplasia. Pediatr Res. 2009;65:453-7 pubmed publisher..Thus, we identified two novel mutations, p.L40fsX100 and p.G381R, in ED1 of two XLHED patients. Simulation analysis suggested that the p.G381R mutation hampers binding of EDA to its receptor via alteration of overall EDA structure. ..
- Fujimoto D, Tomii K, Otoshi T, Kawamura T, Tamai K, Takeshita J, et al. Preexisting interstitial lung disease is inversely correlated to tumor epidermal growth factor receptor mutation in patients with lung adenocarcinoma. Lung Cancer. 2013;80:159-64 pubmed publisher..31; 95% CI, 2.12-5.20; P<0.001), and the absence of ILD (OR, 17.41; 95% CI, 3.54-315.34; P<0.001). This study showed that patients with pulmonary adenocarcinoma and ILD had a lower probability of carrying tumor EGFR mutations. ..
- Ikeda K, Van Vu B, Kadotani N, Tanaka M, Murata T, Shiina K, et al. Is the fungus Magnaporthe losing DNA methylation?. Genetics. 2013;195:845-55 pubmed publisher..Overall, our data suggest that MoDMT1 is not essential for the natural life cycle of the fungus and raise the possibility that the genus Magnaporthe may be losing the mechanism of DNA methylation on the evolutionary time scale. ..
- Masago K, Fujita S, Hata A, Okuda C, Kaji R, Katakami N, et al. PD-L1 Expression in Patients with Non-small Cell Lung Cancer. Anticancer Res. 2017;37:2269-2274 pubmed..We showed that tumor PD-L1 expression decreased in patients with NSCLC who received chemoradiotherapy and radiation resistance might be due to pre-treatment PD-L1 expression. ..
- Kotani K, Ogawa W, Matsumoto M, Kitamura T, Sakaue H, Hino Y, et al. Requirement of atypical protein kinase clambda for insulin stimulation of glucose uptake but not for Akt activation in 3T3-L1 adipocytes. Mol Cell Biol. 1998;18:6971-82 pubmed
- Hiraoka Y, Ding D, Yamamoto A, Tsutsumi C, Chikashige Y. Characterization of fission yeast meiotic mutants based on live observation of meiotic prophase nuclear movement. Chromosoma. 2000;109:103-9 pubmed
- Tanaka M, Nagano Fujii M, Deng L, Ishido S, Sada K, Hotta H. Single-point mutations of hepatitis C virus NS3 that impair p53 interaction and anti-apoptotic activity of NS3. Biochem Biophys Res Commun. 2006;340:792-9 pubmed
- Okada K, Tonaka N, Moriya Y, Norioka N, Sawamura Y, Matsumoto T, et al. Deletion of a 236 kb region around S 4-RNase in a stylar-part mutant S 4sm-haplotype of Japanese pear. Plant Mol Biol. 2008;66:389-400 pubmed publisher..Genomic PCR with a primer pair designed from the deletion junctions yielded a product specific for the S(4)sm-haplotype. The product could be useful as a maker for early selection of SC cultivars harboring the S(4)sm-haplotype...
- Izumikawa T, Koike T, Shiozawa S, Sugahara K, Tamura J, Kitagawa H. Identification of chondroitin sulfate glucuronyltransferase as chondroitin synthase-3 involved in chondroitin polymerization: chondroitin polymerization is achieved by multiple enzyme complexes consisting of chondroitin synthase family members. J Biol Chem. 2008;283:11396-406 pubmed publisher..Based on these results, we renamed CSGlcA-T chondroitin synthase-3 (ChSy-3). ..
- Sawada A, Kiyonari H, Ukita K, Nishioka N, Imuta Y, Sasaki H. Redundant roles of Tead1 and Tead2 in notochord development and the regulation of cell proliferation and survival. Mol Cell Biol. 2008;28:3177-89 pubmed publisher..These results suggest that Tead1 and Tead2 are functionally redundant, use YAP as a major coactivator, and support notochord maintenance as well as cell proliferation and survival in mouse development. ..
- Yamaji M, Tanaka T, Shigeta M, Chuma S, Saga Y, Saitou M. Functional reconstruction of NANOS3 expression in the germ cell lineage by a novel transgenic reporter reveals distinct subcellular localizations of NANOS3. Reproduction. 2010;139:381-93 pubmed publisher..These findings unveil the presence of distinct posttranscriptional regulations in PGCs soon after their specification, for which RNA-binding proteins such as NANOS3 and TIAL1 would play critical functions. ..
