Works matching IS 09646906 AND DT 2014 AND VI 23 AND IP 25


Results: 27
    1

    The small GTPase Rab11 co-localizes with α-synuclein in intracellular inclusions and modulates its aggregation, secretion and toxicity.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 25, p. 6732, doi. 10.1093/hmg/ddu391
    By:
    • Chutna, Oldriska;
    • Gonçalves, Susana;
    • Villar-Piqué, Anna;
    • Guerreiro, Patrícia;
    • Marijanovic, Zrinka;
    • Mendes, Tiago;
    • Ramalho, José;
    • Emmanouilidou, Evangelia;
    • Ventura, Salvador;
    • Klucken, Jochen;
    • Barral, Duarte C.;
    • Giorgini, Flaviano;
    • Vekrellis, Kostas;
    • Outeiro, Tiago F.
    Publication type:
    Article
    2
    3
    4
    5

    Mutant cohesin drives chromosomal instability in early colorectal adenomas.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 25, p. 6773, doi. 10.1093/hmg/ddu394
    By:
    • Cucco, Francesco;
    • Servadio, Adele;
    • Gatti, Veronica;
    • Bianchi, Paolo;
    • Mannini, Linda;
    • Prodosmo, Andrea;
    • De Vitis, Elisa;
    • Basso, Gianluca;
    • Friuli, Alessandro;
    • Laghi, Luigi;
    • Soddu, Silvia;
    • Fontanini, Gabriella;
    • Musio, Antonio
    Publication type:
    Article
    6
    7

    Subscription Page.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 25, p. NP, doi. 10.1093/hmg/ddu601
    Publication type:
    Article
    8
    9
    10

    FTO genetic variants, dietary intake and body mass index: insights from 177 330 individuals.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 25, p. 6961, doi. 10.1093/hmg/ddu411
    By:
    • Qi, Qibin;
    • Kilpeläinen, Tuomas O.;
    • Downer, Mary K.;
    • Tanaka, Toshiko;
    • Smith, Caren E.;
    • Sluijs, Ivonne;
    • Sonestedt, Emily;
    • Chu, Audrey Y.;
    • Renström, Frida;
    • Lin, Xiaochen;
    • Ängquist, Lars H.;
    • Huang, Jinyan;
    • Liu, Zhonghua;
    • Li, Yanping;
    • Asif Ali, Muhammad;
    • Xu, Min;
    • Ahluwalia, Tarunveer Singh;
    • Boer, Jolanda M.A.;
    • Chen, Peng;
    • Daimon, Makoto
    Publication type:
    Article
    11
    12

    Deactivation of TBP contributes to SCA17 pathogenesis.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 25, p. 6878, doi. 10.1093/hmg/ddu410
    By:
    • Hsu, Tun-Chieh;
    • Wang, Cheng-Kuang;
    • Yang, Chun-Yen;
    • Lee, Li-Ching;
    • Hsieh-Li, Hsiu-Mei;
    • Ro, Long-Sun;
    • Chen, Chiung-Mei;
    • Lee-Chen, Guey-Jen;
    • Su, Ming-Tsan
    Publication type:
    Article
    13
    14

    Cover Page.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 25, p. NP, doi. 10.1093/hmg/ddu599
    Publication type:
    Article
    15

    Analysis of the ABCA4 genomic locus in Stargardt disease.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 25, p. 6797, doi. 10.1093/hmg/ddu396
    By:
    • Zernant, Jana;
    • Xie, Yajing (Angela);
    • Ayuso, Carmen;
    • Riveiro-Alvarez, Rosa;
    • Lopez-Martinez, Miguel-Angel;
    • Simonelli, Francesca;
    • Testa, Francesco;
    • Gorin, Michael B.;
    • Strom, Samuel P.;
    • Bertelsen, Mette;
    • Rosenberg, Thomas;
    • Boone, Philip M.;
    • Yuan, Bo;
    • Ayyagari, Radha;
    • Nagy, Peter L.;
    • Tsang, Stephen H.;
    • Gouras, Peter;
    • Collison, Frederick T.;
    • Lupski, James R.;
    • Fishman, Gerald A.
    Publication type:
    Article
    16

    Phosphorylation within the cysteine-rich region of dystrophin enhances its association with β-dystroglycan and identifies a potential novel therapeutic target for skeletal muscle wasting.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 25, p. 6697, doi. 10.1093/hmg/ddu388
    By:
    • Swiderski, Kristy;
    • Shaffer, Scott A.;
    • Gallis, Byron;
    • Odom, Guy L.;
    • Arnett, Andrea L.;
    • Scott Edgar, J.;
    • Baum, Dale M.;
    • Chee, Annabel;
    • Naim, Timur;
    • Gregorevic, Paul;
    • Murphy, Kate T.;
    • Moody, James;
    • Goodlett, David R.;
    • Lynch, Gordon S.;
    • Chamberlain, Jeffrey S.
    Publication type:
    Article
    17

