Works matching IS 09646906 AND DT 2011 AND VI 20 AND IP 6

Results: 22

A genome-wide association study identifies novel loci associated with circulating IGF-I and IGFBP-3.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 6, p. 1241, doi. 10.1093/hmg/ddq560

By:

Kaplan, Robert C.;
Petersen, Ann-Kristin;
Chen, Ming-Huei;
Teumer, Alexander;
Glazer, Nicole L.;
Döring, Angela;
Lam, Carolyn S.P.;
Friedrich, Nele;
Newman, Anne;
Müller, Martina;
Yang, Qiong;
Homuth, Georg;
Cappola, Anne;
Klopp, Norman;
Smith, Holly;
Ernst, Florian;
Psaty, Bruce M.;
Wichmann, H.-Erich;
Sawyer, Douglas B.;
Biffar, Reiner

Publication type:

Article

KASH protein Syne-2/Nesprin-2 and SUN proteins SUN1/2 mediate nuclear migration during mammalian retinal development.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 6, p. 1061, doi. 10.1093/hmg/ddq549

By:

Yu, Juehua;
Lei, Kai;
Zhou, Min;
Craft, Cheryl M.;
Xu, Gezhi;
Xu, Tian;
Zhuang, Yuan;
Xu, Rener;
Han, Min

Publication type:

Article

Over-expression of BCL2 rescues muscle weakness in a mouse model of oculopharyngeal muscular dystrophy.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 6, p. 1154, doi. 10.1093/hmg/ddq559

By:

Davies, Janet E.;
Rubinsztein, David C.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 6, p. NP, doi. 10.1093/hmg/ddr053
Publication type:: Article

Distinct DNA methylation changes highly correlated with chronological age in the human brain.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 6, p. 1164, doi. 10.1093/hmg/ddq561

By:

Hernandez, Dena G.;
Nalls, Michael A.;
Gibbs, J. Raphael;
Arepalli, Sampath;
van der Brug, Marcel;
Chong, Sean;
Moore, Matthew;
Longo, Dan L.;
Cookson, Mark R.;
Traynor, Bryan J.;
Singleton, Andrew B.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 6, p. NP, doi. 10.1093/hmg/ddr051
Publication type:: Article

Sequence-specific stalling of DNA polymerase γ and the effects of mutations causing progressive ophthalmoplegia†.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 6, p. 1212, doi. 10.1093/hmg/ddq565

By:

Atanassova, Neli;
Fusté, Javier Miralles;
Wanrooij, Sjoerd;
Macao, Bertil;
Goffart, Steffi;
Bäckström, Stefan;
Farge, Geraldine;
Khvorostov, Ivan;
Larsson, Nils-Göran;
Spelbrink, Johannes N.;
Falkenberg, Maria

Publication type:

Article

Parkin degrades estrogen-related receptors to limit the expression of monoamine oxidases.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 6, p. 1074, doi. 10.1093/hmg/ddq550

By:

Ren, Yong;
Jiang, Houbo;
Ma, Dingyuan;
Nakaso, Kazuhiro;
Feng, Jian

Publication type:

Article

The Na/K-ATPase is obligatory for membrane anchorage of retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 6, p. 1132, doi. 10.1093/hmg/ddq557

By:

Friedrich, Ulrike;
Stöhr, Heidi;
Hilfinger, Daniela;
Loenhardt, Thomas;
Schachner, Melitta;
Langmann, Thomas;
Weber, Bernhard H.F.

Publication type:

Article

Reduced AKT/mTOR signaling and protein synthesis dysregulation in a Rett syndrome animal model.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 6, p. 1182, doi. 10.1093/hmg/ddq563

By:

Ricciardi, Sara;
Boggio, Elena M.;
Grosso, Stefano;
Lonetti, Giuseppina;
Forlani, Greta;
Stefanelli, Gilda;
Calcagno, Eleonora;
Morello, Noemi;
Landsberger, Nicoletta;
Biffo, Stefano;
Pizzorusso, Tommaso;
Giustetto, Maurizio;
Broccoli, Vania

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 6, p. NP, doi. 10.1093/hmg/ddr057
Publication type:: Article

SOX9 controls epithelial branching by activating RET effector genes during kidney development.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 6, p. 1143, doi. 10.1093/hmg/ddq558

By:

Reginensi, Antoine;
Clarkson, Michael;
Neirijnck, Yasmine;
Lu, Benson;
Ohyama, Takahiro;
Groves, Andrew K.;
Sock, Elisabeth;
Wegner, Michael;
Costantini, Frank;
Chaboissier, Marie-Christine;
Schedl, Andreas

Publication type:

Article

NOTCH, a new signaling pathway implicated in holoprosencephaly.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 6, p. 1122, doi. 10.1093/hmg/ddq556

By:

Dupé, Valérie;
Rochard, Lucie;
Mercier, Sandra;
Le Pétillon, Yann;
Gicquel, Isabelle;
Bendavid, Claude;
Bourrouillou, Georges;
Kini, Usha;
Thauvin-Robinet, Christel;
Bohan, Timothy P.;
Odent, Sylvie;
Dubourg, Christèle;
David, Véronique

Publication type:

Article

Genome-wide association study for C-reactive protein levels identified pleiotropic associations in the IL6 locus.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 6, p. 1224, doi. 10.1093/hmg/ddq551

By:

Okada, Yukinori;
Takahashi, Atsushi;
Ohmiya, Hiroko;
Kumasaka, Natsuhiko;
Kamatani, Yoichiro;
Hosono, Naoya;
Tsunoda, Tatsuhiko;
Matsuda, Koichi;
Tanaka, Toshihiro;
Kubo, Michiaki;
Nakamura, Yusuke;
Yamamoto, Kazuhiko;
Kamatani, Naoyuki

Publication type:

Article

Context-dependent robustness to 5′ splice site polymorphisms in human populations.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 6, p. 1084, doi. 10.1093/hmg/ddq553

By:

Lu, Zhi-xiang;
Jiang, Peng;
Cai, James J.;
Xing, Yi

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 6, p. NP, doi. 10.1093/hmg/ddr055
Publication type:: Article

Disruption of adaptive energy metabolism and elevated ribosomal p-S6K1 levels contribute to INCL pathogenesis: partial rescue by resveratrol.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 6, p. 1111, doi. 10.1093/hmg/ddq555

By:

Wei, Hui;
Zhang, Zhongjian;
Saha, Arjun;
Peng, Shiyong;
Chandra, Goutam;
Quezado, Zenaide;
Mukherjee, Anil B.

Publication type:

Article

Loss of Cited2 causes congenital heart disease by perturbing left–right patterning of the body axis.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 6, p. 1097, doi. 10.1093/hmg/ddq554

By:

Lopes Floro, Kylie;
Artap, Stanley T.;
Preis, Jost I.;
Fatkin, Diane;
Chapman, Gavin;
Furtado, Milena B.;
Harvey, Richard P.;
Hamada, Hiroshi;
Sparrow, Duncan B.;
Dunwoodie, Sally L.

Publication type:

Article

Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 6, p. 1232, doi. 10.1093/hmg/ddq552

By:

Pichler, Irene;
Minelli, Cosetta;
Sanna, Serena;
Tanaka, Toshiko;
Schwienbacher, Christine;
Naitza, Silvia;
Porcu, Eleonora;
Pattaro, Cristian;
Busonero, Fabio;
Zanon, Alessandra;
Maschio, Andrea;
Melville, Scott A.;
Grazia Piras, Maria;
Longo, Dan L.;
Guralnik, Jack;
Hernandez, Dena;
Bandinelli, Stefania;
Aigner, Elmar;
Murphy, Anthony T.;
Wroblewski, Victor

Publication type:

Article

In vivo cell-autonomous transcriptional abnormalities revealed in mice expressing mutant huntingtin in striatal but not cortical neurons.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 6, p. 1049, doi. 10.1093/hmg/ddq548

By:

Thomas, Elizabeth A.;
Coppola, Giovanni;
Tang, Bin;
Kuhn, Alexandre;
Kim, SoongHo;
Geschwind, Daniel H.;
Brown, Timothy B.;
Luthi-Carter, Ruth;
Ehrlich, Michelle E.

Publication type:

Article

IL3 variant on chromosomal region 5q31–33 and protection from recurrent malaria attacks.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 6, p. 1173, doi. 10.1093/hmg/ddq562

By:

Meyer, Christian G.;
Calixto Fernandes, Maria H.;
Intemann, Christopher D.;
Kreuels, Benno;
Kobbe, Robin;
Kreuzberg, Christina;
Ayim, Matilda;
Ruether, Andreas;
Loag, Wibke;
Ehmen, Christa;
Adjei, Samuel;
Adjei, Ohene;
Horstmann, Rolf D.;
May, Jürgen

Publication type:

Article

Genetic mouse models for Parkinson's disease display severe pathology in glial cell mitochondria.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 6, p. 1197, doi. 10.1093/hmg/ddq564

By:

Schmidt, Saskia;
Linnartz, Bettina;
Mendritzki, Sonja;
Sczepan, Teresa;
Lübbert, Matthias;
Stichel, Christine C.;
Lübbert, Hermann

Publication type:

Article