27 research outputs found

    CaloCube: a novel calorimeter for high-energy cosmic rays in space

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    In order to extend the direct observation of high-energy cosmic rays up to the PeV region, highly performing calorimeters with large geometrical acceptance and high energy resolution are required. Within the constraint of the total mass of the apparatus, crucial for a space mission, the calorimeters must be optimized with respect to their geometrical acceptance, granularity and absorption depth. CaloCube is a homogeneous calorimeter with cubic geometry, to maximise the acceptance being sensitive to particles from every direction in space; granularity is obtained by relying on small cubic scintillating crystals as active elements. Different scintillating materials have been studied. The crystal sizes and spacing among them have been optimized with respect to the energy resolution. A prototype, based on CsI(Tl) cubic crystals, has been constructed and tested with particle beams. Some results of tests with different beams at CERN are presented.Comment: Seven pages, seven pictures. Proceedings of INSTR17 Novosibirs

    Curved Tails in Polymerization-Based Bacterial Motility

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    The curved actin ``comet-tail'' of the bacterium Listeria monocytogenes is a visually striking signature of actin polymerization-based motility. Similar actin tails are associated with Shigella flexneri, spotted-fever Rickettsiae, the Vaccinia virus, and vesicles and microspheres in related in vitro systems. We show that the torque required to produce the curvature in the tail can arise from randomly placed actin filaments pushing the bacterium or particle. We find that the curvature magnitude determines the number of actively pushing filaments, independent of viscosity and of the molecular details of force generation. The variation of the curvature with time can be used to infer the dynamics of actin filaments at the bacterial surface.Comment: 8 pages, 2 figures, Latex2

    Thrombocytogenesis by megakaryocyte; Interpretation by protoplatelet hypothesis

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    Serial transmission electron microscopy of human megakaryocytes (MKs) revealed their polyploidization and gradual maturation through consecutive transition in characteristics of various organelles and others. At the beginning of differentiation, MK with ploidy 32N, e.g., has 16 centrosomes in the cell center surrounded by 32N nucleus. Each bundle of microtubules (MTs) emanated from the respective centrosome supports and organizes 16 equally volumed cytoplasmic compartments which together compose one single 32N MK. During the differentiation, single centriole separated from the centriole pair, i.e., centrosome, migrates to the most periphery of the cell through MT bundle, corresponding to a half of the interphase array originated from one centrosome, supporting one “putative cytoplasmic compartment” (PCC). Platelet demarcation membrane (DM) is constructed on the boundary surface between neighbouring PCCs. Matured PCC, composing of a tandem array of platelet territories covered by a sheet of DM is designated as protoplatelet. Eventually, the rupture of MK results in release of platelets from protoplatelets

    Synchronization Options for Data Warehouse Designs

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    Altered microtubule equilibrium and impaired thrombus stability in mice lacking RanBP10

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    The crucial function of blood platelets in hemostasis is to prevent blood loss by stable thrombus formation. This process is driven by orchestrated mechanisms including several signal transduction cascades and morphologic transformations. The cytoplasmic microtubule modulator RanBP10 is a Ran and beta1-tubulin binding protein that is essential for platelet granule release and mice lacking RanBP10 harbor a severe bleeding phenotype. In this study, we demonstrate that RanBP10-nullizygous platelets show normal adhesion on collagen and von Willebrand factor under flow conditions. However, using a ferric chloride-induced arterial thrombosis model, the formation of stable thrombi was significantly impaired, preventing vessel occlusion or leading to recanalization and thromboembolization. Delta-granule secretion was normal in mutant mice, whereas platelet shape change in aggregometry was attenuated. Lack of RanBP10 leads to increased beta1-tubulin protein, which drives alpha-monomers into polymerized microtubules. In mutant platelets agonists failed to contract the peripheral marginal band or centralize granules. Pretreatment of wild-type platelets with taxol caused microtubule stabilization and phenocopied the attenuated shape change in response to collagen, suggesting that RanBP10 inhibits premature microtubule polymerization of beta1-tubulin and plays a pivotal role in thrombus stabilization

    Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.

