Works matching IS 09646906 AND DT 2013 AND VI 22 AND IP 19

Results: 22

Genetic and epigenetic variants contributing to clofarabine cytotoxicity.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 19, p. 4007, doi. 10.1093/hmg/ddt240

By:

Eadon, Michael T.;
Wheeler, Heather E.;
Stark, Amy L.;
Zhang, Xu;
Moen, Erika L.;
Delaney, Shannon M.;
Im, Hae Kyung;
Cunningham, Patrick N.;
Zhang, Wei;
Dolan, M. Eileen

Publication type:

Article

L-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 19, p. 4030, doi. 10.1093/hmg/ddt320

By:

Choe, Chi-un;
Nabuurs, Christine;
Stockebrand, Malte C.;
Neu, Axel;
Nunes, Patricia;
Morellini, Fabio;
Sauter, Kathrin;
Schillemeit, Stefan;
Hermans-Borgmeyer, Irm;
Marescau, Bart;
Heerschap, Arend;
Isbrandt, Dirk

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 19, p. NP, doi. 10.1093/hmg/ddt440
Publication type:: Article

Presenilin controls kinesin-1 and dynein function during APP-vesicle transport in vivo.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 19, p. 3828, doi. 10.1093/hmg/ddt237

By:

Gunawardena, Shermali;
Yang, Ge;
Goldstein, Lawrence S.B.

Publication type:

Article

Mitochondrial damage revealed by immunoselection for ALS-linked misfolded SOD1.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 19, p. 3947, doi. 10.1093/hmg/ddt249

By:

Pickles, Sarah;
Destroismaisons, Laurie;
Peyrard, Sarah L.;
Cadot, Sarah;
Rouleau, Guy A.;
Brown, Robert H.;
Julien, Jean-Pierre;
Arbour, Nathalie;
Vande Velde, Christine

Publication type:

Article

Drosophila TDP-43 dysfunction in glia and muscle cells cause cytological and behavioural phenotypes that characterize ALS and FTLD.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 19, p. 3883, doi. 10.1093/hmg/ddt243

By:

Diaper, Danielle C.;
Adachi, Yoshitsugu;
Lazarou, Luke;
Greenstein, Max;
Simoes, Fabio A.;
Di Domenico, Angelique;
Solomon, Daniel A.;
Lowe, Simon;
Alsubaie, Rawan;
Cheng, Daryl;
Buckley, Stephen;
Humphrey, Dickon M.;
Shaw, Christopher E.;
Hirth, Frank

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 19, p. NP, doi. 10.1093/hmg/ddt442
Publication type:: Article

Bardet–Biedl syndrome proteins control the cilia length through regulation of actin polymerization.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 19, p. 3858, doi. 10.1093/hmg/ddt241

By:

Hernandez-Hernandez, Victor;
Pravincumar, Priyanka;
Diaz-Font, Anna;
May-Simera, Helen;
Jenkins, Dagan;
Knight, Martin;
Beales, Philip L.

Publication type:

Article

Cardiac α-actin over-expression therapy in dominant ACTA1 disease.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 19, p. 3987, doi. 10.1093/hmg/ddt252

By:

Ravenscroft, Gianina;
McNamara, Elyshia;
Griffiths, Lisa M.;
Papadimitriou, John M.;
Hardeman, Edna C.;
Bakker, Anthony J.;
Davies, Kay E.;
Laing, Nigel G.;
Nowak, Kristen J.

Publication type:

Article

Bioenergetic flux, mitochondrial mass and mitochondrial morphology dynamics in AD and MCI cybrid cell lines.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 19, p. 3931, doi. 10.1093/hmg/ddt247

By:

Silva, Diana F.;
Selfridge, J. Eva;
Lu, Jianghua;
E, Lezi;
Roy, Nairita;
Hutfles, Lewis;
Burns, Jeffrey M.;
Michaelis, Elias K.;
Yan, ShiDu;
Cardoso, Sandra M.;
Swerdlow, Russell H.

Publication type:

Article

Deletion of tumor necrosis factor-α ameliorates neurodegeneration in Sandhoff disease mice.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 19, p. 3960, doi. 10.1093/hmg/ddt250

By:

Abo-ouf, Hatem;
Hooper, Alexander W.M.;
White, Elizabeth J.;
van Rensburg, Helena J. Janse;
Trigatti, Bernardo L.;
Igdoura, Suleiman A.

