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

Results: 18

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
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
Editorial Board.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 24, p. NP, doi. 10.1093/hmg/dds460
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
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
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
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
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
Cover Page.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 24, p. NP, doi. 10.1093/hmg/dds457
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
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