Works matching IS 09646906 AND DT 2010 AND VI 19 AND IP 1

Results: 22

Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 1, p. 170, doi. 10.1093/hmg/ddp477

By:

Yang, Hua;
Brosel, Sonja;
Acin-Perez, Rebeca;
Slavkovich, Vesna;
Nishino, Ichizo;
Khan, Raffay;
Goldberg, Ira J.;
Graziano, Joseph;
Manfredi, Giovanni;
Schon, Eric A.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 1, p. NP, doi. 10.1093/hmg/ddp516
Publication type:: Article

Genetic control of the alternative pathway of complement in humans and age-related macular degeneration.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 1, p. 209, doi. 10.1093/hmg/ddp472

By:

Hecker, Laura A.;
Edwards, Albert O.;
Ryu, Euijung;
Tosakulwong, Nirubol;
Baratz, Keith H.;
Brown, William L.;
Issa, Peter Charbel;
Scholl, Hendrik P.;
Pollok-Kopp, Beatrix;
Schmid-Kubista, Katharina E.;
Bailey, Kent R.;
Oppermann, Martin

Publication type:

Article

Dual effects of superovulation: loss of maternal and paternal imprinted methylation in a dose-dependent manner.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 1, p. 36, doi. 10.1093/hmg/ddp465

By:

Market-Velker, Brenna A.;
Zhang, Liyue;
Magri, Lauren S.;
Bonvissuto, Anne C.;
Mann, Mellissa R.W.

Publication type:

Article

A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 1, p. 52

By:

Piróg, Katarzyna A.;
Jaka, Oihane;
Katakura, Yoshihisa;
Meadows, Roger S.;
Kadler, Karl E.;
Boot-Handford, Raymond P.;
Briggs, Michael D.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 1, p. NP, doi. 10.1093/hmg/ddp513
Publication type:: Article

A murine model of Denys–Drash syndrome reveals novel transcriptional targets of WT1 in podocytes.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 1, p. 1, doi. 10.1093/hmg/ddp462

By:

Ratelade, Julien;
Arrondel, Christelle;
Hamard, Ghislaine;
Garbay, Serge;
Harvey, Scott;
Biebuyck, Nathalie;
Schulz, Herbert;
Hastie, Nick;
Pontoglio, Marco;
Gubler, Marie-Claire;
Antignac, Corinne;
Heidet, Laurence

Publication type:

Article

SUMOylation attenuates the aggregation propensity and cellular toxicity of the polyglutamine expanded ataxin-7.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 1, p. 181, doi. 10.1093/hmg/ddp478

By:

Janer, Alexandre;
Werner, Andreas;
Takahashi-Fujigasaki, Junko;
Daret, Aurélie;
Fujigasaki, Hiroto;
Takada, Koji;
Duyckaerts, Charles;
Brice, Alexis;
Dejean, Anne;
Sittler, Annie

Publication type:

Article

Mutations in NOTCH3 cause the formation and retention of aggregates in the endoplasmic reticulum, leading to impaired cell proliferation.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 1, p. 79, doi. 10.1093/hmg/ddp468

By:

Takahashi, Keikichi;
Adachi, Kayo;
Yoshizaki, Kaichi;
Kunimoto, Shohko;
Kalaria, Raj N.;
Watanabe, Atsushi

Publication type:

Article

Impaired replication dynamics at the FRA3B common fragile site.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 1, p. 99, doi. 10.1093/hmg/ddp470

By:

Palakodeti, Aparna;
Lucas, Isabelle;
Jiang, Yanwen;
Young, David J.;
Fernald, Anthony A.;
Karrison, Theodore;
Le Beau, Michelle M.