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    We used exome sequencing to identify mutations in sideroflexin 4 (SFXN4) in two children with mitochondrial disease (the more severe case also presented with macrocytic anemia). SFXN4 is an uncharacterized mitochondrial protein that localizes to the mitochondrial inner membrane. sfxn4 knockdown in zebrafish recapitulated the mitochondrial respiratory defect observed in both individuals and the macrocytic anemia with megaloblastic features of the more severe case. In vitro and in vivo complementation studies with fibroblasts from the affected individuals and zebrafish demonstrated the requirement of SFXN4 for mitochondrial respiratory homeostasis and erythropoiesis. Our findings establish mutations in SFXN4 as a cause of mitochondriopathy and macrocytic anemia

    Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4

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    We used exome sequencing to identify mutations in sideroflexin 4 (SFXN4) in two children with mitochondrial disease (the more severe case also presented with macrocytic anemia). SFXN4 is an uncharacterized mitochondrial protein that localizes to the mitochondrial inner membrane. sfxn4 knockdown in zebrafish recapitulated the mitochondrial respiratory defect observed in both individuals and the macrocytic anemia with megaloblastic features of the more severe case. In vitro and in vivo complementation studies with fibroblasts from the affected individuals and zebrafish demonstrated the requirement of SFXN4 for mitochondrial respiratory homeostasis and erythropoiesis. Our findings establish mutations in SFXN4 as a cause of mitochondriopathy and macrocytic anemia. \ua9 2013 by The American Society of Human Genetics. All rights reserved

    Macrocytic Anemia And Mitochondriopathy Resulting From A Defect In Sideroflexin 4

