Works matching IS 09646906 AND DT 2017 AND VI 26 AND IP 6

Results: 16
    1

    CORRIGENDUM.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 6, p. 1217, doi. 10.1093/hmg/ddx072
    Publication type:
    Article
    2
    3

    Tetrahydrobiopterin deficiency in the pathogenesis of Fabry disease.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 6, p. 1182, doi. 10.1093/hmg/ddx032
    By:
    • Jin-Song Shen;
    • Arning, Erland;
    • West, Michael L.;
    • Day, Taniqua S.;
    • Shuyuan Chen;
    • Xing-Li Meng;
    • Forni, Sabrina;
    • McNeill, Nathan;
    • Goker-Alpan, Ozlem;
    • Xuan Wang;
    • Ashcraft, Paula;
    • Moore, David F.;
    • Seng H. Cheng;
    • Schiffmann, Raphael;
    • Bottiglieri, Teodoro
    Publication type:
    Article
    4

    Confirmation of five novel susceptibility loci for systemic lupus erythematosus (SLE) and integrated network analysis of 82 SLE susceptibility loci.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 6, p. 1205, doi. 10.1093/hmg/ddx026
    By:
    • Molineros, Julio E.;
    • Wanling Yang;
    • Xu-jie Zhou;
    • Sun, Celi;
    • Yukinori Okada;
    • Huoru Zhang;
    • Kek Heng Chua;
    • Yu-Lung Lau;
    • Yuta Kochi;
    • Akari Suzuki;
    • Kazuhiko Yamamoto;
    • Jianyang Ma;
    • So-Young Bang;
    • Hye-Soon Lee;
    • Kwangwoo Kim;
    • Sang-Cheol Bae;
    • Hong Zhang;
    • Nan Shen;
    • Looger, Loren L.;
    • Nath, Swapan K.
    Publication type:
    Article
    5
    6

    Genome-wide association of white blood cell counts in Hispanic/Latino Americans: the Hispanic Community Health Study/Study of Latinos.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 6, p. 1193, doi. 10.1093/hmg/ddx024
    By:
    • Jain, Deepti;
    • Hodonsky, Chani J.;
    • Schick, Ursula M.;
    • Morrison, Jean V.;
    • Minnerath, Sharon;
    • Brown, Lisa;
    • Schurmann, Claudia;
    • Yongmei Liu;
    • Auer, Paul L.;
    • Laurie, Cecelia A.;
    • Taylor, Kent D.;
    • Browning, Brian L.;
    • Papanicolaou, George;
    • Browning, Sharon R.;
    • Loos, Ruth J. F.;
    • North, Kari E.;
    • Thyagarajan, Bharat;
    • Laurie, Cathy C.;
    • Thornton, Timothy A.;
    • Sofer, Tamar
    Publication type:
    Article
    7
    8

    C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 6, p. 1133, doi. 10.1093/hmg/ddx022
    By:
    • Stopford, Matthew J.;
    • Higginbottom, Adrian;
    • Hautbergue, Guillaume M.;
    • Cooper-Knock, Johnathan;
    • Mulcahy, Padraig J.;
    • De Vos, Kurt J.;
    • Renton, Alan E.;
    • Pliner, Hannah;
    • Calvo, Andrea;
    • Chio, Adriano;
    • Traynor, Bryan J.;
    • Azzouz, Mimoun;
    • Heath, Paul R.;
    • Kirby, Janine;
    • Shaw, Pamela J.
    Publication type:
    Article
    9

    A novel humanized mouse model of Huntington disease for preclinical development of therapeutics targeting mutant huntingtin alleles.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 6, p. 1115, doi. 10.1093/hmg/ddx021
    By:
    • Southwell, Amber L.;
    • Skotte, Niels H.;
    • Villanueva, Erika B.;
    • Østergaard, Michael E.;
    • Xiaofeng Gu;
    • Kordasiewicz, Holly B.;
    • Kay, Chris;
    • Cheung, Daphne;
    • Yuanyun Xie;
    • Waltl, Sabine;
    • Dal Cengio, Louisa;
    • Findlay-Black, Hailey;
    • Doty, Crystal N.;
    • Petoukhov, Eugenia;
    • Iworima, Diepiriye;
    • Slama, Ramy;
    • Ooi, Jolene;
    • Pouladi, Mahmoud A.;
    • Yang, X. William;
    • Swayze, Eric E.
    Publication type:
    Article
    10
    11
    12

    Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 6, p. 1078, doi. 10.1093/hmg/ddx018
    By:
    • Lohmann, Katja;
    • Ikuo Masuho;
    • Patil, Dipak N.;
    • Baumann, Hauke;
    • Hebert, Eva;
    • Steinrücke, Sofia;
    • Trujillano, Daniel;
    • Skamangas, Nickolas K.;
    • Dobricic, Valerija;
    • Hüning, Irina;
    • Gillessen-Kaesbach, Gabriele;
    • Westenberger, Ana;
    • Savic-Pavicevic, Dusanka;
    • Münchau, Alexander;
    • Oprea, Gabriela;
    • Klein, Christine;
    • Rolfs, Arndt;
    • Martemyanov, Kirill A.
    Publication type:
    Article
    13
    14
    15
    16

    Novel UCHL1 mutations reveal new insights into ubiquitin processing.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 6, p. 1031, doi. 10.1093/hmg/ddx072
    By:
    • Rydning, Siri L.;
    • Backe, Paul H.;
    • Sousa, Mirta M. L.;
    • Iqbal, Zafar;
    • Øye, Ane-Marte;
    • Ying Sheng;
    • Mingyi Yang;
    • Xiaolin Lin;
    • Slupphaug, Geir;
    • Nordenmark, Tonje H.;
    • Vigeland, Magnus D.;
    • Bjørås, Magnar;
    • Tallaksen, Chantal M.;
    • Selmer, Kaja K.
    Publication type:
    Article