Genomes and Genes
Experts and Doctors on mutation in Saitama, Japan
Locale: Saitama, Japan
Publications113 found, 100 shown here
- Yanase S, Ishii N. Hyperoxia exposure induced hormesis decreases mitochondrial superoxide radical levels via Ins/IGF-1 signaling pathway in a long-lived age-1 mutant of Caenorhabditis elegans. J Radiat Res. 2008;49:211-8 pubmed..These data suggest that oxidative stress-inducible hormesis is associated with a reduction of the mitochondrial *O(2)(-) production by activation of the antioxidant system via the Ins/IGF-1 signaling pathway. ..
- Yamanaka T, Tosaki A, Miyazaki H, Kurosawa M, Furukawa Y, Yamada M, et al. Mutant huntingtin fragment selectively suppresses Brn-2 POU domain transcription factor to mediate hypothalamic cell dysfunction. Hum Mol Genet. 2010;19:2099-112 pubmed publisher..Our data indicate that functional suppression of Brn-2 together with a region-specific lack of compensation by Brn-1 mediates hypothalamic cell dysfunction by mutant Nhtt. ..
- Matsuoka S, Seki T, Matsumoto K, Hara H. Suppression of abnormal morphology and extracytoplasmic function sigma activity in Bacillus subtilis ugtP mutant cells by expression of heterologous glucolipid synthases from Acholeplasma laidlawii. Biosci Biotechnol Biochem. 2016;80:2325-2333 pubmed..These observations suggest that MGlcDG molecules are required for maintenance of B. subtilis cell shape and regulation of ECF sigmas, and DGlcDG regulates SigX activity. ..
- He J, Fujioka S, Li T, Kang S, Seto H, Takatsuto S, et al. Sterols regulate development and gene expression in Arabidopsis. Plant Physiol. 2003;131:1258-69 pubmed
- Yamaguchi S, Smith M, Brown R, Kamiya Y, Sun T. Phytochrome regulation and differential expression of gibberellin 3beta-hydroxylase genes in germinating Arabidopsis seeds. Plant Cell. 1998;10:2115-26 pubmed..Furthermore, our results suggest that each GA 3beta-hydroxylase gene plays a unique physiological role during light-induced seed germination. ..
- Ling F, Shibata T. Mhr1p-dependent concatemeric mitochondrial DNA formation for generating yeast mitochondrial homoplasmic cells. Mol Biol Cell. 2004;15:310-22 pubmed
- Ishikubo T, Akagi K, Kurosumi M, Yamaguchi K, Fujimoto T, Sakamoto H, et al. Immunohistochemical and mutational analysis of c-kit in gastrointestinal neuroendocrine cell carcinoma. Jpn J Clin Oncol. 2006;36:494-8 pubmed..The frequency of c-kit expression in gastrointestinal NEC was similar to that previously reported for pulmonary NEC. These findings suggest that c-kit inhibitor may be effective against some gastrointestinal NECs. ..
- Suzuki T, Inoue I, Yamagata T, Morita N, Furuichi T, Yamakawa K. Sequential expression of Efhc1/myoclonin1 in choroid plexus and ependymal cell cilia. Biochem Biophys Res Commun. 2008;367:226-33 pubmed publisher..Our findings raise "choroid plexusopathy" or "ciliopathy" as intriguing candidate cascades for the molecular pathology of epilepsies caused by the EFHC1 mutations. ..
- Abe T, Matsuyama T, Sekido S, Yamaguchi I, Yoshida S, Kameya T. Chlorophyll-deficient mutants of rice demonstrated the deletion of a DNA fragment by heavy-ion irradiation. J Radiat Res. 2002;43 Suppl:S157-61 pubmed..We found that one of the polymorphic spots was strongly linked to the albino phenotypic mutant derived from deleting of a DNA fragment, and demonstrated the high ability to detect of polymorphic regions by the RLGS method...
- Muramatsu M, Hihara Y. Characterization of high-light-responsive promoters of the psaAB genes in Synechocystis sp. PCC 6803. Plant Cell Physiol. 2006;47:878-90 pubmed..DNA gel mobility shift assays showed that at least five regions in psaAB promoters were responsible for the binding of putative regulatory protein factors. ..