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    We used exome sequencing to identify mutations in sideroflexin 4 (SFXN4) in two children with mitochondrial disease (the more severe case also presented with macrocytic anemia). SFXN4 is an uncharacterized mitochondrial protein that localizes to the mitochondrial inner membrane. sfxn4 knockdown in zebrafish recapitulated the mitochondrial respiratory defect observed in both individuals and the macrocytic anemia with megaloblastic features of the more severe case. In vitro and in vivo complementation studies with fibroblasts from the affected individuals and zebrafish demonstrated the requirement of SFXN4 for mitochondrial respiratory homeostasis and erythropoiesis. Our findings establish mutations in SFXN4 as a cause of mitochondriopathy and macrocytic anemia. © 2013 by The American Society of Human Genetics. All rights reserved.935906914AHA; American Heart Association; American Society of Hematology; 6-FY09-289; March of Dimes Foundation; DK085217; NIH; National Institutes of Health; T32 HL007574; NIH; National Institutes of Health; F32 DK098866; NIH; National Institutes of Health; R01 GM61721; NIH; National Institutes of Health; R01 GM097136; NIH; National Institutes of Health; P01 HD032062; NIH; National Institutes of Health; R01 DK070838; NIH; National Institutes of Health; P01 HL032262; NIH; National Institutes of HealthVafai, S.B., Mootha, V.K., Mitochondrial disorders as windows into an ancient organelle (2012) Nature, 491, pp. 374-383Aslinia, F., Mazza, J.J., Yale, S.H., Megaloblastic anemia and other causes of macrocytosis (2006) Clin. Med. Res., 4, pp. 236-241Dimauro, S., Servidei, S., Zeviani, M., Dirocco, M., Devivo, D.C., Didonato, S., Uziel, G., Johnsen, S.D., Cytochrome c oxidase deficiency in Leigh syndrome (1987) Ann. Neurol., 22, pp. 498-506Yu, H.C., Sloan, J.L., Scharer, G., Brebner, A., Quintana, A.M., Achilly, N.P., Manoli, I., Schneck, U., An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1 (2013) Am. J. Hum. Genet., 93, pp. 506-514Gherasim, C., Lofgren, M., Banerjee, R., Navigating the B(12) road: Assimilation, delivery, and disorders of cobalamin (2013) J. Biol. Chem., 288, pp. 13186-13193Nyhan, W.L., Disorders of purine and pyrimidine metabolism (2005) Mol. Genet. Metab., 86, pp. 25-33Lieber, D.S., Calvo, S.E., Shanahan, K., Slate, N.G., Liu, S., Hershman, S.G., Gold, N.B., Berry, G.T., Targeted exome sequencing of suspected mitochondrial disorders (2013) Neurology, 80, pp. 1762-1770Calvo, S.E., Compton, A.G., Hershman, S.G., Lim, S.C., Lieber, D.S., Tucker, E.J., Laskowski, A., Jaffe, D.B., Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing (2012) Sci. Transl. Med., 4, pp. 18r-10Mayr, J.A., Haack, T.B., Graf, E., Zimmermann, F.A., Wieland, T., Haberberger, B., Superti-Furga, A., Baumgartner, M.R., Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome (2012) Am. J. Hum. Genet., 90, pp. 314-320Haack, T.B., Haberberger, B., Frisch, E.M., Wieland, T., Iuso, A., Gorza, M., Strecker, V., Herberg, U., Molecular diagnosis in mitochondrial complex 1 deficiency using exome sequencing (2012) J. Med. Genet., 49, pp. 277-283Isken, O., Maquat, L.E., The multiple lives of NMD factors: Balancing roles in gene and genome regulation (2008) Nat. Rev. Genet., 9, pp. 699-712Paw, B.H., Tieu, P.T., Kaback, M.M., Lim, J., Neufeld, E.F., Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program (1990) Am. J. Hum. Genet., 47, pp. 698-705Farr, C.J., Saiki, R.K., Erlich, H.A., McCormick, F., Marshall, C.J., Analysis of RAS gene mutations in acute myeloid leukemia by polymerase chain reaction and oligonucleotide probes (1988) Proc. Natl. Acad. Sci. USA, 85, pp. 1629-1633Paw, B.H., Moskowitz, S.M., Uhrhammer, N., Wright, N., Kaback, M.M., Neufeld, E.F., Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase (1990) J. Biol. Chem., 265, pp. 9452-9457Pagliarini, D.J., Calvo, S.E., Chang, B., Sheth, S.A., Vafai, S.B., Ong, S.E., Walford, G.A., Chen, W.K., A mitochondrial protein compendium elucidates complex 1 disease biology (2008) Cell, 134, pp. 112-123Chen, W., Paradkar, P.N., Li, L., Pierce, E.L., Langer, N.B., Takahashi- Makise, N., Hyde, B.B., Paw, B.H., Abcb10 physically interacts with mitoferrin-1 (Slc25a37) to enhance its stability and function in the erythroid mitochondria (2009) Proc. Natl. Acad. Sci. USA, 106, pp. 16263-16268Fay, F.S., Taneja, K.L., Shenoy, S., Lifshitz, L., Singer, R.H., Quantitative digital analysis of diffuse and concentrated nuclear distributions of nascent transcripts, SC35 and poly(A) (1997) Exp. Cell Res., 231, pp. 27-37Chen, H.W., Rainey, R.N., Balatoni, C.E., Dawson, D.W., Troke, J.J., Wasiak, S., Hong, J.S., French, S.W., Mammalian polynucleotide phosphorylase is an intermembrane space Nase that maintains mitochondrial homeostasis (2006) Mol. Cell. Biol., 26, pp. 8475-8487Lieschke, G.J., Currie, P.D., Animal models of human disease: Zebrafish swim into view (2007) Nat. Rev. Genet., 8, pp. 