- Okizuka Y, Takeshima Y, Itoh K, Zhang Z, Awano H, Maruyama K, et al. Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD. BMC Med Genet. 2010;11:49 pubmed publisher..8 per million. To the best of our knowledge, this is the first study to demonstrate a low incidence of LGMD2C in the Japanese population. ..
- Ishiuchi T, Takeichi M. Willin and Par3 cooperatively regulate epithelial apical constriction through aPKC-mediated ROCK phosphorylation. Nat Cell Biol. 2011;13:860-6 pubmed publisher..Thus, we have uncovered a Willin/Par3-aPKC-ROCK pathway that controls epithelial apical morphology...
- Yamaoka M, Osawa S, Morinaga T, Takenaka S, Yoshida K. A cell factory of Bacillus subtilis engineered for the simple bioconversion of myo-inositol to scyllo-inositol, a potential therapeutic agent for Alzheimer's disease. Microb Cell Fact. 2011;10:69 pubmed publisher..However, this compound is relatively rare in nature, whereas another stereoisomer of inositol, myo-inositol, is abundantly available...
- Pujol F, Hodgson T, Martínez Corral I, Prats A, Devenport D, Takeichi M, et al. Dachsous1-Fat4 Signaling Controls Endothelial Cell Polarization During Lymphatic Valve Morphogenesis-Brief Report. Arterioscler Thromb Vasc Biol. 2017;37:1732-1735 pubmed publisher..Our data demonstrate that Fat4 and Dachsous1 are critical regulators of valve morphogenesis. This study highlights that valve defects may contribute to lymphedema in Hennekam syndrome caused by Fat4 mutations. ..
- Hu C, Kariya K, Okada T, Qi X, Song C, Kataoka T. Effect of phosphorylation on activities of Rap1A to interact with Raf-1 and to suppress Ras-dependent Raf-1 activation. J Biol Chem. 1999;274:48-51 pubmed
- Okada T, Hu C, Jin T, Kariya K, Yamawaki Kataoka Y, Kataoka T. The strength of interaction at the Raf cysteine-rich domain is a critical determinant of response of Raf to Ras family small GTPases. Mol Cell Biol. 1999;19:6057-64 pubmed..These results indicate that the strength of interaction with Ras and Rap1A at its CRD may be a critical determinant of regulation of the Raf kinase activity by the Ras family small GTPases. ..
- Isotani S, Hara K, Tokunaga C, Inoue H, Avruch J, Yonezawa K. Immunopurified mammalian target of rapamycin phosphorylates and activates p70 S6 kinase alpha in vitro. J Biol Chem. 1999;274:34493-8 pubmed
- Liao Y, Satoh T, Gao X, Jin T, Hu C, Kataoka T. RA-GEF-1, a guanine nucleotide exchange factor for Rap1, is activated by translocation induced by association with Rap1*GTP and enhances Rap1-dependent B-Raf activation. J Biol Chem. 2001;276:28478-83 pubmed
- Fujita M, Hawkinson D, King K, Hall D, Sakamoto H, Buechner M. The role of the ELAV homologue EXC-7 in the development of the Caenorhabditis elegans excretory canals. Dev Biol. 2003;256:290-301 pubmed..These data imply that EXC-7 protein may affect expression of sma-1 and other genes to effect proper development of the excretory canals. ..
- Mizumoto K, Sawa H. Cortical beta-catenin and APC regulate asymmetric nuclear beta-catenin localization during asymmetric cell division in C. elegans. Dev Cell. 2007;12:287-99 pubmed..Because beta-catenin and APC are localized to the cortex in many cell types in different species, our results suggest that these cortical proteins may regulate asymmetric divisions or Wnt signaling in other organisms as well. ..
- Fujita M, Takeshita H, Sawa H. Cyclin E and CDK2 repress the terminal differentiation of quiescent cells after asymmetric division in C. elegans. PLoS ONE. 2007;2:e407 pubmed..Our results suggest that the balance between the levels of CKI and cyclin E determines three distinct cell states: terminally differentiated, quiescent and uncommitted, and proliferating. ..
- Yoshida S, Ikehara N, Aoyama N, Shirasaka D, Sakashita M, Semba S, et al. Relationship of BRAF mutation, morphology, and apoptosis in early colorectal cancer. Int J Colorectal Dis. 2008;23:7-13 pubmed..In this study, the relationship between BRAF mutation and apoptosis is not so clear, but BRAF mutations and inhibition in apoptosis may play an important role in the developmental process of flat and depressed early colorectal cancer. ..