- Tsuchida A, Yokoi N, Namae M, Fuse M, Masuyama T, Sasaki M, et al. Phenotypic characterization of the Komeda miniature rat Ishikawa, an animal model of dwarfism caused by a mutation in Prkg2. Comp Med. 2008;58:560-7 pubmed..The KMI strain is the first and only rat model with a confirmed mutation in Prkg2 and is a valuable model for studying dwarfism and longitudinal growth traits in humans and for functional studies of cGKII...
- Sun X, Hirai G, Ueki M, Hirota H, Wang Q, Hongo Y, et al. Identification of novel secreted fatty acids that regulate nitrogen catabolite repression in fission yeast. Sci Rep. 2016;6:20856 pubmed publisher..Finally, we demonstrated that the Agp3 amino acid transporter was involved in the adaptive growth. The data highlight a novel intra-species communication system for adaptation to environmental nutritional conditions in fission yeast. ..
- Mori T, Hirai M, Kuroiwa T, Miyagishima S. The functional domain of GCS1-based gamete fusion resides in the amino terminus in plant and parasite species. PLoS ONE. 2010;5:e15957 pubmed publisher..Those findings above indicate that the extracellular N-terminus alone is sufficient for GCS1-based gamete fusion. ..
- Ikeda A, Kajiwara K, Iwamoto K, Makino A, Kobayashi T, Mizuta K, et al. Complementation analysis reveals a potential role of human ARV1 in GPI anchor biosynthesis. Yeast. 2016;33:37-42 pubmed publisher..The results suggest that Arv1 function in GPI biosynthesis may be conserved in all eukaryotes, from yeast to humans. ..
- Ikemoto T, Takeshima H, Iino M, Endo M. Effect of calmodulin on Ca2+-induced Ca2+ release of skeletal muscle from mutant mice expressing either ryanodine receptor type 1 or type 3. Pflugers Arch. 1998;437:43-8 pubmed..These data suggest that multiple CaM-binding sites are involved in the differential effects on RyR-1 and RyR-3. These effects of CaM are important for the evaluation of the physiological roles of RyRs. ..
- Yatagai F. Mutations induced by heavy charged particles. Biol Sci Space. 2004;18:224-34 pubmed..Finally, applications of mutation detection systems for studies in space (section 3) are described, in which the carcinogenic effects of space environmental radiation are considered. ..
- Shima S, Aigaki T, Nojima T, Yamamoto D. Identification of trf2 mutants of Drosophila with defects in anterior spiracle eversion. Arch Insect Biochem Physiol. 2007;64:157-63 pubmed..Pupae of these mutant alleles show failure in anterior spiracle eversion, a hallmark of mutations in the loci associated with ecdysteroid signaling. ..
- Paiboonsukwong K, Ohbayashi F, Shiiba H, Aizawa E, Yamashita T, Mitani K. Correction of mutant Fanconi anemia gene by homologous recombination in human hematopoietic cells using adeno-associated virus vector. J Gene Med. 2009;11:1012-9 pubmed publisher..The results obtained in the present study indicate that AAV vectors may be applicable for gene correction therapy of inherited hematopoietic disorders. ..
- Yoshihara S, Omichi K, Yanazawa M, Kitamura K, Yoshihara Y. Arx homeobox gene is essential for development of mouse olfactory system. Development. 2005;132:751-62 pubmed..These findings suggest a likely role of Arx in regulating the expression of putative instructive signals produced in the olfactory bulb for the proper innervation of olfactory sensory axons. ..
- Hirama T, Shiono A, Egashira H, Kishi E, Hagiwara K, Nakamura H, et al. PCR-Based Rapid Identification System Using Bridged Nucleic Acids for Detection of Clarithromycin-Resistant Mycobacterium avium-M. intracellulare Complex Isolates. J Clin Microbiol. 2016;54:699-704 pubmed publisher..Therefore, unknown mechanisms affecting clarithromycin resistance remain to be elucidated. ..
- Imai Y, Soda M, Takahashi R. Parkin suppresses unfolded protein stress-induced cell death through its E3 ubiquitin-protein ligase activity. J Biol Chem. 2000;275:35661-4 pubmed
- Nakamoto H, Suzuki M, Kojima K. Targeted inactivation of the hrcA repressor gene in cyanobacteria. FEBS Lett. 2003;549:57-62 pubmed..The hrcA mutant which constitutively overexpressed GroEL displayed improved cellular thermotolerance and also reduced photobleaching of phycocyanin under heat stress conditions. ..