353-367Cooney, J.D., Hildick-Smith, G.J., Shafizadeh, E., McBride, P.F., Carroll, K.J., Anderson, H., Shaw, G.C., Dalton, A.J., Teleost growth factor independence (gfi) genes differentially regulate successive waves of hematopoiesis (2013) Dev. Biol., 373, pp. 431-441Amigo, J.D., Yu, M., Troadec, M.B., Gwynn, B., Cooney, J.D., Lambert, A.J., Chi, N.C., Kaplan, J., Identification of distal cis- regulatory elements at mouse mitoferrin loci using zebrafish transgenesis (2011) Mol. Cell. Biol., 31, pp. 1344-1356Thon, J.N., Macleod, H., Begonja, A.J., Zhu, J., Lee, K.C., Mogilner, A., Hartwig, J.H., Italiano, Jr.J.E., Microtubule and cortical forces determine platelet size during vascular platelet production (2012) Nat Commun, 3, p. 852Pase, L., Layton, J.E., Kloosterman, W.P., Carradice, D., Waterhouse, P.M., Lieschke, G.J., MiR-451 regulates zebrafish erythroid maturation in vivo via its target gata2 (2009) Blood, 113, pp. 1794-1804Zhao, Y., Qin, W., Zhang, J.P., Hu, Z.Y., Tong, J.W., Ding, C.B., Peng, Z.G., Jiang, J.D., HCV IRES-mediated core expression in zebrafish (2013) PLoS ONE, 8, pp. e56985Ma, Y., Wu, M., Li, D., Li, X.Q., Li, P., Zhao, J., Luo, M.N., Ma, X., Embryonic developmental toxicity of selenite in zebrafish (Danio rerio) and prevention with folic acid (2012) Food Chem. Toxicol., 50, pp. 2854-2863Amigo, J.D., Ackermann, G.E., Cope, J.J., Yu, M., Cooney, J.D., Ma, D., Langer, N.B., Horsely, W., The role and regulation of friend of GATA-1 (FOG-1) during blood development in the zebrafish (2009) Blood, 114, pp. 4654-4663Bergmann, A.K., Campagna, D.R., McLoughlin, E.M., Agarwal, S., Fleming, M.D., Bottomley, S.S., Neufeld, E.J., Systematic molecular genetic analysis of congenital sideroblastic anemia: Evidence for genetic heterogeneity and identification of novel mutations (2010) Pediatr. Blood Cancer, 54, pp. 273-278Ganis, J.J., Hsia, N., Trompouki, E., De Jong, J.L., Dibiase, A., Lambert, J.S., Jia, Z., Sandstrom, R., Zebrafish globin switching occurs in two developmental stages and is controlled by the LCR (2012) Dev. Biol., 366, pp. 185-194Yu, D., Dos Santos, C.O., Zhao, G., Jiang, J., Amigo, J.D., Khandros, E., Dore, L.C., Zhang, Z., MiR-451 protects against erythroid oxidant stress by repressing 14-3-3zeta (2010) Genes Dev, 24, pp. 1620-1633Blanc, L., Ciciotte, S.L., Gwynn, B., Hildick-Smith, G.J., Pierce, E.L., Soltis, K.A., Cooney, J.D., Peters, L.L., Critical function for the Ras-GTPase activating protein RASA3 in vertebrate erythropoiesis and megakaryopoiesis (2012) Proc. Natl. Acad. Sci. USA, 109, pp. 12099-12104Shah, D.I., Takahashi-Makise, N., Cooney, J.D., Li, L., Schultz, I.J., Pierce, E.L., Narla, A., Medlock, A.E., Mitochondrial Atpif1 regulates haem synthesis in developing erythroblasts (2012) Nature, 491, pp. 608-612Kornblum, C., Nicholls, T.J., Haack, T.B., Schöler, S., Peeva, V., Danhauser, K., Hallmann, K., Iuso, A., Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease (2013) Nat. Genet., 45, pp. 214-219Finsterer, J., Hematological manifestations of primary mitochondrial disorders (2007) Acta Haematol, 118, pp. 88-98Riley, L.G., Cooper, S., Hickey, P., Rudinger-Thirion, J., McKenzie, M., Compton, A., Lim, S.C., Giegé, R., Mutation of the mitochondrial tyrosyl- tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia - MLASA syndrome (2010) Am. J. Hum. Genet., 87, pp. 52-59Fellman, V., The GRACILE syndrome, a neonatal lethal metabolic disorder with iron overload (2002) Blood Cells Mol. Dis., 29, pp. 444-450Fleming, M.D., Campagna, D.R., Haslett, J.N., Trenor III, C.C., Andrews, N.C., A mutation in a mitochondrial transmembrane protein is responsible for the pleiotropic hematological and skeletal phenotype of flexed-tail (f/f) mice (2001) Genes Dev, 15, pp. 652-657Hegde, S., Lenox, L.E., Lariviere, A., Porayette, P., Perry, J.M., Yon, M., Paulson, R.F., An intronic sequence mutated in flexed-tail mice regulates splicing of Smad5 (2007) Mamm. Genome, 18, pp. 852-860Miyake, S., Yamashita, T., Taniguchi, M., Tamatani, M., Sato, K., Tohyama, M., Identification and characterization of a novel mitochondrial tricarboxylate carrier (2002) Biochem. Biophys. Res. Commun., 295, pp. 463-468Soranzo, N., Spector, T.D., Mangino, M., Kuhnel, B., Rendon, A., Teumer, A., Willenborg, C., Li, M., A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium (2009) Nat. Genet., 41, pp. 1182-1190Van Der Harst, P., Zhang, W., Mateo Leach, I., Rendon, A., Verweij, N., Sehmi, J., Paul, D.S., Li, X., Seventy-five genetic loci influencing the human red blood cell (2012) Nature, 492, pp. 369-375Ganesh, S.K., Zakai, N.A., Van Rooij, F.J., Soranzo, N., Smith, A.V., Nalls, M.A., Chen, M.H., Dehghan, A., Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium (2009) Nat. Genet., 41, pp. 1191-1198Foo, J.N., Liu, J.J., Tan, E.K., Whole-genome and whole-exome sequencing in neurological diseases (2012) Nat Rev Neurol, 8, pp. 508-517Bras, J., Guerreiro, R., Hardy, J., Use of nextgeneration sequencing and other whole-genome strategies to dissect neurological disease (2012) Nat. Rev. Neurosci., 13, pp. 453-46

