Works matching IS 09646906 AND DT 2016 AND VI 25 AND IP 18

Results: 19
    1

    A genome-wide association meta-analysis of diarrhoeal disease in young children identifies FUT2 locus and provides plausible biological pathways.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 18, p. 4127, doi. 10.1093/hmg/ddw264
    By:
    • Bustamante, Mariona;
    • Standl, Marie;
    • Bassat, Quique;
    • Vilor-Tejedor, Natalia;
    • Medina-Gomez, Carolina;
    • Bonilla, Carolina;
    • Ahluwalia, Tarunveer S.;
    • Bacelis, Jonas;
    • Bradfield, Jonathan P.;
    • Tiesler, Carla M. T.;
    • Rivadeneira, Fernando;
    • Ring, Susan;
    • Vissing, Nadja H.;
    • Fink, Nadia R.;
    • Jugessur, Astanand;
    • Mentch, Frank D.;
    • Ballester, Ferran;
    • Kriebel, Jennifer;
    • Kiefte-de Jong, Jessica C.;
    • Wolsk, Helene M.
    Publication type:
    Article
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    Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 18, p. 4062, doi. 10.1093/hmg/ddw245
    By:
    • Hartmannová, Hana;
    • Piherová, Lenka;
    • Tauchmannová, Kateřina;
    • Kidd, Kendrah;
    • Acott, Philip D.;
    • Crocker, John F. S.;
    • Oussedik, Youcef;
    • Mallet, Marcel;
    • Hodaňová, Kateřina;
    • Stránecky, Viktor;
    • Pristoupilová, Anna;
    • Barešová, Veronika;
    • Jedličková, Ivana;
    • Živná, Martina;
    • Sovová, Jana;
    • Hůlková, Helena;
    • Robins, Vicki;
    • Vrbacký, Marek;
    • Pecina, Petr;
    • Kaplanová, Vilma
    Publication type:
    Article
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    The chaperone HSPB8 reduces the accumulation of truncated TDP-43 species in cells and protects against TDP-43-mediated toxicity.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 18, p. 3908, doi. 10.1093/hmg/ddw232
    By:
    • Crippa, Valeria;
    • Cicardi, Maria Elena;
    • Ramesh, Nandini;
    • Seguin, Samuel J.;
    • Ganassi, Massimo;
    • Bigi, Ilaria;
    • Diacci, Chiara;
    • Zelotti, Elena;
    • Baratashvili, Madina;
    • Gregory, Jenna M.;
    • Dobson, Christopher M.;
    • Cereda, Cristina;
    • Pandey, Udai Bhan;
    • Poletti, Angelo;
    • Carra, Serena
    Publication type:
    Article
    11

    An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 18, p. 3998, doi. 10.1093/hmg/ddw240
    By:
    • Taylor, S. Paige;
    • Kunova Bosakova, Michaela;
    • Varecha, Miroslav;
    • Balek, Lukas;
    • Barta, Tomas;
    • Trantirek, Lukas;
    • Jelinkova, Iva;
    • Duran, Ivan;
    • Vesela, Iva;
    • Forlenza, Kimberly N.;
    • Martin, Jorge H.;
    • Hampl, Ales;
    • Bamshad, Michael;
    • Nickerson, Deborah;
    • Jaworski, Margie L.;
    • Jieun Song;
    • Hyuk Wan Ko;
    • Cohn, Daniel H.;
    • Krakow, Deborah;
    • Krejci, Pavel
    Publication type:
    Article
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    Pridopidine activates neuroprotective pathways impaired in Huntington Disease.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 18, p. 3975, doi. 10.1093/hmg/ddw238
    By:
    • Geva, Michal;
    • Kusko, Rebecca;
    • Soares, Holly;
    • Fowler, Kevin D.;
    • Birnberg, Tal;
    • Barash, Steve;
    • Merenlender-Wagner, Avia;
    • Fine, Tania;
    • Lysaght, Andrew;
    • BrianWeiner;
    • Yoonjeong Cha;
    • Kolitz, Sarah;
    • Towfic, Fadi;
    • Orbach, Aric;
    • Laufer, Ralph;
    • Zeskind, Ben;
    • Grossman, Iris;
    • Hayden, Michael R.
    Publication type:
    Article
    15
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    HDAC4: a key factor underlying brain developmental alterations in CDKL5 disorder.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 18, p. 3887, doi. 10.1093/hmg/ddw231
    By:
    • Trazzi, Stefania;
    • Fuchs, Claudia;
    • Viggiano, Rocchina;
    • De Franceschi, Marianna;
    • Valli, Emanuele;
    • Jedynak, Paulina;
    • Hansen, Finn K.;
    • Perini, Giovanni;
    • Rimondini, Roberto;
    • Kurz, Thomas;
    • Bartesaghi, Renata;
    • Ciani, Elisabetta
    Publication type:
    Article
    18

    Analysis with the exome array identifies multiple new independent variants in lipid loci.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 18, p. 4094, doi. 10.1093/hmg/ddw227
    By:
    • Kanoni, Stavroula;
    • Masca, Nicholas G. D.;
    • Stirrups, Kathleen E.;
    • Varga, Tibor V.;
    • Warren, Helen R.;
    • Scott, Robert A.;
    • Southam, Lorraine;
    • Zhang, Weihua;
    • Yaghootkar, Hanieh;
    • Müller-Nurasyid, Martina;
    • Couto Alves, Alexessander;
    • Strawbridge, Rona J.;
    • Lataniotis, Lazaros;
    • Hashim, Nikman An;
    • Besse, Céline;
    • Boland, Anne;
    • Braund, Peter S.;
    • Connell, John M.;
    • Dominiczak, Anna;
    • Farmaki, Aliki-Eleni
    Publication type:
    Article
    19