- Yamamoto M, Kakihana K, Ohashi K, Yamaguchi T, Tadokoro K, Akiyama H, et al. Serial monitoring of T315I BCR-ABL mutation by Invader assay combined with RT-PCR. Int J Hematol. 2009;89:482-488 pubmed publisher..8% at relapse). Thus, our new approach could be a useful tool to study the kinetics of mutant clones and the pharmacokinetics of drug resistance with regard to the T315I mutation. ..
- Saito T, Suemoto T, Brouwers N, Sleegers K, Funamoto S, Mihira N, et al. Potent amyloidogenicity and pathogenicity of A?43. Nat Neurosci. 2011;14:1023-32 pubmed publisher..These findings indicate that A?43, an overlooked species, is potently amyloidogenic, neurotoxic and abundant in vivo. ..
- Otsuru M, Yu Y, Mizoi J, Kawamoto Fujioka M, Wang J, Fujiki Y, et al. Mitochondrial phosphatidylethanolamine level modulates Cyt c oxidase activity to maintain respiration capacity in Arabidopsis thaliana rosette leaves. Plant Cell Physiol. 2013;54:1612-9 pubmed publisher..Thus, PECT1 regulates mitochondrial phosphatidylethanolamine levels, which are important for maintaining respiration capacity in Arabidopsis leaves during prolonged growth under short-day conditions. ..
- Zemskov E, Nukina N. Impaired degradation of PKCalpha by proteasome in a cellular model of Huntington's disease. Neuroreport. 2003;14:1435-8 pubmed..Our data suggest an impairment of the degradation of PKCalpha in HD 150Q cells. This impairment is likely to be connected with the sequestration of proteasome on mutant huntingtin aggregates. ..
- Matsuoka S, Chiba M, Tanimura Y, Hashimoto M, Hara H, Matsumoto K. Abnormal morphology of Bacillus subtilis ugtP mutant cells lacking glucolipids. Genes Genet Syst. 2011;86:295-304 pubmed..GFP-MreB protein was reduced in the ugtP mutant cells. We suggest that glucolipids are important for MreB isoforms to take on the configuration that appears as discrete dots and plays a role in shaping cells into straight rods. ..
- Higashi K, Ishikawa T, Ito T, Yonemura A, Shige H, Nakamura H. Association of a genetic variation in the beta 3-adrenergic receptor gene with coronary heart disease among Japanese. Biochem Biophys Res Commun. 1997;232:728-30 pubmed..This mutation was associated with coronary heart disease and obesity but was not with glucose and lipid metabolism disorders in Japanese nationals. ..
- Ohta K, Nicolas A, Furuse M, Nabetani A, Ogawa H, Shibata T. Mutations in the MRE11, RAD50, XRS2, and MRE2 genes alter chromatin configuration at meiotic DNA double-stranded break sites in premeiotic and meiotic cells. Proc Natl Acad Sci U S A. 1998;95:646-51 pubmed
- Masai I, Lele Z, Yamaguchi M, Komori A, Nakata A, Nishiwaki Y, et al. N-cadherin mediates retinal lamination, maintenance of forebrain compartments and patterning of retinal neurites. Development. 2003;130:2479-94 pubmed..Although in vitro studies have implicated Fgf receptors in modulating the axon outgrowth promoting properties of Ncad, most aspects of the Ncad mutant phenotype are not phenocopied by treatments that block Fgf receptor function. ..
- Ikeda K, Ogawa S, Tsukui T, Horie Inoue K, Ouchi Y, Kato S, et al. Protein phosphatase 5 is a negative regulator of estrogen receptor-mediated transcription. Mol Endocrinol. 2004;18:1131-43 pubmed..We present the first evidence that PP5 functions as an inhibitory regulator of ER phosphorylation and transcriptional activation in vivo. ..
- Inoue H, Suzuki D, Asai K. A putative bactoprenol glycosyltransferase, CsbB, in Bacillus subtilis activates SigM in the absence of co-transcribed YfhO. Biochem Biophys Res Commun. 2013;436:6-11 pubmed publisher..Reduction of bactoprenol synthesis causes similar effects as expression of CsbB. We propose that it is the shortage of available bactoprenol within a cell that induces SigM activity. ..
- Kato R, Kawamura J, Sugawara H, Niikawa N, Matsumoto N. A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy. Am J Med Genet A. 2004;127A:54-7 pubmed..The diagnostic method we developed will provide a rapid and reliable diagnosis of FCMD, which can bring important information in genetic counseling, such as the accurate mode of inheritance, recurrence risk and a life expectancy. ..
