Works matching IS 09646906 AND DT 2017 AND VI 26 AND IP 12

Results: 15
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    REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 12, p. 2218, doi. 10.1093/hmg/ddx111
    By:
    • Veleri, Shobi;
    • Nellissery, Jacob;
    • Mishra, Bibhudatta;
    • Manjunath, Souparnika H.;
    • Brooks, Matthew J.;
    • Lijin Dong;
    • Kunio Nagashima;
    • Haohua Qian;
    • Chun Gao;
    • Sergeev, Yuri V.;
    • Xiu-Feng Huang;
    • Jia Qu;
    • Fan Lu;
    • Cideciyan, Artur V.;
    • Tiansen Li;
    • Zi-Bing Jin;
    • Fariss, Robert N.;
    • Ratnapriya, Rinki;
    • Jacobson, Samuel G.;
    • Swaroop, Anand
    Publication type:
    Article
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    A rare splice donor mutation in the haptoglobin gene associates with blood lipid levels and coronary artery disease.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 12, p. 2364, doi. 10.1093/hmg/ddx123
    By:
    • Bjornsson, Eythor;
    • Helgason, Hannes;
    • Halldorsson, Gisli;
    • Helgadottir, Anna;
    • Gylfason, Arnaldur;
    • Kehr, Birte;
    • Jonasdottir, Adalbjorg;
    • Jonasdottir, Aslaug;
    • Sigurdsson, Asgeir;
    • Oddsson, Asmundur;
    • Thorleifsson, Gudmar;
    • Magnusson, Olafur Th.;
    • Gretarsdottir, Solveig;
    • Zink, Florian;
    • Kristjansson, Ragnar P.;
    • Asgeirsdottir, Margret;
    • Swinkels, Dorine W.;
    • Kiemeney, Lambertus A.;
    • Eyjolfsson, Gudmundur I.;
    • Sigurdardottir, Olof
    Publication type:
    Article
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    Discovery of novel heart rate-associated loci using the Exome Chip.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 12, p. 2346, doi. 10.1093/hmg/ddx113
    By:
    • van den Berg, Marten E.;
    • Warren, Helen R.;
    • Cabrera, Claudia P.;
    • Verweij, Niek;
    • Mifsud, Borbala;
    • Haessler, Jeffrey;
    • Bihlmeyer, Nathan A.;
    • Yi-Ping Fu;
    • Weiss, Stefan;
    • Lin, Henry J.;
    • Grarup, Niels;
    • Ruifang Li-Gao;
    • Pistis, Giorgio;
    • Shah, Nabi;
    • Brody, Jennifer A.;
    • Müller-Nurasyid, Martina;
    • Honghuang Lin;
    • Hao Mei;
    • Smith, Albert V.;
    • Lyytikäinen, Leo-Pekka
    Publication type:
    Article
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    P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 12, p. 2207, doi. 10.1093/hmg/ddx110
    By:
    • Yaqun Zou;
    • Donkervoort, Sandra;
    • Salo, Antti M.;
    • Foley, A. Reghan;
    • Barnes, Aileen M.;
    • Ying Hu;
    • Makareeva, Elena;
    • Leach, Meganne E.;
    • Mohassel, Payam;
    • Dastgir, Jahannaz;
    • Deardorff, Matthew A.;
    • Cohn, Ronald D.;
    • DiNonno, Wendy O.;
    • Malfait, Fransiska;
    • Lek, Monkol;
    • Leikin, Sergey;
    • Marini, Joan C.;
    • Myllyharju, Johanna;
    • Bönnemann, Carsten G.
    Publication type:
    Article
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    EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 12, p. 2177, doi. 10.1093/hmg/ddx078
    By:
    • Miller, Emily E.;
    • Kobayashi, Gerson S.;
    • Musso, Camila M.;
    • Allen, Miranda;
    • Ishiy, Felipe A. A.;
    • de Caires Jr, Luiz Carlos;
    • Goulart, Ernesto;
    • Griesi-Oliveira, Karina;
    • Zechi-Ceide, Roseli M.;
    • Richieri-Costa, Antonio;
    • Bertola, Debora R.;
    • Passos-Bueno, Maria Rita;
    • Silver, Debra L.
    Publication type:
    Article
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