Works matching IS 09646906 AND DT 2012 AND VI 21 AND IP 24

Results: 18

Editorial Board.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 24, p. NP, doi. 10.1093/hmg/dds460
Publication type:: Article

Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 24, p. 5294, doi. 10.1093/hmg/dds380

By:

Brunetti, Dario;
Dusi, Sabrina;
Morbin, Michela;
Uggetti, Andrea;
Moda, Fabio;
D'Amato, Ilaria;
Giordano, Carla;
d'Amati, Giulia;
Cozzi, Anna;
Levi, Sonia;
Hayflick, Susan;
Tiranti, Valeria

Publication type:

Article

Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 24, p. 5318, doi. 10.1093/hmg/dds388

By:

Tavian, Daniela;
Missaglia, Sara;
Redaelli, Chiara;
Pennisi, Elena M.;
Invernici, Gloria;
Wessalowski, Ruediger;
Maiwald, Robert;
Arca, Marcello;
Coleman, Rosalind A.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 24, p. NP, doi. 10.1093/hmg/dds457
Publication type:: Article

A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 24, p. 5373

By:

Siddiq, Afshan;
Couch, Fergus J.;
Chen, Gary K.;
Lindström, Sara;
Eccles, Diana;
Millikan, Robert C.;
Michailidou, Kyriaki;
Stram, Daniel O.;
Beckmann, Lars;
Rhie, Suhn Kyong;
Ambrosone, Christine B.;
Aittomäki, Kristiina;
Amiano, Pilar;
Apicella, Carmel;
Baglietto, Laura;
Bandera, Elisa V.;
Beckmann, Matthias W.;
Berg, Christine D.;
Bernstein, Leslie;
Blomqvist, Carl

Publication type:

Article

Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 24, p. 5329

By:

Chasman, Daniel I.;
Fuchsberger, Christian;
Pattaro, Cristian;
Teumer, Alexander;
Böger, Carsten A.;
Endlich, Karlhans;
Olden, Matthias;
Chen, Ming-Huei;
Tin, Adrienne;
Taliun, Daniel;
Li, Man;
Gao, Xiaoyi;
Gorski, Mathias;
Yang, Qiong;
Hundertmark, Claudia;
Foster, Meredith C.;
O'Seaghdha, Conall M.;
Glazer, Nicole;
Isaacs, Aaron;
Liu, Ching-Ti

Publication type:

Article

Chromosome-specific accumulation of aneuploidy in the aging mouse brain.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 24, p. 5246, doi. 10.1093/hmg/dds375

By:

Faggioli, Francesca;
Wang, Tao;
Vijg, Jan;
Montagna, Cristina

Publication type:

Article

Genetic variation in the 15q25 nicotinic acetylcholine receptor gene cluster (CHRNA5–CHRNA3–CHRNB4) interacts with maternal self-reported smoking status during pregnancy to influence birth weight.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 24, p. 5344, doi. 10.1093/hmg/dds372

By:

Tyrrell, Jessica;
Huikari, Ville;
Christie, Jennifer T.;
Cavadino, Alana;
Bakker, Rachel;
Brion, Marie-Jo A.;
Geller, Frank;
Paternoster, Lavinia;
Myhre, Ronny;
Potter, Catherine;
Johnson, Paul C.D.;
Ebrahim, Shah;
Feenstra, Bjarke;
Hartikainen, Anna-Liisa;
Hattersley, Andrew T.;
Hofman, Albert;
Kaakinen, Marika;
Lowe, Lynn P.;
Magnus, Per;
McConnachie, Alex

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 24, p. NP, doi. 10.1093/hmg/dds454
Publication type:: Article

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 24, p. 5359

By:

Steffens, Michael;
Leu, Costin;
Ruppert, Ann-Kathrin;
Zara, Federico;
Striano, Pasquale;
Robbiano, Angela;
Capovilla, Giuseppe;
Tinuper, Paolo;
Gambardella, Antonio;
Bianchi, Amedeo;
La Neve, Angela;
Crichiutti, Giovanni;
de Kovel, Carolien G.F.;
Kasteleijn-Nolst Trenité, Dorothée;
de Haan, Gerrit-Jan;
Lindhout, Dick;
Gaus, Verena;
Schmitz, Bettina;
Janz, Dieter;
Weber, Yvonne G.