- Uchisaka N, Takahashi N, Sato M, Kikuchi A, Mochizuki S, Imai K, et al. Two brothers with ataxia-telangiectasia-like disorder with lung adenocarcinoma. J Pediatr. 2009;155:435-8 pubmed publisher..They both had ataxia with cerebellar atrophy and mental retardation. They had the same mutation of the MRE11 gene, which has not been reported previously (c.727T>C and g.24994G>A)...
- Hatayama M, Tomizawa T, Sakai Kato K, Bouvagnet P, Kose S, Imamoto N, et al. Functional and structural basis of the nuclear localization signal in the ZIC3 zinc finger domain. Hum Mol Genet. 2008;17:3459-73 pubmed publisher..These results indicate that ZIC3 is imported into the cell nucleus by the Karyopherin (Importin) system and that the impaired nuclear localization by the ZF1 mutation is not due to a direct influence on the NLS. ..
- Tanaka H, Nojima Y, Shoji W, Sato M, Nakayama R, Ohshima T, et al. Islet1 selectively promotes peripheral axon outgrowth in Rohon-Beard primary sensory neurons. Dev Dyn. 2011;240:9-22 pubmed publisher..These data indicate that Dpysl3 is cooperating with Sema3d in the peripheral axon outgrowth, and Isl1 is required for the selective outgrowth of the peripheral axons of RB neurons by maintaining the expression of dpysl3. ..
- Sumida K, Inoue K, Takanashi J, Sasaki M, Watanabe K, Suzuki M, et al. The magnetic resonance imaging spectrum of Pelizaeus-Merzbacher disease: A multicenter study of 19 patients. Brain Dev. 2016;38:571-80 pubmed publisher..The spectrum of MRI findings should be kept in mind to diagnose PMD and to differentiate from other demyelinating leukodystrophies. ..
- Hirota K, Hasemi T, Yamada T, Mizuno K, Hoffman C, Shibata T, et al. Fission yeast global repressors regulate the specificity of chromatin alteration in response to distinct environmental stresses. Nucleic Acids Res. 2004;32:855-62 pubmed..Such a role for these proteins may serve as a paradigm for the regulation of stress response in higher eukaryotes. ..
- Sutani A, Nagai Y, Udagawa K, Uchida Y, Koyama N, Murayama Y, et al. Gefitinib for non-small-cell lung cancer patients with epidermal growth factor receptor gene mutations screened by peptide nucleic acid-locked nucleic acid PCR clamp. Br J Cancer. 2006;95:1483-9 pubmed..0135). A Cox proportional hazards model indicated that negative EGFR mutation was a secondary prognostic factor (hazards ratio: 2.259, P = 0.036). This research showed the need for screening for EGFR mutations in NSCLC patients. ..
- Singh B, Monteil A, Bidaud I, Sugimoto Y, Suzuki T, Hamano S, et al. Mutational analysis of CACNA1G in idiopathic generalized epilepsy. Mutation in brief #962. Online. Hum Mutat. 2007;28:524-5 pubmed..Our collective findings flag CACNA1G as a potential susceptibility locus for IGE subsyndromes that warrants closer investigation. ..
- Iwasato T, Katoh H, Nishimaru H, Ishikawa Y, Inoue H, Saito Y, et al. Rac-GAP alpha-chimerin regulates motor-circuit formation as a key mediator of EphrinB3/EphA4 forward signaling. Cell. 2007;130:742-53 pubmed..They also highlight the role of a Rho family GTPase-activating protein as a key mediator of ephrin/Eph signaling. ..
- Suzuki T, Miyamoto H, Nakahari T, Inoue I, Suemoto T, Jiang B, et al. Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility. Hum Mol Genet. 2009;18:1099-109 pubmed publisher..These observations seem to further suggest that decrease or loss of function of myoclonin1 may be the molecular basis for epilepsies caused by EFHC1 mutations. ..
- Uchiyama J, Nobue Y, Zhao H, Matsuzaki H, Nagahama H, Matsuoka S, et al. Involvement of sigmaS accumulation in repression of the flhDC operon in acidic phospholipid-deficient mutants of Escherichia coli. Microbiology. 2010;156:1650-60 pubmed publisher..The strong repression of flhD transcription in pgsA3 mutant cells is thus suggested to be caused by the accumulated sigma(S). ..