    Campagna Oceanografia Aeolian'07: 24 Ottobre - 26 Novembre

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    A fronte di un’intensa e profonda attività di ricerca, in ambito petrologico, vulcanologico, geochimico e geodinamico, in relazione all’evoluzione e alle caratteristiche del vulcanismo nell’area mediterranea, poco sforzo è stato speso per un’adeguata comprensione dei processi idrotermali che interessano aree estremamente complesse, dal punto di vista geologico, come quella del mar Tirreno meridionale. In quest’area insistono sistemi di bacini di retroarco e sistemi di roll back in corrispondenza di noti seamounts (Marsili, Palinuro, Vavilov), nonché attività magmatica tipica di arco di isole (in corrispondenza del gruppo delle Eolie) con magmatismo assai diverso in evoluzione verso un sistema calcalino alto in potassio. Al fine di individuare potenziali flussi idrotermali in suddetta zona, è stata instaurata una collaborazione tra i ricercatori del nostro Istituto ( IAMC-CNR di Napoli), e dell’Osservatorio Vesuviano (INGV) di Napoli, con il gruppo di ricercatori del NOAA di Seattle e del GNS neozelandese, considerati leader nel campo delle ricerche di plumes idrotermali in aree geodinamicamente attive del pianeta (Arco delle Marianne, Arco Egeo, area di Tonga, etc.). È stata, quindi, pianificata una campagna oceanografica focalizzata su un survey sistematico delle attività idrotermali potenzialmente presenti nell’area meridionale del Mar Tirreno
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