Works matching IS 09646906 AND DT 2009 AND VI 18 AND IP 5

Results: 21

Mutually exclusive binding of PP1 and RNA to AKAP149 affects the mitochondrial network.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 5, p. 978, doi. 10.1093/hmg/ddn425

By:

Rogne, Marie;
Stokka, Anne Jorunn;
Taskén, Kjetil;
Collas, Philippe;
Küntziger, Thomas

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 5, p. NP, doi. 10.1093/hmg/ddp064
Publication type:: Article

Mutant SOD1 impairs axonal transport of choline acetyltransferase and acetylcholine release by sequestering KAP3.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 5, p. 942, doi. 10.1093/hmg/ddn422

By:

Tateno, Minako;
Kato, Shinsuke;
Sakurai, Takashi;
Nukina, Nobuyuki;
Takahashi, Ryosuke;
Araki, Toshiyuki

Publication type:

Article

Disruption of the neurexin 1 gene is associated with schizophrenia.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 5, p. 988

By:

Rujescu, Dan;
Ingason, Andres;
Cichon, Sven;
Pietiläinen, Olli P.H.;
Barnes, Michael R.;
Toulopoulou, Timothea;
Picchioni, Marco;
Vassos, Evangelos;
Ettinger, Ulrich;
Bramon, Elvira;
Murray, Robin;
Ruggeri, Mirella;
Tosato, Sarah;
Bonetto, Chiara;
Steinberg, Stacy;
Sigurdsson, Engilbert;
Sigmundsson, Thordur;
Petursson, Hannes;
Gylfason, Arnaldur;
Olason, Pall I.

Publication type:

Article

Phosphorylation does not prompt, nor prevent, the formation of α-synuclein toxic species in a rat model of Parkinson's disease.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 5, p. 872

By:

Azeredo da Silveira, Samareh;
Schneider, Bernard L.;
Cifuentes-Diaz, Carmen;
Sage, Daniel;
Abbas-Terki, Toufik;
Iwatsubo, Takeshi;
Unser, Michaël;
Aebischer, Patrick

Publication type:

Article

Combined kinase inhibition modulates parkin inactivation.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 5, p. 809

By:

Rubio de la Torre, Elena;
Luzón-Toro, Berta;
Forte-Lago, Irene;
Minguez-Castellanos, Adolfo;
Ferrer, Isidro;
Hilfiker, Sabine

Publication type:

Article

Altered visual function and interneuron survival in Atrx knockout mice: inference for the human syndrome.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 5, p. 966, doi. 10.1093/hmg/ddn424

By:

Medina, Chantal F.;
Mazerolle, Chantal;
Wang, Yaping;
Bérubé, Nathalie G.;
Coupland, Stuart;
Gibbons, Richard J.;
Wallace, Valerie A.;
Picketts, David J.

Publication type:

Article

A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 5, p. 911, doi. 10.1093/hmg/ddn420

By:

Pagenstecher, Axel;
Stahl, Sonja;
Sure, Ulrich;
Felbor, Ute

Publication type:

Article

Tau deletion exacerbates the phenotype of Niemann–Pick type C mice and implicates autophagy in pathogenesis.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 5, p. 956, doi. 10.1093/hmg/ddn423

By:

Pacheco, Chris D.;
Elrick, Matthew J.;
Lieberman, Andrew P.

Publication type:

Article

ABCA4 disease progression and a proposed strategy for gene therapy.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 5, p. 931, doi. 10.1093/hmg/ddn421

By:

Cideciyan, Artur V.;
Swider, Malgorzata;
Aleman, Tomas S.;
Tsybovsky, Yaroslav;
Schwartz, Sharon B.;
Windsor, Elizabeth A.M.;
Roman, Alejandro J.;
Sumaroka, Alexander;
Steinberg, Janet D.;
Jacobson, Samuel G.;
Stone, Edwin M.;
Palczewski, Krzysztof

Publication type:

Article

Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 5, p. 861, doi. 10.1093/hmg/ddn411

By:

Mohapatra, Bhagyalaxmi;
Casey, Brett;
Li, Hua;
Ho-Dawson, Trang;
Smith, Liana;
Fernbach, Susan D.;
Molinari, Laura;
Niesh, Stephen R.;
Jefferies, John Lynn;
Craigen, William J.;
Towbin, Jeffrey A.;
Belmont, John W.;
Ware, Stephanie M.

Publication type:

Article

Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 5, p. 919, doi. 10.1093/hmg/ddn430

By:

Akers, Amy L.;
Johnson, Eric;
Steinberg, Gary K.;
Zabramski, Joseph M.;
Marchuk, Douglas A.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 5, p. NP, doi. 10.1093/hmg/ddp066
Publication type:: Article

Contents Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 5, p. NP, doi. 10.1093/hmg/ddp063
Publication type:: Article

Systematic identification of cis-silenced genes by trans complementation.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 5, p. 835, doi. 10.1093/hmg/ddn409

By:

Lee, Jae Hyun;
Bugarija, Branimir;
Millan, Enrique J.;
Walton, Noah M.;
Gaetz, Jedidiah;
Fernandes, Croydon J.;
Yu, Wei-Hua;
Mekel-Bobrov, Nitzan;
Vallender, Tammy W.;
Snyder, Gregory E.;
Xiang, Andy Peng;
Lahn, Bruce T.

Publication type:

Article

Differential requirements for retinal degeneration slow intermolecular disulfide-linked oligomerization in rods versus cones.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 5, p. 797, doi. 10.1093/hmg/ddn406

By:

Chakraborty, Dibyendu;
Ding, Xi-Qin;
Conley, Shannon M.;
Fliesler, Steven J.;
Naash, Muna I.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 5, p. NP, doi. 10.1093/hmg/ddp065
Publication type:: Article

Dominant-negative inhibition of Ca2+ influx via TRPV2 ameliorates muscular dystrophy in animal models.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 5, p. 824, doi. 10.1093/hmg/ddn408

By:

Iwata, Yuko;
Katanosaka, Yuki;
Arai, Yuji;
Shigekawa, Munekazu;
Wakabayashi, Shigeo

Publication type:

Article

A G220V substitution within the N-terminal transcription regulating domain of HOXD13 causes a variant synpolydactyly phenotype.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 5, p. 847

By:

Fantini, Sebastian;
Vaccari, Giulia;
Brison, Nathalie;
Debeer, Philippe;
Tylzanowski, Przemko;
Zappavigna, Vincenzo

Publication type:

Article

17-DMAG ameliorates polyglutamine-mediated motor neuron degeneration through well-preserved proteasome function in an SBMA model mouse.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 5, p. 898, doi. 10.1093/hmg/ddn419

By:

Tokui, Keisuke;
Adachi, Hiroaki;
Waza, Masahiro;
Katsuno, Masahisa;
Minamiyama, Makoto;
Doi, Hideki;
Tanaka, Keiji;
Hamazaki, Jun;
Murata, Shigeo;
Tanaka, Fumiaki;
Sobue, Gen

Publication type:

Article

NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 5, p. 888, doi. 10.1093/hmg/ddn418

By:

Deveault, Catherine;
Qian, Jian Hua;
Chebaro, Wafaa;
Ao, Asangla;
Gilbert, Lucy;
Mehio, Amira;
Khan, Rabia;
Tan, Seang Lin;
Wischmeijer, Anita;
Coullin, Philippe;
Xie, Xing;
Slim, Rima

Publication type:

Article