Works matching IS 09646906 AND DT 2011 AND VI 20 AND IP 1

Results: 22

Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 1, p. 202, doi. 10.1093/hmg/ddq454

By:

Lesage, Suzanne;
Anheim, Mathieu;
Condroyer, Christel;
Pollak, Pierre;
Durif, Franck;
Dupuits, Céline;
Viallet, François;
Lohmann, Ebba;
Corvol, Jean-Christophe;
Honoré, Aurélie;
Rivaud, Sophie;
Vidailhet, Marie;
Dürr, Alexandra;
Brice, Alexis

Publication type:

Article

Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 1, p. 64, doi. 10.1093/hmg/ddq432

By:

Cunningham, Christopher L.;
Martínez Cerdeño, Verónica;
Navarro Porras, Eliecer;
Prakash, Anish N.;
Angelastro, James M.;
Willemsen, Rob;
Hagerman, Paul J.;
Pessah, Isaac N.;
Berman, Robert F.;
Noctor, Stephen C.

Publication type:

Article

The β1 subunit of the Na,K-ATPase pump interacts with megalencephalic leucoencephalopathy with subcortical cysts protein 1 (MLC1) in brain astrocytes: new insights into MLC pathogenesis.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 1, p. 90, doi. 10.1093/hmg/ddq435

By:

Brignone, Maria S.;
Lanciotti, Angela;
Macioce, Pompeo;
Macchia, Gianfranco;
Gaetani, Matteo;
Aloisi, Francesca;
Petrucci, Tamara C.;
Ambrosini, Elena

Publication type:

Article

Rapid and transient recruitment of DNMT1 to DNA double-strand breaks is mediated by its interaction with multiple components of the DNA damage response machinery.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 1, p. 126, doi. 10.1093/hmg/ddq451

By:

Ha, Kyungsoo;
Lee, Gun Eui;
Palii, Stela S.;
Brown, Kevin D.;
Takeda, Yoshihiko;
Liu, Kebin;
Bhalla, Kapil N.;
Robertson, Keith D.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 1, p. NP, doi. 10.1093/hmg/ddq505
Publication type:: Article

DJ-1 acts in parallel to the PINK1/parkin pathway to control mitochondrial function and autophagy.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 1, p. 40, doi. 10.1093/hmg/ddq430

By:

Thomas, Kelly Jean;
McCoy, Melissa K.;
Blackinton, Jeff;
Beilina, Alexandra;
van der Brug, Marcel;
Sandebring, Anna;
Miller, David;
Maric, Dragan;
Cedazo-Minguez, Angel;
Cookson, Mark R.

Publication type:

Article

Common genetic variants are significant risk factors for early menopause: results from the Breakthrough Generations Study.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 1, p. 186, doi. 10.1093/hmg/ddq417

By:

Murray, Anna;
Bennett, Claire E.;
Perry, John R.B.;
Weedon, Michael N.;
Consortium, ReproGen;
Jacobs, Patricia A.;
Morris, Danielle H.;
Orr, Nicholas;
Schoemaker, Minouk J.;
Jones, Michael;
Ashworth, Alan;
Swerdlow, Anthony J.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 1, p. NP, doi. 10.1093/hmg/ddq503
Publication type:: Article

The KRAB-containing zinc-finger transcriptional regulator ZBRK1 activates SCA2 gene transcription through direct interaction with its gene product, ataxin-2.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 1, p. 104, doi. 10.1093/hmg/ddq436

By:

Hallen, Linda;
Klein, Holger;
Stoschek, Carola;
Wehrmeyer, Silke;
Nonhoff, Ute;
Ralser, Markus;
Wilde, Jeannine;
Röhr, Christina;
Schweiger, Michal R.;
Zatloukal, Kurt;
Vingron, Martin;
Lehrach, Hans;
Konthur, Zoltán;
Krobitsch, Sylvia

Publication type:

Article

Huntington's and myotonic dystrophy hESCs: down-regulated trinucleotide repeat instability and mismatch repair machinery expression upon differentiation.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 1, p. 176, doi. 10.1093/hmg/ddq456

By:

Seriola, Anna;
Spits, Claudia;
Simard, Jodie P.;
Hilven, Pierre;
Haentjens, Patrick;
Pearson, Christopher E.;
Sermon, Karen

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 1, p. NP, doi. 10.1093/hmg/ddq502
Publication type:: Article

Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 1, p. 1, doi. 10.1093/hmg/ddq427

By:

López Castel, Arturo;
Nakamori, Masayuki;
Tomé, Stephanie;
Chitayat, David;
Gourdon, Geneviève;
Thornton, Charles A.;
Pearson, Christopher E.