- Kubota A, Ito S, Shim J, Johnson R, Song Y, Breton G, et al. TCP4-dependent induction of CONSTANS transcription requires GIGANTEA in photoperiodic flowering in Arabidopsis. PLoS Genet. 2017;13:e1006856 pubmed publisher..Taken together, our results demonstrate a novel function of CIN-TCPs as photoperiodic flowering regulators, which may contribute to coordinating plant development with flowering regulation. ..
- Nakano T, Kanai Y, Amano Y, Yoshimoto T, Matsubara D, Shibano T, et al. Establishment of highly metastatic KRAS mutant lung cancer cell sublines in long-term three-dimensional low attachment cultures. PLoS ONE. 2017;12:e0181342 pubmed publisher..Long-term three-dimensional low attachment cultures may become a useful method for investigating the mechanisms underlying metastasis mediated by decreased cell-substratum adhesion. ..
- Ichikawa S, Sakiyama H, Suzuki G, Hidari K, Hirabayashi Y. Expression cloning of a cDNA for human ceramide glucosyltransferase that catalyzes the first glycosylation step of glycosphingolipid synthesis. Proc Natl Acad Sci U S A. 1996;93:4638-43 pubmed..5 kb, and the mRNA was widely expressed in organs. The amino acid sequence of ceramide glucosyltransferase shows no significant homology to ceramide galactosyltransferase, which indicates different evolutionary origins of these enzymes. ..
- Furuse M, Nagase Y, Tsubouchi H, Murakami Murofushi K, Shibata T, Ohta K. Distinct roles of two separable in vitro activities of yeast Mre11 in mitotic and meiotic recombination. EMBO J. 1998;17:6412-25 pubmed..DNA binding/double-strand break repair/DSB formation/Mre11/nuclease ..
- Kikuchi M, Yamada K, Toyota T, Yoshikawa T. C18orf1 located on chromosome 18p11.2 may confer susceptibility to schizophrenia. J Med Dent Sci. 2003;50:225-9 pubmed..021). These findings suggest that C18orf1 or a gene nearby may contribute to the overall genetic risk for schizophrenia. ..
- Iwamoto K, Bundo M, Yamada K, Takao H, Iwayama Shigeno Y, Yoshikawa T, et al. DNA methylation status of SOX10 correlates with its downregulation and oligodendrocyte dysfunction in schizophrenia. J Neurosci. 2005;25:5376-81 pubmed..Therefore, DNA methylation status of the SOX10 CpG island could be an epigenetic sign of oligodendrocyte dysfunction in schizophrenia. ..
- Shimojo M, Sahara N, Murayama M, Ichinose H, Takashima A. Decreased Abeta secretion by cells expressing familial Alzheimer's disease-linked mutant presenilin 1. Neurosci Res. 2007;57:446-53 pubmed..The elevated Abeta42/Abeta40 ratio observed with mutant PS1-expressing cells may be due to reduced Abeta40 production not increased Abeta42 production. ..
- Kohyama Koganeya A, Kim Y, Miura M, Hirabayashi Y. A Drosophila orphan G protein-coupled receptor BOSS functions as a glucose-responding receptor: loss of boss causes abnormal energy metabolism. Proc Natl Acad Sci U S A. 2008;105:15328-33 pubmed publisher..Thus, our study provides insight not only into the basic mechanisms of metabolic regulation but also into the pathobiological basis for diabetes and obesity. ..
- Kotake T, Aohara T, Hirano K, Sato A, Kaneko Y, Tsumuraya Y, et al. Rice Brittle culm 6 encodes a dominant-negative form of CesA protein that perturbs cellulose synthesis in secondary cell walls. J Exp Bot. 2011;62:2053-62 pubmed publisher..These results indicate that BC6 is a secondary cell wall-specific CesA that plays an important role in proper deposition of cellulose in the secondary cell walls. ..
- Kato M, Yasui N, Seki M, Kishimoto H, Sato Otsubo A, Hasegawa D, et al. Aggressive transformation of juvenile myelomonocytic leukemia associated with duplication of oncogenic KRAS due to acquired uniparental disomy. J Pediatr. 2013;162:1285-8, 1288.e1 pubmed publisher..We demonstrated that duplication of oncogenic KRAS is associated with rapid JMML progression...