Publication type:

Article

A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 19, p. 4021, doi. 10.1093/hmg/ddt248

By:

Martin, Jose-Ezequiel;
Assassi, Shervin;
Diaz-Gallo, Lina-Marcela;
Broen, Jasper C.;
Simeon, Carmen P.;
Castellvi, Ivan;
Vicente-Rabaneda, Esther;
Fonollosa, Vicente;
Ortego-Centeno, Norberto;
González-Gay, Miguel A.;
Espinosa, Gerard;
Carreira, Patricia;
Camps, Mayte;
Sabio, Jose M.;
D'alfonso, Sandra;
Vonk, Madelon C.;
Voskuyl, Alexandre E.;
Schuerwegh, Annemie J.;
Kreuter, Alexander;
Witte, Torsten

Publication type:

Article

RD3 gene delivery restores guanylate cyclase localization and rescues photoreceptors in the Rd3 mouse model of Leber congenital amaurosis 12.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 19, p. 3894, doi. 10.1093/hmg/ddt244

By:

Molday, Laurie L.;
Djajadi, Hidayat;
Yan, Paul;
Szczygiel, Lukasz;
Boye, Sanford L.;
Chiodo, Vince A.;
Gregory-Evans, Kevin;
Sarunic, Marinko V.;
Hauswirth, William W.;
Molday, Robert S.

Publication type:

Article

Functional analysis of PEX13 mutation in a Zellweger syndrome spectrum patient reveals novel homooligomerization of PEX13 and its role in human peroxisome biogenesis.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 19, p. 3844, doi. 10.1093/hmg/ddt238

By:

Krause, Cindy;
Rosewich, Hendrik;
Woehler, Andrew;
Gärtner, Jutta

Publication type:

Article

Secondary coenzyme Q10 deficiency and oxidative stress in cultured fibroblasts from patients with riboflavin responsive multiple Acyl-CoA dehydrogenation deficiency.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 19, p. 3819, doi. 10.1093/hmg/ddt232

By:

Cornelius, Nanna;
Byron, Colleen;
Hargreaves, Iain;
Guerra, Paula Fernandez;
Furdek, Andrea K.;
Land, John;
Radford, Weston W.;
Frerman, Frank;
Corydon, Thomas J.;
Gregersen, Niels;
Olsen, Rikke K.J.

Publication type:

Article

Transient systemic mtDNA damage leads to muscle wasting by reducing the satellite cell pool.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 19, p. 3976, doi. 10.1093/hmg/ddt251

By:

Wang, Xiao;
Pickrell, Alicia M.;
Rossi, Susana G.;
Pinto, Milena;
Dillon, Lloye M.;
Hida, Aline;
Rotundo, Richard L.;
Moraes, Carlos T.

Publication type:

Article

A role of mitochondrial complex II defects in genetic models of Huntington's disease expressing N-terminal fragments of mutant huntingtin.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 19, p. 3869, doi. 10.1093/hmg/ddt242

By:

Damiano, Maria;
Diguet, Elsa;
Malgorn, Carole;
D'Aurelio, Marilena;
Galvan, Laurie;
Petit, Fanny;
Benhaim, Lucile;
Guillermier, Martine;
Houitte, Diane;
Dufour, Noelle;
Hantraye, Philippe;
Canals, Josep M.;
Alberch, Jordi;
Delzescaux, Thierry;
Déglon, Nicole;
Beal, M. Flint;
Brouillet, Emmanuel

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 19, p. NP, doi. 10.1093/hmg/ddt441
Publication type:: Article

Subscription Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 19, p. NP, doi. 10.1093/hmg/ddt443
Publication type:: Article

Genome-wide association study identifies loci affecting blood copper, selenium and zinc.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 19, p. 3998, doi. 10.1093/hmg/ddt239

By:

Evans, David M.;
Zhu, Gu;
Dy, Veronica;
Heath, Andrew C.;
Madden, Pamela A. F.;
Kemp, John P.;
McMahon, George;
St Pourcain, Beate;
Timpson, Nicholas J.;
Golding, Jean;
Lawlor, Debbie A.;
Steer, Colin;
Montgomery, Grant W.;
Martin, Nicholas G.;
Smith, George Davey;
Whitfield, John B.

Publication type:

Article

Delayed myelination in a mouse model of fragile X syndrome.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 19, p. 3920, doi. 10.1093/hmg/ddt246

By:

Pacey, Laura K.K.;
Xuan, Ingrid C.Y.;
Guan, Sihui;
Sussman, Dafna;
Henkelman, R. Mark;
Chen, Yan;
Thomsen, Christian;
Hampson, David R.

Publication type:

Article

Loss of cone cyclic nucleotide-gated channel leads to alterations in light response modulating system and cellular stress response pathways: a gene expression profiling study.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 19, p. 3906, doi. 10.1093/hmg/ddt245

By:

Ma, Hongwei;
Thapa, Arjun;
Morris, Lynsie M.;
Michalakis, Stylianos;
Biel, Martin;
Frank, Mark Barton;
Bebak, Melissa;
Ding, Xi-Qin

Publication type:

Article