- Bessho H, Kondo N, Honda S, Kuno S, Negi A. Coding variant Met72Thr in the PEDF gene and risk of neovascular age-related macular degeneration and polypoidal choroidal vasculopathy. Mol Vis. 2009;15:1107-14 pubmed..The aim of this study was to validate the previously reported association of the PEDF Met72Thr variant in a well characterized Japanese population with neovascular AMD and PCV...
- Hata A, Katakami N, Fujita S, Kaji R, Imai Y, Takahashi Y, et al. Frequency of EGFR and KRAS mutations in Japanese patients with lung adenocarcinoma with features of the mucinous subtype of bronchioloalveolar carcinoma. J Thorac Oncol. 2010;5:1197-200 pubmed publisher..Conversely, the incidence of EGFR mutation is high and KRAS mutation is low in N-MBAC/AWBFs. Based on these findings, EGFR-TKIs may not be effective in patients with MBAC/AWBF. ..
- Nozu K, Iijima K, Kanda K, Nakanishi K, Yoshikawa N, Satomura K, et al. The pharmacological characteristics of molecular-based inherited salt-losing tubulopathies. J Clin Endocrinol Metab. 2010;95:E511-8 pubmed publisher..However, the terminology of Bartter syndrome and Gitelman syndrome does not always accurately reflect their pathophysiological basis or clinical presentation, and some patients are difficult to diagnose from their clinical presentations...
- Shibata Y, Uchida M, Takeshita H, Nishiwaki K, Sawa H. Multiple functions of PBRM-1/Polybromo- and LET-526/Osa-containing chromatin remodeling complexes in C. elegans development. Dev Biol. 2012;361:349-57 pubmed publisher..Our results show that the target selection by SWI/SNF-like complexes during C. elegans development is intricately regulated by accessory components...
- Sakuma M, Shirai Y, Yoshino K, Kuramasu M, Nakamura T, Yanagita T, et al. Novel PKC?-mediated phosphorylation site(s) on cofilin and their potential role in terminating histamine release. Mol Biol Cell. 2012;23:3707-21 pubmed
- Ma N, Liu Q, Zhang L, Henske E, Ma Y. TORC1 signaling is governed by two negative regulators in fission yeast. Genetics. 2013;195:457-68 pubmed publisher..Our data reveal that both Npr2 and Tsc2 negatively regulate TORC1 signaling, and Npr2, but not Tsc2, may be involved in the feedback loop of a nutrient-sensing pathway. ..
- Ishiguro J, Uhara Y, Kawahara K. Molecular cloning and characterization of a fission yeast gene responsible for supersensitivity to the spindle poison, isopropyl N-3-chlorophenyl carbamate. Jpn J Genet. 1994;69:671-8 pubmed..The disruption experiment suggests that the gene is an extragenic suppressor of cps3 mutation...
- Kajimoto T, Shirai Y, Sakai N, Yamamoto T, Matsuzaki H, Kikkawa U, et al. Ceramide-induced apoptosis by translocation, phosphorylation, and activation of protein kinase Cdelta in the Golgi complex. J Biol Chem. 2004;279:12668-76 pubmed..We demonstrate here that the targeting mechanism of PKCdelta, dual regulation of both its activation and translocation to the Golgi complex, is critical for the ceramide-induced apoptotic event. ..
- Kurokawa D, Kiyonari H, Nakayama R, Kimura Yoshida C, Matsuo I, Aizawa S. Regulation of Otx2 expression and its functions in mouse forebrain and midbrain. Development. 2004;131:3319-31 pubmed..At E10.5 Otx1-/-Otx2DeltaFM/DeltaFM mutants, in which Otx2 expression under the FM2 enhancer remained, exhibited almost complete loss of the entire diencephalon and mesencephalon; the telencephalon did, however, develop. ..
- Kani S, Oishi I, Yamamoto H, Yoda A, Suzuki H, Nomachi A, et al. The receptor tyrosine kinase Ror2 associates with and is activated by casein kinase Iepsilon. J Biol Chem. 2004;279:50102-9 pubmed..This indicates that autophosphorylation of Ror2 is required for full activation of its tyrosine kinase activity. These findings demonstrate a novel role for CKIepsilon in the regulation of Ror2 tyrosine kinase. ..
- Bai Y, Edamatsu H, Maeda S, Saito H, Suzuki N, Satoh T, et al. Crucial role of phospholipase Cepsilon in chemical carcinogen-induced skin tumor development. Cancer Res. 2004;64:8808-10 pubmed..These results indicate a crucial role of PLCepsilon in ras oncogene-induced de novo carcinogenesis and downstream signaling from TPA, introducing PLCepsilon as a candidate molecular target for the development of anticancer drugs. ..
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