Publication type:

Article

Efficient intracerebral delivery of AAV5 vector encoding human ARSA in non-human primate.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 1, p. 147, doi. 10.1093/hmg/ddp475

By:

Colle, Marie-Anne;
Piguet, Françoise;
Bertrand, Lise;
Raoul, Sylvie;
Bieche, Ivan;
Dubreil, Laurence;
Sloothaak, Didi;
Bouquet, Céline;
Moullier, Philippe;
Aubourg, Patrick;
Cherel, Yan;
Cartier, Nathalie;
Sevin, Caroline

Publication type:

Article

Alteration of the unfolded protein response modifies neurodegeneration in a mouse model of Marinesco–Sjögren syndrome.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 1, p. 25, doi. 10.1093/hmg/ddp464

By:

Zhao, Lihong;
Rosales, Christine;
Seburn, Kevin;
Ron, David;
Ackerman, Susan L.

Publication type:

Article

The effect of food intake on gene expression in human peripheral blood.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 1, p. 159, doi. 10.1093/hmg/ddp476

By:

Leonardson, Amy S.;
Zhu, Jun;
Chen, Yanqing;
Wang, Kai;
Lamb, John R.;
Reitman, Marc;
Emilsson, Valur;
Schadt, Eric E.

Publication type:

Article

The asthma-associated ORMDL3 gene product regulates endoplasmic reticulum-mediated calcium signaling and cellular stress.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 1, p. 111, doi. 10.1093/hmg/ddp471

By:

Cantero-Recasens, Gerard;
Fandos, César;
Rubio-Moscardo, Fanny;
Valverde, Miguel A.;
Vicente, Rubén

Publication type:

Article

Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 1, p. 122, doi. 10.1093/hmg/ddp473

By:

Heap, Graham A.;
Yang, Jennie H.M.;
Downes, Kate;
Healy, Barry C.;
Hunt, Karen A.;
Bockett, Nicholas;
Franke, Lude;
Dubois, Patrick C.;
Mein, Charles A.;
Dobson, Richard J.;
Albert, Thomas J.;
Rodesch, Matthew J.;
Clayton, David G.;
Todd, John A.;
van Heel, David A.;
Plagnol, Vincent

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 1, p. NP, doi. 10.1093/hmg/ddp514
Publication type:: Article

Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 1, p. 196, doi. 10.1093/hmg/ddp479

By:

Chen, Yucui;
Tassone, Flora;
Berman, Robert F.;
Hagerman, Paul J.;
Hagerman, Randi J.;
Willemsen, Rob;
Pessah, Isaac N.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 1, p. NP, doi. 10.1093/hmg/ddp515
Publication type:: Article

Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 1, p. 90, doi. 10.1093/hmg/ddp469

By:

Ghosh, Amiya K.;
Murga-Zamalloa, Carlos A.;
Chan, Lansze;
Hitchcock, Peter F.;
Swaroop, Anand;
Khanna, Hemant

Publication type:

Article

Identical oligomeric and fibrillar structures captured from the brains of R6/2 and knock-in mouse models of Huntington's disease.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 1, p. 65, doi. 10.1093/hmg/ddp467

By:

Sathasivam, Kirupa;
Lane, Amin;
Legleiter, Justin;
Warley, Alice;
Woodman, Ben;
Finkbeiner, Steve;
Paganetti, Paolo;
Muchowski, Paul J.;
Wilson, Stuart;
Bates, Gillian P.

Publication type:

Article

MDA5 and PTPN2, two candidate genes for type 1 diabetes, modify pancreatic β-cell responses to the viral by-product double-stranded RNA.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 1, p. 135, doi. 10.1093/hmg/ddp474

By:

Colli, Maikel L.;
Moore, Fabrice;
Gurzov, Esteban N.;
Ortis, Fernanda;
Eizirik, Decio L.

Publication type:

Article

PRKCSH/80K-H, the protein mutated in polycystic liver disease, protects polycystin-2/TRPP2 against HERP-mediated degradation.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 1, p. 16, doi. 10.1093/hmg/ddp463

By:

Gao, Hongyu;
Wang, Yan;
Wegierski, Tomasz;
Skouloudaki, Kassiani;
Pütz, Michael;
Fu, Xiao;
Engel, Christina;
Boehlke, Christopher;
Peng, Hongquan;
Kuehn, E. Wolfgang;
Kim, Emily;
Kramer-Zucker, Albrecht;
Walz, Gerd

Publication type:

Article