- Sawake S, Tajima N, Mortimer J, Lao J, Ishikawa T, Yu X, et al. KONJAC1 and 2 Are Key Factors for GDP-Mannose Generation and Affect l-Ascorbic Acid and Glucomannan Biosynthesis in Arabidopsis. Plant Cell. 2015;27:3397-409 pubmed publisher..These results suggest that KJCs are key factors for the generation of GDP-Man and affect AsA level and glucomannan accumulation through the stimulation of VTC1 GMPP activity. ..
- Takane K, Akagi K, Fukuyo M, Yagi K, Takayama T, Kaneda A. DNA methylation epigenotype and clinical features of NRAS-mutation(+) colorectal cancer. Cancer Med. 2017;6:1023-1035 pubmed publisher..NRAS-mutation(+) CRC may constitute a different subgroup from KRAS-mutation(+) CRC, showing significant correlation with LME, older age, distal colon, and relatively better prognosis. ..
- Feichtinger R, Oláhová M, Kishita Y, Garone C, Kremer L, Yagi M, et al. Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. Am J Hum Genet. 2017;101:525-538 pubmed publisher..C1QBP deficiency represents an important mitochondrial disorder associated with a clinical spectrum ranging from infantile lactic acidosis to childhood (cardio)myopathy and late-onset progressive external ophthalmoplegia. ..
- Kikuchi S, Shibuya I, Matsumoto K. Viability of an Escherichia coli pgsA null mutant lacking detectable phosphatidylglycerol and cardiolipin. J Bacteriol. 2000;182:371-6 pubmed..This notion allows us to formulate a working model that defines the physiological functions of acidic phospholipids in E. coli and explains the suppressing effect of lipoprotein deficiency. ..
- Suzuki Y, Takahashi Niki K, Akagi T, Hashikawa T, Takahashi R. Mitochondrial protease Omi/HtrA2 enhances caspase activation through multiple pathways. Cell Death Differ. 2004;11:208-16 pubmed..These results indicate that protease activity of Omi/HtrA2 promotes caspase activation through multiple pathways. ..
- Kim Y, Nakatomi R, Akagi T, Hashikawa T, Takahashi R. Unsaturated fatty acids induce cytotoxic aggregate formation of amyotrophic lateral sclerosis-linked superoxide dismutase 1 mutants. J Biol Chem. 2005;280:21515-21 pubmed..These findings suggest that SOD1 mutants gain FA binding abilities based on their structural instability and form cytotoxic granular aggregates. ..
- Kakiuchi C, Ishiwata M, Nanko S, Kunugi H, Minabe Y, Nakamura K, et al. Association analysis of ATF4 and ATF5, genes for interacting-proteins of DISC1, in bipolar disorder. Neurosci Lett. 2007;417:316-21 pubmed..Contribution of common variations of ATF4 and ATF5 to the pathophysiology of bipolar disorder may be minimal if any. ..
- Iwamoto K, Hayakawa T, Murate M, Makino A, Ito K, Fujisawa T, et al. Curvature-dependent recognition of ethanolamine phospholipids by duramycin and cinnamycin. Biophys J. 2007;93:1608-19 pubmed..These results suggest that both duramycin and cinnamycin promote their binding to the PE-containing membrane by deforming membrane curvature...
- Saito T, Matsuba Y, Mihira N, Takano J, Nilsson P, Itohara S, et al. Single App knock-in mouse models of Alzheimer's disease. Nat Neurosci. 2014;17:661-3 pubmed publisher..The mice showed typical A? pathology, neuroinflammation and memory impairment in an age-dependent manner. ..
- Inoue H, Yoshioka T, Hotta Y. Membrane-associated phospholipase C of Drosophila retina. J Biochem. 1988;103:91-4 pubmed..The effects of pH on these two enzyme activities differed to some extent. ..
- Sakaguchi T, Nishimoto M, Miyagi S, Iwama A, Morita Y, Iwamori N, et al. Putative "stemness" gene jam-B is not required for maintenance of stem cell state in embryonic, neural, or hematopoietic stem cells. Mol Cell Biol. 2006;26:6557-70 pubmed..These results demonstrate that Jam-B is dispensable for normal mouse development and stem cell identity in embryonic, neural, and hematopoietic stem cells. ..
- Bauer P, Hudec R, Ozaki S, Okuno M, Ebisui E, Mikoshiba K, et al. Genetic ablation and chemical inhibition of IP3R1 reduce mutant huntingtin aggregation. Biochem Biophys Res Commun. 2011;416:13-7 pubmed publisher..Our findings suggest that besides functional contribution of the IP3R inhibition on the mutant htt aggregation there are additional mechanisms for the anti-aggregation effect of the 2-APB related compounds. ..