    Trans-ethnic meta-analysis of white blood cell phenotypes.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 25, p. 6944
    By:
    • Keller, Margaux F.;
    • Reiner, Alexander P.;
    • Okada, Yukinori;
    • van Rooij, Frank J.A.;
    • Johnson, Andrew D.;
    • Chen, Ming-Huei;
    • Smith, Albert V.;
    • Morris, Andrew P.;
    • Tanaka, Toshiko;
    • Ferrucci, Luigi;
    • Zonderman, Alan B.;
    • Lettre, Guillaume;
    • Harris, Tamara;
    • Garcia, Melissa;
    • Bandinelli, Stefania;
    • Qayyum, Rehan;
    • Yanek, Lisa R.;
    • Becker, Diane M.;
    • Becker, Lewis C.;
    • Kooperberg, Charles
    Publication type:
    Article
    18

    p19-INK4d inhibits neuroblastoma cell growth, induces differentiation and is hypermethylated and downregulated in MYCN-amplified neuroblastomas.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 25, p. 6826, doi. 10.1093/hmg/ddu406
    By:
    • Dreidax, Daniel;
    • Bannert, Steffen;
    • Henrich, Kai-Oliver;
    • Schröder, Christina;
    • Bender, Sebastian;
    • Oakes, Christopher C.;
    • Lindner, Sven;
    • Schulte, Johannes H.;
    • Duffy, David;
    • Schwarzl, Thomas;
    • Saadati, Maral;
    • Ehemann, Volker;
    • Benner, Axel;
    • Pfister, Stefan;
    • Fischer, Matthias;
    • Westermann, Frank
    Publication type:
    Article
    19
    20

    Rare mutations associating with serum creatinine and chronic kidney disease.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 25, p. 6935, doi. 10.1093/hmg/ddu399
    By:
    • Sveinbjornsson, Gardar;
    • Mikaelsdottir, Evgenia;
    • Palsson, Runolfur;
    • Indridason, Olafur S.;
    • Holm, Hilma;
    • Jonasdottir, Aslaug;
    • Helgason, Agnar;
    • Sigurdsson, Snaevar;
    • Jonasdottir, Adalbjorg;
    • Sigurdsson, Asgeir;
    • Eyjolfsson, Gudmundur Ingi;
    • Sigurdardottir, Olof;
    • Magnusson, Olafur Th.;
    • Kong, Augustine;
    • Masson, Gisli;
    • Sulem, Patrick;
    • Olafsson, Isleifur;
    • Thorsteinsdottir, Unnur;
    • Gudbjartsson, Daniel F.;
    • Stefansson, Kari
    Publication type:
    Article
    21
    22
    23

    Contents Page.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 25, p. NP, doi. 10.1093/hmg/ddu598
    Publication type:
    Article
    24

    Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 25, p. 6746, doi. 10.1093/hmg/ddu392
    By:
    • Paraboschi, Elvezia M.;
    • Rimoldi, Valeria;
    • Soldà, Giulia;
    • Tabaglio, Tommaso;
    • Dall'Osso, Claudia;
    • Saba, Elena;
    • Vigliano, Marco;
    • Salviati, Alessandro;
    • Leone, Maurizio;
    • Benedetti, Maria D.;
    • Fornasari, Diego;
    • Saarela, Janna;
    • De Jager, Philip L.;
    • Patsopoulos, Nikolaos A.;
    • D'Alfonso, Sandra;
    • Gemmati, Donato;
    • Duga, Stefano;
    • Asselta, Rosanna
    Publication type:
    Article
    25
    26

    Editorial Board.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 25, p. NP, doi. 10.1093/hmg/ddu600
    Publication type:
    Article
    27

    A genome-wide association study identifies a novel locus at 6q22.1 associated with ulcerative colitis.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 25, p. 6927, doi. 10.1093/hmg/ddu398
    By:
    • Julià, Antonio;
    • Domènech, Eugeni;
    • Chaparro, María;
    • García-Sánchez, Valle;
    • Gomollón, Fernando;
    • Panés, Julián;
    • Mañosa, Míriam;
    • Barreiro-De Acosta, Manuel;
    • Gutiérrez, Ana;
    • Garcia-Planella, Esther;
    • Aguas, Mariam;
    • Muñoz, Fernando;
    • Esteve, Maria;
    • Mendoza, Juan L.;
    • Vera, Maribel;
    • Márquez, Lucía;
    • Tortosa, Raül;
    • López-Lasanta, María;
    • Alonso, Arnald;
    • Gelpí, Josep L.
    Publication type:
    Article