Publication type:

Article

The connexin26 S17F mouse mutant represents a model for the human hereditary keratitis–ichthyosis–deafness syndrome.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 1, p. 28, doi. 10.1093/hmg/ddq429

By:

Schütz, Melanie;
Auth, Tanja;
Gehrt, Anna;
Bosen, Felicitas;
Körber, Inken;
Strenzke, Nicola;
Moser, Tobias;
Willecke, Klaus

Publication type:

Article

Identification of genes specific to mouse primordial germ cells through dynamic global gene expression.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 1, p. 115, doi. 10.1093/hmg/ddq450

By:

Sabour, Davood;
Araúzo-Bravo, Marcos J.;
Hübner, Karin;
Ko, Kinarm;
Greber, Boris;
Gentile, Luca;
Stehling, Martin;
Schöler, Hans R.

Publication type:

Article

Drosophila FMRP regulates microtubule network formation and axonal transport of mitochondria.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 1, p. 51, doi. 10.1093/hmg/ddq431

By:

Yao, Aiyu;
Jin, Shan;
Li, Xinhai;
Liu, Zhihua;
Ma, Xuehua;
Tang, Jing;
Zhang, Yong Q.

Publication type:

Article

The Machado–Joseph disease-associated mutant form of ataxin-3 regulates parkin ubiquitination and stability.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 1, p. 141, doi. 10.1093/hmg/ddq452

By:

Durcan, Thomas M.;
Kontogiannea, Maria;
Thorarinsdottir, Thorhildur;
Fallon, Lara;
Williams, Aislinn J.;
Djarmati, Ana;
Fantaneanu, Tadeu;
Paulson, Henry L.;
Fon, Edward A.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 1, p. NP, doi. 10.1093/hmg/ddq504
Publication type:: Article

Naturally occurring germline and tumor-associated mutations within the ATP-binding motifs of PTEN lead to oxidative damage of DNA associated with decreased nuclear p53.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 1, p. 80, doi. 10.1093/hmg/ddq434

By:

He, Xin;
Ni, Ying;
Wang, Yu;
Romigh, Todd;
Eng, Charis

Publication type:

Article

Onset and organ specificity of Tk2 deficiency depends on Tk1 down-regulation and transcriptional compensation.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 1, p. 155, doi. 10.1093/hmg/ddq453

By:

Dorado, Beatriz;
Area, Estela;
Akman, Hasan O.;
Hirano, Michio

Publication type:

Article

Molecular chaperone-mediated rescue of mitophagy by a Parkin RING1 domain mutant.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 1, p. 16, doi. 10.1093/hmg/ddq428

By:

Rose, Johanna M.;
Novoselov, Sergey S.;
Robinson, Philip A.;
Cheetham, Michael E.

Publication type:

Article

Common CD36 SNPs reduce protein expression and may contribute to a protective atherogenic profile.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 1, p. 193, doi. 10.1093/hmg/ddq449

By:

Love-Gregory, Latisha;
Sherva, Richard;
Schappe, Timothy;
Qi, Jian-Shen;
McCrea, Jennifer;
Klein, Samuel;
Connelly, Margery A.;
Abumrad, Nada A.

Publication type:

Article

Protein kinase A regulates caspase-1 via Ets-1 in bone stromal cell-derived lesions: a link between cyclic AMP and pro-inflammatory pathways in osteoblast progenitors.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 1, p. 165, doi. 10.1093/hmg/ddq455

By:

Almeida, Madson Q.;
Tsang, Kit Man;
Cheadle, Chris;
Watkins, Tonya;
Grivel, Jean-Charles;
Nesterova, Maria;
Goldbach-Mansky, Raphaela;
Stratakis, Constantine A.

Publication type:

Article