- Pujade Lauraine E, Ledermann J, Selle F, Gebski V, Penson R, Oza A, et al. Olaparib tablets as maintenance therapy in patients with platinum-sensitive, relapsed ovarian cancer and a BRCA1/2 mutation (SOLO2/ENGOT-Ov21): a double-blind, randomised, placebo-controlled, phase 3 trial. Lancet Oncol. 2017;18:1274-1284 pubmed publisher..Apart from anaemia, toxicities with olaparib were low grade and manageable. AstraZeneca. ..
- Sato K, Sato M, Nakano A. Rer1p, a retrieval receptor for endoplasmic reticulum membrane proteins, is dynamically localized to the Golgi apparatus by coatomer. J Cell Biol. 2001;152:935-44 pubmed..These findings not only give the proof that Rer1p is a novel type of retrieval receptor recognizing the TMD in the Golgi but also indicate that coatomer actively regulates the function and localization of Rer1p. ..
- Abe S, Yamaguchi T, Usami S. Application of deafness diagnostic screening panel based on deafness mutation/gene database using invader assay. Genet Test. 2007;11:333-40 pubmed
- Shimojo M, Sahara N, Mizoroki T, Funamoto S, Morishima Kawashima M, Kudo T, et al. Enzymatic characteristics of I213T mutant presenilin-1/gamma-secretase in cell models and knock-in mouse brains: familial Alzheimer disease-linked mutation impairs gamma-site cleavage of amyloid precursor protein C-terminal fragment beta. J Biol Chem. 2008;283:16488-96 pubmed publisher..Our results also provide novel insight into how enhancing the generation of longer Abetas may contribute to Alzheimer disease onset. ..
- Oshikawa M, Usami R, Kato S. Characterization of the arylsulfatase I (ARSI) gene preferentially expressed in the human retinal pigment epithelium cell line ARPE-19. Mol Vis. 2009;15:482-94 pubmed..Although ARSI may not be a causative gene for lysosomal storage diseases, preferentially expressed in the eye, ARSI would be a candidate gene causing inherited eye diseases for future mutation screening. ..
- Ohte S, Shin M, Sasanuma H, Yoneyama K, Akita M, Ikebuchi K, et al. A novel mutation of ALK2, L196P, found in the most benign case of fibrodysplasia ossificans progressiva activates BMP-specific intracellular signaling equivalent to a typical mutation, R206H. Biochem Biophys Res Commun. 2011;407:213-8 pubmed publisher..These findings suggest that ALK2(L196P) is an activated BMP receptor equivalent to ALK2(R206H) and that ALK2(L196P) activity may be suppressed in vivo by a novel molecular mechanism in patients with this mutation...
- Yamakawa K, Suzuki T. Re-evaluation of myoclonin1 immunosignals in neuron, mitotic spindle, and midbody--nonspecific?. Epilepsy Behav. 2013;28 Suppl 1:S61-2 pubmed publisher..Further investigations are required to clarify these discrepancies. ..
- Ferry L, Fournier A, Tsusaka T, Adelmant G, Shimazu T, Matano S, et al. Methylation of DNA Ligase 1 by G9a/GLP Recruits UHRF1 to Replicating DNA and Regulates DNA Methylation. Mol Cell. 2017;67:550-565.e5 pubmed publisher..These results further elucidate the function of UHRF1, identify a non-histone target of G9a and GLP, and provide an example of a histone mimic that coordinates DNA replication and DNA methylation maintenance. ..
- Shinozaki E, Yoshino T, Yamazaki K, Muro K, Yamaguchi K, Nishina T, et al. Clinical significance of BRAF non-V600E mutations on the therapeutic effects of anti-EGFR monoclonal antibody treatment in patients with pretreated metastatic colorectal cancer: the Biomarker Research for anti-EGFR monoclonal Antibodies by Comprehens. Br J Cancer. 2017;117:1450-1458 pubmed publisher..However, it is unclear whether BRAF mutations other than BRAFV600E (BRAFnon-V600E mutations) contribute to anti-EGFR antibody resistance...
- Fagiolini M, Fritschy J, Löw K, Mohler H, Rudolph U, Hensch T. Specific GABAA circuits for visual cortical plasticity. Science. 2004;303:1681-3 pubmed..This dissociation carries implications for models of brain development and the safe design of benzodiazepines for use in infants. ..