Publication type:

Article

Kinetochore KMN network gene CASC5 mutated in primary microcephaly.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 24, p. 5306, doi. 10.1093/hmg/dds386

By:

Genin, Anne;
Desir, Julie;
Lambert, Nelle;
Biervliet, Martine;
Van Der Aa, Nathalie;
Pierquin, Genevieve;
Killian, Audrey;
Tosi, Mario;
Urbina, Montse;
Lefort, Anne;
Libert, Frederick;
Pirson, Isabelle;
Abramowicz, Marc

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 24, p. NP, doi. 10.1093/hmg/dds463
Publication type:: Article

Expression of SMARCB1 (INI1) mutations in familial schwannomatosis.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 24, p. 5239, doi. 10.1093/hmg/dds370

By:

Smith, Miriam J.;
Walker, James A.;
Shen, Yiping;
Stemmer-Rachamimov, Anat;
Gusella, James F.;
Plotkin, Scott R.

Publication type:

Article

Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 24, p. 5385, doi. 10.1093/hmg/dds382

By:

Mangino, Massimo;
Hwang, Shih-Jen;
Spector, Timothy D.;
Hunt, Steven C.;
Kimura, Masayuki;
Fitzpatrick, Annette L.;
Christiansen, Lene;
Petersen, Inge;
Elbers, Clara C.;
Harris, Tamara;
Chen, Wei;
Srinivasan, Sathanur R.;
Kark, Jeremy D.;
Benetos, Athanase;
El Shamieh, Said;
Visvikis-Siest, Sophie;
Christensen, Kaare;
Berenson, Gerald S.;
Valdes, Ana M.;
Viñuela, Ana

Publication type:

Article

NUB1 modulation of GSK3β reduces tau aggregation.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 24, p. 5254, doi. 10.1093/hmg/dds376

By:

Richet, Emma;
Pooler, Amy M.;
Rodriguez, Teresa;
Novoselov, Sergey S.;
Schmidtke, Gunter;
Groettrup, Marcus;
Hanger, Diane P.;
Cheetham, Michael E.;
van der Spuy, Jacqueline

Publication type:

Article

In conditions of limited chromophore supply rods entrap 11-cis-retinal leading to loss of cone function and cell death.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 24, p. 5395, doi. 10.1093/hmg/dds404

By:

Samardzija, Marijana;
Tanimoto, Naoyuki;
Kostic, Corinne;
Beck, Susanne;
Oberhauser, Vitus;
Joly, Sandrine;
Thiersch, Markus;
Fahl, Edda;
Drumea-Mirancea, Mihaela;
Arsenijevic, Yvan;
von Lintig, Johannes;
Wenzel, Andreas;
Seeliger, Mathias W.;
Grimm, Christian

Publication type:

Article

Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 24, p. 5268, doi. 10.1093/hmg/dds378

By:

Nahorski, Michael S.;
Seabra, Laurence;
Straatman-Iwanowska, Ania;
Wingenfeld, Aileen;
Reiman, Anne;
Lu, Xiaohong;
Klomp, Jeff A.;
Teh, Bin T.;
Hatzfeld, Mechthild;
Gissen, Paul;
Maher, Eamonn R.

Publication type:

Article

Selective histone deacetylase (HDAC) inhibition imparts beneficial effects in Huntington's disease mice: implications for the ubiquitin–proteasomal and autophagy systems.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 24, p. 5280, doi. 10.1093/hmg/dds379

By:

Jia, Haiqun;
Kast, Ryan J.;
Steffan, Joan S.;
Thomas, Elizabeth A.

Publication type:

Article