Works matching IS 09646906 AND DT 2009 AND VI 18 AND IP 21

Results: 25

Genetic variation in NOS1AP is associated with sudden cardiac death: evidence from the Rotterdam Study.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 21, p. 4213, doi. 10.1093/hmg/ddp356

By:

Eijgelsheim, Mark;
Newton-Cheh, Christopher;
Aarnoudse, Adrianus L.H.J.;
van Noord, Charlotte;
Witteman, Jacqueline C.M.;
Hofman, Albert;
Uitterlinden, André G.;
Stricker, Bruno H.C.

Publication type:

Article

Depletion of zebrafish Tcap leads to muscular dystrophy via disrupting sarcomere–membrane interaction, not sarcomere assembly.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 21, p. 4130, doi. 10.1093/hmg/ddp362

By:

Zhang, Ruilin;
Yang, Jingchun;
Zhu, Jin;
Xu, Xiaolei

Publication type:

Article

The DNA methylome of pediatric acute lymphoblastic leukemia.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 21, p. 4054, doi. 10.1093/hmg/ddp354

By:

Davidsson, Josef;
Lilljebjörn, Henrik;
Andersson, Anna;
Veerla, Srinivas;
Heldrup, Jesper;
Behrendtz, Mikael;
Fioretos, Thoas;
Johansson, Bertil

Publication type:

Article

Tbx22null mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 21, p. 4171, doi. 10.1093/hmg/ddp368

By:

Pauws, Erwin;
Hoshino, Aya;
Bentley, Lucy;
Prajapati, Suresh;
Keller, Charles;
Hammond, Peter;
Martinez-Barbera, Juan-Pedro;
Moore, Gudrun E.;
Stanier, Philip

Publication type:

Article

Genetic and physical interaction between the NPHP5 and NPHP6 gene products.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 21, p. 4226, doi. 10.1093/hmg/ddp387

By:

Schäfer, Tobias;
Pütz, Michael;
Lienkamp, Soeren;
Ganner, Athina;
Bergbreiter, Astrid;
Ramachandran, Haribaskar;
Gieloff, Verena;
Gerner, Martin;
Mattonet, Christian;
Czarnecki, Peter G.;
Sayer, John A.;
Otto, Edgar A.;
Hildebrandt, Friedhelm;
Kramer-Zucker, Albrecht;
Walz, Gerd

Publication type:

Article

The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 21, p. 4081, doi. 10.1093/hmg/ddp357

By:

Beer, Nicola L.;
Tribble, Nicholas D.;
McCulloch, Laura J.;
Roos, Charlotta;
Johnson, Paul R.V.;
Orho-Melander, Marju;
Gloyn, Anna L.

Publication type:

Article

Aprataxin, poly-ADP ribose polymerase 1 (PARP-1) and apurinic endonuclease 1 (APE1) function together to protect the genome against oxidative damage.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 21, p. 4102, doi. 10.1093/hmg/ddp359

By:

Harris, Janelle L.;
Jakob, Burkhard;
Taucher-Scholz, Gisela;
Dianov, Grigory L.;
Becherel, Olivier J.;
Lavin, Martin F.

Publication type:

Article

LRRK2 regulates autophagic activity and localizes to specific membrane microdomains in a novel human genomic reporter cellular model.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 21, p. 4022, doi. 10.1093/hmg/ddp346

By:

Alegre-Abarrategui, Javier;
Christian, Helen;
Lufino, Michele M.P.;
Mutihac, Ruxandra;
Venda, Lara Lourenço;
Ansorge, Olaf;
Wade-Martins, Richard

Publication type:

Article

p38 Mitogen-activated protein kinase stabilizes SMN mRNA through RNA binding protein HuR.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 21, p. 4035, doi. 10.1093/hmg/ddp352

By:

Farooq, Faraz;
Balabanian, Sylvia;
Liu, Xuejun;
Holcik, Martin;
MacKenzie, Alex

Publication type:

Article

Replication of celiac disease UK genome-wide association study results in a US population.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 21, p. 4219, doi. 10.1093/hmg/ddp364

By:

Garner, C.P.;
Murray, J.A.;
Ding, Y.C.;
Tien, Z.;
van Heel, D.A.;
Neuhausen, S.L.

Publication type:

Article

A conserved role for the mitochondrial citrate transporter Sea/SLC25A1 in the maintenance of chromosome integrity.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 21, p. 4180, doi. 10.1093/hmg/ddp370

By:

Morciano, Patrizia;
Carrisi, Chiara;
Capobianco, Loredana;
Mannini, Linda;
Burgio, Giosalba;
Cestra, Gianluca;
De Benedetto, Giuseppe E.;
Corona, Davide F.V.;
Musio, Antonio;
Cenci, Giovanni

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 21, p. NP, doi. 10.1093/hmg/ddp447
Publication type:: Article

Cover Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 21, p. NP, doi. 10.1093/hmg/ddp449
Publication type:: Article

Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 21, p. 4066, doi. 10.1093/hmg/ddp355

By:

Kielar, Catherine;
Wishart, Thomas M.;
Palmer, Alice;
Dihanich, Sybille;
Wong, Andrew M.;
Macauley, Shannon L.;
Chan, Chun-Hung;
Sands, Mark S.;
Pearce, David A.;
Cooper, Jonathan D.;
Gillingwater, Thomas H.