- Nagai Y, Miyazawa H, Huqun -, Tanaka T, Udagawa K, Kato M, et al. Genetic heterogeneity of the epidermal growth factor receptor in non-small cell lung cancer cell lines revealed by a rapid and sensitive detection system, the peptide nucleic acid-locked nucleic acid PCR clamp. Cancer Res. 2005;65:7276-82 pubmed..Genetic heterogeneity of EGFR suggests that the EGFR gene is unstable in established cancers and the heterogeneity may explain variable clinical responses of lung cancers to gefitinib. ..
- Kato A, Inoue H. Growth defect and mutator phenotypes of RecQ-deficient Neurospora crassa mutants separately result from homologous recombination and nonhomologous end joining during repair of DNA double-strand breaks. Genetics. 2006;172:113-25 pubmed
- Kotake T, Hojo S, Tajima N, Matsuoka K, Koyama T, Tsumuraya Y. A bifunctional enzyme with L-fucokinase and GDP-L-fucose pyrophosphorylase activities salvages free L-fucose in Arabidopsis. J Biol Chem. 2008;283:8125-35 pubmed publisher..These results indicate that AtFKGP is a bifunctional enzyme with L-fucokinase and GDP-L-Fuc pyrophosphorylase activities, which salvages free L-Fuc in Arabidopsis. ..
- Fukuda T, Kanomata K, Nojima J, Kokabu S, Akita M, Ikebuchi K, et al. A unique mutation of ALK2, G356D, found in a patient with fibrodysplasia ossificans progressiva is a moderately activated BMP type I receptor. Biochem Biophys Res Commun. 2008;377:905-9 pubmed publisher..The quantitative difference between ALK2(G356D) and ALK2(R206H) activities may have caused the phenotypic differences in these patients...
- Kitayama S, Kohoroku M, Takagi A, Itoh H. Mutation of D. radiodurans in a gene homologous to ruvB of E. coli. Mutat Res. 1997;385:151-7 pubmed..coli homologue. The mutant was transformed with exogenous DNA at the same rate as the wild-type cells, but it was moderately sensitive to UV, gamma-rays and to interstrand cross-linking reagents...
- Matsuda N, Nakano A. RMA1, an Arabidopsis thaliana gene whose cDNA suppresses the yeast sec15 mutation, encodes a novel protein with a RING finger motif and a membrane anchor. Plant Cell Physiol. 1998;39:545-54 pubmed..In Arabidopsis plant, RMA1 is ubiquitously expressed. A search for homologous proteins in the database revealed that Arabidopsis, nematode, mouse and human possess close homologues of RMA1. ..
- Senbongi H, Ling F, Shibata T. A mutation in a mitochondrial ABC transporter results in mitochondrial dysfunction through oxidative damage of mitochondrial DNA. Mol Gen Genet. 1999;262:426-36 pubmed..These observations indicate that spontaneous induction of petites in the atm1-1 mutant is a consequence of oxidative damage to mitochondrial DNA mediated by enhanced accumulation of mitochondrial iron...
- Sugawara T, Mazaki Miyazaki E, Fukushima K, Shimomura J, Fujiwara T, Hamano S, et al. Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. Neurology. 2002;58:1122-4 pubmed..The authors describe novel mutations of SCN1A in Japanese patients with SMEI. They screened 12 unrelated patients and a pair of monozygotic twins and detected 10 mutations that lead to truncation of the protein. ..
- Suzuki T, Morita R, Sugimoto Y, Sugawara T, Bai D, Alonso M, et al. Identification and mutational analysis of candidate genes for juvenile myoclonic epilepsy on 6p11-p12: LRRC1, GCLC, KIAA0057 and CLIC5. Epilepsy Res. 2002;50:265-75 pubmed..These analyses did not provide any evidences that these genes are responsible for the JME phenotype, and suggested that these may not be the EJM1 gene. ..
- Nozawa A, Takano J, Kobayashi M, von Wirén N, Fujiwara T. Roles of BOR1, DUR3, and FPS1 in boron transport and tolerance in Saccharomyces cerevisiae. FEMS Microbiol Lett. 2006;262:216-22 pubmed..Thus, BOR1, DUR3, and FPS1 appear to be involved in tolerance to boric acid and the maintenance of the protoplasmic boron concentration. ..