Publication type:

Article

Investigating the genetic association between ERAP1 and ankylosing spondylitis.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 21, p. 4204, doi. 10.1093/hmg/ddp371

By:

Harvey, David;
Pointon, Jennifer J.;
Evans, David M.;
Karaderi, Tugce;
Farrar, Claire;
Appleton, Louise H.;
Sturrock, Roger D.;
Stone, Millicent A.;
Oppermann, Udo;
Brown, Matthew A.;
Wordsworth, B. Paul

Publication type:

Article

Tau fragmentation, aggregation and clearance: the dual role of lysosomal processing.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 21, p. 4153, doi. 10.1093/hmg/ddp367

By:

Wang, Yipeng;
Martinez-Vicente, Marta;
Krüger, Ulrike;
Kaushik, Susmita;
Wong, Esther;
Mandelkow, Eva-Maria;
Cuervo, Ana Maria;
Mandelkow, Eckhard

Publication type:

Article

A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 21, p. 4189, doi. 10.1093/hmg/ddp361

By:

Hegele, Robert A.;
Ban, Matthew R.;
Hsueh, Neil;
Kennedy, Brooke A.;
Cao, Henian;
Zou, Guang Yong;
Anand, Sonia;
Yusuf, Salim;
Huff, Murray W.;
Wang, Jian

Publication type:

Article

Transcriptional dysregulation of TrkA associates with neurodegeneration in spinocerebellar ataxia type 17.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 21, p. 4141, doi. 10.1093/hmg/ddp363

By:

Shah, Anjali G.;
Friedman, Meyer J.;
Huang, Shanshan;
Roberts, Meredith;
Li, Xiao-Jiang;
Li, Shihua

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 21, p. NP, doi. 10.1093/hmg/ddp451
Publication type:: Article

Evaluation of the therapeutic potential of carbonic anhydrase inhibitors in two animal models of dystrophin deficient muscular dystrophy.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 21, p. 4089, doi. 10.1093/hmg/ddp358

By:

Giacomotto, Jean;
Pertl, Cordula;
Borrel, Caroline;
Walter, Maggie C.;
Bulst, Stefanie;
Johnsen, Bob;
Baillie, David L.;
Lochmüller, Hanns;
Thirion, Christian;
Ségalat, Laurent

Publication type:

Article

Common and different genetic background for rheumatoid arthritis and coeliac disease.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 21, p. 4195, doi. 10.1093/hmg/ddp365

By:

Coenen, Marieke J.H.;
Trynka, Gosia;
Heskamp, Sandra;
Franke, Barbara;
van Diemen, Cleo C.;
Smolonska, Joanna;
van Leeuwen, Miek;
Brouwer, Elisabeth;
Boezen, Marike H.;
Postma, Dirkje S.;
Platteel, Mathieu;
Zanen, Pieter;
Lammers, Jan-Willem W.J.;
Groen, Harry J.M.;
Mali, Willem P.T.M.;
Mulder, Chris J.;
Tack, Greetje J.;
Verbeek, Wieke H.M.;
Wolters, Victorien M.;
Houwen, Roderick H.J.

Publication type:

Article

A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 21, p. 4013, doi. 10.1093/hmg/ddp345

By:

Schwarzer, Wibke;
Witte, Florian;
Rajab, Anna;
Mundlos, Stefan;
Stricker, Sigmar

Publication type:

Article

Copy number variation influences gene expression and metabolic traits in mice.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 21, p. 4118, doi. 10.1093/hmg/ddp360

By:

Orozco, Luz D.;
Cokus, Shawn J.;
Ghazalpour, Anatole;
Ingram-Drake, Leslie;
Wang, Susanna;
van Nas, Atila;
Che, Nam;
Araujo, Jesus A.;
Pellegrini, Matteo;
Lusis, Aldons J.

Publication type:

Article

DNA methylation differences after exposure to prenatal famine are common and timing- and sex-specific.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 21, p. 4046, doi. 10.1093/hmg/ddp353

By:

Tobi, Elmar W.;
Lumey, L.H.;
Talens, Rudolf P.;
Kremer, Dennis;
Putter, Hein;
Stein, Aryeh D.;
Slagboom, P. Eline;
Heijmans, Bastiaan T.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 21, p. NP, doi. 10.1093/hmg/ddp453
Publication type:: Article